Podcast appearances and mentions of effie parks

Behind every rare disease diagnosis lies a story of heartbreak, resilience, and unshakable love. Heather sits down with Effie Parks, award-winning host of Once Upon a Gene and mother to Ford, who lives with CTNNB1 syndrome. Together, they uncover the raw truths of parenting a child with special needs—from the moments of joy to the isolation no one talks about. Effie's journey is a testament to the power of advocacy, community, and finding light in the darkest days. This episode will leave you inspired and deeply moved by the resilience of families navigating the rare disease world. Find Effie Parks:

Send us a textReceiving a rare genetic disease diagnosis for yourself or a loved one is devastating news, especially when the diagnosed is a child.For families, navigating the challenges of these diagnoses requires more than just medical care, it takes a strong, compassionate support system.In this episode of CareTalk, David E. Williams and John Driscoll sit down with Effie Parks, advocate and host of the Once Upon a Gene podcast, to dive into the critical role of community during a rare disease diagnosis and the strong support system that has developed around parenting those afflicted.This episode is brought to you by BetterHelp. Give online therapy a try at https://betterhelp.com/caretalk and get on your way to being your best self.As a BetterHelp affiliate, we may receive compensation from BetterHelp if you purchase products or services through the links provided.TOPICS(0:36) Sponsorship(1:52) Welcome Effie Parks(2:31) Effie Parks' Journey into the Rare Disease Community(4:31) Why Effie Parks Started Once Upon a Gene(6:18) Advice to Families in the Rare Disease Community(7:12) Grappling with Grief and Guilt(10:45) Understanding Why We Experience Guilt(12:18) Examining Healthcare Policies That Impact Rare Diseases(14:43) How Healthcare Professionals Can Be More Sensitive to Families(16:27) Building a Supportive Rare Disease Community(18:19) Advice for Government Agencies When Approaching Rare Disease Policy(20:09) Engaging Patients and Families in Healthcare Policy(20:50) How the Entire Healthcare Ecosystem Can Become More Involved(22:46) Creating a Virtual Event for the Rare Disease Community(24:20) Areas of Hope in Rare Diseases

Effie Parks is well known in the rare disease community as both a patient advocate and host of the Once Upon a Gene podcast. Like many advocates, she was thrust into the world of rare diseases following the diagnosis of her son Ford with an ultra-rare neurodevelopmental disorder known as CTNNB1 syndrome. Recently she published a map of the journey that a family undergoes when seeking a diagnosis a rare disease, a humorous answer to the orderly way organizations typically portray the experience. We spoke to Parks about her experience with the diagnostic odyssey for her son Ford, her version of the map to a genetic diagnosis, and what organizations usually get wrong. Click here to view the map.

Text Us!In this episode of Raising Disabled we talk to Effie Parks about:raising her son Ford,her podcast Once Upon a Gene,and her mission to help families with genetic disorders.You can follow Effie on Instagram at @onceuponagene.podcastPlease subscribe, leave a review, and follow us on social media to know about upcoming episodes and to participate in this podcast.Instagram - @raisingdisabledpodcastFacebook - Raising Disabled Podcast

Bump in the road? Indeed. Meet Pat Wetzel. Pat is a graduate from the University of Pennsylvania and Wharton Business School. She began her professional life working in the finance industry in New York City. We talk about some of that in this episode of Unstoppable Mindset and we even get Pat's take on today's economy.   Pat's life changed dramatically when she was diagnosed with a serious neurological disease myasthenia gravis. She went through a divorce and eventually reassessed her entire life. Talk about being unstoppable, to sum it up, Pat decided to continue living. She is one of the relatively few who was diagnosed but fully survived and moved on from her disease.   Along the way she discovered soaring-flying high in motorless airplanes. Soaring she began to do not only in airplanes, but with the rest of her life.   I think you will be totally inspired by Pat's story. Four years ago she began the Bump In The Road podcast and just this year she published her first book called, you guessed it, Bump In The Road. Check out Pat Wetzel's story on our episode this time and I hope you will pick up her book as well as listening to her podcast, after you listen to this one of course.     About the Guest:   Pat Wetzel, a graduate from the University of Pennsylvania and Wharton Business School, embarked on her adult journey in the bustling city of New York. Little did she know that her path would take a dramatic turn, when she was diagnosed with a serious neurological disease myasthenia gravis.  A divorce and the resulting chaos forced her to reimagine her life. A chance encounter with the sport of soaring-flying high tech motorless airplanes cross country-became the portal to unexpected adventure, leading her to soar to new heights, both metaphorically and literally. Her adventures in the air became the back drop for conquering challenges, finding courage and connecting with a greater natural world. Through her experiences, Pat Wetzel has emerged not only as an individual who is wise, but as a podcaster and author with a profound message to share. In "Bump In the Road: 15 Stories of Courage, Hope, and Resilience," she channels her unique perspective, weaving together tales of human strength and triumph. The stories, based on her weekly podcast Bump In The Road, inspire others to navigate life's bumps with hope and to find courage in the face of uncertainty. In this book, Pat's story and the story of her 15 guests is a testament to the unwavering power of the human spirit and a reminder that even amidst the bumps in the road, our potential for growth knows no bounds. ** ** Ways to connect with Pat:   Website: BumpInTheRoad.us Instagram: Instagram.com/BumpInTheRoad.us Twitter: Twitter.com/CancerRoadTrip Facebook: Facebook.com/BumpInTheRD Linked in: https://www.linkedin.com/in/patwetzel/     About the Host: Michael Hingson is a New York Times best-selling author, international lecturer, and Chief Vision Officer for accessiBe. Michael, blind since birth, survived the 9/11 attacks with the help of his guide dog Roselle. This story is the subject of his best-selling book, Thunder Dog.   Michael gives over 100 presentations around the world each year speaking to influential groups such as Exxon Mobile, AT&T, Federal Express, Scripps College, Rutgers University, Children's Hospital, and the American Red Cross just to name a few. He is Ambassador for the National Braille Literacy Campaign for the National Federation of the Blind and also serves as Ambassador for the American Humane Association's 2012 Hero Dog Awards.   https://michaelhingson.com https://www.facebook.com/michael.hingson.author.speaker/ https://twitter.com/mhingson https://www.youtube.com/user/mhingson https://www.linkedin.com/in/michaelhingson/   accessiBe Links https://accessibe.com/ https://www.youtube.com/c/accessiBe https://www.linkedin.com/company/accessibe/mycompany/   https://www.facebook.com/accessibe/       Thanks for listening!   Thanks so much for listening to our podcast! If you enjoyed this episode and think that others could benefit from listening, please share it using the social media buttons on this page. Do you have some feedback or questions about this episode? Leave a comment in the section below!   Subscribe to the podcast   If you would like to get automatic updates of new podcast episodes, you can subscribe to the podcast on Apple Podcasts or Stitcher. You can also subscribe in your favorite podcast app.   Leave us an Apple Podcasts review   Ratings and reviews from our listeners are extremely valuable to us and greatly appreciated. They help our podcast rank higher on Apple Podcasts, which exposes our show to more awesome listeners like you. If you have a minute, please leave an honest review on Apple Podcasts.     Transcription Notes: Michael Hingson ** 00:00 Access Cast and accessiBe Initiative presents Unstoppable Mindset. The podcast where inclusion, diversity and the unexpected meet. Hi, I'm Michael Hingson, Chief Vision Officer for accessiBe and the author of the number one New York Times bestselling book, Thunder dog, the story of a blind man, his guide dog and the triumph of trust. Thanks for joining me on my podcast as we explore our own blinding fears of inclusion unacceptance and our resistance to change. We will discover the idea that no matter the situation, or the people we encounter, our own fears, and prejudices often are our strongest barriers to moving forward. The unstoppable mindset podcast is sponsored by accessiBe, that's a c c e s s i capital B e. Visit www.accessibe.com to learn how you can make your website accessible for persons with disabilities. And to help make the internet fully inclusive by the year 2025. Glad you dropped by we're happy to meet you and to have you here with us.   Michael Hingson ** 01:21 Well, Howdy, and welcome to another episode of unstoppable mindset. I am your host, Michael Hinkson. I really am glad that you're here with us today. And today, we're going to chat with Pat Wetzel. Pat is an interesting person by any standard. She is a graduate of University of Pennsylvania and the Wharton School of Business, I'm jealous, but that's okay. She then started out working in New York. And we'll have to have a discussion about best places to buy bagels in New York. But she had a diagnosis that changed her whole life and her whole career. I'm going to leave it to her to talk more about that. And everything that follows. She is also a podcaster. She has a podcast called a bump in the road. And we'll I'm sure talk about that in the course of the day. And she's an author of a book. And guess what the book is entitled bump in the road. Anyway, Pat, welcome to unstoppable mindset. We're really glad you're here. Thank you. Nice to be here. So tell me a little bit about the early Pat growing up and all that sort of stuff.   Pat Wetzel ** 02:28 Oh, early Pat. Let's see, I grew up in northern New Jersey in a town called Upper Saddle River. And it was just beautiful countryside as a kid, or as a teenager, of course, you hated it, because the only thing to do was play sports and go to school. But actually, it was really a very idyllic, my family settled deal is spent a lot of time in Europe, which gave me a rather different perspective on the world. From the time I was very young. I knew it was a big world, there were different people and cultures. And I really loved that. And I think that influence the remainder of my life in that I enjoy going into different places. And I think it also gave me a tolerance not just for differences in people and culture, but for a little bit of adventure and risk. Went to school started off in the bond market in New York back in the 80s, which was a very cool time to be in the bond market. But I received a diagnosis of myasthenia gravis, which is a very rare neurologic disease. And it causes weakness in voluntary muscles, which includes your eyes, your mouth, your tongue, the ability to breathe or walk. So it was pretty devastating. It really took my life in a direction I did not anticipate. Not a lot of upside there. But one of the good things that did come out of it was that it gave me a time to pause and get out of the rat race craze, super competitive business world. And I think I look at who I was, which really ended up more from my perspective, was kind of this from as opposed to the eat what you kill side of the spectrum, which is a little bit more market oriented.   Michael Hingson ** 04:14 So well tell me more about that. So what did you do?   Pat Wetzel ** 04:20 Really, it was survival, quite honestly. I was up in New Haven, in New Haven area. I had a thymectomy at Yale, which is where they remove your thymus, they think they're not even sure that it somehow influences the course of your disease. And indeed, there are some precancerous lesions there. So it was a it was a good move the whole way around. Initially, you're on all these drugs and you're having to titrate these drugs. And it's a matter of at first just not knowing if you're going to live about a third of the people die about a third of the people remain seriously disabled, and about a third go on in life and I was luckily in the latter group. Ah,So okay, we'll tired and things, but it's nothing major, and I'm no longer on any medication. But it um, it is quite life changing, to say the least. Yeah, I would, I would think that it would be   Michael Hingson ** 05:14 pulling, removing your thymus and just all of the various things that go along with that it has to be not a very fun thing, do you still go get checkups on any kind of regular basis?   Pat Wetzel ** 05:26 No, interestingly, when I started flying, fast forward a decade or so, when I started flying,I was having full time trading my drugs, and one of the problems is having too much in your system gives you the same symptoms as having too little. So you never know you're ahead or behind. So I decided to start weaning myself off my drugs. I did this without medical supervision, I do not recommend anybody do it, no doctor would have taken the risk. But I decided to do it. And indeed, it worked. I might get a little tired or whatnot, I can manage that. And that was really the end of my interface with the medical establishment for that period of my life. Wow. Well, so. So let's go back. So you started in the bond market in the 1980s. Of course, we had the recession in the 1980s, and all the economic things. So typically, as interest rates, well, so as interest rates go up, does that mean that usually bonds go down or they go up, they go down in terms of value, the thing that was really interesting in the corporate market was that all the previous parameters for risk assessment were no longer viable, because the interest rate environment had changed so drastically. So there were new models being created, the rating rating agencies were just so far behind the curve, they weren't very useful in terms of assessing any risk. And it was a very interesting time in that.If you remember, Michael Milken, he really changed the face of corporate finance, in that he made capital accessible to mid tier companies, they never had access to this type of capital before. So it was a really interesting time period financially, but for the aberrations of these incredibly high interest rates, and for the fact that the access to capital was dramatically changing, for much of corporate America. So fast forward, out of curiosity, just to go off of the, the timeline to today. For the past few years, economists have been talking about how we're going to go through this incredibly high level of inflation and, and it's gonna it's gonna cause unemployment as we raise the interest rates to go up. And the reality is that and I was reading an article by Paul Krugman, this morning from the New York Times, a lot of what people predicted just didn't happen at all. What do you think about all that? I think the economy is proven to be a little more resilient than we thought. But I also think government numbers are pretty useless. Years ago, when the numbers made no sense to me, I found a website called Shadow stats.com, which is by math economist. His numbers made sense. The government has revamped their numbers. So many times there's no continuity in terms of trying to ascertain what's actually going on. I think you are starting to see more layoffs. I think that our economy personally is fairly brittle and fragile. i What's going to be the event that said something's off. But if you look at say, banking, everybody's underwater in their bond portfolio, commercial real estate market is plummeted. There was recently a building in San Francisco that I think assessed for 40 or 50% of its value just five years ago. And it's happening in numerous urban areas. The economy is really slow to react to these large changes. It's been slower than I thought it would be. Look at the housing market, for example, interest rates are at 8%. They weren't 3% A few years ago, that's a 5%. That's a 5% change. Typically, the rule of thumb is you see about a 1% 10% change in valuation for every 1% move in interest rates. Well, that would argue for close to a 50% change in market, the market value of real estate assets, but you're not seeing that in a lot of places. I think that we need to be a little patient. I think there are a few things impacting it. And it varies by locale, of course, the media usually oversimplifies so many things and I think they also tend to miss characterize a lot of things. So we were hearing about all this business of inflation. And people keep being told by a lot of politicians that inflation is really high and all that and the prices are really high. Krugman made an interesting observation this morning and which was just because inflation is going down, up there.   Michael Hingson ** 10:00 It's not something that directly and certainly immediately controls prices. So inflation may be going down, but we are paying more. And just because inflation drops, that doesn't mean that suddenly we're going to pay less for things.   Pat Wetzel ** 10:14 Well, I would argue that that, first of all, go back to the argument that the government numbers for mission are pretty useless. For example, I went into Trader Joe's the other day, and a chicken breast, that rather turkey breast that I bought a year ago ran about $25. It's $50. Now.And I think that the average person going out and having to pay for just the things that we need to I think we would all argue that interest rates have probably been more in the 15% up range. Rather, if price inflation has been 18 Plus, if not more in certain categories. Yeah. And I would also submit that again,   Michael Hingson ** 10:56 the numbers are are all over the place. And that's I'm agreeing with you, I think that we're not really seeing   Pat Wetzel ** 11:02 something yet, that's really consistent that that really tells us what is going on. But I also think that too many people are politicizing it, rather than trying to come up with a real solution. Nobody wants to do that. They want to just blame everyone else for it. Yeah, I agree with that. And you know, it always comes down in my mind, you said, you have to live within your means. It's okay to borrow with it. But you can't get over your head and debt. There's no free lunch here. I think even the Fed is now coming out and saying that the spending out of Washington is absolutely out of control. That's by the heart. It's not political. It's just reality. And I think that I think we need to return to a saner way of living in personally, I think this model of perpetual growth may not be sustainable, you can't grow forever. Right.   Michael Hingson ** 11:59 Not without something else changing in the process, we had a fair amount of credit card debt over a number of years. And my wife, once we moved down here really decided we need to, to not be so much in credit card debt, and literally over about a four or five year period. And she handled all the bills every day was in QuickBooks and quicken and everything else and looking at everything. But you know what, we now don't owe anything on credit cards, except for whatever is due in a given month. And she passed away this past November. And when I decided to do to make sure we don't get in trouble like that, again, was to set every credit card that we have that we use, and we're not even I'm not even using all the ones that we have available. But what I have done is to set them for automatic payment to pay off the entire balance every month. So it really forces me too. And I don't mind doing it at all stay within means and the main thing we do with credit cards, other than going to Costco and buying food every so often is it's all about business. So it's easy, because we have mechanisms to get reimbursed for a lot of the stuff I do for business. So we get to pay everything back and I agree with you, we need to live within our means. For a while we had some challenges and weren't able to do that. That's been a number of years. And so now we will I just make sure that we don't accrue any credit card debt because it's got to be paid off every month.   Pat Wetzel ** 13:38 And with you there isn't any material thing I have to have. I just don't need it.   Michael Hingson ** 13:45 If there's something I need to have that I've got to save for it. I have wanted a Sonos subwoofer to get bass on my audio system for years, and the son of subwoofers like 800 bucks. That's a fair amount of money. Yeah, but it does sound good, but I wanted it. But I wasn't going to spend the money for it. Until it suddenly I realized that for my business credit card. I accrue points, and I had like almost 1000 points. And so what it really meant was that the subwoofer, because I just suddenly one day on a whim, decided to look in the catalog of of items sold through this point system, and they had the Sonos subwoofer, and it was like 800 points. So I got my subwoofer and it didn't cost anything, which is great. Hey, that's wonderful. And I needed to use some of those points for something. And now they're they're growing again and probably what I'll do is wait and save up for an iPhone. Because for me like with iPhones, I don't need to have the latest and greatest one. And the reality is that the current iPhone On the iPhone 15 is good and has made some significant advances. But the thing that they publicize the most, of course, is the camera, which I don't really care as much about. So I'll probably wait for the 16 before I go off and make a purchase, no one has given me yet compelling reasons why, for my iPhone experience, it would be great to upgrade to the 15 from the 13. Somebody might come along and convince me and if that happens, great, but, you know, I do think we need to live within our means and being very conscious about it. It is certainly something I want to continue. And I and I know that for some people, it's hard, because they don't have the income. But we do have a lot of open jobs. And I wish we could figure out a way to convince people that maybe we need to take different jobs, and maybe we want to take but we can learn and we can at least earn an income. I think with any job you can always learn. And I think that learning is invaluable. Because you've learned something, you take that knowledge board with you, wherever you go, nobody can ever take it from you. Yeah. Well, so you went through challenges and that obviously had to help shape your, your view of things. So what happened after myasthenia gravis, and so on? And what did you What did you do to move forward? Well, I went through a very difficult and it was an interesting period of time, I call it my life wish death wish period.   Pat Wetzel ** 16:31 Obviously, I wanted to live, but I have lost everything that ever mattered to me. My in laws, who I loved dearly, my ex husband, who I loved, everybody was just on. And I really just didn't care about what happened. And the thing that's interesting about that, is I became somewhat fearless. And I started learning to fly sail planes. And I eventually ended up buying a high performance sail plane, which of course, I didn't know how to fly, I would have to figure that out since it was a single seat plane. But it was a very interesting period in my life. And I think that experience of being fairly fearless is something I want to take forward with me. So you went through a divorce and all that was because of the myasthenia gravis or other kinds of forces? You know, I'm not going to speak for my ex.   17:27 Yeah.   Michael Hingson ** 17:29 It's, it's unfortunate, you know, things, things change. And sometimes we just aren't willing to change with it. But I don't know what what happened in your case. I know, for Karen and me, we live together, we were married for 40 years, she's always been in a wheelchair. And I've always been blind, we have undergone changes in our lives, a lot of economic challenges, job issues for a while. And of course, for me as a as a blind person, in fact, for her, but probably more for me.The difficulty in applying for a job is that so many people say well, you're blind, you can't do the job. And the prejudice is run really deep. And so for a while, the job I had was actually I ran my own company. And all of my employees were paid before I was paid. And so for actually three years, we mostly lived on credit cards. And that's all we could do. Because we had employees that we had to pay. And eventually, we did okay. And we sold the company and I went to work for other companies. And we came out of that. And again, eventually we were really able to pay off bills, but it really tests you. And it's a question of how much you're committed to staying with someone just because change has happened. And I think both Karen and I, at various times, had changes in our lives. But we made a strong commitment to stay with each other. And we did. So Karen got sick and 2014 we moved down here, which we never thought we were going to do. And she almost died. She was in the 40% that didn't pass away from double pneumonia with a 90% occlusion of her lungs. And she survived that. But still it it had a great toll on on both of us. But you make the decision to go forward. And she and I did. We talked about it a lot. And we we came through it. And it's all you can do. Well, I'm clapping for you. I think that's a difficult thing to do. And I think that it's the harder path but probably the path where you learn an awful lot. Well it is. I think you you learn a lot more if you are willing to do it and you go back to basic things. We made a commitment in November of 1982 to live with each other and stay married and in sickness and in health and and in money and not all that wasn't really part of the Vows but it was still there. And so we did. But you know, I can appreciate that there are always challenges that come up. And sometimes you have to deal with things. And in your case you you did lose a lot. But you've obviously worked and gone in other directions, right?   Pat Wetzel ** 20:16 Yeah, very interestingly, originally, way back when everybody thought I would write, and I'd love to read, I love to write. But I took the more practical path. Now, fast forward several decades, and I'm doing what I originally really wanted to do. You know, with a podcast, I'd have interesting, meaningful conversations every week. It's fabulous. And I'm working on my second book now bump in the road strong women. And it's, it's wonderful. It's a lot of work sometimes, but I really welcome it. And do you can always write another book called a bumpy road. But that's another story. There are no bumps in any one.   Michael Hingson ** 21:01 We need others. We could always talk about the pothole in the road. Just another thought, the pothole in the road instead of the bump in the road.   Pat Wetzel ** 21:12 Might zoom background, I have this curving road. And somebody said that I the curving road and the twists and turns just as not sufficient that I should actually blow the bridge up. Because that would give a much better sense of what is really like, well, you could have an automated background so every so often, it blows up.   Michael Hingson ** 21:34 That reminds me of the old original Addams Family, remember when Gomez Addams would always run the trains and would blow  all up? And so just saying that's another thought. Have an automated background and blow up the bridge every so often. I'll work on that. Yeah, there's something to consider. But you so so you have your own business now or what? Well, the the podcasts the book and I'm starting to do public speaking. Okay. And so does the podcast generate income for you, you must have a way of doing an income or have you done some of those suspicious bank robberies we don't know anything about.   Pat Wetzel ** 22:15 I bet they talk about my suspicious bank robberies, if you don't mind. But I'm the podcast is about breaks even. And obviously, the books in new revenue stream,   Michael Hingson ** 22:29 say that podcasting and writing books for most people is not a huge income stream, at least not individually. Right. How long have you been doing the podcast now? I'm going on my fourth year. Wow. That's pretty exciting. And yeah, I snuck out what's the average? What's the average failure rate or time to failure? For POCs? I think three or four months? Yeah, I think so. We're now two and a half. Well, almost two and a half years into unstoppable mindset. And we actually went from one episode a week to two episodes a week last year, because we were getting so much attention. And people said we want to be on the podcast. So we actually now do two episodes a day a week. And literally today this will tell people about when we're recording, we just upped uploaded and published episode 177. So we're having a lot of fun with it. And people are very kind and we have been getting great reviews and people say nice things. So I guess I can't complain too much.   Pat Wetzel ** 23:34 No, I think podcasting is just fabulous. I really do. I am so grateful for the people I meet, I meet the most interesting people. And because we're talking about their bumps in the road, we have meaningful conversations. And that means a great deal to me. Yeah, well, and with unstoppable mindset, as you know, I asked people to tell me what they want to talk about. And that's what we talk about, which is perfectly sensible. Because you don't want you want to talk about and can talk about a whole heck of a lot more than I do. And I think it's important to have conversations and not just do an interview. So this is a lot of fun to do. And, you know, having been on bump in the road, it's a lot of fun to thanks, I I'm very thankful for bump, it really came out of a bump in the road. And it has been, I think one of the most interesting paths I have taken in my life.   Michael Hingson ** 24:31 So why did you do it? What what really prompted you to start doing the podcast?   Pat Wetzel ** 24:37 I had lined up about a million dollars for a project I was working on called cancer road trip, where every quarter we would give seven people who've been impacted by cancer and amazing bucket list trip. The first trip was Tanzania. So we were looking at you know, Kilimanjaro, the metaphor of a mountain Safari and the metaphor of survival, Tanzania and the spice of life. that type of thing to tell stories against these iconic backups, but COVID hit. So everything shut down everything. Two years, and all the money I put into it were gone. So after being fairly depressed for about two weeks, I needed to do something, yeah, you can only eat so many potato chips, you know. So I decided I need to do something, and if nothing else, just to keep my social media audience that I had developed in place. So I decided to do a podcast, and the idea of a bump in the road came to me. And I didn't know if it would work. I didn't know if I could get anybody. I had no idea what would happen. I knew nothing about podcasting. But I dove in. And here I am, you know, three plus years later going into my fourth year. You do in addition to this, and the fact that you wrote a book and you're writing a new book, do you do any kind of coaching or consulting? Or do you strictly do the podcast and the book, right now I'm working on keynote, a keynote speech, speech, that can be adapted for a variety of environments, I really want to if I prepare enough, I actually enjoy public speaking. And I'm looking forward to combining some fun travel and some speaking over the next year and a half or so. Yeah, home speaking is starting to pick up again, since Karen passed, I now have the time to do it again as well. And now I don't have to worry about leaving her up. So I've started to work on trying to find more speaking engagements and to be able to inspire people. And the reality is there's a lot that we can inspire people about and we can certainly set a tone and a trend. So I look forward to to doing more public speaking again, and we're working on it, it's coming up.   Michael Hingson ** 26:54 I actually had an email correspondence with someone yesterday about possibly speaking at an event for them next year, and it was not a person I knew. But I wrote a letter. And it turns out that she read it almost immediately. And she wrote back and I was was humorous in the letter to a degree because apparently she was in a building for a while that burned down. And I said, a building that your building burned down. What a way to force people to work remotely rather than being in the office. Pretty clever way to do it. And she wrote back actually saw it this morning, she said, your letter came right at the right time. It was a down day yesterday, and you really brighten my day. But you know, I think that that's kind of the part of me. I love humor. Not in a negative way. But I love humor. And I love to try to get people to smile and laugh. Every time I go through a TSA kiosk and meet the TSA people. They always say, Where's your I need your boarding pass and your ID and I'll give him the boarding pass. I say but I need your ID and I said what did you do lose yours? You know, things like that. And they say, Oh, they have they have? Or during COVID When it was at a time when I would be wearing a mask? And I still do. But I would also say What do you mean, you want my ID? I'm wearing a mask? How are you going to be able to tell who I am? Oh, we're going to ask you to take your mask off. And I said, Well, I'm still just going to look like this piece of paper. What does that do for you? Yeah, but it's it's all about making them laugh. And I think it's important. Humor, in a good way has to be part of what we do. Because like with those people, it's such a thankless job, you know? Well, I think humor is important a lot. It gives you a little perspective. And life is short, enjoy it, enjoy the ride. And I think part of enjoying it is having a sense of humor. Otherwise, how do you survive? Yeah, it's important to be able to laugh at things and laugh at yourself, and help other people laugh because it is so hard to do. And we live in such a serious world. Today, with so many things going on. We need to find ways to lighten up and smile. So you know, I think it is really important. Can you tell us anything about what your keynote is, is looking like it will be about   Pat Wetzel ** 29:23 your strong women. My next book is a bump in the road strong women. I've interviewed some amazing women. And that's what I'm going to focus on.   29:33 Well,   Pat Wetzel ** 29:35 I'm really looking forward to it. Do you have a publisher? Or are you self publishing? Or how are you doing the books, self published and I've looked at the publishing options. So the reality is to get a top notch publisher, you have to be famous, essentially, I have about 80,000 people on my social media following and frankly, that doesn't even turn anybody's head anymore. If you go the hybrid route I interviewed and now   Pat Wetzel ** 29:59 number of well known publishers for the hybrid route. And reality is I'm doing more than they would do to market my books right now.   Michael Hingson ** 30:11 So I don't think that they bring a lot of value to the equation. So for the moment, I think self publishing looks like a way for me to go, Well, yeah, publishing in general, doesn't do the marketing in the stuff that it used to do. And they do want you to be a major contributor to the marketing effort if they publish your book at all. And I think it's possible to get books published, and there's value in using a publisher, if you can get them to read your book.   Michael Hingson ** 30:41 But at the same time, not everyone can do that, or wants to put that time into the marketing effort, which, which is part of the challenge. I think there are a lot of great books out there. My belief is everyone has a story to tell. And I wish more people would tell their stories, which is why we have unstoppable mindset. And you have   Pat Wetzel ** 31:00 likewise bump in the road? Absolutely. I, I think people's stories are amazing. I think we can learn so much each other. And it can really expedite our own learning curves, if we will just stop and really listen and feel. Because when you feel that wisdom seeps into you, it permeates you in a way that just a superficial story won't. Will Tell me a little bit more about bump in the road, when when did you publish it? And what's it about? Published in us just a September, so it's fairly new, we did hit Amazon Best Selling status, which was great. But I a bump in the road really came about because after about a little over a year, maybe years of doing the podcast, I was so moved, and so taken by the stories of my guests, that this wisdom just had a share. And I had a fairly unique perspective on all these stories. Because I have a 30,000 foot view, I hear everybody's story. And across all these stories, I see all these common elements that permeate them. And I thought, there's just so much to learn here from all these people. So that was the the orig origin of bump in the road, the initial book was twice as long as it is now. I had to cut it down. I probably have material for about 10 books, I just have to find the time to write them at this point. Yeah, well, you know, it's only so much one could do in a day, or you just have to work faster.   Pat Wetzel ** 32:32 Well, actually, you were talking about doing publishing twice a week in your podcast. But podcast is bumped through the spring of 2024 At this point, and I'm beginning to feel as though that's rude. I don't want people to wait because their stories are great. And I've been thinking that maybe what I need to do is, if possible, work harder to open up some time actually to write more.   32:54 Yeah,   Michael Hingson ** 32:56 it is. It's valuable. We we wrote thunder dog and Susie flora and I did thunder dog. And it was published in 2011. And we were very blessed that Thomas Nelson publishing, took it on. They're the largest   Michael Hingson ** 33:11 Christian publisher in the world. Now they're part of HarperCollins.   Michael Hingson ** 33:15 And that has been a great relationship that has now gone on for 12 years. And I can't complain very much about any of that. They've been very supportive, and it continues to go well. Then we did self published running with Roselle. That was the second book. And that was more for kids, talking about what it's like to be a blind child growing up and a guide dog growing up, and then we meet and we ended up in the World Trade Center. But it wasn't nearly as much about the World Trade Center. But I've experienced both. We're writing a new book about learning to control fear. And we do have a publisher for that. And I expect we'll get some good things out of that. So it's it's pretty cool.   Pat Wetzel ** 33:58 That's interesting learning to control fear. What are some of the key factors in that?   Michael Hingson ** 34:05 I think the biggest thing is that we need to recognize that most of what we're afraid of is stuff that we can't control. And we just talk ourselves into a being afraid. And we've never learned how to stop fearing things. unexpected things happen are happening in our lives. And yes, there are physiological things that occur. But at the same time, what what we can do   Michael Hingson ** 34:29 is learn that fear is a very powerful tool. So I learned all that I could about what to do in the World Trade Center and how to function in the World Trade Center, what the emergency evacuation procedures were, and so on. And the result of all that was when an emergency actually did happen. I knew what to do. And I knew and I didn't even think about the fact that I was creating a mindset for that. As I was studying everything I could have   Michael Hingson ** 34:59 At the World Trade Center where things were, I love to tell people you could drug me in the World Trade Center and take me anywhere and drop me off. And when I woke up, I would know where I was within like about five seconds, because I knew the complex, I didn't need to read signs. And I think that's something that everyone needs to do is I create ppreciate eyesight, I value it.   Michael Hingson ** 35:21 But I also think that we spend too much time relying just on eyesight, and not our other senses. And the fact of the matter is that fear is something that often comes up because we think that things are unknown, that don't need to be unknown. So we don't really look at why we're afraid of things, we don't tend to be introspective, we don't tend to analyze. And those are all things that we should do, and learn, most important of all, only to worry about the things that we really can control and not worry about the rest, because it's not going to do us any good. That's true. I don't What do you think? How do you feel after you've moved through fear? What do you think some of the lessons are from overcoming fear? Well, I think of course, it depends on exactly what the situation is. But I think the important thing is that when you're afraid of something, or something happens, that causes you to be afraid, there will come a time when you're going to as you just pointed out, move through the fear, right? And what you need to do is to then stop and take the time, even if it's before you go to sleep at night, but take the time to look at why was I afraid? What was really going on? Did I really need to be afraid of this? And yes, there are certainly times where that is an issue when something happens that is is what would would cause a fear reaction. But most of the time, the things that we're afraid are going to happen, never do. But we tend to build up this fear. And we never then go back and look at why was I really afraid of that what what really is the motivator that I need to look at and re address so that I'm not afraid of that in the future. So I think it is an issue that, you know, that we do need to look at. But we we also have grown up so much not learning about how to deal with fear. And we live in a society today where people are learning not to trust each other or anyone. And that's why it's our third book is being called Live like a guide dog. Dogs love unconditionally. But dogs do not trust unconditionally. But the difference between dogs and people are, is that dogs are unless something really horrible has happened to them. Dogs are open to trust. And we should find better ways to be open to trust. If somebody doesn't earn our trust, that's fine, then you don't deal with that. But we we are even open to dealing with trust, and the possibility that we can trust someone because we figure everybody has their own agendas. I think trust is really important. My favorite trust story actually comes from Mary Neal, who's in my book. She's an orthopedic surgeon, she ran the Spine Center at USC. And she and her husband were kayaking and Chile, as she went over a waterfall was well within her ability range, but she got trapped underneath it and she died. Her story is this is a near death experience story.   Pat Wetzel ** 38:27 Once she finally made it back to Jackson Hole through a remarkable series of coincidences, she was very badly hurt, she had to heal. And she's studying or trying to convince herself that her near death experience did not happen. Because she was a linear tangible scientist, who could if you see measure it, surely it doesn't exist. And at the end of that, she realized that her spiritual experience was indeed very real. And she as she says, and I just love this, she moved from hope to trust.   Pat Wetzel ** 39:01 What an incredible paradigm shift in how you view the world, and how you view your spirituality.   Michael Hingson ** 39:09 Yeah. And, and it makes perfect sense that the problem with science, to some degree, is as you said, if you can't measure it, it can't be so even though now we've learned to measure or observe things that we never did before. And we've learned that maybe things aren't quite as we think. But But science also tends to,   Michael Hingson ** 39:36 as you said, be very linear and linear. And the reality is the world isn't linear. Now, I think the world is has many mysteries to show us yet. Yeah. And that's what makes it fun. I've always loved the internet, because the internet is such a treasure trove of information. And it's fun to just go exploring and learning about different things in the internet and for me how   Michael Hingson ** 39:59 Be not seen my entire life,   Michael Hingson ** 40:03 I find the internet a really fun place to go and experience a lot of things that I never otherwise probably would have been able to experience. It is an alternative that makes data available to me.   Pat Wetzel ** 40:17 I agree as it was interesting, I was having a conversation earlier with somebody who asked me how I found the guests for my podcast. And I'm very fortunate now that people contact me all the time. And I don't have to look as I did. But I really enjoy the process of looking for guests. Because it takes me off on these explorations, I would never think of   Pat Wetzel ** 40:41 people whose paths otherwise I would never crossed. And it can just be from going down a rabbit hole on the internet, you run an interesting person, and they're just somebody you have to meet. I find the web just fascinating in that regard. Yeah, well, and I have found that with LinkedIn, and the Internet and and other things as well. And it's so fun when you get to meet somebody whose experiences are different than you. I tell people all the time, as far as I'm concerned, if I'm not learning as much, from my guess, as anyone else, that I'm not doing my job? Well, I think meeting people is a learning experience. And I think part of the key to learning is learning to listen, I've been on a little bit of a rant about this lately, on my side trips, which are super short podcasts under five minutes.   Pat Wetzel ** 41:32 I, I one of the things I would love to convey to people is learn to tell a good story.   Pat Wetzel ** 41:40 Telling a story is making it experiential. I mean, if you go on a trip, don't bore me with a litany of I do this, I did that I saw this, I saw that I did like this. Instead, tell me about an experience. Tell me about a fabulous meal, an incredible location. Tell me something experiential. You know, the best salespeople in the world are people who tell stories, and who get you to relate to their product and what they want to talk with you about by telling stories. Now, it still may be that what they have, isn't going to do the best for you. And they should be honest about that as well. But good salespeople tell stories, and that always enhances what they do, and what you learn from it. I think stories are incredibly powerful. And our personal stories are powerful, they're inspiring. I think that they are so full of wisdom, that it it puts all of us to stop and listen to each other because we just might learn something. And we might just find some real empathy for other people's.   Michael Hingson ** 42:50 The other thing that I would say is and you're talking about creating a keynote address, put stories in it. I'm sure that's not magic to you. But I think that it's important for people to relate to you. And they'll do that best with stories. I have always believed that I don't talk to an audience. When I go speak, I talk with an audience. And I look to see how they react to different things that I say. And I've learned how things that I talk about when I'm talking about them, affect people. And I've learned how much of relationship and rapport I've been able to establish with audiences by how they react to different things that I say it takes a breath or whatever. And I think that that's so important. I heard a speech once by someone who was talking about one subject relating to September 11. And they just went down this list of people. And they talked for 20 minutes, but there was no story. It was one of the one of the most boring things that I've ever heard.   Michael Hingson ** 44:01 And I've heard some people I've attended some speeches, where people are talking about financial things, people in the financial industry, and how boring they are because they're just reciting facts and figures. And don't do anything to relate to the average audience. I think that's very true. I was listening to somebody talk about a financial book they wrote recently. Oh my god, I just had to get the combination. It was so boring. I just   Pat Wetzel ** 44:30 and there were no stories just as you're saying.   Michael Hingson ** 44:34 So   Michael Hingson ** 44:36 what's the the format or what is what is the book bump in the road?   Pat Wetzel ** 44:41 The format are it's 15 stories about remarkable people. And each of those people represent a theme there some some of the themes would certainly be courage. Hers take a different path.   Pat Wetzel ** 44:56 Oh, they're just a travel is a theme in it   44:59 today   Pat Wetzel ** 45:00 is a big theme. I think authenticity actually is a theme that shows up in each and every story. I think each person after hitting a bump in the road, really pause to search for what is the right path forward for them. And each person finds a unique way to do that. Authenticity is a really interesting thing. And you have said that quieting your mind is a very important thing to deal with. When you're addressing personal authenticity. Why is that? I think learning to quiet your mind is first a totally learnable skill, found the most profound skills you can ever learn, and you need it in your arsenal. Because until you can learn to quiet your mind, still in peace internally, you can't learn to listen or observe your thoughts. Otherwise, your your mind just runs and runs and runs. And often the thoughts that occur to you may really be thoughts that are planted by you know, your societal surroundings, your parents, your employer, the expectations of life around you. But when you can learn to be still you can learn to observe your, your thoughts, and when ability comes awareness. Now you can consciously choose your thoughts. And that awareness is astonishing, it really gives you choice, at least a reflection. Personally, I'm a big fan of meditation to achieve that. And an hour of meditation is that it's experiential. That's where it really changes your life. And that's where learning occurs. There's joy and magic in endless silence, and there's profound peace. And once you experience that peace, it's not a no, it's not an intellectual thing. It's a heartfelt knowing that there is this piece that is always there, and always accessible. And you bring that all of a sudden into your everyday life, you know, road rage, who needs it, who cares, you have peace with you. It's really life changing. And there's so many different ways to meditate. You can use sound, it might be in sport, it could be in walking, it could be in gardening, it can be in sitting, I really fan, I really urge everybody to explore how meditation might be been might be beneficial for your life. And there, you've answered the question about controlling fear to a very large degree. If you stop and listen to yourself, and really are willing to take that step back, you'll learn so much that you'll never learn any other way. I've been a very great fan the last few months of saying Not that I'm my own worst critic when I think about things, but I'm my own best teacher. Because really, I'm the only one who can teach me other people can offer information. But I'm the only one that can really teach it to me. And I much prefer the positivity of I'm my own best teacher. And if people would really take the time to silence and step back, and listen. It's amazing how much you'll learn.   Pat Wetzel ** 48:04 And I think ultimately, the this road trip called Life is ideally a trip towards ever greater authenticity. And that demands that you stop and listen and make conscious choices about how you react, how you see things, and then ultimately be open to a broader world, and open to new experiences that can also help change and mold you.   Michael Hingson ** 48:29 Who are some of your favorite guests from a bump in the road.   Pat Wetzel ** 48:35 Every single one of them, I really can't pick a favorite.   Pat Wetzel ** 48:39 One that I thought was really very powerful was Effie Parks's story. She's a mom, and she was pregnant and happy and excited for the perfect child who's going to grow up and be a star and be an astronaut and whatnot. And our child was born with some very nice genetic defects. It was a tremendously isolating experience for her because as her friend's children grew, her her son, person the same way, and she had a 24/7 responsibility with a very disabled child. And her story really changed when she just found love in her situation. And finding that love just changed everything about her outlook and her perspective. And I love that story. Because I think it's a story for all of us. And I think it's a very profound story about how our perspective really shapes the way we view the world and how we have choice in how we view the world. So   Michael Hingson ** 49:41 in thinking about that, she found meaning in what she was doing, why is it really important to find the meaning of life for you? I think everybody needs to have meaning. Otherwise, what is the point   Pat Wetzel ** 49:55 are really just floating through through life and then we die. I think that   Pat Wetzel ** 50:00 You need meaning to motivate you, to help you get up every morning to rest, to learn to achieve capabilities in different areas, I think meaning is one of the critical pieces of a well lived life, though a bump in the road is all about a bump in the road of life.   Michael Hingson ** 50:21 And how do you navigate? What are some of the keys to navigating bumps in the road? Now? That's a great question.   Pat Wetzel ** 50:30 I think one of the themes, there are numerous themes. Certainly one is courage, we talked about fear earlier, be willing to face your fear and move through it. I think authenticity is a very an identity are very strong themes. I think these people had to look at their lives, strip away the pieces of them that no longer worked, and find a new person underneath it, find their most authentic person, and move forward with that. And generally, they were committed to really continuing that type of internal dialogue and practice as life went on.   Pat Wetzel ** 51:08 I think that one of the reasons I am fascinated by the idea of a bump in the road is What does teach us to navigate this, we all have to figure it out for ourselves. And that's a little crazy, there really are certain things that we can do, such as having courage, such as being willing to strip away these false identities that we all have, as a result of just moving through this side.   Pat Wetzel ** 51:32 I think that as we listen to each other stories, we can just learn so much, so much about these bumps. And I think it all comes down to willing to be open to change. A lot of people don't really change, they like the status quo, they like the comfort of being in their comfort zone. But the reality is the magic outside your comfort zone that the magic is. And the magic is in the present moment. Because in that moment, you can make a change. And you can then sculpt that the next moment, and the next. And that means getting out of your mind, getting into your heart getting into the present. And I think that's a lesson about how to blow these bumps. And the reality is, so what does that really do? It widens your comfort zone, and you learn to be more comfortable than you were before with a with a broader perspective, which makes perfect sense.   Pat Wetzel ** 52:29 And I think, as you bought in your comfort zone, and as you go through that type of activity again and again, you become more and more open to this amazing world we live in.   Michael Hingson ** 52:40 And it really is an amazing world. It's an incredible place where there is so much that we get to explore and so much that we get to do.   Michael Hingson ** 52:50 I, I get very frustrated so often because people are so I'm curious.   Michael Hingson ** 52:58 After September 11, I thought this was an amazing story. One of the things that I did the next month was I went to British Columbia to speak to a guided group. And they arranged for me to do some different interviews on Canadian Broadcasting Corporation, television. And I was on one show, but before the show, I was in the green room with several people, including somebody from a major Think Tank, who was a past Prime Minister of Canada.   Michael Hingson ** 53:28 And this was just after we, in the United States invaded Afghanistan. And so I asked this person, what do you think of George W. Bush? And they paused for a second and then said,   Michael Hingson ** 53:45 the real thing about him is he's the most uncurious person that I've ever met and ever knew. He relies on everyone and doesn't ever really explore for himself. I never expected that kind of an answer, but I can appreciate it. And it's so true for so many of us. We just don't explore for ourselves. We just take what people tell us and then we go on. I think that's very true. And I think cultivating curiosity should be high on everyone's list. Because it opens opens doors you would never expect. Oh, absolutely.   Michael Hingson ** 54:23 I remember my father when we lived in Chicago was a TV repairman. He and my uncle owned a shop. And he said to me a few times when I was there and they were working on TVs he said no, don't stick your hands inside the TV because you'll get a shock. And I don't think I ever deliberately did it. But I got close enough a couple of times that I did get a shock.   Michael Hingson ** 54:45 I only used one hand   Michael Hingson ** 54:48 and and he said you know what did I tell you? And I said Well, I I didn't say anything I said yeah. He said let me unplug it and then you can look inside and he unplugged it and made sure things were discharged. I got to look   Michael Hingson ** 55:00 inside of a television, which back in those days was all about vacuum tubes and other things. So as before, as they say TV went dark, and it was all transistors, but he encouraged curiosity. And I think that that's so important that we all need to encourage curiosity. And also, I realize it's gotta be a real tough world for kids right now. And parents need to recognize you can't helicopter your kids, you can't shelter your kids, you can watch. But you got to let kids grow up. I read an article a couple of weeks ago, that was talking about what's the most important thing that we can do for children today? And the answer basically, was let kids explore, it doesn't mean that you don't monitor them. But we have to find ways to let children explore and learn more about the world. And I understand there's a lot of terrifying things out there. But if we don't let children explore, they're never going to learn. And this article pointed out that all they do is they grew up being afraid.   Pat Wetzel ** 56:00 You know, I think that's true, we're probably close to the same age. And when we were growing up, nobody wore helmets, we rolled in the dirt. You know, we just didn't have this fear, that seems to be bred into a lot of young people today. And I would wish for anybody who's young, to please pursue whatever interests you. And you have so much at your disposal, at this disposable. Everything on the web, my gosh, you can learn almost any these days, it's it's just remarkable. And you as a young person, your mind is so agile and open, quit, pursue whatever it is that spins your wheels. I do think that in reality, things like wearing a helmet that you mentioned, and other things are important. Because if you are in an accident, and they will help protect you, but you shouldn't do it out of fear. You should do it because we've learned how to advance and use tools and technology to help us be better and stay safer. It. It shouldn't be done out of fear, though. And that's the problem.   Pat Wetzel ** 57:12 Oh, I agree with but I'll also throw in one other thing. There's nothing like the wind moving through your hair. Yep. As your race down a hill. It's fun. It's exhilarating. It connects you to the world around you. So I think that there's a place for safety. And I think there's a place for risks. Oh, absolutely. No question about that. But But I think that one, they're not mutually exclusive. And one doesn't preclude the other and you just need to, to be wise about what you do. Tell me a little bit more about you and sail planning. That is a lot of fun.   Pat Wetzel ** 57:51 I kind of stumbled into it. To tell you the truth. I never expected to fly. But I was on a cross country trip. And I stopped at the Calistoga This was back Oh around 89 or so. And back then we'll country was still. It wasn't as polished as it is now. And Cal Stoeger was kind of a dumpy little town at the north end Valley. And I noticed that there was a runway and airport runway that intersected the Main Street. And I thought this is so strange. And so I went over to check it out. They had glider rides. So I took the ride in really well me that it was okay, but didn't allow me. Went back got back. And I heard about some lawyers of poor flying South Plains on weekends. And I invited myself out for a three day weekend. And I was hooked. And that was just the beginning of the end. I went on to move to another club. That was very competitive. Everybody had these beautiful high tech planes. I got it a plane. And I learned to I really learned to soar. It's a metaphor, and it's a sport. How far have you sort? That is? What's the longest flight you've been able to take? Oh, gosh, I'll say about 500 kilometers. Wow. And what do you do with the end of it? Do you? Do you turn around or do somebody come pick you up? Or what hope you land at the same airport? Oh, all right. So you go in a circle, you're not going in a straight line? Well, you can somebody a lot of people do straight out flights. I mean, there's it's it becomes a sport after a point where you're going for time you're going for distance you might go for altitude.   Pat Wetzel ** 59:35 And the other challenges in them I think in general with cross country soaring. Part of the challenge and the risk is getting back to your home airport. Because if you land out when I was flying, I started playing in the 90s before cellphones. So when you landed out, you didn't have GPS, you didn't know exactly where you were. You didn't have a phone. You had to make sure your plane was you know   Pat Wetzel ** 1:00:00 saved, then you had a hike out, find a phone somewhere. Hopefully they knew where you were, call back to the airport hope somebody picked up the phone and hope that some people would come and get you and help disassemble the plane and get it out of what field he lived in.   Michael Hingson ** 1:00:19 Landed in. So it was really been an adventure on a number of levels. I remember when I was growing up in Palmdale, my father worked at Edwards Air Force Base, we went to the air shows every year. And I don't know what it was one year, there were a large number of gliders that were participating in the airshow. And this one pilot got in his plane. And he fluid not up in the air. But literally, he was able to just get it up on his wheels are on one wheel. And he flew the plane on the ground just in one position, but it didn't tip over. And he did it for like about a half hour, which was kind of fascinating. Wow, that is interesting. No, I think   Pat Wetzel ** 1:01:04 I think soaring is just an amazing sport on so many levels. And I think it's most amazing, because you're glitched to be able to do this, you work hard to get the skills. I mean, they're not given they don't come overnight. But the idea of wearing down a mountain lion or being up at over 30,000 feet. And just having this incredible view of the Earth from above. In a craft that is Island. Barron Hilton once wrote, Barron Hilton, founded Hilton Hotels and had a ranch in Nevada. And he sponsored an international soaring competition every year. And he has a book where he wrote, There was a foreword in the book by Baron Hill. The book is called silence in the wind. And he noted that a sail plane was a craft fueled only by the mind of the pilot.   Pat Wetzel ** 1:01:56 I can see why. And I think that's a great metaphor again for life. The decisions you make the peace, you find your work with the invisible energy around. And that's how you got your life. Now, do you still sore? No, I still be playing a number of years ago, I think I risk parameters were changing, hanging out 100 miles from the middle of nowhere, hoping somebody would come get you was getting old.   Michael Hingson ** 1:02:22 You just needed to turn around sooner. There you go.   1:02:28 Well,   Pat Wetzel ** 1:02:30 another question about bumps in the road, the book, you have an online companion to it. Tell me about that. Yeah. I, I wanted it to be a multimedia experience and allow people to delve deeper into the stories, I have some very edited excerpts from some of the key parts of the cast each of my guests, but you can listen to the full podcast, which is in some cases only available as a subscriber. It's free for everybody buys the book, there's video, there are pictures so you can get a more comprehensive view of the guest. And I also have a workbook, because I think that the wisdom in all these stories is something we can explore within ourselves. And I give people some prompts and some ideas for how to take this wisdom and how to take these stories and apply them to their own lives for their own benefit. Is there an audio version of bump in the road?   Pat Wetzel ** 1:03:25 The audio version is actually being recorded right now as we speak. And I think it should be available in two or three weeks. Oh, good, because then I can buy the book and get the full subscription to the podcast. Absolutely. That's super. Where can people get bumps in the road? Amazon, of course.   Michael Hingson ** 1:03:45 Makes sense. Well, that's, that is really cool. Well, I really am grateful that you came on and spend some time with us today, talking about all of the things that we got to talk about. If people want to reach out to you. How do they do that?   Pat Wetzel ** 1:04:00 They're the website bump in the road.us. The mail is talk t a l k @thebumpintheroad.us. There's a ton of information on the website interviews, audio visual components, it's a great website quite honestly, please come and explore it.   Michael Hingson ** 1:04:19 Well, I hope people will.   Michael Hingson ** 1:04:22 You are fascinating. You've got a lot of good stories and you've offered a lot of really great information and wisdom that I think we should all take advantage of and I really value and appreciate you being here and if you hadn't sold your plane I would save that someday I'll be back there  we could go soaring. I've never done it. We'd love to but we'll figure something   Michael Hingson ** 1:04:43 that sounds good. But thank you for for being here. I want to thank you for listening we value your thoughts so as always, please feel free to send me an email at Michaelhi at accessibe.com That's m i c h a e I h i at accessibe A c c e s s i b e.com, or go visit our podcast page, www dot Michael hingson.com/podcast. So that's www.michaelhingson.com/podcast. And we would love to get your thoughts. Wherever you're listening, please give us a five star rating we value your readings. But most important of all, we really value hearing from you we value your your thoughts, and input. And if you know of somebody who should be a guest on unstoppable mindset, please let us know please introduce us. Same for you pad if you know someone who ought to be a good guest, we would really appreciate it. And sounds like you

The Caregiver's Journal hosted by Lance A. Slatton and Denise M. Brown. The Caregiver's Journal is the show where we are sharing the caregiving experiences, stories, and wisdom of family caregivers. Chapter 2 - "The Path to Diagnosis": In this journal entry, we welcomed Jesus Loreto, Sharon Hall, and Effie Parks who shared their stories and experiences on "The Path to Diagnosis". Jesus Loreto: Jesus is a Certified Caregiving Facilitator and member of the Patient Advocacy Council Guthy Jackson Charitable Foundation Caregiver for his beautiful wife Maria Elena who was diagnosed with Neuromyelitis Optica NMOSD (NMO) for 16 years. Jesus had been running a caregiver's support group for almost a decade and found it very rewarding to help others to navigate their diagnosis and manage their disease day to day. Jesus believes that by telling your story you can save lives, you make people realize they are not alone. They have readjusted to their new normal, and love life. They live with NMO but NMO is not their life. Sharon Hall: During Sharon's 18 years of caregiving, she has navigated the medical community, the social service community, and the support community. Her husband was diagnosed with frontotemporal degeneration, so she has added experience in young onset dementia.She was a care partner speaker at the Research Summit on Dementia Care and Services at the NIH in 2017. She has also presented at the 2017, 2018 and 2019 National Caregiver Conferences. Sharon has been a speaker in many webinars on dementia. She facilitates a local support group and an online chat for care partners. She also has a podcast with a dementia expert to give families much needed information. Sharon also contributed to the “Fighting Alzheimer's” insert in USA Today. Sharon is active in social media within the dementia community.  Effie Parks: Effie Parks, originally from beautiful Montana, has become a guiding light in the rare disease community following her son Ford's diagnosis with CTNNB1 syndrome. Settling in Washington, she transformed her family's journey into a crusade for advocacy, support, and empowerment for families navigating similar challenges. As the host of the "Once Upon a Gene" podcast, Effie has been recognized for several awards including WEGO Health and Podcast Magazine for her impactful storytelling and resource-sharing in the realm of rare genetic disorders. Effie extends her advocacy through speaking engagements at medical and patient advocacy conferences, sharing her experiences and insights from her work to bridge the gap between all rare disease stakeholders. Her skill in community engagement, developed through her advocacy, empowers her efforts in building a supportive network and raising awareness. With a mission to leave the world better than she found it, Effie is dedicated to fostering a more informed and empathetic environment for those impacted by rare diseases. Her work embodies resilience and compassion, inspiring and uniting the rare disease community. Effie's journey is not just about sharing stories, it's about driving change and creating a lasting impact in the world of rare genetic conditions.    Visit The Caregiver's Journal Official Website:  https://thecaregiversjournalpodcast.com/ Connect with Lance A. Slatton: Official Website: https://www.lanceaslatton.com Official Website:  https://www.allhomecarematters.com Connect with Denise M. Brown: Official Website: https://join.caringourway.com/

As a fellow traveler on the path of special needs motherhood, I found a kindred spirit in Effie Parks, a standout voice in the rare disease community who sat down with me for an honest, empowering conversation. Effie and I explore the sensitive topic of language and how it is used in our caregiving and advocacy. We challenge some common narratives we saw perpetuated through social media in 2023 and offer alternatives ways of thinking and relating to ourselves and each other. Effie also shares her exciting new initiative, Once Upon a Gene Therapy. Her mission is to empower fellow caregivers, through walking, to remember who they are and find strength through movement & community. Connect with Effie Parks:Effie Parks doesn't mind being called "strong": ArticleOnce Upon A Gene Podcast: SpotifyOnce Upon A Gene Podcast: AppleOnce Upon A Gene Therapy: Walking Club FB GroupOnce Upon A Gene InstagramOnce Upon A Gene WebsiteConnect with Kara, host of The Special Needs Mom Podcast:Instagram: https://www.instagram.com/thespecialneedsmompodcast/Website: https://www.kararyska.com/Coaching OpportunitiesPathway to Peace {Group Coaching Program}: Schedule a Consult or Get More InformationActivation Session: An Activation Session is a mini-coaching session, which is recorded and shared as a podcast episode! It's a great way to get a complimentary taste of coaching AND support you in this community! Sign up for your session here! Come join The Special Needs Mom Podcast Community FaceBook Group!! Click here to Request to Join

Once Upon A Gene is a Podcast for families living with rare diseases. There are personal stories and resources shared to help connect us with our community. Although I only linked Apple podcast below, Once Upon A Gene is available on any player of your choice and has a YouTube channel. Effie Parks, originally from beautiful Montana, has become a guiding light in the rare disease community following her son Ford's diagnosis with CTNNB1 syndrome. Settling in Washington, she transformed her family's journey into a crusade for advocacy, support, and empowerment for families navigating similar challenges. As the host of the "Once Upon a Gene" podcast, Effie has been recognized for several awards including WEGO Health and Podcast Magazine for her impactful storytelling and resource-sharing in the realm of rare genetic disorders. Effie extends her advocacy through speaking engagements at medical and patient advocacy conferences, sharing her experiences and insights from her work to bridge the gap between all rare disease stakeholders. Her skill in community engagement, developed through her advocacy, empowers her efforts in building a supportive network and raising awareness. With a mission to leave the world better than she found it, Effie is dedicated to fostering a more informed and empathetic environment for those impacted by rare diseases. Her work embodies resilience and compassion, inspiring and uniting the rare disease community. Effie's journey is not just about sharing stories, it's about driving change and creating a lasting impact in the world of rare genetic conditions. Two Disabled Dudes: https://twodisableddudes.com/ "Chasing My Cure: A Doctor's Race to Turn Hope Into Action; A Memoir" - Dr. David Fajgenbaum: https://amzn.to/3OpBzLg "The Ataxian" documentary (Amazon Prime): https://amzn.to/4bg53oS Connect to Learn More: Website: https://effieparks.com/ Email: hello@onceuponagene.com FB: @OnceUponAGene IG: @onceuponagene.podcast Apple Podcast: https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Episode Transcript: https://docs.google.com/document/d/1Q6gNJc9HGU7HRMdEA8I2R3G-fHJI8qdT/edit?usp=sharing&ouid=117716030289987185197&rtpof=true&sd=true As an Amazon Associate, I earn commissions from qualifying purchases. For more information about True North Disability Planning you can find us here: Web: ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://truenorthdisabilityplanning.com/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Waypoints - ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠https://waypoints.substack.com/⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ Facebook: @TrueNorthDisabilityPlanning X (Twitter): @NeedsNavigator --- Send in a voice message: https://podcasters.spotify.com/pod/show/abcs-disability-planning/message Support this podcast: https://podcasters.spotify.com/pod/show/abcs-disability-planning/support

29 February marks Rare Disease Day. This day is an opportunity for the rare community to come together to raise awareness of the common issues affecting those living with rare conditions. A rare condition is a condition that affects less than one in 2,000 in the population, and although rare conditions are individually rare they are collectively common. It is estimated that there are over 7,000 rare conditions. Around 80% of rare conditions have an identified genetic origin. In this episode of the G Word, our host Julia Vitarello, Founder and CEO of Mila's Miracle Foundation, is joined by Rich Scott, Interim CEO for Genomics England, and Ana Lisa Tavares, Clinical Lead for Rare Disease Research at Genomics England, as they discuss challenges for those living with a rare condition and the work being carried out across the genomics ecosystem to support them. Julia is the mother of Mila, a young girl who was diagnosed with a rare genetic condition called Batten Disease, and in this episode Julia takes us through Mila's story, and how she hopes to help many more families access treatments for their children.   "So when parents, children, are diagnosed whether it's a fatal or life-longing debilitating or difficult disease, if you know that what's being learned from your child both from just the genomics to the potential treatments that's helping the next child, that helps parents like me be able to continue living."   You can find out more about Mila's story in our previous podcast episode with Rich Scott, Julia Vitarello and Dr Tim Yu.   You can read the transcript below or download it here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Rare-Disease-Day.docx  Julia: Welcome to the G Word So my life at that point seemed to just disappear in that moment, all the things that had mattered to me were gone; I knew there was something wrong with my daughter but I had absolutely no idea that a typical child who was outgoing and active and verbal and had friends could suddenly lose all of her abilities and die. My name is Julia Vitarello, and I'm your host for today's episode. Today joining me in conversation is Rich Scott, Interim CEO for Genomics England, and Ana Lisa Tavares, Clinical Lead for Rare Disease Research, also at Genomics England. Today we'll be discussing challenges for those living with a rare condition and the work being carried out across the genomics ecosystem to support them. If you enjoy today's episode, please like, share and rate the G Word on wherever you listen to your podcasts. The 29th of February marks rare disease day. This day is an opportunity for the rare community to come together to raise awareness of the common issues affecting those living with rare conditions. A rare condition is a condition that affects less than one in 2,000 in the population, and although rare conditions are individually rare they are collectively common. It is estimated that there are over 7,000 rare conditions. Around 80% of rare conditions have an identified genetic origin. Before I get into speaking with Rich and Ana Lisa, I wanted to share my story and my daughter, Mila's, story. My life as a mother started really like anyone else's, my daughter was perfectly healthy, her name is Mila. For the first three or four years of her life she was like any other kid. I live in Colorado in the United States, my daughter was a skier, she was a hiker, she was rock climbing, she was incredibly active and singing songs and swimming and riding bikes. But around four years' old she started tripping and falling, she started pulling books and toys up closely to her face; she started being covered in bruises, getting stuck on words and repeating her sentences and I brought her to about 100 different doctors and therapists around the United States to try to figure out what was going on with her. Around four years' old I started speaking with orthopaedic surgeons, with ophthalmologists, with neurologists, with speech therapists and each one of them, you know, told me pretty much that I was a crazy mom and that my daughter was typical and normal and that she would grow out of these sort of strange symptoms that she was having.      By the time that she was six years' old, I had had enough and I was crying on a regular basis, no doctor could help me and I was tired of lugging my daughter, who was now covered in bruises and tripping and falling and stuttering, together with my newborn son at the time, kind of around the country only to be told that I was crazy. And at that point at six years' old I brought her into the emergency room in the Children's Hospital Colorado, near where I live. She was in there for about a week and underwent a battery of tests and at the end of that week I was told that my daughter had a rare genetic condition called Batten Disease and that she would lose all of her abilities and die in the next few years. So my life at that point, first four years of my life seemed to just disappear in that moment, all the things that had mattered to me were gone. I knew there was something wrong with my daughter but I had absolutely no idea that a typical child who was outgoing and active and verbal and had friends could suddenly lose all of her abilities and die. After crying on my closet floor pretty much most of the day for a few weeks I picked myself up. I started to read white papers, I started to go online and learn about other rare conditions. I started to speak with parents that had fought for their children with physicians, with researchers, and did everything I could to kind of figure out if there was even a glimmer of hope. And what I was told at the time at the end of 2016 was that there is almost nothing that could be done and very little was known about my daughter's form of Batten Disease. But that there was a tiny glimmer of hope that we could maybe stop genetic disease, and that's all I needed. I started Mila's Miracle Foundation, which is a non-profit organization. I started telling Mila's story and taking care of my kids by day and trying to fight and learn and raise money by night and I started a gene replacement therapy because it was the only option that I could take on as we didn't know much at all about the disease, and by replacing it, it was kind of the only thing that I could do, but it was going to take many years and millions and millions of dollars and I knew that it wouldn't be in time for my daughter. Along the way, there was something a little bit unusual which was that my daughter had an auto recessive disease which meant that she needed to have a mutation in the same Batten causing gene from her mom, myself, and her father, and they could only find one of these two. That led me to learn about whole genome sequencing, which was kind of the most extensive way of looking at Mila's genome to figure out where this missing mutation was. And in that search I crossed paths with a Dr Timothy Yu at Boston Children's Hospital, and he volunteered with his lab to help me find this missing mutation that no other lab could possibly find. And within a few months and a lot of work, a lot of late nights and weekends and staring at screens, through whole genome sequencing, the team was able to find Mila's missing mutation and finally diagnose her fully with this rare form of an already rare Batten disease. That is where Mila's story changed and turned direction. At that point, a recently approved drug for spinal muscular atrophy was on all neurologists' minds at that moment because it had just been approved in the US by the FDA and in other countries, and it was a game changer, these children were dying and on respirators and in wheelchairs you know at the age of two and with this new drug they were actually living, many of them were living long lives and were active and happy and healthy and going to school. And Mila looking her whole genome sequence was able to kind of fit that same criteria, and so the doctors, including Dr Yu said, “What if we did the same thing for these children? What if we made a drug like this for Mila?” This drug called Antisense Oligonucleotides, or ASO seemed to be a good fit for Mila's mutation. And so a drug was made for Mila and named after her called Milasen and it was a race against time for an entire a year with a team of honestly hundreds of people across academics and industry, I was fighting to try to raise the money and awareness and working with a scientific team. And one year after Mila was diagnosed when she turned seven years' old, we moved to Boston and Mila began receiving Milasen, which was named after her, and only in that moment in time did I realise not only what a big deal this was for me as her mother, but what a big deal this was for science. She was the first person in the world to receive a medicine that was tailored just to one person and it was named after her because there was no-one else in the world they could find that shared that same mutation. When Mila began this, you know, I didn't know what to expect but I knew that she was going to lose all her abilities and die if she didn't receive this. And so once she started receiving this within just a few months, her 30 seizures a day went down to nothing; she had occasional small tiny seizures that were barely visible but her quality of life was incredibly you know improved, not to mention our family's because she was no longer thrashing and smashing her arms and legs up against walls and tables. She had been slumped and could no longer sit up. She could no longer hold her body up and take steps with my support from behind and after Milasen she started being able to do that even walk up the stairs with alternating feet with me supporting her from behind. She also had received a G-tube and was receiving all of her nutrition through the G-tube and after Milasen she started eating by mouth, it wasn't perfect, but she was eating pureed foods, and being able to swallow better and probably most importantly she was able to smile and laugh at the funny parts in the books and the stories that I had been reading and singing to her and that she had kind of really not been responding to as much before Milasen and some of that came back. So, a year into this everyone was quite shocked that Mila had done so incredibly well in this first year despite how progressed she was, progressed her condition was. Unfortunately in the second year it was during COVID and it was unclear whether or not Mila's disease had kind of stopped or whether it was slowly progressing and in the third year Mila started having problems associated with her rare condition and I was faced as a mother with the most horrible decisions anyone should ever, never, never, never have to face to decide what Mila would want if she were able to talk and tell me whether or not this was a life that she felt like she would want to live. And after three years on Milasen, which was three years ago almost this week, Mila died and in many ways my life as I knew it was kind of over. I'm a very positive happy person and I have a son and I continue getting up every day and pushing through the day but I'm not sure how any parent makes it through days, weeks, months and their whole life without their child physically there with them. Ana Lisa: We can really hear the perseverance that you had to get a diagnosis through whole genome sequencing eventually for Mila. Can you tell us a little bit more about that process and what that diagnosis, what did it mean for Mila and for your family? Julia: When Mila was first diagnosed with Batten Disease, one of the missing mutations could not be found by any lab. I did research and found out that whole genome sequencing which at the time was very, very hard to find a lab that would do it or anyone that would do it in the United States, I did learn that that was really what was needed in order to try to really get down to find the underlying genetic cause of Mila's disease and give her a full diagnosis. So once we managed to have Dr Yu's lab at Boston Children's Hospital carry out the whole genome sequence, obviously we were able to then find exactly where the broken, underlying broken kind of genetic mutation was and why that was important was for two reasons: 1) was so that we could actually have a diagnosis and even though it was the worst diagnosis we could have ever asked for, at least there was an answer and for so many years I didn't have an answer and there is nothing worse than seeing your child, you know, having all of these different symptoms and problems and having you know tens, if not hundreds, of different doctors and therapists tell you that they don't know and maybe you're just a little bit over-worked and over-worried about things, and having no answer and no idea what's wrong is like living in this limbo that's just terrible. And so whole genome sequencing allowed for us to have a full diagnosis for Mila, and it also allowed us to use that data since it was truly the precise place where, you know, we could find the precise plan where her gene was broken. It allowed the researchers to then also think about what could be done about it as well, which is the second thing a parent thinks about after they have the kind of relief in some ways, which is a strange word to use but it's true, of knowing what is wrong and then thinking, “What could I do about it now?” And so for me I would say that's how, Ana Lisa, that's how I reacted to that, is there was enormous relief initially, which is just the weirdest word ever to use for that but at least I felt like I wasn't crazy and that there was an actual reason and that it allowed us, allowed me and others to think what kind of action can we take now. Rich: One of the things that often strikes me, I'm a clinical geneticist by background, just like Ana Lisa, is how often particularly several years ago when we were in a different situation, it depended on families and parents pushing and pushing and pushing and asking, that's something I think in the UK we're really lucky that there have been changes in terms of availability of testing. Julia, as you know, we were set up ten years ago initially to run a project, a research project in partnership with the NHS called ‘The 100,000 Genome Project' asking the question about whether whole genome sequencing could be used in a diagnostic setting. Whole genome sequencing had just emerged as a thing that could even be conceived of as affordable in a healthcare system back then, and we worked with the NHS and tens of thousands of families with rare conditions and people with cancer to ask that question and again, we're really proud of what that work and our partnership with the NHS has led to, which is now in the UK. There is the availability nationally of whole genome sequencing to test in certain settings including in rare conditions that are hard to solve in this sort of way and it's one of the things which has really changed the way we can go about this, but we also know that there's still, it's still hard often to identify who should be seen by a specialist who might do a test and so on. But it has really changed things and I think it's hearing from families like yours about how challenging it is and thinking about how we turn, looking across all of the story that you told us of everything you went through, how we can make that be something where we can make it be more systematically available and work for many more people, and I know your phrase from Mila to millions really strikes a chord with me, and I know with the NHS mind-set here in the UK where it's about equity of access and I think that mind-set that you bring is so important. Julia: Yes, Rich, I think it's a really good point you know, because a lot of parents like myself, we're talking about probably millions around the world and tens of thousands just in the UK alone, spend so much time going from one physician to another and to a therapist and it takes an enormous amount of energy and time in a family that's already dealing with pain and confusion and not understanding what's going on, not to mention usually that child, in my case, Mila, is having problems that it's not easy to leave the house and get in the car and go to all these appointments. And the more we can push towards whole genome sequencing as one of the first places to go, if not the first place to go, the more it's going to cut that sort of diagnostic odyssey down to the very bare minimal. And so of course a dream would be is that any child that has, I like to think of it as soon as you kind of have more than one symptom that shouldn't normally go together, that sort of has a little red flag that goes off and in most parts of the world right now no physician wants to scare a parent like me, it's happened a number of times to me where a physician has said, “Well, you know, there is this rare condition but I'm not going to bring that up because it's so rare that the likelihood that your daughter has that, I wouldn't want to scare you.” But the more we can move towards whole genome sequencing right away to help with that answer that could cut months and very often years from that odyssey, and that is where we need to be, we can't have the tapping on the knee and stacking up blocks and running down the hall for months and years just to figure out what's going on. Ana Lisa: And I think Rich also there said a power of having a national healthcare service where patients who are having whole genome sequencing can also decide whether they wish to consent to be part of research and combining that with a national genomic research library and then the ability to work so closely with the NHS and go back to patients if there is a new diagnosis that could benefit them is really powerful I think, and that's definitely one thing that we've also learnt from these big whole genome sequencing efforts is that our knowledge is continuing to develop and some people will get a diagnosis from that immediately and we've got amazing colleagues working on diagnostic discovery looking at whole cohorts of patients now who are having whole genome sequencing and that's also been really informative and allowed a lot of new diagnoses identified also through research and through these efforts to be found. Julia: Absolutely and I think that the UK is incredibly well suited to have such widespread sort of country-wide whole genome sequencing project like what Genomics England has done because you have one system where all of the clinical and genetic data can all come in and kind of be analysed both for like you said diagnostics but also it could be, if families and patients are interested, right, in contributing to the research which then comes full circle and helps the entire system benefit from better treatments you know and better understanding of diseases. Rich: And that point of sort of thinking about how to move things forward, so the NHS has a service based in Exeter which is addressing the question where children are on intensive care, where often intervention is needed really rapidly to make a difference, so that's one of the examples where sort of thinking about making sure that service is available early and rapidly is being set up and that's been really successful and identifying a cause where that really changes the care of that child on intensive care. The other area where we're working really closely with the NHS at the moment, as you know, Julia, and in fact I think this was probably one of the reasons we first came to talk to you was thinking about our newborn genomes programme where if you like, the big question there is saying we know that there are a few hundred conditions that are within that longer list of rare conditions where there is a treatment available routinely if the diagnosis is made, and saying could we use whole genome sequencing alongside existing newborn heel prick testing which in the UK currently looks for nine, shortly to be ten, conditions. So we're just about to launch that programme and that will sequence the genomes of 100,000 babies born at maternity hospitals, not selected for children where there's something, a concern, raised, but any baby at that hospital would be eligible for the family to choose to join that research programme and really to ask that question about whether this is something that we should offer to all babies developing the scientific evidence around it, learning about how you might implement it in practice, and also having conversations about how one might do that, what public attitudes are to it and so forth, developing evidence that can move us forward in that area too. And back to Ana Lisa's point about improving knowledge, we know that today there are a certain number of conditions that one might think are comparable to those nine that are currently looked for in the UK on the heel prick that we could use genetics as a way in. We also know that through the sort of innovation and the new knowledge that you mentioned that was relevant to Mila, that list might grow quite considerably in the coming years, so it's thinking about how we set ourselves up to make sure that we're able to take advantage of that to its full. Julia: Yeah, and I think it's a great, I'm glad you brought this up Rich because the UK really is leading the world in this, there is no-one else that is doing whole genome sequencing at birth, and ultimately, that's where we need to be. You know it's not going to happen overnight and like you said, the purpose of this is really to learn a lot about how and if to roll this out maybe in a larger scale way across the UK. But ultimately, you know, as Mila's mom, I think all the time about you know how incredible what I saw at a very progressed state for Mila with this treatment and the only way to actually really truly help Mila and other Milas is to get to these children early enough so that they're diagnosed before they have symptoms and they're treated before they have symptoms. And the way to move towards that is to at least have efforts like the project, you know, the newborn screening project so that we can get to children, find them before they have symptoms, treat them before that and from what I saw from Mila I feel pretty strongly that if Mila had received Milasen at birth she might never know the effects of Batten Disease, and we as a family might never know what it's like living with a rare condition, and this is a step in that direction to help. Effie Parks: Hi there, I'm Effie Parks, mom to Ford, who lives with a rare neurodevelopmental disorder called CTNNB1 and the host of the Once Upon a Gene podcast. Our show connects families facing rare diseases, offering stories from parents, insights from experts and discussions on everything from navigating grief to exploring genetic advances. It's a space for understanding, connection and empowerment. For support and inspiration on your rare disease journey, subscribe to the Once Upon a Gene podcast on your favourite podcast app and let's navigate this path together. Ana Lisa: Julia, I'm interested to hear what you think the development of individualised medicines like the N1 treatment Mila had what that means for the sort of collaboration that's required across the genomics ecosystem to achieve that. Julia: Yeah, that's a really good question. It's been seven years that I've been thinking about this kind of individualised medicine concept, you know, as Mila kind of became the pioneer in this field and I'm not a scientist, I'm not a physician, but I've learned a lot because I've been fortunate enough to be part of thousands and thousands of conversations, including with all of you and others, Genomics England, and around the world and I think what I learned and what I've learned so far is that when you have a genetic condition most genetic conditions are individually rare and unfortunately that doesn't make them very suited to have anyone go after a treatment for them because really the only way to connect a patient, a child like Mila, to a science or technology is if they're lucky enough, and I hate to use the word ‘lucky' but they're lucky enough to be part of a large kind of cohort of people, and that allows them to be, you know, commercially viable, so a company will be maybe develop if they're lucky, a treatment for that, for those people. The only other option is this sort of like Herculean effort of which myself and Dr Yu and others went through, we had to raise millions of dollars and get hundreds of people to get on board and develop a novel medicine for one person – now how scalable is that? How many times can we do that, right? And so the only people that really have access to medicines today with genetic conditions are those that are fortunate to be part of one of these two groups, but what about everyone else which is 95% of the people? And so I think what the field is learning is that we kind of have the patients and we're finding them, especially thanks to Genomics England and others, we're starting to find them more rapidly earlier, more of them, and we have these technologies to be able to not only find them but to also treat them but we just do not have the infrastructure and the processes to connect them, we have clinical trials and we have these sort of named patient route but we don't have anything else. And so I think the genomics community, especially in the UK because it's so well suited with all the efforts that we've just brought up, is really well suited to kind of try to work together to allow for access kind of no matter how many people could benefit, it's not only one, it could be six or 20, or 200 or 500. Right now there is no access for them. So I think that the UK is really well suited, starting with whole genome sequencing, that's where it begins, it begins by identifying patients early enough and getting the data that's needed in order to diagnose them and also to help with the treatment you know, and so this is how I think the UK is really leading the world right now, including in the recent announcement of the rare therapies launch pad, which Genomics England is part of, I am part of, others are part of, Oxford Harrington Rare Disease Centre, the MHRA, others are all part of really trying to be dedicated to building the infrastructure and resources and processes that are needed to connect the patients to these technologies that exist today. Rich: I've been really inspired by the conversations and the drive that you, Julia, personally have given to those conversations. And I think what's really interesting and I think it's relevant more broadly than just in rare therapies particularly, but I think that challenge of recognising the need for the system to change to be able to respond to evidence and make the response proportionate to the expectations of various people, the patients or the families who are receiving it, the system as a whole, these sorts of therapies and rare conditions as well, are just not the shape that works well with existing paradigms, but I think it's relevant you know, in other settings as well. I'm really interested in some of the conversations that I've had with you before about balancing risk and understanding how to get that right and the fact that that really needs an open discussion in public to also understand the journey and the situation that families find themselves in. I wonder if you could tell us a bit about your perspective on getting that risk balance right? Julia: Thanks for bringing that up, Rich. I think it's really, really important because to me the way we think of risk and benefit and the risk tolerance maybe is a better way to put it is the foundation of the house that we're building. So, you know, the regulatory process and everything behind that are built on top of how we think about risk. And one of the things that I regularly think about is children that have end stage cancer, and that we as a society have accepted an enormous amount of risk for a child at end-stage cancer that has no other options that's going to die no matter what, probably very rapidly and that if they don't respond to kind of some of the main line treatments then to turn to an experimental cancer treatment which carries a very high risk is considered very acceptable by our society and that everyone, the clinicians, the families, the regulators, everyone is willing to take that risk for that child because they're going to die otherwise. And they're willing to spend money and they're willing to take the risk and often perhaps to buy that child maybe three or six months of life. So then if you look at Mila and if I tell you that instead of having a rare condition that she has an end-stage genetic disease, and I use the words from cancer, from oncology, is now suddenly the discussion changes a little bit, so Mila's going to die no matter what, no child has ever lived with her form of Batten Disease and she's going to lose all of her ability, so we know the risk of not treating Mila. The risk of treating Mila in this case was an antisense oligonucleotide, which is a modality that's been around for 30+ years, tested in animals and more frequently in numerous humans across different sort of trials. And the labs that worked on Mila's medicine felt that it was safe enough and hopefully efficacious enough. And at that point why is the hurdle so exponentially higher than what it would be for a child with end-stage cancer? The way that we are thinking about these children with end-stage genetic disease and end-stage cancer, is drastically different, so we need to first, to your point Rich, we need to start realising we've already set that precedent, we don't need to be having this discussion again. We know the risk we're willing to take for a dying child when there's no other therapeutic, no other option and they're going to die no matter what. So the risk of treating Mila, versus the risk of not treating Mila is black and white and we need to do our best and then we need to not only treat Mila but we need to learn from the treatment of Mila. We need to collect those learnings, they must be iterative learnings so that the next child that's treated with an individualised different ASO or different medicine that they don't happen in silos, but that all of this knowledge comes together so that the second and the third and the fourth and the tenth and the twentieth, the process gets better and faster and eventually cheaper so that it's accessible. Rich: Yes, and that's very much back to Ana Lisa's point on the link and for diagnostics too on continuing to learn and creating a system that recognises that that's crucial to offering the best care today but also in the future and being able to make proactive decisions more confidently if you're a policymaker, knowing that you'll continue to learn, you don't have to pretend you know everything today. Julia: It's very meaningful for parents. So when parents, children, are diagnosed whether it's a fatal or life-longing debilitating or difficult disease, if you know that what's being learned from your child both from just the genomics to the potential treatments that that's helping the next child, that helps parents like me be able to continue living. And so you know, research is this kind of generic word, I wish there were a better word for it. Really what it is, is it's learnings and it's what can be learned from my child that can help the next child? Ana Lisa: And then that learning requires a lot of collaboration, which is the super important part I think of your story. Julia: Yes, it does, it requires a lot of people starting with those diagnosing the children with whole genome sequencing all the way through just to the clinicians who are in the NHS, not to mention the researchers who are then looking at the data and bettering their understanding. Ana Lisa: I think there are also, maybe one can extend some of those parallels as well, in that I think currently we sometimes think of an individualised therapy of NF1 as being something that takes a lot of time and benefits an individual, and actually if we can really collaborate we can really set up processes that work across the ecosystem and keep learning, then I'd love to dream that actually this could help many, many different patients, with many, many different types of rare conditions because actually we've learnt how to target a little bit more at source, perhaps a particular type of genetic variant, and so a bit like cancer, we're not thinking about breast cancer, we're thinking about what sub-type, what genetic causes there are and targeting those, and if we can apply that one day more broadly across rare conditions then it might be that actually once you've learnt a certain amount, that you could scale up and treat many, many different conditions, not dependent on their frequency in the population. Julia: Yeah, that's a great dream, I share that dream. Rich, what is your, you've been in this for many years, what's your dream for the next five, ten years? Rich: I guess I have, I think there's two aspects to it. I think there's two, I think there's a lot of distance left to run for us improving on the diagnostics and I think thinking back to your conceptualisation of it Julia, of sort of thinking about how we can bring that earlier, whether that is that for example we're able to sort of more proactively flag when children have you know, more than one visit to a particular type of doctor or something that makes that happen much earlier in the process. So the tooling that we now know works whether it's whole genome sequencing or something more targeted can be used earlier in the process, or whether for example in our newborn genomes programme we get that evidence that we can look for a broader range of conditions in a screening context right at the beginning of life. And I think in five to ten years we should be in a substantially different place, we'll know whether or not we think whole genome sequencing should be there but offered for every baby at birth, and we can be much more proactive also when symptoms arise. I would also hope that on the side of therapies and intervention, we're in a substantially different position and I think, I've been amazed the last five years how my level of hope has increased. I believe we should now be in a position in five to ten years where those with a therapy that is potentially there to benefit them, should at least be able to be aware of it and there will be a clear pathway by which either that is available if it's proven, or there's a pathway that we all understand about how that can be trialled. And I think we're at the beginning of that journey and I now feel it's a responsibility of ours to work through how we can bring the right pieces into place, we can't prejudge the science, but we can set up the system that makes us be able to respond to it. Julia: Yeah, I remember Rich when you and I were speaking a number of months ago and maybe you could share the story because you talked about your hope kind of changing over time as a clinician I thought that was really powerful to me. Rich: Yeah, I remember it's probably now maybe 15 years ago being asked by a family about what my advice would be to them on the likelihood of there being a treatment for their child's particular condition being available and in fact they asked me to do it in a way that I sort of provided a formal written report to them that I spent a lot of time thinking about and agonising over and was very honestly you know saying it was highly unlikely that something would become available. If I had to write that same report today it would be very different. Julia: That's so promising to hear that. I don't know, Ana Lisa, have you had any experiences like that in the past that you feel differently now of how you would approach a family like mine? Ana Lisa: I think it's a real balance between having that hope ourselves, sharing that hope with other people and not giving false hope and it's such a balance when right now more than 95% of rare diseases don't have a treatment and I think that's such a difficult position to be in right now. And everything we've been talking about gives me massive hope for the future and a lot of what we're pouring our energy and efforts into is both the diagnostics so that we're not trying to make a puzzle with missing pieces in the dark and that's mission-critical, and then the real hope that actually this will drive therapies, which is what we really want for everybody who needs a therapy to have a therapy that's effective, whether they've got a common condition, a rare condition and that's our driving ideal. So I think I'm full of hope and optimism and I hope that it will accelerate, that's what I really hope, the momentum will build and we'll get to a certain level of knowledge, we're learning the processes, we're learning the evidence, we're learning the collaborative models that are needed to really suddenly explode our ability to treat rare conditions. Julia: Yeah, you know when Mila was, I guess when I look at newborn screening in the United States and Batten CLN7, which is Mila's kind of sub-type of her condition is not on newborn screening tests because there is no treatment for it, but the whole genome sequencing that was done for Mila was the data that we got from that was what was needed to create a treatment for her and so it's an unusual case where she was sequenced and a child and a baby, a newborn in the UK could be sequenced and not only told that they have a disease, so they have time to kind of understand the disease more but also potentially kind of prepare for a treatment that might be in the pipeline, but that data is also going to help scientists and researchers create new treatments that may not be available when that child is born but that's the data that's needed to create the treatment. Right now you guys are you're really at the forefront of solving both halves of the what I consider like a rare condition, you know, global health crisis with tens and hundreds of millions of people that have you know families like mine, like my story sounds unique, it sounds impossible but there are tens of millions of other people like me, like my story sounds unique, it sounds impossible but there is tens of millions of other people like me and so to have the UK kind of leading this effort to solve both halves of the problem, the diagnostic half, you know, what disease does a child have and find it in time and also kind of the treatments, here's where we're headed, and if we don't solve both of those problems then there is no such as access, you know to a better life, so I'm really grateful for the fact that you've set a precedent for other countries because now finally there are other countries that are looking towards you and kind of really trying to do the same thing that you're doing. Rich: Yeah, well I think we feel we're uniquely placed; the NHS in the UK and for Genomics England our partnership with the NHS, together with a number of other factors and I think the recognition from government as well as the NHS over a long period that the importance and the power of genomics and the importance of for example, making changes to regulation to get it right mean that it's something that I think we feel really privileged to be in the position to even be able to ask these big questions. Julia: yeah, I think the UK is really uniquely suited to have hung their hat on genomics so that the topics you're taking on are very central, they're not kind of on the sideline, they seem whenever I'm in the UK they say that what Genomics England is doing is at the forefront and in the middle of all the discussions with academics and companies and regulators and government. What do both of you think are the, what are the biggest kind of hurdles we have coming a few years in the newborn programme or you know, any of your other initiatives? Rich: I guess all of these are big questions and I think we need, it's back to that sort of point from Ana Lisa sort of balancing the hope and expectation, I think we're uniquely placed to develop the evidence really clearly and one of the things that we again think is so important is having this conversation in the public about it and developing a shared view, almost you know, it drives policy but it's also something which I think the whole of society needs to sort of think about how we address and what we want to do collectively. I wouldn't place it as a barrier but I would highlight it as a strength that we've had and I think we're hopeful that we'll continue is that long-term commitment in terms of government and the NHS and I think that's really powerful in this space to maintain the UK's position as being able to ask these questions and to show that leadership. Ana Lisa: And to bring together, we need to work really closely across the ecosystem. So in my mind one of the challenges is if one part is missing then that person is not going to get the treatment and how we keep joining up these really important dots across the whole ecosystem to make sure that most people will one day be able to get a treatment. Julia: And all those dots honestly, those dots can never even start unless you have a diagnosis and it's in time. And so there are so many people around the world working on each of those dots that connect a child or a patient to a treatment, but if you can't even be diagnosed or if you're diagnosed too late, which is what the reality is in the world of rare conditions right, then you know, then it's a little bit futile to race to a treatment or even think if that's possible. So I think the very, very first thing is: can we find children and patients, like can we find children like Mila in time? And I love hearing the word ‘hope' that's the word that keeps me going and doing what I'm doing because if there isn't any hope it's pretty hard to keep fighting, so I'm really glad, thank you both for having hope. Okay, we'll wrap up here. Thank you to Ana Lisa and to Rich for joining me in this conversation today as we shed some light on the challenges you know that those with rare conditions are facing. We touched on the work being carried out across the Genomics ecosystem in the UK to support those living with rare conditions. If you'd like to hear more of this, please subscribe to the G Word on your favourite podcast app. And thank you so much for listening. I've been your host, Julia Vitarello. This podcast was edited by Mark Kendrick at Ventoux Digital, and produced by Naimah Callachand.  

Effie Parks, a rare mom, a patient advocate, a podcaster, and host of “Once Upon a Gene” joins David Rintell, Head of Patient Advocacy at BridgeBio to share her story. Recorded during the 2023 Global Genes Conference in San Diego, Effie talks about her journey into motherhood and into the rare community. Effie's son, Ford, was born with CTNNB1 syndrome, an extremely rare genetic condition. Isolated and trying to navigate her new life as a rare mom, Effie stumbled across Two Disabled Dudes and on first listen, realized she now had a community who understood her experiences. With this new understanding, Effie dove into the world of advocacy. CTNNB1 Syndrome is the result of a change to the CTNNB1 gene, which contributes to production of a protein called beta-catenin that has a role in cellular growth and development. While symptoms experienced by individuals with CTNNB1 Syndrome vary and are unique to each person, many individuals experience cognitive challenges, speech, swallowing or feeding difficulties, behavioral issues, motor developmental delays, or impaired vision. In the first episode of this two-part series, Effie shares the story of Ford's birth and diagnosis, the founding of her rare community, and her personal journey to becoming a patient advocate and podcaster. Her mission is to learn, lift the voices of the rare community, connect people to resources and to leave the world better than she found it. *Reference: https://www.curectnnb1.org/ctnnb1-syndrome/

We are thrilled to have Effie Parks and Daniel DeFabio in this powerful episode! Together, we discuss the pivotal role of the caregiver's voice in the realm of healthcare, particularly in the context of rare disease. Our dialogue revolves around the essential role of caregivers, whether they are parents, aunts, uncles, or other family members, in advocating for those who may not have the ability to communicate at all, as often seen in the case of children with rare diseases. Effie & Daniel help us understand why the distinction between patient and caregiver voice is crucial. Caregivers often become the primary advocates for individuals, especially children, who may have limited communication abilities, so caregivers must be included in the entire care process. Our conversation delves into the challenges faced by caregivers, particularly in the context of rare diseases, where caregiving responsibilities extend beyond traditional roles. Effie & Daniel touch on the complexities of balancing the roles of a parent and a caregiver. They share personal insights into the challenges of finding balance between urgent caregiving needs and the desire to engage in typical parenting activities. Hear us discuss the emotional and mental toll on caregivers and stress the importance of acknowledging both aspects of their identity. Links and Resources: Once Upon a Gene The Disorder Channel Global Genes

If you need a boost of inspiration, a bit of laughter, and a lot of intention, listen to our special guest on the Newborn Screening SPOTlight podcast Effie Parks, who transformed her experiences raising a son with a rare disease to helping others by sharing their stories on her podcast, Once Upon a Gene.  The best way to describe Effie may be as the rare disease parent's best friend… and greatest resource!   She was born in Montana, where she was raised with her 12 siblings.  After moving to Washington and marrying her husband, they were blessed with the birth of their son, Ford Canon Parks.  When she learned that Ford had been born with an extremely rare genetic condition – CTNNB1 syndrome – she immersed herself into the world of advocacy.  Now, she is the host of her own podcast, Once Upon a Gene, where she speaks to others about their journey through life with rare disease. Since the launch of the podcast, Once Upon A Gene was awarded “Best In Show Podcast” by WEGO Health. Podcast Magazine recognized Effie as one of the 40 Under 40 Podcasters and she has been nominated for two Champion of Hope awards from Global Genes. Her mission is to learn, lift voices of the community, connect people to resources and to leave this world better than she found it for others in the rare disease world.   Interview Questions:  You are the host of podcast of Once Upon a Gene, where you speak to others about their journey through life with rare disease. Your mission is to learn, lift voices of the community, connect people to resources and to leave this world better than you found it for others in the rare disease world. What inspired you to start your podcast?   Your baby was diagnosed with a rare disease called CTNNB1 syndrome. Can you tell us what led to the diagnosis and what happened next?   Researchers discovered the genetic testing for CTNNB1 syndrome. While there is no single treatment for CTNNB1 Syndrome, each of the symptoms associated with the syndrome may be treated. Also, CTNNB1 gene is a good candidate for genetic replacement therapy. This exciting to hear the new development and research in treatments. Could you share your process in caregiving to your child with CTNNB1 syndrome? Any advice for new moms? Newborn screening identifies metabolic and genetic disorders at birth. Before your child was diagnosed with CTNNBI, were you aware of newborn screening? What do you think prospective parents should know about newborn screening? You are the host of Once Upon A Gene podcast, can you tell us what inspired to start the podcast? On your Once Upon a Gene blog, you shared that the movie “Back to Future” and especially the main cast member, Michael J. Fox have inspired you. Can you elaborate in what ways to our listeners?  What has been going on in your life recently that you expected and didn't expect?  As you know NBSTRN creates tools and resources to help stakeholders to advance newborn screening research. How could NBSTRN and other organizations such as the Rare Diseases Clinical Research Networks supported by the National Center for Advancing Translational Sciences (NCATS) help you and your community to advance rare disease awareness?  Where can people go to learn more about you? What can people expect from you next?  What is one final thought that you want to leave our listeners with?  What does newborn screening research mean to you?  

Effie Parks from Once Upon a Gene is Here!!! Check out Effie's website here: https://effieparks.com

This is the first episode ever that does not feature both Dudes! Sean is joined by our friend and guest host, Effie Parks from the Once Upon A Gene Podcast.  Effie produces short “Effisodes” on her show and one in particular grabbed Sean's attention. With Kyle on the road, Effie agreed to help The Dudes with this episode and takes Kyle's place, in addition to allowing us to share one of her Effisodes. In this Episode: How Effie got into podcasting.  You Got This, Mental Health featuring Shelley Bowen - Grief is a process. Everyone grieves differently.  It's ok to figure it out as you go.  Listen to hear Shelley's wisdom. In an Effisode, Effie talks about a touching experience at a recent Birthday Party. Thank you notes - Rodney Samaco, Ph.D., PT with Dri Links and Resources: Barth Syndrome Foundation This episode brought to you in part by Reata Pharmaceuticals. Reata Pharmaceuticals is the company that makes SKYCLARYS™ (omaveloxolone) 50 mg capsules. Our mission is to develop innovative therapies that change patients' lives for the better. For more information about SKYCLARYS, visit: Skyclarys.com ©2023 Reata Pharmaceuticals, Inc. All rights reserved. SKYCLARYS, REATA, and their logos are trademarks of Reata Pharmaceuticals, Inc.

PARENTS AS RARE - EPISODE 077 A Rare Revolution - HITMC Meets Rare Disease with Grace Vinton, Kristy Dickinson, & Effie Parks Grace Vinton, Kristy Dickinson and Effie Parks join me to continue our conversations from the Healthcare and IT Marketing Conference in February. Enjoy this special cross-collaboration of HIT Like a Girl, Parents As Rare, Once Upon a Gene, and Simply Unbreakable. Be sure to check out these podcasts and I'd like to also encourage you to take one actionable step this month to empower the rare disease voice in some way! EPISODE HIGHLIGHTS Kristy, can you share about your personal journey with rare disease and how it has inspired the work that you're doing today? I was diagnosed at the age of 37 with Ehlers-Danlos syndrome, for which there's currently no cure. My journey to diagnosis was bumpy and I experienced a lot of misdiagnosis, treatments that failed, tests, procedures and twists and turns. It was a serendipitous event that ultimately led me to my diagnosis. With a patient-centered healthcare system, it wouldn't have taken me so long to get diagnosed because my condition is genetic and I had numerous incidents through childhood and young adulthood where my disease presented itself. I got my diagnosis by seeing a nutritionist when everything else had failed. I have made it my life's mission to continue to help the rear community in any way that I can. I founded a company called Chronically Simple, a web-based and mobile app that serves as a disease management tool. Adam, can you share about your personal journey with rare disease and how it has inspired the work that you're doing today? About four years ago, I was a pretty healthy young guy when symptoms started popping up out of seemingly nowhere. About two years ago, I got involved in social media and advocacy, trying to find community. I felt so isolated and so alone as a parent who was going through this and working through a rare disease diagnosis. Through social media, I found community, really helpful resources, and I was excited to finally be able to not feel so alone. About a year ago, I started my own podcast and started doing speaking engagements and it's been really a wonderful journey since then. I call myself a dadvocate- I'm a dad first and a rare disease advocate second. Effie, can you share about your personal journey with rare disease and how it has inspired the work that you're doing today? My husband and I always wanted to be parents and we were so excited when our first little baby was coming. We had ideas, plans and fictional expectations, so we were shocked when he was born super small, and he wouldn't eat, sleep or do anything typically developing babies would do. We were brushed off for four months by doctors telling us we were just worried new parents. And finally he was admitted into a children's hospital for about a week where a geneticist ordered whole exome sequencing. They took samples from my husband and I and about eight months later we got a diagnosis of a rare disorder called CTNNB1. The geneticist told us that he was number 30 in the world with that diagnosis and that she didn't know anything about it. After about two years of trying to find answers and figure out what to do for my son myself, and trying to navigate the healthcare system with no luck, I started a podcast as a platform to tell my story and to hold a place for other people to do the same. Effie, how does the diagnostic odyssey add color and commentary to the healthcare and healthcare innovation landscap

Are you thinking about a career in genetic counseling? Maybe you are a current student or even a recent grad… Then you have to head over to our social media for a MAJOR giveaway right now! We have assembled 15 genetic counselors, including myself and some other familiar faces/voices. All 15 of us are going to be mentors for a lucky 15 listeners. That's right you can meet with us for a 1 hour Zoom call for 1:1 mentoring. This is a giveaway so you just go to our Instagram, Facebook, and Twitter, and my LinkedIn to enter for FREE! For 10 extra entries you can leave a rating/review on Spotify or Apple then you email that to info@DNApodcast.com and I will personally give you an extra 10 entries. Shoutout to GC Prep for sponsoring. Use code “DNATODAY” for a discount on their mentor services. (SPONSORED)Our guest this week is fellow genetics podcaster, Effie Parks, to discuss CTNNB1 Syndrome.When she learned that her son, Ford, had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy. Now, she is the host of her own podcast, Once Upon A Gene where she speaks to others about their journey through life with rare disease. Since the launch of the podcast, Once Upon A Gene was awarded “Best In Show Podcast” by WEGO Health. Podcast Magazine recognized Effie as one of the 40 Under 40 Podcasters and she has been nominated for two Champion of Hope awards from Global Genes. Her mission is to learn, lift voices of the community, connect people to resources and to leave this world better than she found it for others in the rare disease world. Our host, Kira Dineen was recently featured on Episode #143 of Once Upon a Gene where genetic counselors shared impactful rare disease stories!On This Episode We Discuss:Effie's son Ford's diagnosis with a rare disorder, CTNNB1 syndromeNavigating a condition that only 50 other people in the world hadHow CTNNB1 Syndrome affects the bodyWhat resources Effie wishes she knew about when Ford was diagnosedAdvice for other parents in the rare disease space who are thinking about having another childFord's feature in Beyond The DiagnosisMeeting other parents and caregivers of people with rare diseasesWhere people can listen to the podcastEffie's son, Ford, was recently cited as the inspiration for a new, accessible and inclusive playground in Washington, you can read the article here! We also wanted to share this awesome graphic that Effie made that includes a detailed list of different things that people can do to support a rare disease family! If Effie's story piqued your interest, check out this blog post entitled “Life Under the Looking Glass” written by Katie Lloyd about her experience battling postpartum depression all while grappling with a diagnosis.To learn more about rare diseases like CTNNB1 Syndrome, visit the National Organization for Rare Disorders, Global Genes, and the EveryLife Foundation. You can follow Effie and Once Upon a Gene on Twitter, LinkedIn, and Instagram!Stay tuned for the next new episode of DNA Today on September 30th, 2022 where we'll be talking to Chris Brandt and Sandesh Patel about Mosaicism! New episodes are released on Fridays. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Support for DNA Today comes from the People for The Ethical Treatment of Animals (also known as PETA), whose scientists have developed the research modernization deal, a strategy to phase out ineffective experiments on animals with high-tech, state-of-the-art research. PETA has collected an abundance of evidence demonstrating that the use of animals in biomedical research hinders scientific progress and puts patients at risk. Learn more at PETA.ord/NewDeal. (SPONSORED)TrakGene has designed a genetics electronic health record. Here's what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates with other clinical genetic software, databases, and hospital information systems to maintain accurate patient records.Go check it out at TrakGene.com. And keep your eye out for our full episode interviews with TrakGene coming soon to DNA Today. (SPONSORED)PerkinElmer Genomics is a global leader in genetic testing focusing on rare diseases, inherited disorders, newborn screening, and hereditary cancer. Testing services support the full continuum of care from preconception and prenatal to neonatal, pediatric, and adult. Testing options include sequencing for targeted genes, multiple genes, the whole exome or genome, and copy number variations. Using a simple saliva or blood sample, PerkinElmer Genomics answers complex genetic questions that can proactively inform patient care and end the diagnostic odyssey for families. Learn more at PerkinElmerGenomics.com. (SPONSORED)

Learn about a genetic disorder called duchenne muscular dystrophy! We explore the genetics of DMD and treatments available with two experts in the field.We're joined by genetic counselor, ​​Ann Martin, who serves as the VP of Community Research and Genetic Services at Parent Project Muscular Dystrophy. Our other guest is world-renowned geneticist Dr. Madhuri Hegde from PerkinElmer Genomics. She is the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer. You may remember her from Episode 177 of DNA Today, which was a really fun episode where we geeked out on the power of whole genome sequencing!Sick of Zoom conferences? The Connecticut Genetic Counselors Association's first conference is in person! Jackson Laboratory is hosting us on Friday, October 14th in Farmington, CT. Our host, Kira Dineen, will be the moderator for Roe v. Wade Panel where we will be discussing the implications for practicing in a safe harbor state. Other presentation topics include polygenic risk scores, inclusive practice for LGBTQIA+ patients, and billing/credentials. We also built in networking time so we can all chat and get to know each other. Register here!On This Episode We Discuss:DMD average age of onset, symptoms, and symptom progressionDMD prevalence and inheritanceWhy it's important for people to be offered carrier screening before they are trying to conceiveReproductive options for people who are carriers of DMDWhat symptoms carriers of DMD are at risk forGetting the right testing for DMDCurrent treatment approaches for DMD (EMFLAZA)Ongoing clinical trialsPPMD's guides for caregivers of newly diagnosed peoplePerkinElmer Genomics' free testing program, DeCode Duchenne If you're interested in learning more about Decode Duchenne, the free genetic testing, counseling, and education program offered through a joint partnership between PerkinElmer Genomics and Parent Project Muscular Dystrophy, visit their website.We'd also like to feature a paper authored by one of our guests, Dr. Madhuri Hegde, about a single NGS-based assay that is highly sensitive for ​​diagnostic testing for DMD and is also suitable for confirmatory testing for newborn screening for DMD.Keep up with our guests on social media! Follow Parent Project MD on Twitter, Facebook, and Instagram, Dr. Maduri Hegde on Twitter, and PerkinElmer Genomics on Twitter and Facebook. If you found today's episode topic interesting and you want to learn more about DMD, we also chatted with Rich Horgan of Cure Rare Diseases whose brother has DMD in Episode 156!Stay tuned for the next new episode of DNA Today on September 16th 2022, where we'll be joined by Effie Parks of Once Upon A Gene Podcast to discuss CTNNB1 Syndrome! New episodes are released on Fridays. In the meantime, you can binge over 200 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to info@DNApodcast.com. Support for DNA Today comes from the People for The Ethical Treatment of Animals (also known as PETA), whose scientists have developed the research modernization deal, a strategy to phase out ineffective experiments on animals with high-tech, state-of-the-art research. PETA has collected an abundance of evidence demonstrating that the use of animals in biomedical research hinders scientific progress and puts patients at risk. Learn more at PETA.ord/NewDeal.TrakGene has designed a genetics electronic health record. Here's what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates with other clinical genetic software, databases, and hospital information systems to maintain accurate patient records.Go check it out at TrakGene.com. And keep your eye out for our full episode interviews with TrakGene coming soon to DNA Today.

(This is the fifth of five re-releases of host Jessica Patay's favorite episodes from the last two years before we introduce Season 4 of Brave Together.)Jessica loves this episode because she loves good storytelling! Fellow podcaster and friend, Effie Parks, shares about the impact and collision of Michael J Fox into her life and rare disease world.We all need heroes, and every mom who shares her story here is offering something heroic - in vulnerability, they hold up a mirror, a place we can go to witness parts of our own paths, and be reminded that we aren't alone. This journey is hard. Whether it's fellow moms in the trenches, or heroes of a totally different kind - we are surrounded by heroes giving us strength to look ahead.Effie Parks of Once Upon a Gene Podcast shares her story today… about some of the things that one of her own heroes - Michael J Fox - taught her about staying rooted in the present - when the future feels like too much.Find Effie's amazing podcastFind Effie on InstagramJOIN the international community of We Are Brave Together here.Donate to our Retreats and Respite Scholarships here.Donate to keep this podcast going here.Can't get enough of the Brave Together Podcast?Follow our Instagram Page @wearebravetogether or on Facebook.Feel free to contact Jessica Patay via email: jpatay@wearebravetogether.orgIf you have any topic requests or if you would like to share a story, leave us a message here.Please leave a review and rating today! We thank you in advance!

Effie knew something was “off” with Ford from the day he was born, four years ago. After four months of being blown off by his pediatrician, Ford was admitted to the children's hospital where he was analyzed and given an official (and extremely rare) diagnosis. Effie was completely blindsided and crushed. In this episode, Effie shares this experience of receiving Ford's diagnosis. We also chat about the huge perspective-shift that comes along with a child with medical complexities—the little things are everything. Effie also talks about the precious relationship Ford shares with his younger sister Ezzy, as well as the bittersweet moments of watching Ezzy develop typically. Effie Parks is the amazing host of the podcast Once Upon a Gene. You can find a link to her podcast in the show notes! This is a rebroadcast of Ep. 41 from Season 3. Links: Listen to Ep. 42: Friendship and Inclusion for Our Children and Ourselves w/ Effie Parks, the episode released right after this one. See photos of Effie + fam: https://therarelifepodcast.com/ Effie's podcast Once Upon a Gene: https://effieparks.com/podcast Follow Effie on Instagram: https://www.instagram.com/onceuponagene.podcast/ Follow me on Instagram: https://www.instagram.com/the_rare_life/ Follow the Facebook page. Join the Facebook group Parents of Children with Rare Conditions. Donate to the podcast via Buy Me a Coffee. Check out our appointment day merch. Check out our sponsor BetterHelp for online licensed therapy.

Patrick and Amy are joined by three of the most prolific and committed rare disease podcasters out there: Effie Parks from Once Upon A Gene, Kyle Bryant from Two Disabled Dudes, and Bo Bigelow from Stronger Every Day. Those three titans behind the mic join us for a candid discussion about patient centricity, we touch on some recent news, FLOW's Jessica Lauren Richmond is back with the latest installment of The Well.   Show Notes: Subscribe to: Once Upon a Gene 2DD Stronger Everyday   Recent novel therapy news:   CSL Behring gene therapy makes comeback after hold for FDA priority review   BioMarin delays planned FDA filing for hemophilia gene therapy   FDA Grants Breakthrough Therapy Designation to BIVV001 for Hemophilia A Treatment   Presenting Sponsor: Takeda. Visit bleedingdisorders.com to learn more.   The Bloodstream Podcast is brought to you in part by a new campaign from CSL Behring called Portraits of Progress. To learn more, check out www.PortraitsofProgress.com    Subscribe to BloodStream Podcast   Connect with BloodStream Media: BloodStreamMedia.com BloodStream on Facebook  BloodStream on Twitter

We all need heroes, and every mom who shares her story here is offering something heroic - in vulnerability, they hold up a mirror, a place we can go to witness parts of our own paths, and be reminded that we aren't alone. This journey is hard. Whether it's fellow moms in the trenches, or heroes of a totally different kind - we are surrounded by heroes giving us strength to look ahead. Effie Parks of Once Upon a Gene Podcast shares her story today… about some of the things that one of her own heroes - Michael J Fox - taught her about staying rooted in the present - when the future feels like too much. Find Effie's amazing podcastFind Effie on InstagramJOIN the international community of We Are Brave Together here.Donate to our Retreats and Respite Scholarships here.Donate to keep this podcast going here.Can't get enough of the Brave Together Podcast?Follow our Instagram Page @wearebravetogether or on Facebook.Feel free to contact Jessica Patay via email: jpatay@wearebravetogether.orgIf you have any topic requests or if you would like to share a story, leave us a message here.Please leave a review and rating today! We thank you in advance!

Welcome back to another episode of the IFC's When Destiny Calls. Today we welcome back Dr. Lahab Al-Samarrai, joined by Christy Foster. It's a great conversation and we can't wait for you to hear it. Today we have a special guest, Effie Parks. If you did not get the chance to attend the Conference, or want to re-experience some of the talks, they will all be uploaded to the youtube page over the next couple weeks. You can find the youtube here: https://www.youtube.com/channel/UC_1xmztcqFgsrhDAdOMthyA If you want to support the podcast, make sure to rate 5-stars on iTunes and wherever you get your podcasts. Make sure to also check out the JAMP Training Institute's Magician's Call podcast. We'll see you again with another episode of the IFC's Individuation podcast soon.

Today on the show, I talk to Effie Parks, a fierce podcaster raising a child with a rare disease. After giving birth to her first child, Ford, Effie was dismissed by the medical community over concerns she had about her son's health. Almost a year later, Ford was diagnosed with a rare genetic disorder called CTNNB1 syndrome, which impairs speech and neurodevelopment. Effie had no handbook and no one to turn to, so she picked up a microphone and sounded the rallying cry for parents of disabled children and other caregivers. Her podcast, Once Upon a Gene, won the 2021 WEGO Health Award Winner for Best in Show: Podcast. Effie's here to talk about growing up in Montana, why language matters, and all of life's unexpected pivots.See Privacy Policy at https://art19.com/privacy and California Privacy Notice at https://art19.com/privacy#do-not-sell-my-info.

At the HLTH conference last year, one of the most amazing people I met was a lady named Effie Parks. She was attending HLTH to receive a WEGO Health Award for her work on the Once Upon a Gene podcast. I learned so much from her and was so touched by her story that I knew I had to have her on the Healthcare IT Today Interviews podcast. What makes Effie Parks special is that she's an incredible human. What makes her healthcare story interesting is that she was a new parent of a child with a rare genetic syndrome. She felt lost and without a guide until she found a podcast that talked about other rare diseases. Those stories gave her strength and the feeling that she wasn't alone. She started the Once Upon a Gene podcast to share more of the rare disease stories she finds and to share her experience navigating the healthcare system as a caregiver of a child with a rare disease. Be sure to subscribe to Effie's Once Upon a Gene podcast: https://effieparks.com/podcast Find more great health IT content: https://www.healthcareittoday.com/

I recorded the show prior to finding the perfect name for this podcast. The new name of the show is "The Rare Hour" with Christopher Velona. I dedicate this new beginning to our premier guest… Mrs. Effie Parks Effie Parks was born in the magical land of Montana, where she was raised with her 12 loving siblings. After moving to Washington and marrying her husband, Casey, they were blessed with the birth of their son, Ford Canon Parks. When she learned that Ford had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy. Effie also has a daughter, Ezzy age 3, who gives her a run for her money in the speaking category. Effie is also the host of her own podcast, Once Upon a Gene, where she speaks to others about their journey through life with rare diseases. You can check out Effie's current work through these links below! https://www.curectnnb1.org/ https://ctnnb1-foundation.org/our-team/ www.effieparks.com https://www.thedisordercollection.com/

When Effie's son, Ford, was born with an extremely rare genetic condition called CTNNB1 syndrome, she dove headfirst into the world of advocacy. CTNNB1 syndrome is caused by a deletion, partial deletion, or mutation of the CTNNB1 gene. It is a neurological condition that can cause a range of symptoms from mild developmental delays to severe physical and intellectual disabilities. To help herself and others cope with and manage raising a child with a disability or rare genetic condition, Effie started the Once Upon a Gene podcast. She shares her personal stories and interviews other parents, patients, advocates, doctors, scientists, and more.

Dreams of a perfect childhood, a perfect child, and the perfect life are part of every soon to be mother's wish list. Effie Parks did find the perfect child, but it took her down a path she never expected. Effie's child Ford was born disabled, with an extremely a rare disease CTNB1. What followed was a path the family never imagined and would never change. Special thanks to CVSHealth for their support. #BumpInTheRoad

Effie Parks hosts the http://www.onceuponagene.com (Once Upon a gene) podcast. Her son was born with a rare disease and it left her feeling completely isolated. She created the podcast to find other parents who are raising a kid with a rare disease. It's full of resources and personal stories from families who are navigating this unique lifestyle. Because of Her PodcastAs Effie put it the phrase "Award-winning podcast" "is wild to say and even think this would be a thing when I started the show two years ago, out of desperation. http://www.wegohealth.com (Wego health) and https://health-union.com/ (Health Union) have a yearly ceremony, where they honor digital advocates in the health industry. Your show first has to be nominated, then endorsed or voted on by the public for about a month. And then you're taken to a finalist round and ultimately chosen by a panel of judges 15,000 Total nominations. And there's 16 winners. When I watched the announcement ceremony online, I burst into tears. I didn't expect to win, obviously. But I also didn't expect to feel that much gratitude that the work I was doing was being recognized and making such an impact. That's not all. They flew us all of the winners in our categories to Boston Gave us a $3,000 ticket to the world's largest health conference Paid for three nights in a gorgeous hotel on the water They interviewed us with fancy cameras and lights Fed us lunch every day Held a formal ceremony at the conference with a huge stage and big screens. In the middle of the room at this massive event. I got to meet a woman who became a close personal friend to me online. Because we're both raising kids of rare disease. I got to meet her in person. I met other beautiful advocates and was just so honored to be in their presence. The team itself who put on the event were there every step of the way. And they were so genuine and passionate. It was like a love fest. And I felt so incredibly lucky and special. I also made a lot of great connections that perhaps I will share later on because of my podcast segment. Thanks for being such a champion for podcasters Dave and for always coming at it with a realness and heart. So, again, my name is Effie Parks host of the Once Upon a gene podcast. If you're a caregiver or you know someone raising a medically complex kid, please find me at onceuponagene.com Dave's Thoughts I met Effie on an episode of the https://www.podcastersroundtable.com/social-media-marketing-for-your-podcast/ (Podcasters Roundtable). I don't know how to say it, but I just knew she was going to create something special. She had an underserved audience, and the courage to be vulnerable. She's made caregivers all over the world feel less alone and that is HUGE. Find her at http://www.onceuponagene.com (www.onceuponagene.com ) Can You Answer the Question, "Because of My Podcast _____?"https://www.schoolofpodcasting.com/contact (I'd love to hear it) Ready to Start Your Podcast?Who knows, maybe in two years they will be flying you to Boston to receive an award https://www.schoolofpodcasting.com/contact (Let me help you.) Support this podcast

Today we feature episode 87 - Superheroes from our friend Effie Parks at the Once Upon a Gene Podcast.   This episode features a  few different people and stories about the superheroes in their lives. Check out our interview with Effie in an earlier episode: Episode 129.

Today we feature episode 87 - Superheroes from our friend Effie Parks at the Once Upon a Gene Podcast.   This episode features a  few different people and stories about the superheroes in their lives. Check out our interview with Effie in an earlier episode: Episode 129.

Social media platforms and podcasts are spotlighting the untold stories of rare disease patients and their families. Find out more in today's Few & Far Between podcast episode. Biorasi's Becky Knockemus welcomes guests Effie Parks, host of the Once Upon a Gene podcast, and Špela Miroševič, co-founder and president of the CTNNB1 Foundation.

Today on the podcast, Jessica Patay and Effie Parks from @onceuponagene discuss the importance of community, and the tension that arises when you feel betrayed by the professionals during your child's diagnosis process. Effie's story and wisdom is rich and relevant - don't miss this episode!About Effie and @onceuponagene - When Effie's son, Ford, was born with an extremely rare genetic condition called CTNNB1 syndrome, she dove headfirst into the world of advocacy. CTNNB1 syndrome is caused by a deletion, partial deletion, or mutation of the CTNNB1 gene. It is a neurological condition that can cause a range of symptoms from mild developmental delays to severe physical and intellectual disabilities. To help herself and others cope with and manage raising a child with a disability or rare genetic condition, Effie started the Once Upon a Gene podcast. She shares her personal stories and interviews other parents, patients, advocates, doctors, scientists, and more.

If you've come to hear a cute story about Tess being a sweetie and us learning something new about her as summer ends, well, you've come to the wrong place.Taking a page from my friend Effie Parks this week. Telling it like it is, and I don't have a lesson or moral for you. The end of summer is one of our hardest times with Tess.This podcast is sponsored by The Disorder Channel. It's 100% devoted to programming about rare diseases and other types of disabilities. You can add it for free right now on Roku and Amazon Fire TV. The Disorder Channel—the most rare stories in the world. https://www.thedisordercollection.com/

Intro music by Scott Holmes

The families of people with rare conditions often feel like they have to live two lives. For the person they love and care about, their son or daughter or their parent, they want to put on a tough and sunny face. When they take their loved one out in public, they want everyone to see just how strong the family is and how everyone should be grateful. They grit and smile through the treatment side-effects, through awkward glances, through long nights. Then there is the other life. The one where they just break down. The one that they try to keep hidden from the world and maybe even that person they care about. They keep it hidden because they may come across as weak or ungrateful or even self-centered. But, of course, they are humans. And they are bound to feel the weight of despair, the confusion of unpredictability, and the odd joy of loving someone through tough times. Unless you have had to live this dual life, everything that I just said can still just remain a theory – something that you can turn off now and go about your day. But for the people with rare conditions and the families around them, this is a reality – day-in and day-out. Effie Parks is someone who has lived that dual life and come out the other side. And she is someone who has merged those two lives and offered an alternative for caregivers and advocates. She is the proud mother of Ford, her son born with an extremely rare condition. Her desire to create the best life for Ford drove her into advocacy and to create “Once Upon a Gene,” an inspiring podcast that reveals the stories of the people living dealing with that dual life. On this episode, we both get real and swap stories about the despair of diagnosis day, the hopes we have for our families, and our challenge to a health care industry still blind to the nuances of life with rare disease. It is an unflinching look at real life, and I know that you will enjoy it. Please subscribe and keep listening to Rare Voices! Effie Parks Bio Effie Parks was born in the magical land of Montana, where she was raised with her 12 loving siblings.  After moving to Washington and marrying her husband, they were blessed with the birth of their son, Ford Canon Parks.  When she learned that Ford had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy.  Now, she is the host of her own podcast, Once Upon a Gene, where she speaks to others about their journey through life with rare disease. Music Credits: Westpoint Instrumental by  Sun Shapes

RARE MAMAS RISING - EPISODE 5 Lighting the Way with Once Upon Gene Podcast Host & Rare Mom Effie Parks   When Effie's son Ford was born with an extremely rare genetic condition called CTNNB1 syndrome, not only did she dive into the world of advocacy, but she launched the Once Upon a Gene podcast, a podcast that explores the world of raising children with disabilities and rare genetic disorders. Effie also hosts the Once Upon a Gene TV show on the Disorder Channel. In this episode, we discuss the challenges parents face on the rare disease road and Effie offers ideas and tips to light the way.   EPISODE HIGHLIGHTS   Can you tell us about your son Ford and tell us a bit of your story? When Ford was born, he had a really low birth weight and feeding issues. After 3 months, our pediatrician said, “I'm worried about Ford; you need to take him to Children's.” We heard words like failure to thrive, hypotonia, microcephaly, and we left with an NG tube. We got connected with a geneticist. They said it was CTNNB1, and there were 30 kids in the world with it.   How did your experience lead you to create the Once Upon a Gene podcast? In the beginning, feeling like nobody knew what I was going through and feeling so isolated. I found some comfort in a couple of podcasts, The Two Disabled Dudes being my main one. I was so inspired by what they were doing, and I noticed it was healing me and relaxing me, and it was giving me so much hope. I was so incredibly thankful, and ultimately, I wanted to do the same thing for someone else. I knew it was a piece of my purpose.   What are some of the common challenges you hear people up against? Self-care is such a big one. It can be confusing, intimidating, and overwhelming. I draw four oxygen tanks and put something in each one that I have to do each day, no matter what. I learned box breathing, and that was life-changing to learn. Check out Rose Reif, a therapist for people who have disabilities and their caregivers. She teaches that self-care is the small, consistent things that you make habits that you do every single day no matter what.   What is another pain point you hear from parents? Feeling alone, feeling isolated, feeling misunderstood. That's when people start to look for books, podcasts, blogs, and following advocates to feel less alone.  Find what makes you feel warm and gives you energy. Go find your people. We can't do this alone.   What about Inclusion? What tips do you have to help others include our children?  You have to create boundaries for yourself. It's a muscle that we have to work. We should come at it with the intention of grace and educating, and just being kind. I'm always trying to get Ford involved. There's a resource called the Friendship Circle that is all over the country, and I highly recommend it.   What other pain points? We are talking about money a lot and how expensive our life is.  The Disorder Channel and I just did an episode on the financial stuff. There are groups on Facebook in your neighborhood, and there are sites for parents like you who swap equipment or give away extra supplies or old equipment. I highly recommend finding those groups to take a little bit of the burden of paying for some of this stuff off your shoulders.   Any parting words to our listeners, mama to mama? Accept all of your emotions. They're valid. Notice them. Work through them and let them go. Keep moving and find hope anywhere you can. Find whatever your purpose can be from this to help someone else. Once you can find a glimmer of hope, don't let go of it and find out what you can do with it because there is nothing that can stop a rare disease parent.   LINKS & RESOURCES MENTIONED   https://effieparks.com/ https://www.thedisordercollection.com/ https://rosereif.com/ https://www.friendshipcircle.org/   CONNECT WITH NIKKI   Facebook https://www.facebook.com/RareMamas1/ Instagram https://www.instagram.com/Rare_Mamas/ Website https://raremamas.com/ Email info@raremamas.com

In this Mother's Day episode Sarita sits down with Effie Parks, host of Once Upon A Gene Podcast. Effie shares how she started her rare journey with son, Ford and her why behind starting her podcast. Listen as Sarita and Effie talk about finding your people, developmental school for their kiddos, and the power of sharing your story! --- Support this podcast: https://anchor.fm/beingrare/support

Paid podcasts. There are many ways to get paid as a podcaster and now Apple and Spotify are launching their own avenues for podcasters to produce premium content. Beyond the differences like price setting, cost to the creator etc., all stuff bound to change over time, what does it really mean for your show? Join Ray Ortega, Dave Jackson, Paul Colligan, Effie Parks, and Bryan Barletta to help figure out what works for your show, in terms of monetization and how you might begin to navigate premium podcasting.

Today I am chatting with rare-disease mom and podcast host of Once Upon a Gene, Effie Parks. Effie is on a mission to help more mamas get connected to encouraging communities that remind you that you're not alone and that your story needs to be told.  Check out the full show notes at https://www.findinghappythepodcast.com/episodes/effieparks Learn more about working with Sinéad at sineadquinn.com

Have you ever wondered how parents of children with special needs manage everything? The day to day tasks can be overwhelming, challenging, and exhausting. Effie Parks from Once Upon a Gene joins us in the studio this week to share her positive, hopeful, and energetic outlook on life with her son, Ford. Her message is that it is your choice how you approach adversity. Hers is head-on with a smile. But that doesn't mean she neglects herself. Effie has some simple, doable ways for us to take care of ourselves, even if it means we make a Target run. (Disclaimer, she may not always go to Target!)Frankly, I needed to hear her message and I know you will, too. She is amazing!Effie Parks was born in the magical land of Montana, where she was raised with her 12 loving siblings.  After moving to Washington and marrying her husband, they were blessed with the birth of their son, Ford Canon Parks.  When she learned that Ford had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy.  Now, she is the host of her own podcast, Once Upon a Gene, where she speaks to others about their journey through life with rare disease.Contact Effie if you are wanting advice, resources, or even just an ear at www.effieparks.com.Time Stamps:0:52 - Effie Parks intro2:25 - Once Upon a Gene4:17 - Ford and his condition8:46 - Effie Time11:05 - Toothbrush Test15:35 - You matter the most18:23 - Target and margaritas23:15 - Socializing with Ford28:05 - Judging someone on their character29:31 - Connect with Effie31:01 - Effie's sage adviceSupport the show (https://www.patreon.com/user?u=31725704)

My way is just one of millions of ways in which you can approach a rare diagnosis, you can approach creating a treatment. No one I right, no one is wrong. This is diversity.  Sanath Ramesh In Part 2 of our discussion with fellow podcaster and rare mom, Effie Parks, we compare and contrast the different approaches and styles that Sanath and Effie bring to the table for the rare disease community. As we have learned, Sanath likes to solve problems.  Effie brings a different strength – positive energy. We discuss how life has prepared each of us for what we are doing today. We learn a little about the vastly different childhoods that Effie and Sanath had.  Each has uniquely shaped them to contribute their part to the larger rare community.  The insight is that together we are stronger.   All our varied contributions serve to inspire others to keep going.  https://effieparks.com/podcast (Once Upon a Gene Podcast),  https://www.youtube.com/watch?v=68ZUSyqdeZo (Once Upon a Gene TV) Support this podcast

Welcome to 2021 and our second season of Raising Rare.  We have a very special guest, fellow podcaster and rare Mom, Effie Parks. Effie is the host of the wildly popular https://effieparks.com/podcast (Once Upon a Gene Podcast) and creator of https://www.youtube.com/watch?v=68ZUSyqdeZo (Once Upon a Gene TV). This is part 1 of a two-part interview. Effie's son Ford has a rare mutation of the gene CTNNB-1. It affects the production of beta-catenin, which is important for the regulation of cell-cell adhesion and for gene transcription. The effects are slow developmental progress and motor issues, including dystonia. We hear about Ford's superpower and the amazing ways his condition has shaped Effie's life. Her unstoppable optimism and cheerful personality are perfect for the role she has found herself playing. We also talk about the strain that having a child with a rare condition can put on friendships. Surprisingly, both Sanath and Effie feel that podcasting has helped open a line of communication that might be awkward in person. Friends can learn about the condition and hear how the kids are doing without the need to say the right thing in response. This allows them to reach out to friends and just hang out.  In part two, we will continue our round-table discussion. Tune in next time. Graphics: Ramya Ramaswamy ramya@cureGPX4.org Sound: Jacob Tompkins (losstudiosnc@gmail.com) Support this podcast

Effie Parks immediately connected to rare disease podcasts when her son Ford was diagnosed with CTNNB1.  However she soon caught up with all of the episodes and came to the end of her lifeline.  So she created the thing that she needed the most.  She connects with other rare disease parents and many others in the Rare Community through her incredible podcast Once Upon a Gene.  Listen to this episode to get insight on the value of connecting to others.

BONUS episode! We received a lot of comments about Episode 114 (the encounter with Debora) so we invited a few friends to join us to talk about the sometimes awkward interactions with strangers who may be uncomfortable with disability. Friends who joined us are Shandra and Christian from Florida, Leona from Colorado, and Effie Parks (host of the Once Upon a Gene Podcast) from Seattle.   This bonus episode is unedited. Enjoy!