Podcasts about tuberous

Meet Amanda Chagnon, mom to three beautiful boys including her youngest, Alexios, who has medical complexities due to a condition called Tuberous Sclerosis Complex. Tuberous sclerosis complex (TSC) is a rare genetic disease that causes non-cancerous tumors or lesions to grow in the brain and other areas of the body, including the eyes, lung, heart, kidneys, and skin. Amanda shares how motherhood and her nursing background have intertwined, and the blessings and difficulties of homeschooling, especially when caring for a medically complex child. Honest about her struggles, other caregivers may find this conversation refreshing and learn from the ways she has found to manage her internal and external struggles.

What, you may ask, is TSC. When I first met our guest, Kari Luther Rosbeck, I had the same question. TSC stands for tuberous sclerosis complex. As soon as Kari defined the term for me it struck a nerve close to home for me. My great nephew actually has tuberous sclerosis complex and was first diagnosed with this rare disease when he was but a child. My conversation with Kari was far reaching and quite educational for me as I suspect it will be for you.   TSC affects some fifty-thousands persons in this country and about 1 million around the world. The TSC alliance, founded in 1974, has worked to promote support, research and the dissemination of information about this rare disease.   Kari has been the CEO for many years. She began with the organization in 2001. While her main interest growing up was in being an actress as she says, “living in New York City means that you work while developing an acting career”. In Kari's case, she found another interest which was fundraising and being involved in the nonprofit world.   My conversation with Kari is quite enjoyable and, as I said, quite educational. I am sure you will find much invaluable information in this episode. At the end of our time together Kari will tell us all how we can become involved and help the TCS Alliance. I hope you will find ways to support this effort as what the organization does goes far beyond what you might think.       About the Guest:   Kari Luther Rosbeck, President and CEO, TSC Alliance Kari has made it her life mission to use her 35 years of nonprofit and volunteer management experience to help create a future where everyone with TSC has what they need to live their fullest lives.  She has served as President and CEO since November 2007 and previously held progressive leadership positions with the organization since 2001. Kari is responsible for the overall management and administration of the organization including strategic planning, implementation of organizational strategies and evaluation of results to ensure the TSC Alliance meets its mission. During her tenure, the TSC Alliance established a comprehensive research platform fostering collaboration with industry and academia to move treatments for TSC forward in a more expedited way. Because of her leadership, the organization has taken an active role in educating the TSC community about clinical trials to diminish the time for recruitment, including pivotal trials that have led to three FDA-approved drugs specifically for TSC. In 2019, the organization launched a Research Business Plan with the goal to change the course of TSC for those living with it today and for generations to come paired with an aggressive fundraising campaign leading to more than $16 million raised. Since joining the TSC Alliance, the organization has grown from a $2.1 million annual operating budget to $10 million in 2022 and is heralded with top ratings by watchdog organizations. Kari graduated with a BA degree in Theatre from the State University of New York at Albany and upon graduation founded a theatre company with fellow graduates in New York, NY.  After the loss of her first child, Noell, to sudden infant death, she dedicated her career to helping other families. Kari is the proud mother of Trent, Bradey, Wynter and Rhys and grateful to her husband Chris for his unending support. When not working, she enjoys traveling, playing golf and being an avid Minnesota Vikings fan. Read Kari's Profile in Success.   Ways to connect with Kari:   Facebook: https://www.facebook.com/tscalliance; @krosbeck Instagram: https://www.instagram.com/tscalliance; @karirosbeck LinkedIn: https://www.linkedin.com/company/697362/admin/; @kari-luther-rosbeck-ba24805/ X: https://twitter.com/tscalliance; @KariRosbeck Threads: https://www.threads.net/@tscalliance Website: www.tscalliance.org     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 subscribe in your favorite podcast app. You can also support our podcast through our tip jar https://tips.pinecast.com/jar/unstoppable-mindset .   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. . Well, welcome once again to another episode of unstoppable mindset where inclusion, diversity and the unexpected meet, and I bet we get to do a bunch of all of that today. Our guest is Kari Luther rosbeck, and Kari and I met through Sheldon Lewis from accessibe. Sheldon is great at finding folks for us to get to chat with. And when I started learning about Kari, one of the things that I kept reading was a term TSC, and I didn't know what TSC was. So when Kari and I first met, I asked her about TSC, and she said it stands for tubular sclerosis complex, which immediately struck a nerve with me, because I have a great nephew who has tubular sclerosis. And as it turns out, his parents have actually and had actually attended an event where Kari was and then just this past March or April or whenever, and you can correct me, Kari, but they went to another event, and my other niece and nephew, Tracy and Charlie, attended, as I just told, Kari, I'm very jealous they didn't let me come along, but that's okay. I stayed home and slept. But anyway, Kari, I want to welcome you to unstoppable mindset. It's really great that you're here, and I want to thank you for taking the time to be with us. It   Kari Luther Rosbeck ** 02:42 is such an honor. Michael and I love talking with your family, and it was so wonderful to have them with us at comedy for a cure this year. Well, it   Michael Hingson ** 02:53 it was really fun to hear about the event from them, and I'm glad that that they all enjoyed it. And of course, Nick is is a person who deserves all the attention and help all of us can give. He's had tubular sclerosis, been diagnosed with it for quite a while, and is actually, I think, beating some odds, because some people said, Oh, he's not going to last very long, and he's continuing to do well. And just don't ever get him into a conversation about sports and the Dodgers, because he's a Dodger fan, okay,   03:24 as he should be. By the conversation.   Michael Hingson ** 03:28 Well, he is a Dodger fan as he should be. I just want to point that out, yes, yes, for those of us here. Well, Nick, Nick probably   Kari Luther Rosbeck ** 03:36 was, well, when Nick was diagnosed, we had a very different prognosis for TSC back then.   Michael Hingson ** 03:45 Well, yeah, I know, and it's like everything with medicine, we're making a lot of advances. We're learning a lot, and of course, we're paying a lot of attention to these different kinds of issues. I mean, even blindness, we're paying a lot of attention to blindness, and we're slowly getting people it's a very slow process, but we're slowly getting people to recognize blindness isn't the problem. It's our attitudes about blindness that are the problems. And I think that's true with most things, and I think that if people really thought about Nick and and felt, well, he can't do much because of they would recognize he can do a whole lot more than they think he can, 100% which is really important. Well, let's start a little bit about you. And why don't you tell us about the early Kari growing up and all that and how we got where we are, well, thank   Kari Luther Rosbeck ** 04:43 you for the opportunity to do that. My middle name is Lacher. That's also my maiden name. My dad and mom were in education, primarily. My dad also dabbled in some politics. We moved around. Quite a bit when I was a child, I think before seventh grade, or before I was 18, we knew 13 times so that really, you know, you become adaptable because you have to be and inclusive, because you have to be because you're in all of these new environments. From the time I was six years old, I wanted to be an actress. I wrote my own plays, I organized a neighborhood, I think, when I was seven, and we performed a play I wrote. And that's what my degree is in, in theater. And Michael, as you probably know, when I was 27 I had my first child, Noel, who unfortunately passed away from sudden infant death, and it completely changed the rest of my life. From that point forward, I really wanted to do something that impacted families, so they never had to experience the type of grief that I went through at a very somewhat young age. And then from from that point, I took all of the skills that I'd been using in the work life, not theater, because I lived in New York, and you have to work to live, so you could do theater before my then husband and I moved to Minneapolis, but I had always done fundraising. I had always done administration, so I just kind of naturally took in all of those skills, community and grassroots building. I went to work for the American Refugee Committee in Minneapolis, and then from there, worked at international service agencies, which is a workplace giving umbrella organization representing all of the premier international organizations. And my job there, as a regional director was to go into workplaces and give two or three minute presentations and convince people to give to international causes. My favorite was I was pregnant. I had a pregnancy kit, what they would give people in developing the developing world, where you would have a razor blade, a string, a plastic sheet, and that's how they delivered babies. And that was a really effective presentation, as you can imagine. I got to the TSC Alliance because my boss at international service agencies became the CEO of the TSC Alliance in early 2000s and he brought me over to start our volunteer outreach program, build our grassroots movement, and from there, I definitely got involved in fundraising. The admin side was interim CEO, and then CEO,   Michael Hingson ** 07:55 well, gee, so so many questions. Why did you guys move so many times?   Kari Luther Rosbeck ** 08:01 Well, my dad got his PhD and became dean of students at Arkadelphia State University, or Henderson State University in Arkadelphia, rather. And he did great, but he loved politics, and he had the opportunity to become the executive director of the Republican Party of Arkansas when it wasn't cool to be a Republican in Arkansas, and that really was his passion. And from there, he became a he led a congressional campaign for a candidate in Littleton, Colorado, and when that candidate didn't win, he realized that he really needed to have a more stable life for his family. So we moved to Knoxville, Illinois, and he became a vice president at a community college, and from that point forward, that was his his career. We moved to upstate New York. I'm leaving out a few moves just to make it simple. We moved to upstate New York my freshman year in college, where he became a President of Community College there, and then ultimately, he ended back in his hometown, in Mattoon, Charleston, Illinois, where he led the local community college until he retired, and the Student Union at Lakeland College is actually named after my   Michael Hingson ** 09:30 father. Wow. So is he still with us today? He is not.   Kari Luther Rosbeck ** 09:34 He passed away from idiopathic pulmonary fibrosis in 2017   Michael Hingson ** 09:38 Well, that's no fun. How about your mom? She is, she   Kari Luther Rosbeck ** 09:43 still lives in that soon. Yep, she is the matriarch of our family. That's for sure.   Michael Hingson ** 09:50 A lot of moves. Needless to say, I wonder what your father would say about politics today, it started to be different in 2016 and. 2017 but I wonder what he would think about politics in general. Today, I   Kari Luther Rosbeck ** 10:04 am not sure. I have wondered that question a lot. The one thing my dad was always great at, though, was the ability to see balanced viewpoints, and it's something I always loved and respected about my father, and   Michael Hingson ** 10:19 I think that's important. I think people really need to do more of that. And we just, we're not, we're not seeing that, which is really scary. We're not seeing it on so many levels, not just politics. But, you know, we don't get into politics much on unstoppable mindset, because, as I love to tell people, if we do that, I'm an equal opportunity abuser anyway, and and I, and I'm with Mark Twain. Congress is that grand old benevolent asylum for the helpless. So you know?   Kari Luther Rosbeck ** 10:48 Well, I will say this. My dad taught me how to be an advocate from a very young age. Yeah, what it means to not be afraid to use your voice. That's the best thing we can get out of politics, that using your voice for the greater good is one of the most important things that you can do. The   Michael Hingson ** 11:10 thing that I think people are forgetting today is they love to use their voice, but they don't love to use their ears. Yes, which is another thing, but I I hear what you're saying. I joined the National Federation of the Blind, which is the largest blindest consumer organization in the country, and I joined in 1972 when I was a senior in college, and learn from experts about being an advocate. And I think it's really important that we have advocacy. And the value of really good advocates is that they are able to look at all sides of an issue and really make intelligent decisions and also recognize when it's time to maybe change as things evolve in terms of views. And we just don't see any of that today. People say I'm an advocate. Yeah, well, without thinking about it, and without really looking at the options, and without looking at stands, it's just amazing how people, as I said, use their voices, but not their ears today. I agree. Yeah, it's, it's, it's a tough world, and it's, it's a challenge. I read an article about a year ago in the New York Times all about how we're losing the art of real conversation, which is why this podcast is so much fun, because we do get to converse.   Kari Luther Rosbeck ** 12:36 That's right, I I'm so excited to be with you today.   Michael Hingson ** 12:40 Well, so you got into nonprofit, in a sense, pretty early, and you've certainly been involved at reasonable levels for now, 23 years after September 11, I worked at Guide Dogs for the Blind for six and a half years, as well as being a public speaker. But loved working in the nonprofit sector, although I had a lot of fun with some of the nonprofit people, because what I would constantly advocate, if you will, is that development in the nonprofit world is really just no different than sales. Instead of selling and making a profit, in a sense, you're selling to secure donations, but it's still sales. And people would say, Oh no, it's totally different, because nonprofit is just totally different than what you do if you're working with a company and selling for a company. And I'm going, I'm not sure it's that different.   Kari Luther Rosbeck ** 13:40 Well, what I think is that you're selling hope and right? It's all about relationships. But unlike widgets, we have a lot of different programs that have created such progress, hope and support for the tuberous sclerosis complex community. And I really enjoy talking about what those programs help make possible for people like your great nephew, Nick well   Michael Hingson ** 14:12 and and it's important to do that. I The only thing I would say on selling widgets, as opposed to hope, is if you talk to Steve Jobs or Bill Gates, they would say that widgets very well could also be a mechanism to to move toward hope and dreams. And so again, I think it's just, it's it's all using the same techniques, but different things. I tell people now that as a keynote speaker, I think it's a whole lot more fun to sell life and hope and dreams than it is to sell computer hardware.   Kari Luther Rosbeck ** 14:54 But you're right about computer hardware, and for instance, wearables that are. Really making a difference in some of the breakthroughs that we see today. So under percent correct.   Michael Hingson ** 15:05 Well, tell us a little bit about the whole tubular sclerosis complex Alliance, the TSC Alliance, and you got started in it. And what was it like, if you will, back in the day, and it's not a great term, I'm telling you, I I'd love to to have fun with that, but what it used to be like, and what it is now, and what's happening, sure.   Kari Luther Rosbeck ** 15:27 So when I started June 18, 2001 nearly 23 years ago, the organization had about seven employees. Today, we have 23 we in those days, we knew what the genes were in TSC, and soon after I came to work, we discovered how the TSC genes impact the underlying genetic pathway. That was awesome, because that led to some key clinical trials and ultimately an approved drug. What I say about the early days is we were we did a beautiful job of holding people's hands, offering them support, but there were no medications that really directly impacted TSC that were FDA approved,   Michael Hingson ** 16:21 maybe it would help if we actually define what TSC is. Yes, of   Kari Luther Rosbeck ** 16:25 course, let's start with that. Tuberous sclerosis complex is a rare genetic disorder that causes tumors to grow throughout the body, the brain, heart, kidney, liver, lungs. It is the leading genetic cause of epilepsy and one of the leading causes of autism. Epilepsy impacts about 85% of people with TSC autism, about 50% one in 6000 life first will have TSC. TSC impacts about 50,000 Americans and a million people worldwide, and it's variable. No two people are exactly the same, not even identical twins. So people can have mild cognitive impact. They might have moderate or severe. People can have mild cognitive impact, but at some point in their life, perhaps needing a lung transplant. TSC is progressive. So for women of childbearing age, lymph angiolio, myomatosis, or Lam can impact the lungs. We can see kidney growth of tumors in the kidneys that can impact quality of life. So it's variable, and some of our adults live independently. Others require more complex care. It's usually diagnosed in childhood and in infancy, either in utero, where you can see two or more heart tumors in a regular ultrasound. Sometimes you're diagnosed after birth, when a baby begins having seizures. Some people aren't diagnosed till they're teenagers with the appearance of angiofibromas or skin tumors on their face. And occasionally, people are diagnosed when they're adults. They have kids of their own, their children are diagnosed with TSC, and then they are subsequently diagnosed with TSC. So it runs the gamut.   Michael Hingson ** 18:31 So it is something that very much is or can be genetic. It is genetic.   Kari Luther Rosbeck ** 18:38 Yes, it's caused by mutations in one of two genes, TSC one or TSC two, on the ninth or 16th chromosome that controls cell growth and proliferation, which is why you see the appearance of non malignant tumors. And that is what impacts all the organ systems. Yeah,   Michael Hingson ** 19:00 and it is not a fun thing, needless to say, to be around or to have, and it's not something that we have control over. Nick, I know does live with his parents. I don't know whether Nick will ever be able to live independently. He does have seizures and sometimes, and it's not predictable, although he's doing a little bit better job of controlling them with medication, but he'll probably always live with someone. But what a wonderful person to have around. Yes,   Kari Luther Rosbeck ** 19:35 he is definitely enjoyable. And that's, I mean, that's the thing about TSC. We have we have independent adults. We have kids, we have semi dependent adults. We have dependent adults. The one thing about our community and our organization is this is a home for everybody.   Michael Hingson ** 19:58 So when did the. See Alliance actually first begin   Kari Luther Rosbeck ** 20:01 1974 so it started with four moms around a kitchen table in Southern California, and two of those four moms are still in touch with the TSC Alliance. I talked to two of our Founding Moms quite frequently. They are very inspirational. They had this tremendous foresight to think about what the community needed or what they would need in the future. So our organization, the TSC Alliance, we actually have a new vision statement as of this year. So our vision statement is the TSC Alliance wants to create a future where everyone affected by TSC can live their fullest lives, and our mission statement is to improve quality of life for everyone affected by tuberous sclerosis complex by catalyzing new treatments, driving research toward a cure and expanding access to lifelong support. What so some of the ways that that we do this, as you know, is to fund and drive research, to empower and support our community, to raise awareness of TSC, because we want to provide the tools and resources and support for those living with TSC, both individuals and caregivers. We want to make sure that as an organization, we are pushing research forward by a research platform that we've helped create through the years, and we want to make sure that people are diagnosed early and receive appropriate care. So it's really important to us to raise awareness in the general public, but also among the professional community.   Michael Hingson ** 21:52 So this is the 50th anniversary of the TSC Alliance. Yes, it is. And I would dare say, based on what you're talking about, there's a lot to celebrate.   Kari Luther Rosbeck ** 22:04 We have so much to celebrate. Michael, there's been so many accomplishments over the years, from the creation of our professional advisory board early on that provided guidance to the organization to today, we have three FDA approved drugs specifically to treat TSC as an organization in 2006 we started the very first natural history database anywhere in the world that still exists today, with over 2700 participants, and that allows us to really understand how TSC progresses through a lifetime, and then we, as an organization, in partnership with a group of our TSC clinics, helped with the first preventative clinical trial for epilepsy in the United States, and that was really to look at Babies with TSC to treat them before the first seizure, to see if we can prevent or delay epilepsy.   Michael Hingson ** 23:07 So So tell me a little bit about the the three different drugs that are available. What? What do they do? Without getting too technical, how do they work, and so on, because, obviously, the tumors are there. And so what do the drugs do to address all of that   Kari Luther Rosbeck ** 23:24 great question, the first approved drug for TSC everolimus is an mTOR inhibitor, mammalian target of rapamycin. So if you remember I talked about the two TSC genes working as a complex to control the genetic underlying genetic pathway. Well, that underlying genetic pathway is mTOR, and there happened to be a class of drugs that was developed to help with organ transplant and anti rejection. Ever roll. This is a synthetic of rapamycin that was found on rap a rap the islands, rap immune island. So what that particular drug has been approved for, and how it works in TSC is to shrink certain types of brain tumors to shrink tumors in the kidneys, and it's also used as adaptive therapy for seizures associated with TSD. So what we know is it is extremely effective, but if you go off the medication, the tumors will grow back. So it's not a cure, but it's moving in the right direction, right second drug that was approved is the first FDA cannabinoid drug, Epidiolex, and that treats seizures associated with TSC. The third approved drug is a topical rapamy. So it treats those skin tumors on the face. I   Michael Hingson ** 25:04 don't know. It's really interesting. Medical science comes up with all these terms that are tongue twisters. How do they do that? You're 100% correct. Oh, it's a fun world. What's on the horizon, what kinds of things are coming that will kind of either enhance what they do or other sorts of medications? Yeah,   Kari Luther Rosbeck ** 25:28 thanks for asking that. So I think for us, in 2019 we put together a really aggressive research, research business plan, and our goal with this was to ultimately the vision change the course of TSC, and so we have a research platform that really helps accelerate drug development. So we fund research grants or young investigators to keep them interested in the field and to generate new ideas. We have a pre clinical consortium where we work with a contract research organization. We've licensed different mouse models that can try drugs for both epilepsy and tumor growth and behaviors, and so that is really built a pipeline of new potential therapies for TSC we also have this clinical research consortium that we work with. We have 74 TSC clinics across the country, of which 17 are centers of excellence, and we're working with our TSC clinics and centers of excellence to when drugs come out of the pre clinical or when companies come to us and they want to institute clinical trials, we will work with them to be in touch with our clinics, to educate our community about what clinical trials are out there, so they know what questions to ask or how to appropriately weigh risk benefit, so that's a really important part of our platform. We also, I mentioned earlier, a natural history database to help us understand how TSC progresses through a lifetime, but also a bio sample repository, so we'll understand why TSC is so different person to person. So with all of those tools working together, what we want to do is ultimately determine how to predict an individual's risk for the many manifestations of TSC so if we knew who was at risk, say, for epilepsy, and we could intervene to delay or prevent epilepsy. Could we do the same with kidney tumors? So that's what I mean about predicting and prevention. We would like to develop biomarkers to help accelerate outcome measures and clinical trials. We would love to have an intervention early on. Remember, I said that we helped start the first preventative clinical trial for epilepsy. You need an intervention to get on the newborn screening panel. If we could be on the newborn screening panel and identify babies early, that is the greatest way to change the course of the disease. Of course, we obviously want to test more compounds in our pre clinical consortium to make sure that we are building that pipeline for new and better drugs in the future, and we definitely want to develop patient reported outcomes. So how does this disease impact quality of life for individuals and families living with it, so that we'll know in the future, if there are different potential treatments, does it impact or improve their quality of life? And the FDA looks at patient reported outcomes quite seriously, so we want to build that for future clinical trials and clinical studies. Finally, one of the biggest unmet needs in TSC is what we call TSC associated neuropsychiatric disorders, or taint This is an umbrella term for brain dysfunction that includes everything from sleep problems to depression, anxiety, aggressive behavior, executive functioning, how people learn. So it is definitely an umbrella term, and almost everybody is impacted by tanned in some way that are living with TSC. So we want to better understand who might be at risk for which parts of tan so that we can intervene and improve quality of life.   Michael Hingson ** 29:55 Something that comes to mind we hear people talking. Think a fair amount today about gene therapy and how all of that might work to cure various diseases and so on. Is there room for that in Tse, since especially it's caused by two specific genes?   Kari Luther Rosbeck ** 30:14 Great question. We actually are working with some gene therapy companies in our pre clinical consortium looking to see if we can intervene that way.   Michael Hingson ** 30:26 It's a few years off, yeah, I can imagine, but it would be an interest if, if it truly can be done, since you're clearly able to tell that there are specific genes that are that are causing this. It's an interesting concept, given the state of science today, to think about whether that could lead to, even if it's not immediate, but later, cures for TSC and other such things, and   Kari Luther Rosbeck ** 30:57 we might start with organ specific gene therapy. For instance, if we had gene therapy early on in the brain, again, thinking about preventing seizures from ever developing, if we were able to implement gene therapy in the kidneys so or lungs so women never develop lamb, that would be a huge breakthrough. Yeah. So thinking about how that might work and how that could impact our community is tremendous,   Michael Hingson ** 31:28 I would think so. And I would think if they are able to do some work in that regard, it would be very revolutionary. And obviously, the more we learn about gene therapy overall, the more it will help with what medical science can do for TSC as well. That's right. So what does the Alliance do for families and individuals? What kinds of specific things do you all do?   Kari Luther Rosbeck ** 31:57 Yeah, we have   32:00 developed 14   Kari Luther Rosbeck ** 32:01 community regions across the country where we work with our volunteers. So they'll in their regions, host community educational meetings, walks, where they bring the community together, which is hugely important offer peer to peer support. So that is on a regional level. On our team, we have support navigators, so people that are available to take calls, emails, texts to really help when people either receive a new diagnosis, will spend a lot of time making sure they get to the right clinics, resources, support systems, or when a new manifestation arises, or if people are having some access to medication or access to care issues, we have a TSC navigator so that is a proactive online tool that people can log into and that will really take them through the journey in a way they want to gain information. So it's really written in in small bites, so that if people want more information, they can dive deeper. That's hugely important for individuals impacted. We have regular webinars, regional conferences, and every four years we hold a World Conference. Well, we will bring in experts from all over the world to cover the many manifestations of TSC so people are informed to make the best decisions for them and their families. They'll also talk about new clinical trials or new research on the horizon, or they're talk about social service tools that are really important for living or guardianship or financial planning, so those things that aren't just medical, but really impact people's lives.   Michael Hingson ** 33:57 So today, what, what do you think? Or how would you describe, sort of the social attitude toward TSC and people with TSC, or is it, is it more manifested in Well, this guy has seizures and so on, so TSC doesn't directly tend to be the thing that society views.   Kari Luther Rosbeck ** 34:22 That's a great question. And because TSC is so variable, I'm going to say to you, it's different person to person. One of the things we did a few years ago was create these little business cards that described what TSC was. So if somebody's out at a restaurant, they might hand it to their waiter or waitress to say, We want you to know that our for instance, our child has TSC and so you understand what you might see as you wait on us. For example, I still think that for those that are more severely in. Acted. I talked about tanned and some folks with more severe behaviors. You know, our society, it's attitude, right? You talked about that in your presentation of diversity to inclusion, we need to be much more understanding when a family is trying to handle a seizure or or behaviors and not pass judgment on that family, let the family handle that situation. So I would just say it's individual to individual, but one of the most amazing experiences, as is at our world conferences, where everybody can just be. And everybody understands that TSC is variable. And you might have a child over here with a seizure dog. You might have an adult group in one corner talking and dancing, but everybody comes together, yeah,   Michael Hingson ** 35:58 yeah. And that's really important to do, and that's you raise a really good point. Obviously, dogs are learning to be better at seizure detection. And I was going to ask about that, because I assume that that certainly can play into helping people who have seizures, who have TSC.   Kari Luther Rosbeck ** 36:18 That is absolutely correct earlier. You asked about what it was like early on, we didn't have a lot of seizure dogs at our early conferences. That's something that really has been happening after, say, 2010 we've definitely seen a lot more seizure dogs be trained and really be helpful to families.   Michael Hingson ** 36:39 Yeah, well, and we have come so far in terms of training dogs to be able to detect seizures and detect so many things. One of my favorite stories, and it's not a seizure detection as such, but one of my favorite stories, is about a Portuguese water dog who was a show dog, but he or she, rather, was also trained to do cancer detection. And the owner, who was very competitive in doing show dog type things, as well as had started a company or a facility to deal with cancer detection, took his dog to the show, to a dog show. And every time the dog got near this one judge, it just laid down. It would not perform, it would not work. And so needless to say, this national champion didn't do very well at that show. And the guy couldn't figure out why. And he got home, and he suddenly realized, oh my gosh, I had taught the dog to lay down whenever it detected cancer, because you don't want to do something dramatic, right? And so he called the woman who was the judge, and he said, Do you have cancer? And she says, No, I don't have anything like that. Then he said, Well, you might go check that out, because and he told her, this was like a Monday when he called her, and Friday she called him back, and she said, I took your advice. And it turns out I have early stage breast cancer. We caught it in time, and it's all because of your dog.   Kari Luther Rosbeck ** 38:04 Oh my gosh, Michael, what an amazing story   Michael Hingson ** 38:10 it is. You know, we we really underestimate our dogs. I know that the first diabetic dog was a dog who who kind of learned it on his own. His person had occasional insulin reactions, and the dog became agitated. And finally, the guy realized, oh my gosh, this dog knows what I'm going to have an insulin reaction. And that led to dogs for diabetics, which is another, of course, sort of same thing that the dogs really can learn to do so many things today.   Kari Luther Rosbeck ** 38:44 Yes, yes, they can.   Michael Hingson ** 38:48 So there's always room for dogs. So we talked, I think, in sort of terms, about your the the whole research platform that you all have developed tell us more about the research platform and what it is and where it's going.   Kari Luther Rosbeck ** 39:06 Well, I definitely talked about all of the tools within our research platform. I think we're certainly taking a deeper dive into all of the tools that that we've developed, when we think about, for instance, our bio sample repository, one of the things we're doing right now is whole genome sequencing. Why? Because we're hoping with whole genome sequencing, we'll understand if there are modifier genes. Are there other things at work that makes some people more severe than other others, and then ultimately, what we'd love to learn is what medications might work best on each individual or personalized medicine, so often in TSC with seizure medications, people end up on a cocktail. We would rather avoid that, right? Wouldn't it be nice to get the medication right the first time? That's really what we are hoping for with our clinical research consortium. Right now, we're doing a couple of quality improvement studies, so one of them is around suit up or sudden, unexpected death from epilepsy, and really understanding the conversations that happen between a physician and a patient or a caregiver, and why aren't those conversations happening in TSC or when are they happening? Because we want to create change so that parents know the risks, or individuals understand the risks, and can they change their behavior to mitigate some of those risks? The other thing that we are doing is we started a reproductive perinatal Health Initiative. This came out of our 2002 world conference because we heard from a bunch of adults that this was a gap for TSC. So TSC is variable. We have some independent adults that may want to start a family someday, but we have no no consensus guide guidance, to guide them in making those decisions. So we put together a group of experts in maternal fetal health, pulmonary nephrology, imaging genetics, to come together to first talk about what are risk stratifications, both for women that are may experiences complications in pregnancy. What are those? What's a risk stratification for each individual? Also, how do we handle perinatal health? How do we care for fetuses of women with TSC, or fetuses where they have been diagnosed with TSC, and what are those recommendations and steps? So that's a real focus for us at our organization, really filling the gaps where those exist. So that's a couple of the things that that I would mention.   Michael Hingson ** 42:16 An interesting question that comes to mind, do you see prejudices or misconceptions that cause difficulties within medical science. And I ask that because I know from a blindness standpoint, so often, when a person goes into an ophthalmologist because they're having eye problems, they go in and the doctor will say, eventually after diagnosis, well, you have retinitis pigmentosa, you're going to go blind. There's nothing I can do, and literally, just walk out of the room without ever dealing with the fact that this person can still be a very normal person. Do you see any of that kind of stuff in the world of TSC so   Kari Luther Rosbeck ** 42:56 early on, less today, but we still hear about it when people are handed the diagnosis of TSC, they it could be very cold. Physicians would say, your child will never walk, they'll never talk, they'll never live a normal life. That's horrible, like you're taking away that hope. And that may not be the case for each individual with TSC, I think some of our families, when their infants begin to have a devastating type of seizure called infantile spasms that can look just like a head nod, sometimes they are misconstrued for indigestion or startle reflex, and They try to get care for their baby, they're told that they're just being paranoid and crazy. It's nothing, but the it's up to the parents right to continue to advocate, because they know something is not right and that that is the right course of action. And then for adults, I think sometimes our adults living with TSC really struggle with adequate care. We've done a really good job of pediatric care specifically for TSC, but as a country, we could do a lot more for those with developmental disabilities, including TSC and providing adequate transition from adult care, these are the places that I see prejudice or roadblocks put up for our families.   Michael Hingson ** 44:33 How do you teach or what do you do to teach parents and adults, especially about being stronger advocates.   Kari Luther Rosbeck ** 44:43 Well, first of all, we tell them to trust their instincts and trust their voice and to not give up if you're hitting a roadblock. One place call us. Maybe there are other other clinical care that we can provide for you. Yeah. If you're having an issue at work, it's really important that you get the right support to advocate for yourself, but to never, ever give up, ever give up.   Michael Hingson ** 45:11 Yeah, that's really, of course, the important part, because ultimately, and I think it's true for most all of us, we know ourselves better than anyone else. And as parents, we know our children better than anyone else, and certainly should never give up and work very hard to be strong advocates to support what their needs are and support them to grow and advance.   Kari Luther Rosbeck ** 45:36 That's exactly correct,   Michael Hingson ** 45:41 and it needs to happen a whole lot more, because all too often, I can imagine hearing people say, well, it's nothing, it's just your it's your imagination. Well, no, it's not, you know, but we see way too much of that kind of thing happening in the world. So it's great that that you're able to do so much. What about in the in the professional world, or in just dealing with people and their lives? What? What kind of things are you able to do to, let's say, help support somebody who wants to go out and get a job?   Kari Luther Rosbeck ** 46:21 Sure? We point them to local resources that might be an expert in that. We also have navigation guides that might help them, that are a supplemental resource to our TSC navigator. We have adult topic calls and adult open forums so that they might also get guidance and advice from their peers that have walked that journey. So those are some of the resources that we will help people who want to get a job   Michael Hingson ** 46:55 do Centers for Independent Living help.   Kari Luther Rosbeck ** 47:00 Are you familiar with those? No, I'm not familiar. Sorry, I'm not familiar. So the   Michael Hingson ** 47:04 CIL system is a system of independent living centers. It really started, I don't know, but I think in Berkeley, it's centers that teach and advocate for the whole concept of being able to live independently, and deals a lot with physical disabilities, and I'm not sure how much the developmental disability world interacts in the CIL it may be a lot more of a physical thing than anything else.   Kari Luther Rosbeck ** 47:32 Well, always great to have new resources that we can share with our community. It's worth   Michael Hingson ** 47:38 exploring Absolutely, because it could very well lead to something that would be helpful, not sure, but it's always worth exploring. The arc is   Kari Luther Rosbeck ** 47:47 another organization I was gonna ask about that frequently. Yes, we've, we've had a partnership with the arc in the past. Many of our community regions obviously work with local arc chapters. It is a partnership that we truly value, and they have a ton of resources that are available for individuals, seeking jobs, seeking Independent Living, seeking so or housing for families. So we don't need to replicate what somebody is already doing. Well, we will partner with that organization,   Michael Hingson ** 48:25 and that makes sense. There's no sense in replicating. It's all about collaborating, which makes a lot more sense to do. Anyway,   Kari Luther Rosbeck ** 48:33 exactly we agree.   Michael Hingson ** 48:36 Well, so what are so, what are your your sort of long term goals from here? Oh,   Kari Luther Rosbeck ** 48:45 long term goals from here? Well, we want to continue to improve quality of life for everyone. We want to make sure that there is adequate transition between childhood and adult in terms of medical care, independent living, or housing or schooling, or whatever that transition may employ, we really want to make sure that we continue the pipeline of new treatments. We want to drive towards a cure. We want to support and empower every family living with TSC. One of the things that we've really been able to do because of advocacy, is to grow the TSC research program at the Department of Defense. So this is a congressionally directed medical research program. There's been an appropriation for TSC since fiscal year, 2002 and cumulatively, 221 million has been appropriated for TSC research. We want to continue to grow that. But on a state level, we've also had some success in growing state funding for. TST clinics in particular states, and for TSC research at those institutes. So over 5.7 5 million have been advocated, have been appropriated from the states of Maryland and Missouri and Michigan and Alabama. So very excited about continuing to grow that that program, as I mentioned, I think getting on the newborn screening panel would be a game changer for TSC, complete game changer. And we want to continue to grow our advocates and grow those that are available as leaders in their communities to offer support to others.   Michael Hingson ** 50:39 So the funding comes through the Department of Defense. Why is that?   Kari Luther Rosbeck ** 50:44 It is a program that is high risk, high reward. You have to have some military relevance. So so for TSC, obviously, our connection to epilepsy and our mass models that are used for developing epilepsy medications, those mass models can also be used to look at traumatic brain injury. So that's a connection. It's high risk, high reward. So understanding the underlying biology of TSC and finding that genetic pathway that I mentioned was one of the hallmark achievements early on of this program. So it's, it's, it is so amazing. The early gene therapy work for TSC started at the TSC research program at the Department of Defense.   Michael Hingson ** 51:33 And I gather you're probably getting a lot of really good support from DOD. So   Kari Luther Rosbeck ** 51:38 it doesn't come to the TSC Alliance, we advocate to make that funding available to researchers around the country. So we think of that as part of our mission for driving research. But we don't see a dime of that. Those dollars, they all go through Fort Detrick and through the Department of the Army, right? The other cool thing, though, Michael is we nominate consumer reviewers, so people that help advocate for these funds also sometimes get a seat at the table to say what research would be meaningful for their lives as a consumer. And that is a really cool, unique thing that happens.   Michael Hingson ** 52:21 Yeah, well, and I was asking about support, I was thinking more of their they're perfectly willing and pleased to be a part of this, and are really open to helping and really contributing to the research, because I would think it would help all the way around 100%   Kari Luther Rosbeck ** 52:40 and the one thing is the TSC Alliance, the DOD and NIH. We all work together so that we're not duplicative. But we have, there was a research strategic plan that was developed out of a workshop at NIH that we all follow as kind of our guiding principle. We all do different things, and we all complement each other. So out of that NIH plan, for instance, a bio sample repository and preclinical consortium was recommended, and recommended that the TSC alliance is the patient advocacy group, be the one that started that and continues to make sure that those resources continue. That's just an example. Obviously, DOD does high risk, high reward. And NIH, you know, the prevent trial that I mentioned, the first preventative trial for epilepsy in United States, was funded by the National Institute of Neurological Disorders and Stroke. We helped educate the community so that people would want to participate.   Michael Hingson ** 53:46 Well, it's, I think, important and relevant to ask, how can people get involved? What can the rest of us all do?   Kari Luther Rosbeck ** 53:54 Oh my gosh, I'm so glad you asked. Well, please go to TSC alliance.org, learn more about the organization. Become a volunteer. Help us. Help us with our walks, help us with our conferences. You can certainly get involved. If you're an individual with TSC and you want to get connected through social media, you can go to Facebook, Instagram, LinkedIn, YouTube, even Tiktok at the SC Alliance, we have very active discussion groups Michael that offer peer to peer support. 24/7 especially on Facebook, it is a private group, and those group of individuals and families have been so supportive for anyone walking this journey, you can call us at 1-800-225-6872, if you need support, you can ask for a support navigator. If you're interested in helping us with fundraising or making a donation, you can ask for our development department. If you want to volunteer, ask for. Community programs, we want all takers, and we're always also happy to talk with any organization, any nonprofit, that's wanting to pull together their programs, seek advice or work as a partner,   Michael Hingson ** 55:15 and what's the phone number? Again? 1-800-225-6872,   Michael Hingson ** 55:24 and the website is TSC   Kari Luther Rosbeck ** 55:26 alliance.org,   Michael Hingson ** 55:29 cool. Well, I've asked lots of questions. Have I left anything out? Any other things that you think we ought to cover? I   Kari Luther Rosbeck ** 55:37 think you did a great job. I would just say if anybody wants to join us at our 50th Anniversary Gala, we'd love to have you. TSD alliance.org, backslash 50 Gala. We will be celebrating october 25 at ciprianis in New York City, and we'd love to have you with us. Ooh, that sounds like it'd be fun. I know you gotta get your family to bring you this time. Well, yeah,   Michael Hingson ** 56:07 if they're going to come, they should, should take me. I'm trying to think, I don't know whether I'll be anywhere near there at the time, but my schedule changes all the time, so it's sort of like everything else you never know. But I will keep that in mind, because it would be fun to come and get to meet you in person. I would love that. Well, I want to thank you for being here with us. This has been, needless to say, very educational and very enjoyable. And of course, as you know, I have the personal stake of a great nephew, but just being able to talk about it, to hear the progress that's being made as, I think, really crucial and really important to be able to let people be aware of and I hope that people who do hear this will get involved, will at least learn more about it. Have you written any books or anything? I have   Kari Luther Rosbeck ** 56:57 not written any books. Oh, we got to get you to work. That's right, you're an inspiration.   Michael Hingson ** 57:04 Well, something to work on. You should? You should write a book about it all. That'd be a new project. It's not that you don't have enough to do, though. That's   Kari Luther Rosbeck ** 57:13 right. Michael, I'm too busy taking care of our community right now, but when I retire, that might be something I think about. Well, there   Michael Hingson ** 57:21 you go. Well, I want to thank you again for being here. This has been, I will say, enjoyable, but it's been most educational. I've learned a lot, and I appreciate your time, and I hope that, as I said, everyone else has as well. So I want to thank you for being here, and anytime in the future you want to come back and talk some more about what's going on and tell us about other new, revolutionary changes and so on. You are always welcome.   Kari Luther Rosbeck ** 57:46 Thank you. Michael, I'd love to come back. Well, thank   Michael Hingson ** 57:50 you again, and let's do it anytime you'd like, Okay, you got it.   **Michael Hingson ** 58:01 You have been listening to the Unstoppable Mindset podcast. Thanks for dropping by. I hope that you'll join us again next week, and in future weeks for upcoming episodes. To subscribe to our podcast and to learn about upcoming episodes, please visit www dot Michael hingson.com slash podcast. Michael Hingson is spelled m i c h a e l h i n g s o n. While you're on the site., please use the form there to recommend people who we ought to interview in upcoming editions of the show. And also, we ask you and urge you to invite your friends to join us in the future. If you know of any one or any organization needing a speaker for an event, please email me at speaker at Michael hingson.com. I appreciate it very much. To learn more about the concept of blinded by fear, please visit www dot Michael hingson.com forward slash blinded by fear and while you're there, feel free to pick up a copy of my free eBook entitled blinded by fear. The unstoppable mindset podcast is provided by access cast an initiative of accessiBe and is sponsored by accessiBe. Please visit www.accessibe.com . AccessiBe is spelled a c c e s s i b e. There you can learn all about how you can make your website inclusive for all persons with disabilities and how you can help make the internet fully inclusive by 2025. Thanks again for Listening. Please come back and visit us again next week.

Tuberous sclerosis complex is a genetic disorder that is characterized by tumor growth in various organs in the body, as well as neurological effects. Most people with TSC experience epilepsy early in life and many develop autism or other neuropsychiatric issues. The TSC Alliance has invested more than $37 million in research since 1984. Its efforts and collaborations have resulted in six U.S. Food and Drug Administration approved treatments for some aspects of the disease or related conditions. We spoke to Steve Roberds, chief scientific officer of the TSC Alliance, about the organization's success with crafting a research agenda, how it's been able to invest in ways that catalyze research, and what it's done to facilitate drug development by industry.

The traditional starting point for many gardeners - Easter - falls early this year, so there's much to be getting on with. Dig It's Peter Brown and Chris Day bring us the latest events, news and topical advice for the month.Plants mentioned: Forsythia, Snowdrops, Winter Aconites, Narcissi, Ulmus wredei, Buxus, Euonymus Jean Hugues and Green Spire, Daffodils, Dahlias, Gladioli, Freesia, Tuberous begonias, Sunflowers, Zinnia, and Cosmos. Veg plug plants, seeds of Cabbage, Tomatoes, Runner beans, Courgettes, Squashes, Rhubarb varieties Timperley Early, Glaskin's Perpetual and Victoria. Onion Stuttgarter Giant, Hercules F1 and Centurion F1.Products mentioned: Garden hoe, Compost mulch, Hotbin Composter and potato polybags.What's onTuesday 2nd March The Woodland Trust, our charity of the year will be joining us at the Garden Centre.Tuesday 2nd - 10th March: Philadelphia Flower Show at the Pennsylvania Convention Centre, Philadelphia, USSunday 17th March: Rare Plant Fair at The Bishop's Palace, Wells, Somerset, 10am - 4pm.20th -24th March: Melbourne International Flower & Garden Show, Royal Exhibition Building & CarltonWednesday 20th March: Orchid Day at the Garden Centre with Manos Kanellos, 11am-3pm.Saturday 23rd March: Digby Hall Plant Fair, Sherborne, Dorset. 10am-2pm. Free admission.Saturday 23rd – Sunday 24th March: Falmouth Spring Flower Show. This historic show features 100 classes, expert talks and activities.Monty Don's Spanish Gardens on BBC iPlayerNewsTV Dr Amir Khan's thoughts on gardening and mental healthA new study by the University of Surrey's Global Centre for Clean Air Research highlighting useful evergreens which are best to clean the air.Plant Heritage are asking gardeners across the UK to search for any rare or unusual plants in their Threatened Plants of the Year 2024 Competition.New naturally resistant Elms are planted in Scotland.Help for hedgehogs as robotic lawn mowers create a new safety concern.Garden Centre highlights extent of current retail crime and violence.A garden planned for Queen Elizabeth.A call to arms from Monty Don encouraging shoppers to buy peat-free.Lichens on the International Space Station.Stink bug causes chaos Down Under.Name your plants from Westland research.Seiont Nurseries embrace peat-free production.A new magnolia discovered in northern Honduras.Garden resilience is set to change Sheffield Park and Gardens in major re-vamp.Floral clock to be restored at Weston-Super-Mare.Brogdale; One of the world's largest fruit tree collections sold.Blueberry blues as scientists reveal the secret of its colour.Welsh gardeners are offered £20 vouchers to remove Cotoneaster horizontalis.Time to get spotting with the RHS Bumblebee Trust survey.Celebrating 125 years of the HTA.Mr Plant Geek is the host for the new RHS Urban Show in Manchester. Dig It's top 5 top selling composts of last season. Top seller Jack's Magic All Purpose Improved, 2nd The Gardeners Multi-Purpose from Westland 3rd Levington Multi-Purpose plus John Innes, 4th Miracle-Gro Peat Free Compost and 5th Westland New Horizon All Plant CompostOur thanks to Chiltern Music Therapy for supplying the music. Hosted on Acast. See acast.com/privacy for more information.

This episode covers tuberous sclerosis.Written notes can be found at https://zerotofinals.com/medicine/neurology/tuberoussclerosis/ or in the neurology section of the 2nd edition of the Zero to Finals medicine book.The audio in the episode was expertly edited by Harry Watchman.

How much does Google weigh? Tuberous vegetable discussion time! Do Fraggles have doctors? How did Traveling Matt get to Australia? Let Marjory knit! Fancasting the Hairy-Chested Batworm. The different flavors of Mokey + Power. The script idea that (thank goodness) never was. The Fraggles can have a little religion, as a treat. With special guest Joe Hennes of ToughPigs.com!

Listen as Dr. London Smith (.com) and his producer Cameron discuss Tuberous Sclerosis with special guest Tom Tobaggan (Alex Bozinovic).  Sponsored by Caldera + Lab (use code "jockdoc" to get 20% off!). Not so boring! https://calderalab.com/pages/podcast-special-offer?show=Jock+Doc&utm_medium=podcast&utm_source=JocDoc https://www.patreon.com/join/jockdocpodcast Hosts: London Smith, Cameron Clark. Guest: Alex Bozinovic. Produced by: Dylan Walker Created by: London Smith

Dr. Jay Calvert & Dr. Millicent Rovelo discuss Tuberous Breast Deformity! The docs dive into the unique problems and solutions for Tuberous Breast Deformity! -- Dr. Jay Calvert & Dr. Millicent Rovelo are Board Certified Plastic Surgeons located in Beverly Hills, California! Dr. Jay Calvert - drcalvert.com @DrJayCalvert Dr. Millicent Rovelo - roveloplasticsurgery.com @RoveloPlasticSurgery Follow the Podcast on Instagram - @BeverlyHillsPlasticSurgeryPod LISTEN HERE: Apple Podcasts - https://podcasts.apple.com/gb/podcast/the-beverly-hills-plastic-surgery-podcast-with-dr/id1481017059 Spotify - https://open.spotify.com/show/6rwIdK6oUptZV0X55Dvn76

On this episode, Sean tells you about the 7 different kinds of Begonias out there, including ones that might even grow in your garden. Listen to find out more! You never know until you try!

In this episode, we review the high-yield topic of Tuberous Sclerosis⁠ ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠from the Neurology section. Follow ⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠Medbullets⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠⁠ on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbullets

HIgh-yield review of tuberous sclerosis for radiology board review.  Check out the free study guide on this episode at www.theradiologyreview.com.  Prepare to succeed!

$5 Q-BANK: https://www.patreon.com/highyieldfamilymedicine Intro 0:30, Potter sequence 1:40, Renal agenesis 2:40, Renal cysts 4:01, Autosomal dominant polycystic kidney disease (ADPKD) 4:59, Autosomal recessive polycystic kidney disease (ARPKD) 6:40, MCKD and JNPH 7:58, Tuberous sclerosis 8:19, Von Hippel Lindau 8:57, Horseshoe kidney 9:53, Ureteropelvic junction obstructions 10:34,  Voiding cystourethrography (VCUG) 11:10, Vesicoureteral reflux 12:00, Posterior urethral valves 11:21, Hypospadias 14:15, Epispadias and bladder-exstrophy-epispadias-complex (BEEC) 15:10, Prune Belly Syndrome 15:58, Disorders of sexual development 16:36, Ambiguous genitalia 17:39, Embryology of sex differentiation 20:11, Anti-Mullerian hormone 20:52, Testosterone 21:19, Dihydrotestosterone 21:50, 5a-reductase deficiency 22:04, Androgen insensitivity syndrome 22:21, Aromatase deficiency 23:29, Congenital adrenal hyperplasia 24:25, 21-Hydroxylase deficiency 26:35, Other causes of CAH 30:36, Kallman syndrome 32:12, Semil-Lemil-Opitz syndrome 32:53, Practice questions 33:22

Episode 105: Renal Cell Carcinoma. Manpreet and Jon-Ade explain how to diagnose renal cell carcinoma. Introduction about age and kidney transplant by Dr. Arreaza and Dr. Yomi. Introduction: Too old for a new kidney?By Hector Arreaza, MD. Discussed with  Timiiye Yomi, MD.Today we will be talking about the kidneys, those precious bean-shaped organs that detoxify your blood 24/7. Amazingly, we can live normal lives with one kidney, but when the kidney function is not good enough to meet the body's demands, patients need to start kidney replacement therapy. Modern medicine has made a lot of advances with dialysis, but the perfection of a kidney has not been outperformed by any machine yet. That's why kidney transplant is the hope for many of our patients with end-stage kidney disease.The need for a kidney transplant is growing, likely due to increasing chronic diseases such as diabetes and hypertension, and also because of an increase in elderly population. About 22% of patients on the kidney transplant waiting list are over age 65. A cut-off age to receive kidney transplant has not been established across the globe. Different countries use different criteria for the maximum age for transplant. The American Society of Transplantation's guidelines states “There should be no absolute upper age limit for excluding patients whose overall health and life situation suggest that transplantation will be beneficial.” So, if your patient is older than 65 and needs a kidney, they may qualify for a transplant, and age should not be an absolute contraindication to receive it. Actually, older patients may have lower risk of rejection due to a theoretically weaker immune system. A live donor is likely to be a better option for elderly patients. A condition that would make your elderly patient a poor candidate for kidney transplant would be frailty. Common contraindications to kidney transplant include active infections or malignancy, uncontrolled mental illness, ongoing addiction to substances, reversible kidney failure, and documented active and ongoing treatment nonadherence.So, remember to take these factors into consideration when deciding if you need to refer your elderly patients for a kidney transplant, there is no such thing as being too old for a new kidney if your patient meets all the criteria for a transplant.This is Rio Bravo qWeek Podcast, your weekly dose of knowledge brought to you by the Rio Bravo Family Medicine Residency Program from Bakersfield, California. Our program is affiliated with UCLA, and it's sponsored by Clinica Sierra Vista, Let Us Be Your Healthcare Home. This podcast was created for educational purposes only. Visit your primary care physician for additional medical advice. Renal Cell Carcinoma. By Manpreet Singh, MS3, Ross University School of Medicine, and Jon-Ade Holter, MS3 Ross University School of Medicine. Moderated by Hector Arreaza, MD. Definition:Renal cell carcinoma is a primary neoplasm arising form the renal cortex. 80-85 percent of renal tumors are renal cell carcinomas followed closely by transitional cell renal cancer and Wilms tumor.  Epidemiology: In 2022, 79,000 new cases of kidney cancer were diagnosed with almost 14,000 mortalities. There is a 2:1 male to female ratio and the average age is 64 and normally 65-74. African Americans and American Indians have a higher prevalence rate compared to other racial groups. The lifetime risk for developing kidney cancer in men is about 1 in 46 (2.02%) and 1 in 80 (1.03%) in women.  Risk Factors associated with RCC: Anything that causes assault to the kidneys and affects its function would cause increased demand, injury, and inflammation. This assault can lead to cell derangement and lead to cancer. The risk factors that have been associated with RCC are smoking, obesity, HTN, family history of kidney cancer, Trichloroethylene (a metal degreaser used in large manufacturing factories), acetaminophen, and patients with advanced kidney disease needing dialysis. Patients with syndromes that cause multiple types of tumors: VHL (von Hippel-Lindau) deficiency, a tumor suppressor, gives rise to clear cell renal cell carcinoma. Familial inheritance of VHL deficiency is mostly found in patients that have RCC at a very young age, before 40 y/o. Other tumors can be found in the eye, brain, spinal cord, pancreas, and pheochromocytomas.Hereditary leiomyoma-renal cell carcinoma due to FH gene mutations causing women who have leiomyomas to have a higher risk of developing papillary RCC.Birt-Hogg-Dube (BHD) syndrome mutation in FLCN gene who develop various skin and renal tumors.Cowden syndrome is a mutation in the PTEN gene giving rise to cancers associated with breast, thyroid , and kidney cancers.Tuberous sclerosis causes benign tumors of the skin, brain, lungs, eyes, kidneys, and heart. Although kidney tumors are most often benign, occasionally they can be clear cell RCC. Screening For RCC:Screening is unnecessary because of the low prevalence of this cancer in the general population, though certain groups require annual repeat imaging via US, CT, or MRI. Inherited conditions that are associated with RCC such as VHL syndrome or Tuberous SclerosisESRD patients who have been on dialysis for 3-5 yearsFamily history of RCCPrior kidney irradiation Clinical Picture: Most patients with RCC are asymptomatic until cancer grows large enough to cause disruption of local organs, such as the kidney, bladder, or renal vein, and dysregulates other organs via metastasis. Therefore, it's important to look at other signs and symptoms caused by RCC.  The patient most likely will be an older male who presents with the classic triad of: Flank pain: caused by rapid expansion and stretching of the renal capsule.Hematuria: occurs from the invasion of the neoplasm into the collecting duct.Palpable abdominal mass: mass tends to be homogenous and mobile with respirations. Though this presents only in 9% of patients during the presentation, having physical symptoms is a sign of advanced disease and 25% of patients with these signs tend to have distant metastasis.  Anemia: normally associated with anemia of chronic disease. It precedes the disease by at least 8 months to 1 year. Males can develop varicoceles because of decreased emptying due to neoplasm obstruction. Patients normally develop varicoceles on the left due to the spermatic vein emptying in the higher resistance left renal vein, which causes backup of the blood in the pemphigus plexus. Though a right-sided varicocele should raise a higher suspicion of obstruction due to the spermatic vein draining directly into the IVC which is lower in resistance. A right-sided varicocele is seen in approximately 11 percent of patients. The paraneoplastic syndrome can also arise from RCCEpo: Erythrocytosis with symptoms of weakness, fatigue, headache, and joint pain.PTHrP: PTH-related peptide acts like PTH which gives rise to hypercalcemia with the prevalent symptoms of arthritis, osteolytic lesions, confusions, tetany, ventricular tachycardia, shortened QTc, and nausea and vomiting.Renin: overproduction from the juxtaglomerular cells can cause disarrangement of the RAAS system causing hypertension.Others also like ACTH and beta-HCG. Other disorders present include hepatic dysfunction, cachexia, secondary amyloidosis, and thrombocytosis. Workup If a patient comes in with painless hematuria, then the first test should be abdominal CT or abdominal ultrasound. A CT is more sensitive than the US but it can quickly indicate if the abdominal mass felt can be a cyst or a solid tumor.  US of kidneys should show if it's a simple cyst:-The cyst is round and sharply demarcated with smooth walls- It's anechoic – appears solid black-There is a strong posterior wall echo-Use the Bosniak classification to classify mass  Bosniak I: benign simple cyst with thin wall less than equal to 2mm, no septa or calcifications. No future workup is needed. Bosniak II: benign cyst, 3 cm diameter, requires f/u with US/CT/MRI at 6 months, 12 months, and annually for the next 5 years. Chance of malignancy: 5%.  Bosniak III: indeterminate cystic mass with thick, irregular or smooth walls. This requires nephrectomy or radiofrequency ablation. Chance of malignancy: 55%  Bosniak IV: Clearly a malignancy its grade III with enhancing soft tissue components that its independent from the wall or septum. Requires total or partial nephrectomy. Chance of malignancy 100%.  CT of the kidneys for a neoplasm should show:-Thickened irregular walls or septa -Enhancement after contrast injection are suggestive of malignancy-CT can also help detect invasion in local tissue areas such as renal vein and perinephric organs  MRI is used if the patient cannot use contrast or kidney function is poor. MRI can also evaluate the growth of the cancer. Other imaging studies:Other imaging studies that may be useful for assessing for distant metastases include bone scan, CT of the chest, magnetic resonance imaging (MRI), and positron emission tomography (PET)/CT. Treatment and staging Nephrectomy, partial or total, will be used as the initial tissue collection for pathology. If the patient is not a surgical candidate, you can also obtain a percutaneous biopsy. The nephrectomy is preferred because first, it serves as a definitive treatment option, but also it allows for definitive staging of the cancer with tumor and nodal staging. Regardless of the size, any solid mass may indicate malignancy and point towards RCC, requiring resection.   TNM staging Stage I: Tumor is 7cm across or smaller and only in the kidney with no lymph nodes or distant mets. T1N0M0 Stage IIa: Tumor size is larger than 7cm but still in the kidney but no invasion of lymph node or mets. T2N0M0 Stage IIb: Tumor is growing into the renal vein or IVC, but not into neighboring organs such as adrenals or Gerota's fascia and still lacks lymph node invasion and mets. T3N0M0.  Stage III: Tumor can be any size but has not invaded outside structures such as adrenals, though nearby lymph node invasion is present but not distant. There is no distant mets. T3N1M0. Stage IV:  The main tumor is beyond the Gerota's fascia and may grow into the adrenal gland . It may or may not spread to the lymph nodes or may not have distant mets. Stage IV also consists of any cancer that has any number of distant mets. T4 Adjuvant therapy can be done with immune therapy. Conclusion: Now we conclude our episode number 105 “Renal cell carcinoma.” This type of cancer may be asymptomatic until it is large enough to cause symptoms. Keep it on your list of differentials on patients with hematuria, flank pain, weight loss, and abnormal imaging. Keep in mind the features of simple kidney cysts vs complex cysts when assessing kidney ultrasounds. Your patient will be grateful for an early diagnosis of RCC and a prompt treatment. Even without trying, every night you go to bed being a little wiser.This week we thank Hector Arreaza, Timiiye Yomi, Manpreet Singh, Jon-Ade Holter. Thanks for listening to Rio Bravo qWeek Podcast. If you have any feedback, contact us by email at RioBravoqWeek@clinicasierravista.org, or visit our website riobravofmrp.org/qweek. Audio edition: Suraj Amrutia. See you next week!  Bibliography: Is There a Cut Off Age for Kidney Transplant?, Mayo Clinic Connect, Jul 18, 2017, https://connect.mayoclinic.org/blog/transplant/newsfeed-post/is-there-a-cut-off-age-for-kidney-transplant/ Atkins, Michael. “Clinical Manifestations, Evaluation, and Staging of Renal Cell Carcinoma.” UpToDate, January 21. https://www.uptodate.com/contents/clinical-manifestations-evaluation-and-staging-of-renal-cell-carcinoma American Cancer Society. “Key Statistics About Kidney Cancer”. Cancer.Org, 2022, https://www.cancer.org/cancer/kidney-cancer/about/key-statistics.html. Escudier B, Porta C, Schmidinger M, Rioux-Leclercq N, Bex A, Khoo V, Grünwald V, Gillessen S, Horwich A; ESMO Guidelines Committee. Electronic address: clinicalguidelines@esmo.org. Renal cell carcinoma: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up†. Ann Oncol. 2019 May 1;30(5):706-720. doi: 10.1093/annonc/mdz056. PMID: 30788497. https://pubmed.ncbi.nlm.nih.gov/30788497/. Gaillard, F., Bell, D. Bosniak classification system of renal cystic masses. Reference article, Radiopaedia.org. (accessed on 20 May 2022) https://doi.org/10.53347/rID-1006. Kopel J, Sharma P, Warriach I, Swarup S. Polycythemia with Renal Cell Carcinoma and Normal Erythropoietin Level. Case Rep Urol. 2019 Dec 11;2019:3792514. doi: 10.1155/2019/3792514. PMID: 31934488; PMCID: PMC6942735. https://pubmed.ncbi.nlm.nih.gov/31934488/. Leslie SW, Sajjad H, Siref LE. Varicocele. [Updated 2022 Feb 14]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2022 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK448113/. Maguire, Claire. “Understanding Endoscopic Ultrasound and Fine Needle Aspiration.” Educational Dimension, Educational Dimensions, 1 Jan. 2007, educationaldimensions.com/eLearn/aspirationandbiopsy/eusterm.php. Maller, V., Hagir, M. Renal cell carcinoma (TNM staging). Reference article, Radiopaedia.org. (accessed on 20 May 2022) https://doi.org/10.53347/rID-4699. Palapattu GS, Kristo B, Rajfer J. Paraneoplastic syndromes in urologic malignancy: the many faces of renal cell carcinoma. Rev Urol. 2002 Fall;4(4):163-70. PMID: 16985675; PMCID: PMC1475999. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1475999/.

#3. In this episode, I am talking with the incredible Dr. Jason Altman, a well known plastic surgeon in Miami who also happens to be the plastic surgeon who performed my breast augmentation. Here we dissect all things boob jobs from choosing a breast size, to the actual surgical and recovery experience. If you are considering getting a breast augmentation or are interested to learn about the whole process, this episode is absolutely for you. 01:25 Why did I do it? 04:00 How everything went down 08:40 Koko answering FAQ 12:00 Dr. Altman Intro 16:15 Why is surgery still a tabu? 18:00 Step by step process 24:00 Explaining different techniques 26:00 Scaring? 28:10 Recovery? 30:17 Silicone vs Saline? 36:12 Risks involved? 38:14 Pregnancy? 39:00 Breast lift and reduction? 44:30 Breast implant illness? 47:00 Tuberous breast correction 56:40 Final thoughts Follow Dr. Altman on Instagram & Tiktok Follow Koko on Instagram & Tiktok Follow Boujee Best Friend on Instagram & Tiktok --- This episode is sponsored by · Anchor: The easiest way to make a podcast. https://anchor.fm/app

In this episode, we review the high-yield topic of Tuberous Sclerosis from the Neurology section. Follow Medbullets on social media: Facebook: www.facebook.com/medbullets Instagram: www.instagram.com/medbulletsofficial Twitter: www.twitter.com/medbulletsIn this episode --- Send in a voice message: https://anchor.fm/medbulletsstep1/message

Shawn & Brian are visited by Faith Golden, a special education teacher, childhood development professional, & Grandmother to a child with a rare condition, Tuberous sclerosis. Join in as she shares her journey, challenges, & lessons. Faith's career with children goes back to age 8 when she began as a mother's helper in her neighborhood. The parents really appreciated having an extra pair of hands, especially the family with four children, two of them twins. Her major in college was a natural one, Home Economics with an emphasis on Child Development. The child development classes included developmental milestones, child psychology, family systems and a lot of observation and practice in the campus preschool. Faith graduated with her degree and teaching credential in Home Economics. She continued her course work with epidemiology and health science classes and a course to become a Lamaze teacher, which she taught for 13 years while she raised her son and daughter. When a fellow Lamaze teacher asked her, she took a job working with pregnant and parenting mentally disabled adults and found the work so fascinating that she went back to school to get a master's degree and credential to teach Early Childhood Special Education. After teaching special education adults and children for close to 20 years and working with over 2400 families. Faith left to open It's Aparent, Parenting and Behavior Specialists so she could work with individual families, with both “typical” and special needs children, to empower them to be the parents to their children that they always wanted to be. Faith also wanted to help all families whose children had special needs to navigate the special education system. Today, Faith is the Nana to 7 wonderful grandkids ranging in age from 11 to 26 months. She volunteers at (Child Development Institute) CDI helping with Child Development Screenings and other areas of need.

Episode 9 is divided in 4 sections, we will be discussing hot topics discussed on the AES conference at Chicago (2021). We will be discussing GLUT1 epilepsy, PCDH19 related epilepsy, CDKL5 related epilepsy, and Tuberous sclerosis. Dr Ortiz is passionate about neurology and currently working on a paper on PCDH19. He is very exited to discuss these topics today.

Brain cells from the cerebellums of mice that model show dampened levels of proteins controlled by FMRP, the protein missing in fragile X syndrome. The post "Molecular overlap links tuberous sclerosis, fragile X appeared first on Spectrum | Autism Research News

Brain cells from the cerebellums of mice that model tuberous sclerosis show dampened levels of proteins controlled by FMRP, the protein missing in fragile X syndrome.

Dr. Jay Calvert & Dr. Millicent Rovelo discuss Tuberous Breasts! What is Tuberous Breasts, and how is it treated? Submit questions & episode requests on Instagram @BeverlyHillsPlasticSurgeryPod! Contact Dr. Jay Calvert through his website www.drcalvert.com & Dr. Millicent Rovelo at roveloplasticsurgery.com. Follow the docs on Instagram! @DrJayCalvert @RoveloPlasticSurgery

Self-advocate Preston Fitzgerald discusses tuberous sclerosis (10 minutes) Preston is currently a student at the University of North Texas, studying Consumer Experience Management. He is an advocate for Tuberous Sclerosis Complex (TSC), which he was diagnosed with at seven months old. Follow Different Brains on social media: https://twitter.com/diffbrains https://www.facebook.com/different.brains/ https://www.instagram.com/diffbrains/ Check out more episodes of Exploring Different Brains! http://differentbrains.org/category/edb/

They also discuss alternative medicine options that they each have utilized and for which they feel strongly can be useful for those living with TSC and other chronic life-threatening conditions. Long term polypharmacy issues are incredible and waiting for pharmaceutical formulations of cannabis is not an option. We are witnessing suffering and mental/physical health issues that can be addressed in part through other modalities. Jill is a strong advocate for affordable access to cannabinoid medicine for those living with TSC. Brooke has had huge success utilizing Thrive-THRIVE Experience is an 8-week premium lifestyle plan, to help individuals experience and reach peak physical and mental levels. Brooke is a mom, TSC advocate, Adult Regional Coordinator for the TS Alliance, and also Hairstylist. Check out her Facebook here: https://www.facebook.com/brookey21 Jill Woodworth. (Human being. Writer,) Podcaster. Chronicler of being human. Parent of 5, 3 of whom have Tuberous Sclerosis Complex, each with varying effect Committed to giving voice to the underdog, the oppressed, those for whom being heard is crucial to survival and quality of life. If you are part of my world, which is everyone willing to take an honest look at their lives and discuss how the direst and desperate of situations often led to the most understanding and personal growth and compassion plus an inner motivation to work toward social good, then join my network! Let me know if you have a story to tell or if you need help to connect with this growing market. Contact me on linked in or drop me a note on https://tsctalks.com/ or pjlacy6@gmail.com. Offering podcast sponsorship, advertising, consulting, research, speaking and more. Here is an excerpt from the transcript, click link for full transcript: https://otter.ai/u/Y6Z9mem7vmGFueMlLMBQnPsaV34 “we've done our best to advocate and support our daughters, we've had to make tough decisions, lean on mental health services to keep them safe, preserve our own safety. And sometimes these choices are sorely inadequate. Sometimes our resources run out before we can get our loved ones into a situation where they can take advantage of supports and services and start to forge their own lives. Sometimes group homes are a good option, and ideally should be a good option for more. But again, we are dependent, or they're dependent on funding and disconnects between providers and often not able to implement and implement enough surrounding support services that would enable individuals to be more successful learn from the group home living situation and move into a less restrictive environment. So, you know, I think my point is that I think they can work. I think there's a lot of challenges. So Brooke, why don't you go ahead and give me a little bit of your background and talk about your experience. Okay, I know this is part two. So if you watch part one, you can hear a lot. I mean, we could reshare that somewhere. So speaking on that I was diagnosed at 18 with TSC. And I had kidney tumors, basically was dealing with a lot of kidney stones, urinary tract infections, that type of thing at the age of like, 17 ish, probably a little bit after my hormones got to use, you know, used to my body, and were like, Hey, we're not gonna let you do life anymore. I was a cheerleader I skater, singer traveling singing group for a Christian. It was called Youth for Christ, stuff like that. I was very, very involved in a lot of things. So for me to be told at 18 I be in the wheelchair by the age of 30 was very detrimental to my mental health. Being told I could never have children. If I did, my body would fight the fetus off. So I just gave up and like, honestly, I was in Darvocet in the basement, and like watch real world and just said My mind was just junk. Because I just like might as well live vicariously through someone else. Since I can't leave my basement. Moving on, I ended up getting pregnant have a daughter with Tuberous sclerosis complex your directory, I was told that basically, you should have an abortion because your body will fight the fetus off anyways. But for me, I chose not to everybody has a different view on that. And that's fine. But that's something I wanted to have to live with. And then having her she was good for about the first four months. And you know, it's just, it's a whole long story when you have to see and I could break down every single little bit of our lives. But I then was pregnant for my son after she started seizing and went to Canada for infantile spasms. I mean, if you I know we've all been through a different differently. We're on a different boat, Jill has different stories with her children that I'll have with my daughter. But listen, that boat was sinking” They also discuss alternative medicine options that they each have utilized and for which they feel strongly can be useful for those living with TSC and other chronic life-threatening conditions. Long term polypharmacy issues are incredible and waiting for pharmaceutical formulations of cannabis is not an option. We are witnessing suffering and mental/physical health issues that can be addressed in part through other modalities. Jill is a strong advocate for affordable access to cannabinoid medicine for those living with TSC and others who are dependent on funding and disconnects between providers and often not able to implement and implement enough surrounding support services that would enable individuals to be more successful learn from the group home living situation and move into a less restrictive environment. So, you know, I think my point is that I think they can work. I think there's a lot of challenges. So Brooke, why don't you go ahead and give me a little bit of your background and talk about your experience. Okay, I know this is part two. So if you watch part one, you can hear a lot. I mean, we could reshare that somewhere. So speaking on that I was diagnosed at 18 with TSC. And I had kidney tumors, basically was dealing with a lot of kidney stones, urinary tract infections, that type of thing at the age of like, 17 ish, probably a little bit after my hormones got to use, you know, used to my body, and were like, Hey, we're not gonna let you do life anymore. I was a cheerleader I skater, singer traveling singing group for a Christian. It was called Youth for Christ, stuff like that. I was very, very involved in a lot of things. So for me to be told at 18 I be in the wheelchair by the age of 30 was very detrimental to my mental health. Being told I could never have children. If I did, my body would fight the fetus off. So I just gave up and like, honestly, I was in Darvocet in the basement, and like watch real world and just said My mind was just junk. Because I just like might as well live vicariously through someone else. Since I can't leave my basement. Moving on, I ended up getting pregnant have a daughter with Tuberous sclerosis complex your directory, I was told that basically, you should have an abortion because your body will fight the fetus off anyways. But for me, I chose not to everybody has a different view on that. And that's fine. But that's something I wanted to have to live with. And then having her she was good for about the first four months. And you know, it's just, it's a whole long story when you have to see and I could break down every single little bit of our lives. But I then was pregnant for my son after she started seizing and went to Canada for infantile spasms. I mean, if you I know we've all been through a different differently. We're on a different boat, Jill has different stories with her children that I'll have with my daughter. But listen, that boat was sinking..." Brooke’s links: https://www.instagram.com/_b3mor34u_/ YouTube: https://www.youtube.com/channel/UCdP1KUfMBhO2l4bDHaciM0w Jill: https://linktr.ee/jillwoodworth

They also discuss alternative medicine options that they each have utilized and for which they feel strongly can be useful for those living with TSC and other chronic life-threatening conditions. Long term polypharmacy issues are incredible and waiting for pharmaceutical formulations of cannabis is not an option. We are witnessing suffering and mental/physical health issues that can be addressed in part through other modalities. Jill is a strong advocate for affordable access to cannabinoid medicine for those living with TSC.Brooke has had huge success utilizing Thrive-THRIVE Experience is an 8-week premium lifestyle plan, to help individuals experience and reach peak physical and mental levels. Brooke is a mom, TSC advocate, Adult Regional Coordinator for the TS Alliance, and also Hairstylist. Check out her Facebook here: https://www.facebook.com/brookey21Jill Woodworth. (Human being. Writer,) Podcaster. Chronicler of being human. Parent of 5, 3 of whom have Tuberous Sclerosis Complex, each with varying effect Committed to giving voice to the underdog, the oppressed, those for whom being heard is crucial to survival and quality of life. If you are part of my world, which is everyone willing to take an honest look at their lives and discuss how the direst and desperate of situations often led to the most understanding and personal growth and compassion plus an inner motivation to work toward social good, then join my network! Let me know if you have a story to tell or if you need help to connect with this growing market. Contact me on linked in or drop me a note on https://tsctalks.com/ or pjlacy6@gmail.com. Offering podcast sponsorship, advertising, consulting, research, speaking and more.Here is an excerpt from the transcript, click link for full transcript: https://otter.ai/u/Y6Z9mem7vmGFueMlLMBQnPsaV34 “we've done our best to advocate and support our daughters, we've had to make tough decisions, lean on mental health services to keep them safe, preserve our own safety. And sometimes these choices are sorely inadequate. Sometimes our resources run out before we can get our loved ones into a situation where they can take advantage of supports and services and start to forge their own lives. Sometimes group homes are a good option, and ideally should be a good option for more. But again, we are dependent, or they're dependent on funding and disconnects between providers and often not able to implement and implement enough surrounding support services that would enable individuals to be more successful learn from the group home living situation and move into a less restrictive environment. So, you know, I think my point is that I think they can work. I think there's a lot of challenges. So Brooke, why don't you go ahead and give me a little bit of your background and talk about your experience.Okay, I know this is part two. So if you watch part one, you can hear a lot. I mean, we could reshare that somewhere. So speaking on that I was diagnosed at 18 with TSC. And I had kidney tumors, basically was dealing with a lot of kidney stones, urinary tract infections, that type of thing at the age of like, 17 ish, probably a little bit after my hormones got to use, you know, used to my body, and were like, Hey, we're not gonna let you do life anymore. I was a cheerleader I skater, singer traveling singing group for a Christian. It was called Youth for Christ, stuff like that. I was very, very involved in a lot of things. So for me to be told at 18 I be in the wheelchair by the age of 30 was very detrimental to my mental health. Being told I could never have children. If I did, my body would fight the fetus off. So I just gave up and like, honestly, I was in Darvocet in the basement, and like watch real world and just said My mind was just junk. Because I just like might as well live vicariously through someone else. Since I can't leave my basement. Moving on, I ended up getting pregnant have a daughter with Tuberous sclerosis complex your directory, I was told that basically, you should have an abortion because your body will fight the fetus off anyways. But for me, I chose not to everybody has a different view on that. And that's fine. But that's something I wanted to have to live with. And then having her she was good for about the first four months. And you know, it's just, it's a whole long story when you have to see and I could break down every single little bit of our lives. But I then was pregnant for my son after she started seizing and went to Canada for infantile spasms. I mean, if you I know we've all been through a different differently. We're on a different boat, Jill has different stories with her children that I'll have with my daughter. But listen, that boat was sinking”They also discuss alternative medicine options that they each have utilized and for which they feel strongly can be useful for those living with TSC and other chronic life-threatening conditions. Long term polypharmacy issues are incredible and waiting for pharmaceutical formulations of cannabis is not an option. We are witnessing suffering and mental/physical health issues that can be addressed in part through other modalities. Jill is a strong advocate for affordable access to cannabinoid medicine for those living with TSC and others who are dependent on funding and disconnects between providers and often not able to implement and implement enough surrounding support services that would enable individuals to be more successful learn from the group home living situation and move into a less restrictive environment. So, you know, I think my point is that I think they can work. I think there's a lot of challenges. So Brooke, why don't you go ahead and give me a little bit of your background and talk about your experience.Okay, I know this is part two. So if you watch part one, you can hear a lot. I mean, we could reshare that somewhere. So speaking on that I was diagnosed at 18 with TSC. And I had kidney tumors, basically was dealing with a lot of kidney stones, urinary tract infections, that type of thing at the age of like, 17 ish, probably a little bit after my hormones got to use, you know, used to my body, and were like, Hey, we're not gonna let you do life anymore. I was a cheerleader I skater, singer traveling singing group for a Christian. It was called Youth for Christ, stuff like that. I was very, very involved in a lot of things. So for me to be told at 18 I be in the wheelchair by the age of 30 was very detrimental to my mental health. Being told I could never have children. If I did, my body would fight the fetus off. So I just gave up and like, honestly, I was in Darvocet in the basement, and like watch real world and just said My mind was just junk. Because I just like might as well live vicariously through someone else. Since I can't leave my basement. Moving on, I ended up getting pregnant have a daughter with Tuberous sclerosis complex your directory, I was told that basically, you should have an abortion because your body will fight the fetus off anyways. But for me, I chose not to everybody has a different view on that. And that's fine. But that's something I wanted to have to live with. And then having her she was good for about the first four months. And you know, it's just, it's a whole long story when you have to see and I could break down every single little bit of our lives. But I then was pregnant for my son after she started seizing and went to Canada for infantile spasms. I mean, if you I know we've all been through a different differently. We're on a different boat, Jill has different stories with her children that I'll have with my daughter. But listen, that boat was sinking..."Brooke’s links: https://www.instagram.com/_b3mor34u_/ YouTube: https://www.youtube.com/channel/UCdP1KUfMBhO2l4bDHaciM0w Jill: https://linktr.ee/jillwoodworth

Hardy Cyclamen, also known as "Persian Violet or Sowbread" is a striking winter blooming plant for either indoors or for an outdoor gardens. Today I am going to tell you about the species Cyclamen coum. Listen to learn more and how it can fit into your garden! You can find cyclamen to buy online from Eden Brother's, Michigan Bulbs and more. Visit to spokengarden.com/180 ICYMI, Our new book's release date is March 9th. Find out more about our book and the two free pre-order bonuses by going to spokengarden.com All rights reserved for Spoken Garden. Music by The Lookers.

Join Anthony and Juliet as they dive into the world of Tuberous Sclerosis, a condition that causes tumours to grow and often lead to seizures throughout a patient's life. Tune in as we dive into the biology, history and future of this complicated condition.

Tuberous breasts is a type of breast deformity that some women don't even know they have. Julie tells her story about discovering later in life that she had tuberous breasts and how she had it corrected with plastic surgery!

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.09.04.282772v1?rss=1 Authors: Schuele, M., Butto, T., Dewi, S., Strand, S., Gerber, S., Endres, K., Schweiger, S., Winter, J. Abstract: Dysregulated mammalian target of rapamycin (mTOR) activity is associated with various neurodevelopmental disorders ranging from idiopathic autism spectrum disorders to monogenic syndromes as for example Tuberous sclerosis complex. Thus, maintaining mTOR activity levels in a physiological range is essential for brain development and functioning. Upon activation, mTOR regulates a variety of cellular processes such as cell growth, autophagy and metabolism. On a molecular level, however, the consequences of mTOR activation are not well understood, especially in the brain. Thus, while it was shown that in cells outside the central nervous system mTORC1 activity is necessary for activating gene transcription of different metabolic pathways this mechanism is ill defined in the brain. By combining mTORC1 inhibition with RNA-sequencing we identified numerous genes of the sterol/cholesterol biosynthesis pathway to be downstream targets of mTORC1 in vitro in primary neurons and in vivo in the developing cerebral cortex of the mouse. Of note, reduced expression of these genes upon mTORC1 inhibition translated into reduced cholesterol levels. We further show that while mTORC1 does not regulate chromatin accessibility or RNA stability of these genes it drives transcription of their DNA. Using a bioinformatics approach, we identified binding sites for the transcription factors SREBP, SP1 and NF-Y to be enriched in the promoters of mTORC1 target genes and confirmed binding of NF-YA by ChIP-qPCR. Altogether, our results indicate that mTORC1 is an important regulator of the expression of sterol/cholesterol biosynthesis genes in the developing brain. Altered expression of these genes may be an important contributing factor in the pathogenesis of neurodevelopmental disorders associated with dysregulated mTOR signaling. Copy rights belong to original authors. Visit the link for more info

Link to bioRxiv paper: http://biorxiv.org/cgi/content/short/2020.08.26.269209v1?rss=1 Authors: Niere, F., Cacheaux, L. P., Klorig, D. C., Taylor, W. C., Smith, T., Godwin, D. W., Raab-Graham, K. F. Abstract: Tuberous sclerosis complex (TS) is a dominant, multisystem disorder with devastating neurological symptoms. Approximately 85% of TS patients suffer from epilepsy over their lifespan and roughly 25-50% of those patients develop Autism Spectrum Disorder (1, 2). Current seizure therapies are effective in some, but not all, and often have significant risk factors associated with their use (1, 3). Thus, there is a critical need for new medication development or drug repositioning. Herein, we leveraged proteomic signatures of epilepsy and ASD, often comorbid in TS, to utilize an in silco approach to identify new drug therapies for TS-related seizures. We have discovered that activation of L-type voltage dependent calcium channels (L-VDCC) by Bay-K8644 (BayK) in a preclinical mouse model of TS curtails seizure frequency. Remarkably, at the molecular level, excess expression of ionotropic, AMPA-subtype glutamate (GluA) receptors is rescued by the administration of BayK. As added proof of BayK working through L-VDCC to regulate GluA levels, we found that increasing expression of alpha2delta2 (2{delta}2), an auxiliary calcium channel subunit that boosts L-VDCC surface expression, similarly lowers the surface expression of dendritic GluA in TS. These BayK-induced molecular and functional alterations may underlie the longer lifespan of TS mice treated with BayK. Copy rights belong to original authors. Visit the link for more info

Lisa Carlton, PhD, understands rare childhood diseases both professionally and personally. She was already a scientist specializing in rare diseases when her daughter was diagnosed with one: tuberous sclerosis. As VP of Global Regulatory Affairs for a biotech drug developer she is involved in development of treatments for other rare diseases too. This makes her an ideal person to co-chair an industry-patient-advocacy group called the Working Group on Regulatory Science, a part of the EveryLife Foundation for Rare Disorders that seeks to advance the development of treatment and diagnostic opportunities for rare disease patients through science-driven public policy.Tuberous sclerosis, a rare genetic disorder, affects one in every 6,000 newborns in the United States. It is a disorder that causes benign growth in almost any tissue; it’s of particular concern when it occurs in the brain, lungs or kidneys. Some people who have tuberous sclerosis may have learning problems or difficult-to-control seizures. Her daughter—one of a pair of twins—was diagnosed in utero. She’s doing well, although the speech and language disorders associated with the condition have made it hard to access the curriculum in school. Dr. Carlton talks about the challenges of developing new treatments for rare diseases and the approaches taken to try to overcome them. She also talks about her daughter’s disease, and how families can bring their best to their journey as they adapt to support their child. Based on her experience as a parent and advocate—as well as her experience in the industry—she has this advice for families: “Take a breath.” Drug development is slow, especially in rare diseases. “You are in for a marathon of supporting your child.” When possible, connect with other parents and advocacy groups. Or build your own tribe—work, friends, family, etc. “You have to be healthy and rested enough to do this. You have to be at your best.” She’s often asked how she manages to keep going. “I don’t know how I wouldn’t do it. You’ve been given this gift of a special child. Now it’s time to find your tribe and push ahead.”Her advice for a biotech company considering launch of a clinical trial for a rare disease? Nobody knows more about a patient’s journey, the patient’s experience, than the patient—or a parent or caregiver. “Just listen to what patients are saying. You are going to learn a lot.”Lisa Carlton, PhD, has previously worked in regulatory roles at the National Institutes of Health, Otsuka Pharmaceuticals and International Partnership for Microbicides. She is currently serving as Vice President of Global Regulatory Affairs at REGENXBIO, a gene therapy-focused biotech company with headquarters in Rockville, MD. Lisa received her PhD in Pharmaceutics and MS in Medicinal Chemistry from the University of North Carolina in Chapel Hill and a BS in Biochemistry from North Carolina State University.

I had the extreme honor of interviewing Brooke Alisha, TSC Advocate, Parent, Adult Living with TSC, Adult Regional Coordinator for Adult Support Region 5, LeVel Promotor. She has quite a story of challenges and hurdles, traumatic events, and heartache but also MUCH resilience, inner fortitude, a heart of love and hope. Diagnosed with Tuberous Sclerosis Complex (TSC is a condition that causes benign tumors to grow in different organs of the body) at the age of 18, Brooke gives us a picture, “I was very active. I was a cheerleader. I was in a precision ice skating team. I was very active in my church. I was in a traveling singing group. We had so many things. So for me, my life was.. always on the go and involved in something, a part of something and suddenly, I was on Darvocet and it literally brought me to my knees. I was in the middle of hair school. I had just started after I graduated. And I missed three months. I had to take medical leave because I couldn't get up. I was afraid to hurt my kidneys and the stent and that whole thing and then on top of it being on that medication. That was the start of everything really for me.” She talks of the utter devastation that followed post-diagnosis, “you looked at Google, you know, or Web MD or something. And it was like, awful. And I'm like, how can my life go from this to this? How am I supposed to (go on) and that it just made it worse”? After moving in with her boyfriend and withdrawing, there was more challenging news, “And so when I went to go see about the cysts on my ovaries, I actually found out I was two months pregnant with my daughter. So I did have this on my ovaries, but they're like, um, you're pregnant, and we're going to put you on Prozac because we don't know if you'll handle the baby or if you'll keep it or anything” To make things more challenging, she now had doctors weighing in, “She told me she advised an abortion and I wasn't okay with that. It wasn't how I grew up personally. And I thought, there's a reason I'm having her. So, I'm going to just have her and I'm going to get through it. And if I lose her, then it's meant to be I had to live with myself personally.” Her baby daughter started having infantile spasms at 4 months and diagnosed with TSC. She gives us a look at the inner experience of these circumstances and more challenges, “I guess I was so young, you know, I was scared to death of what was to come and she had just got diagnosed with Tuberous sclerosis complex, she has the seizures and they started to get more intense. And they were up to about 10 to 12 times a day, we started to have to digest that. Then I found out I was pregnant with my son, so it was a lot.” Listening to Brooke and reflecting on my own experience, “I can relate to some of that, you know, I was getting pregnant and finding out at while I had other kids with TSC, and you know, I think back on those times that I don't remember the details. It's like talking to you, I just kind of remembered that craziness. You know, it was always like kind of living through at the moment and getting through the day and, you know, putting out brush fires one thing after the other, so I don't know if it was like that for you, but I didn't have a lot of like time to really reflect on what was happening and how I was. It was just so much action-reaction.” Brooke shares more of her experience with her daughter, “she had brain surgery, a lot of people know the intensity of that, it's a six-month thing. To get tested and all of this stuff done and, you know, it kind of all becomes a blur and then you spend about a month in the hospital because they’ve got to do two surgeries. And we did get social security disability income for that month that I was off, but it was exhausting. I had a son at home. She wasn't going to the bathroom by herself. They told me about the social regression, they removed her right frontal lobe of the brain, all the executive decision making” She also discusses waking up to an understanding of TAND, Tuberous Sclerosis Associated Neuropsychiatric Condition, both personally and with her daughter. 80-90% of individuals with a diagnosis of TSC will have some degree of TAND, manifesting in a myriad of different ways, encompassing the entire mental health diagnostic umbrella! “And you just fix it and you figure it out. But you know, for the longest time, everything would defeat me. Because, you know, for me, 80% of people with TSC have a mental illness, TAND is something I didn't even know what it was, and I feel like it's not talked about enough. It's not expressed enough. It's not shown to families like okay your child might have TSC but look out for TAND, they need to be pre warned for this because you have no idea it will come hit you like a bus.” Here’s an excruciating narrative outlining a TAND incident, “It seems like with these medications, so for her anti-psychotics make her psychotic. And we were like afraid to drive home. We were hoping a cop saw us and said let me take her from you. I have never been that mom that wishes anything on my children ever, ever ever in my life. I know I talked previously about not dreaming of being that mother or that Betty Crocker person, but I definitely am a person that when I have something, I go all out and I go all in. If I'm going to take care of something, I'm going to take care of it the way it needs to be taken care of. How do you take care of that? I didn't know how to take care of that situation. That moment. everybody's lives are in danger. My son was being choked from the back. It was very traumatic.” So clearly, Brooke is a survivor, with resilience like no other. She narrates example after example of circumstances that are unimaginable and yet she continues to rise. “And you know, for the longest time I lived as that victim like …victim, victim victim and I decided I wasn't going to live there anymore. And once you decide that you must be at a really big place where you're like, you know, I'm ready. Because you're going to get tested and you're going to get tried, and it's going to try to break you, but you have to just rise up really. But you have to be at that place, and I can't tell you how to get there other than feeding your mind with happy things and good things. I started working out. So I started to try to do things that would help my mental health I went seek counseling. I just I started to really like being a hairstylist too, you’re also a therapist. So, you need to have an out. I needed a healthy out for sure.” Brooke uses premium nutrition, and continues to talk with her doctors, and this system has worked for her, “a premium lifestyle plan to help individuals experience and reach peak physical and mental levels” and has great results. She continues to promote this product as a side business to supplement her work as a hairstylist/beautician” and focuses on helping people feel beautiful inside and out. Having the opportunity to give her clients a little bit more in terms of offering a product she has had success with and believes in has been a wonderful way of infusing her work with her own lived experience and positive energy. This episode is chock full of inspiration and hope despite multiple and ongoing challenges. I’ll leave you with this final quote, and encourage you to listen and share this incredible testimony to the power of the human spirit, faith and deep passion and love for her family, friends, committed to doing her best to push the needle of knowledge, education, and support for those living with TSC forward daily! “I mean, there's been lots of like little miracles, you know, like as you go on, like, Oh, she can read now. And for me, my tumors went from four and a half centimeters down to nothing. So yes, so that's been amazing, but just the miracle of being 36 now and being told at 30 I'd be in a wheelchair like that's a miracle. And when people see me and do that stuff, I want them to know that it's never too late. You still have a life to live!” Bravo Brooke! Brooke’s links: Instagram: https://www.instagram.com/_brookealisha_/ Facebook: https://www.facebook.com/brookey21 Twitter: @BrookeAlisha Adult Regional Coordinator-FB group: https://www.facebook.com/TsAllianceOfOhio/ TS Alliance Regional Coordinators: https://www.tsalliance.org/individuals-families/adults/adult-regional-coordinators/ Brook’s hair services: https://www.facebook.com/brookesbliss13hair/ https://www.facebook.com/thecolourpalettesalon/ Thrive/Le-Vel: https://brooke2330.le-vel.com/

I had the extreme honor of interviewing Brooke Alisha, TSC Advocate, Parent, Adult Living with TSC, Adult Regional Coordinator for Adult Support Region 5, LeVel Promotor. She has quite a story of challenges and hurdles, traumatic events, and heartache but also MUCH resilience, inner fortitude, a heart of love and hope.Diagnosed with Tuberous Sclerosis Complex (TSC is a condition that causes benign tumors to grow in different organs of the body) at the age of 18, Brooke gives us a picture, “I was very active. I was a cheerleader. I was in a precision ice skating team. I was very active in my church. I was in a traveling singing group. We had so many things. So for me, my life was.. always on the go and involved in something, a part of something and suddenly, I was on Darvocet and it literally brought me to my knees. I was in the middle of hair school. I had just started after I graduated. And I missed three months. I had to take medical leave because I couldn't get up. I was afraid to hurt my kidneys and the stent and that whole thing and then on top of it being on that medication. That was the start of everything really for me.”She talks of the utter devastation that followed post-diagnosis, “you looked at Google, you know, or Web MD or something. And it was like, awful. And I'm like, how can my life go from this to this? How am I supposed to (go on) and that it just made it worse”?After moving in with her boyfriend and withdrawing, there was more challenging news, “And so when I went to go see about the cysts on my ovaries, I actually found out I was two months pregnant with my daughter. So I did have this on my ovaries, but they're like, um, you're pregnant, and we're going to put you on Prozac because we don't know if you'll handle the baby or if you'll keep it or anything”To make things more challenging, she now had doctors weighing in, “She told me she advised an abortion and I wasn't okay with that. It wasn't how I grew up personally. And I thought, there's a reason I'm having her. So, I'm going to just have her and I'm going to get through it. And if I lose her, then it's meant to be I had to live with myself personally.” Her baby daughter started having infantile spasms at 4 months and diagnosed with TSC. She gives us a look at the inner experience of these circumstances and more challenges, “I guess I was so young, you know, I was scared to death of what was to come and she had just got diagnosed with Tuberous sclerosis complex, she has the seizures and they started to get more intense. And they were up to about 10 to 12 times a day, we started to have to digest that. Then I found out I was pregnant with my son, so it was a lot.”Listening to Brooke and reflecting on my own experience, “I can relate to some of that, you know, I was getting pregnant and finding out at while I had other kids with TSC, and you know, I think back on those times that I don't remember the details. It's like talking to you, I just kind of remembered that craziness. You know, it was always like kind of living through at the moment and getting through the day and, you know, putting out brush fires one thing after the other, so I don't know if it was like that for you, but I didn't have a lot of like time to really reflect on what was happening and how I was. It was just so much action-reaction.”Brooke shares more of her experience with her daughter, “she had brain surgery, a lot of people know the intensity of that, it's a six-month thing. To get tested and all of this stuff done and, you know, it kind of all becomes a blur and then you spend about a month in the hospital because they’ve got to do two surgeries. And we did get social security disability income for that month that I was off, but it was exhausting. I had a son at home. She wasn't going to the bathroom by herself. They told me about the social regression, they removed her right frontal lobe of the brain, all the executive decision making”She also discusses waking up to an understanding of TAND, Tuberous Sclerosis Associated Neuropsychiatric Condition, both personally and with her daughter. 80-90% of individuals with a diagnosis of TSC will have some degree of TAND, manifesting in a myriad of different ways, encompassing the entire mental health diagnostic umbrella!“And you just fix it and you figure it out. But you know, for the longest time, everything would defeat me. Because, you know, for me, 80% of people with TSC have a mental illness, TAND is something I didn't even know what it was, and I feel like it's not talked about enough. It's not expressed enough. It's not shown to families like okay your child might have TSC but look out for TAND, they need to be pre warned for this because you have no idea it will come hit you like a bus.”Here’s an excruciating narrative outlining a TAND incident, “It seems like with these medications, so for her anti-psychotics make her psychotic. And we were like afraid to drive home. We were hoping a cop saw us and said let me take her from you. I have never been that mom that wishes anything on my children ever, ever ever in my life. I know I talked previously about not dreaming of being that mother or that Betty Crocker person, but I definitely am a person that when I have something, I go all out and I go all in. If I'm going to take care of something, I'm going to take care of it the way it needs to be taken care of. How do you take care of that? I didn't know how to take care of that situation. That moment. everybody's lives are in danger. My son was being choked from the back. It was very traumatic.”So clearly, Brooke is a survivor, with resilience like no other. She narrates example after example of circumstances that are unimaginable and yet she continues to rise. “And you know, for the longest time I lived as that victim like …victim, victim victim and I decided I wasn't going to live there anymore. And once you decide that you must be at a really big place where you're like, you know, I'm ready. Because you're going to get tested and you're going to get tried, and it's going to try to break you, but you have to just rise up really. But you have to be at that place, and I can't tell you how to get there other than feeding your mind with happy things and good things. I started working out. So I started to try to do things that would help my mental health I went seek counseling. I just I started to really like being a hairstylist too, you’re also a therapist. So, you need to have an out. I needed a healthy out for sure.”Brooke uses premium nutrition, and continues to talk with her doctors, and this system has worked for her, “a premium lifestyle plan to help individuals experience and reach peak physical and mental levels” and has great results. She continues to promote this product as a side business to supplement her work as a hairstylist/beautician” and focuses on helping people feel beautiful inside and out. Having the opportunity to give her clients a little bit more in terms of offering a product she has had success with and believes in has been a wonderful way of infusing her work with her own lived experience and positive energy.This episode is chock full of inspiration and hope despite multiple and ongoing challenges. I’ll leave you with this final quote, and encourage you to listen and share this incredible testimony to the power of the human spirit, faith and deep passion and love for her family, friends, committed to doing her best to push the needle of knowledge, education, and support for those living with TSC forward daily!“I mean, there's been lots of like little miracles, you know, like as you go on, like, Oh, she can read now. And for me, my tumors went from four and a half centimeters down to nothing. So yes, so that's been amazing, but just the miracle of being 36 now and being told at 30 I'd be in a wheelchair like that's a miracle. And when people see me and do that stuff, I want them to know that it's never too late. You still have a life to live!” Bravo Brooke!Brooke’s links:Instagram: https://www.instagram.com/_brookealisha_/ Facebook: https://www.facebook.com/brookey21Twitter: @BrookeAlisha Adult Regional Coordinator-FB group: https://www.facebook.com/TsAllianceOfOhio/TS Alliance Regional Coordinators: https://www.tsalliance.org/individuals-families/adults/adult-regional-coordinators/Brook’s hair services: https://www.facebook.com/brookesbliss13hair/https://www.facebook.com/thecolourpalettesalon/Thrive/Le-Vel: https://brooke2330.le-vel.com/

In this episode I cover tuberous sclerosis.If you want to follow along with written notes on tuberous sclerosis go to https://zerotofinals.com/medicine/neurology/tuberoussclerosis/ or the neurology section in the Zero to Finals medicine book.This episode covers pathophysiology, presentation, diagnosis and management of tuberous sclerosis.The audio in the episode was expertly edited by Harry Watchman.

Wendy Andersen shares powerful lessons and tips she learned about redefining normal after her son was diagnosed with tuberous sclerosis and autism. Wendy Andersen: Changing Expectations For A Happy LifeBioWendy Andersen is an accomplished author, speaker, coach, and mentor. She is a wife and the mother to three amazing children. Having a special needs child has taught her the critical importance of setting up her world to fit the current expectations of her family over those delivered by the expectations of others. For most of us, life does not go as planned. It certainly didn't for Wendy and her husband when, in less than 36 hours, their seemingly normal life was turned upside down when their oldest son Dexter was diagnosed with tuberous sclerosis complex epilepsy and then four years later with autism. Her experience created a deep desire to redefine what normal looks like in her own life and instilled in her a passion to help others redefine normal for themselves. She is passionate about spreading her message and encouraging families to break free of external expectations and instead find the balance in life. The Day Everything ChangedWendy Andersen had a relatively normal life before her son Dexter's diagnosis. She had been married to her husband for eight years before having Dexter. They loved being new parents. Then one day when Dexter was six months old, everything changed. Wendy was working and her husband was in school when Wendy got a call from her mother-in-law telling her that she needed to come home right away. Something was wrong with Dexter. Wendy got home and Dexter was napping, but when he woke up she saw exactly what her mother-in-law was talking about. Dexter's head would bob up and down and his left arm would straighten. Wendy knew right away that he was having seizures. Tuberous Sclerosis DiagnosisWendy called the pediatrician and they took Dexter to the office and were then sent onto the hospital. Within 36 hours, they had received a diagnosis. Dexter was having infantile spasms, a very debilitating type of seizure, as a result of tuberous sclerosis. Wendy and her husband didn't even know what that meant. Tuberous sclerosis is a very rare condition, with 1 in 6,000 children being diagnosed each year. Wendy says that she and her husband didn't allow themselves time to mope about the diagnosis though. They went right into survival mode, trying to find any and all information about Dexter's condition. The timing of his diagnosis couldn't have been better. Two months prior, the FDA had approved a new drug that could treat his condition and stop the seizures in just one dose. What is TSC?Tuberous sclerosis, or TSC, is a condition that causes non-cancerous tumors to develop throughout the body. Dexter had these growths in his brain, which were causing the seizures. Dexter also has them in his heart, called rhabdomyomas. Fortunately, the ones in his heart were not causing problems. In fact, they grow as a child, then shrink and go away. When Dexter was two and a half they discovered another type of tumor in his brain, called a sega. A sega will grow if it is not treated, so Wendy and her husband had two options: they could try a new medication and see if that would shrink the tumor, or they could have Dexter undergo brain surgery. If they didn't remove all of the tumor during surgery, the sega would grow back and they would have to try the medication anyway. So they opted to try the medication first. Within six months, the tumor had shrunk by half. Autism Diagnosis and Choosing to Stay PositiveDexter continued to grow and Wendy started to notice some signs of autism, but he did not display all the common symptoms. He had some delays in his speech, despite being able to understand what was said to him. Wendy worked with him on sign language, and he was able to recognize all of the letters of the alphabet at a young age. He struggled with sensitivity to noise, a common...

Dr. Alison Christy speaks with Dr. Jurriaan Peters of Boston Children’s Hospital about their article published in JCN "The Evolution of Subclinical Seizures in Children With Tuberous Sclerosis Complex". Then Dr. Christine Park of Brooke Army Medical Center in San Antonio gives an overview of the disease. Finally, Dr. Alison Christy interviews Dr. Derek Bauer of the University of Virginia on their personal connection with the disease as well as their career path.

It's time for the weekly episode of Let's Talk Autism! Today, Shannon has an interview with Jill Woodworth, Host of TSCTalks! Don't miss it! TscTalks.com Like Autism Live on Facebook at http://facebook.com/autismlive Sign up for Autism Live’s free newsletter at: http://www.autism-live.com/join-our-email-list.aspx Autism Live is a production of the Center for Autism and Related Disorders (CARD), headquartered in Woodland Hills, California, and with offices throughout, the United States and around the globe. For more information on therapy for autism and other related disorders, visit the CARD website at http://centerforautism.com

This episode covers the basics of tuberous breasts and gynaecomastia

Breasts come in all shapes and sizes, but from a very young age, Madison Krista knew something was "off" with hers.  After confiding in her mother, they decided to see a doctor and discovered she has a condition called tuberous, or tubular breast deformity (TBD). Starting at age 17, she underwent four surgeries to correct this condition.  Hear how her surgeries transformed her body, and eventually her mind: after years of hiding this condition she finally went public on her YouTube channel and now is an inspiration to women worldwide.

Lane moves into his long over due K-Pop phase. Ryan discusses how grief shaped his view of the world & his career. Happy Autism Awareness Month! Tuberous Sclerosis Alliance is dedicated to finding a cure for tuberous sclerosis complex, while improving the lives of those affected. Learn more: https://www.tsalliance.org/

In this episode of the PRS Global Open Keynotes Podcast, American plastic surgeons Maurice Nahabedian and Kenneth Fan discuss the controversial topic of managing tuberous or constricted breast deformity with your host, Australian plastic surgeon Damian Marucci, MD. The PRS Global Open article discussed is available to read for free on PRSGlobalOpen.com: “Central Mound Mastopexy for the Correction of Tuberous/Tubular Breast Deformity” by Olivia Abbate, Kenneth Fan and Maurice Nahabedian. Read Here: http://bit.ly/TuberousBreast Special guests Kenneth Fan, MD and Maurice Nahabedian, MD are plastic surgeons from Washington, DC.   #PRSGlobalOpen #KeynotesPodcast #PlasticSurgery  

In this episode of the PRS Global Open Keynotes Podcast, American plastic surgeons Maurice Nahabedian and Kenneth Fan discuss the controversial topic of managing tuberous or constricted breast deformity with your host, Australian plastic surgeon Damian Marucci, MD. The PRS Global Open article discussed is available to read for free on PRSGlobalOpen.com: “Central Mound Mastopexy for the Correction of Tuberous/Tubular Breast Deformity” by Olivia Abbate, Kenneth Fan and Maurice Nahabedian. Read Here: http://bit.ly/TuberousBreast Special guests Kenneth Fan, MD and Maurice Nahabedian, MD are plastic surgeons from Washington, DC. #PRSGlobalOpen #KeynotesPodcast #PlasticSurgery

This week's topics include how breast implants look at 4 weeks postop, tuberous breast deformity and a hypertrophic scar on the shoulder. #AskJJ

In the Journal of Child Neurology's inaugural podcast, resident and fellow Alison Christy, MD, PhD, has a conversation with author Kandice Varcin, PhD, about her article "Visual Evoked Potentials as a Readout of Cortical Function in Infants With Tuberous Sclerosis Complex," in the February 2016 issue of the Journal of Child Neurology. The podcast also delves into retinoblastoma, balancing patient care and medical research, and a case report on Guillain-Barre syndrome and HLH. Articles discussed in this podcast: Visual Evoked Potentials as a Readout of Cortical Function in Infants With Tuberous Sclerosis Complex Retinoblastoma Epstein-Barr Virus-Associated Hemophagocytic Lymphohistiocytosis and Guillain-Barre Syndrome in a 16-Month-Old Child

A popular question to the World Radio Gardening team is ‘what’s the difference between fibrous and tuberous begonias?’ And how do you look after them? Ken Crowther and Geoff Hodge discuss this and other questions from the World Radio Gardening post bag.

Florida’s Native and Non-Native Sword Fernsby: Lara Miller, Natural Resource AgentJennifer Jones, Brooker Creek Preserve InternFlorida is home to many native fern species, including the Boston fern (Nephrolepis exalta) and giant sword fern (Nephrolepis biserrata), which can be difficult to distinguish from non-native ferns that grow in the same environments, such as Tuberous sword fern (Nephrolepis cordifolia) and the Asian sword fern (Nephrolepis multiflora). Each of these are often still sold in the nursery and landscape trade, and often confused or misidentified as the native species of fern. The NativesThe native Boston fern (Figure 1) has erect fronds that can reach up to 3 feet long and 6 inches wide. The round sori (clusters of spore-bearing organs) are in two rows near the underside of the pinnae (leaflet). It is commonly found in humid forests and swamps of Florida, although is native to other regions such as South and Central America. It is grown outdoors as well as indoors for ornamental value; their high humidity tolerance makes them a good candidate for both indoor and outdoor use. Figure 1. Native Boston FernThe native giant sword fern (Figure 2) has fronds that extend several feet and can be found in moist to wet soil. The species name comes from tiny teeth that alternate with larger teeth along the edge of each lance-like pinna. Underneath each pinna, round sori occur evenly around the entire edge. The petioles (stalk) are sparse to moderate with reddish to light brown hair-like scales. Tubers are never present in this species.Figure 2. Native Giant Sword FernThe Non-NativesSince the non-native ferns can be invasive and disruptive to native plant communities, it is very beneficial to be able to recognize the differences between them. The Asian sword fern and Tuberous sword fern are sold under various names, often ones of native origin. Tuberous sword fern (Figure 3) sometimes produces tubers, and it is the only one of the four ferns mentioned that is capable of doing so. The presence of these tubers alone is a distinct way to identify the species. The presence of scales on the upper side of the rachis (stem) that is distinctively darker at the point of attachment is another way to distinguish the tuberous sword fern from the other three species. Native sword fern has scales on the upper side and are homogenously colored. Figure 3. Non-Native Tuberous Sword FernTuberous sword fern can be distinguished from Asian sword fern (Figure 4) by its glabrous central vein of the pinnae contrasted by the presence of short stiff hairs that occur on the central vein of the pinnae of Asian and giant sword fern. The most distinguishing characteristic for Asian sword fern is a dense covering of dark brown, pressed scales with pale margins on mature petioles. Petiole scales of tuberous sword fern are dense, spreading, and pale brown, while those of native sword fern are sparse to moderate, reddish-brown, of a single color or slightly darkened at the point of attachment and have expanded bases with small hairs. Figure 4. Non-Native Asian Sword FernResources:http://www.floridata.com/ref/n/neph_exa.cfmhttp://edis.ifas.ufl.edu/uw217http://edis.ifas.ufl.edu/pdffiles/AG/AG12000.pdf

Guest: John Bissler, MD Host: Gary Kohn, MD Dr. John Bissler, professor of pediatrics at the Cincinnati Children's Hospital Medical Center, in the division of nephrology and hypertension, discusses tuberous sclerosis, its prevalence, and the potential for non-surgical treatment with host Dr. Gary Kohn.