Podcast appearances and mentions of hunter syndrome

Sarah Aswegan, a seasoned biopharma leader and strategic advisor for global rare disease solutions, shares her journey from sales in pharma to her consulting work today. She discusses her experience in transitioning biopharma companies from clinical to commercial success, the evolution of medtech in diagnosing and managing rare diseases, and the collaborative efforts required to bring innovative treatments to market. She also shares insights on current trends in gene therapy, the dynamics of funding, and the importance of data in advancing care for rare disease patients. Guest links: www.saraaswegan.com  Charity supported:  Interested in being a guest on the show or have feedback to share? Email us at theleadingdifference@velentium.com.  PRODUCTION CREDITS Host & Editor: Lindsey Dinneen Producer: Velentium Medical   EPISODE TRANSCRIPT Episode 065 - Sara Aswegan [00:00:00] Lindsey Dinneen: Hi, I'm Lindsey and I'm talking with MedTech industry leaders on how they change lives for a better world. [00:00:09] Diane Bouis: The inventions and technologies are fascinating and so are the people who work with them. [00:00:15] Frank Jaskulke: There was a period of time where I realized, fundamentally, my job was to go hang out with really smart people that are saving lives and then do work that would help them save more lives. [00:00:28] Diane Bouis: I got into the business to save lives and it is incredibly motivating to work with people who are in that same business, saving or improving lives. [00:00:38] Duane Mancini: What better industry than where I get to wake up every day and just save people's lives. [00:00:42] Lindsey Dinneen: These are extraordinary people doing extraordinary work, and this is The Leading Difference. Hello and welcome back to another episode of The Leading Difference podcast. I'm your host Lindsey, and today I'm delighted to welcome to the show, Sarah Aswegan. Sarah is a seasoned biopharma leader helping organizations transition and grow from clinical to commercial success. She prides herself on the success of leading multiple global cross-functional teams and contributing to the success of the franchise areas she oversaw and served. Until recently, she's applied these experiences while serving in a consultancy capacity for many small to midsize biotechs entering or expanding in rare disease. She has also successfully helped organizations to start and scale adjacent spaces to biopharma, and most recently has been serving as a Global Head of Commercial Assets, Brands, and Care Solutions, and has led transformational change at UCP, having been part of the design and scale of the business unit for rare disease. She maintains a strong network among clinicians, access, bioethicists, and patient advocacy globally. Well, thank you so much for joining us today. I'm so excited to speak with you. [00:01:52] Sara Aswegan: Thanks, Lindsey. It's nice to be here. [00:01:54] Lindsey Dinneen: Wonderful. Well, I'd love, if you wouldn't mind, sharing a little bit about yourself and your background and what led you to medtech. [00:02:02] Sara Aswegan: Yeah, thanks Lindsey. You know, I, I started my career ages ago in the pharma side of things, and as my career has grown, so has the exposure across pharmaceuticals, into biotech and including aspects of medtech. As we look at some of the areas I've spent the last 18 years in rare disease, the medtech component is coming in largely around if we think about the diagnosis component and then the management of the different conditions over the lifespan of a child or adult affected by a rare condition. You can see things really evolving. I started my career on the sales side of things. My education is in business and communication, so anyone can learn the science if you have good mentors and people to help you along the way. And I was really, really fortunate to work amongst a team of amazing individuals, both in the US and then now having lived away for about 15 years outside of the US that have helped open my eyes to what can be possible and the differences by markets. And as I mentioned, I spent the last 18 years in the rare disease space really helping companies of all sizes build out and scale their teams, bringing in new assets and bringing solutions to the field of rare disease. And it's something I'm very passionate about. [00:03:06] Lindsey Dinneen: Yeah. Well, thank you for sharing a little bit about that. So I'm curious, that's a very specific niche and I would love to understand how you arrived at that and how you realized, "Oh, this is what I'm meant to be doing." [00:03:19] Sara Aswegan: Yeah. So I made a move geographically and company-wise to a small firm at the time. We were just a very small team. We called it the bootstrapping team at Shire Human Genetic Therapies, and I moved from the Chicago area to Boston, and that was my first really exposure to rare diseases. And, it's a completely different field and it continues to evolve even to this day. But the closeness and proximity you have to patients and their families and those with unmet need. And I have, you know, a couple of close friends as well as a family member that's been affected by a rare disease. So as you're seeking care and support for them, it's not always about the medications. It's about that total person and thinking really holistically about the individual and their care teams that are impacted by those conditions. So the external community we were serving really drove me and introduced me to something that I've stayed with, and it brings great passion to try to find ways to support individuals in our western society, but also looking at low middle income countries and helping facilitate diagnosis to treatment to, again, that whole supportive care and largely from the internal teams within the organizations I've worked with has just is been tremendously rewarding and also equally challenging. It's beautiful to see progress. I mentioned diagnosis and. One of the areas I worked in initially was in the lysosomal storage disease area. And it's the age-old question on diagnosis. Do you facilitate newborn screening, for example, so when your child is born, you have a heel prick done and you can do a series of tests depending on the state you live in, and in some countries in Europe it's also provided. But if there's not a therapy, is it okay to do that type of diagnosis support. And so that challenge, you know, in seeing the policy evolve on a state by state basis. When I began in the rare disease space and MPS Type Two Hunter Syndrome, it's a condition that affects mostly boys and a very small part of our population. We knew we could do newborn screening and there was a therapy available, but it wasn't only realized until a few years ago to introduce newborn screening to help those families at the point of birth to know if their child was affected, and therefore start a different trajectory on how they planned for care for them and plan for if there was a medication or other supportive tools and resources available for them. So it's been extremely dynamic to see how things have evolved. And then now as you see medical and pharma medical technology advance as well into gene therapies. You're seeing news about gene therapy and it's a one time treatment and then the individual hopefully will not have be re redos in their lifetime. Along with that come challenges on that diagnosis piece to make sure they're eligible for the gene therapy. So again, through the device and technology sector, it plays a key role. In addition to the supportive care that goes on for some of these really severe conditions, people have some pretty dynamic needs and it's great to see how things are progressing, but it's still as equally as frustrating, whether you're on the manufacturer side or the family side, to see things be kind of slow sometimes. [00:06:15] Lindsey Dinneen: Yeah, of course. And you're dealing with a specific situation where many times-- please correct me if I'm wrong-- but it seems like many times there's these kinds of studies and conditions are not funded very well in terms of finding solutions to the problem. So how is that something that you, well, first of all, of course we're in a very interesting season of life right now. So how are you seeing funding evolve over the years for these different diseases that are a little bit more rare, and what can we all do in terms of even just awareness and understanding? [00:06:51] Sara Aswegan: Yeah, so that's a huge question. We could probably have about five conversations on this just to scratch the surface, Lindsey. I think if I reflect on the question on what we've seen around funding, I mean there are some wonderful, supportive grants available for the brilliant scientists we have around the world that have a curiosity. So making sure we can facilitate that ongoing academic environment to explore and test the hypothesis. And one of the things that you see coming along, and it's not really around-- I won't think about funding as just pure financial-- but it's the funding of the smarts that go around the table. You see a lot more collaboration amongst academia, industry governments coming together to help build and scale so that there's an awareness and understanding of a condition. I mean, a pediatrician could go through their entire career and never see a boy with Hunter Syndrome. It's just that rare. At the same time, and on the converse of that, if you're working in an industry where you do have access to more funds, the introduction of AI and looking at how we look at drug targeting, drug target selection, genetics and precision medicine have come along quite leaps and bounds in the last several years, but we're still not quite there. But you're seeing advancements with the different cell and gene therapies, having that precision medicine as an option. It's coming forward. The challenge is the size of studies are normally very small because the population is small. So thinking about patient recruitment, how can we help facilitate better identification of individuals that may be out there and not have received diagnosis because of the rarity of the condition? So looking at technology and advancement of integrated electronic health records up to and including, how do we look at the trial designs? And how do manufacturers, academics, industry, and agencies work together to think a little differently around even designing clinical endpoints for the studies that really are meaningful, that will make a difference. And how do you balance that, right? Correct risk benefit conversation, in the spirit of doing no harm. But if there's one chance and there's something available, how do you do that? And coming all the way downstream. If you think about where the organizations have advanced their thinking, their approach, and put funds behind, it's also that ongoing care of the individuals. If you look at the upstream, the types of tests that are available. It could be cancer, it could be the area I am so passionate about in genetic disorders, but it can also be thinking about the workflows that come into play in helping facilitate consistency of care across state borders, across country borders. It's a key piece that are really advancing in real time, but we're still trying to overcome the hurdles that are real. And that's things around data privacy. How do we navigate that in a really meaningful way with the right ethics and integrity. If we think about the regulators, this isn't a huge anti-infective or cardiac study that's ongoing, that there are gonna be tens of thousands of people. So how can we think a little bit differently on advancing the care. In the area I'm working in, Lindsey, especially with some of these individuals that are kids, if they don't get access to care by a certain age point, their window of treatment has closed. And so what could we do to help facilitate earlier diagnosis and then that advanced care. And so I think we can see a lot of really good intentions, and I think the most beautiful thing is even the collective gathering of different patient organizations that have a shared interest of a disease coming together and also helping raise research funds to help support the scientists that have a hypothesis on something that may really make a difference and may matter. [00:10:21] Lindsey Dinneen: Yeah. Yeah. Okay, so, there has been so much innovation in the last few years-- of course, even before that, but it seems to be extremely exciting in the last few years-- especially things like CRISPR and all sorts of new technologies emerging. What are some of the exciting trends that you're seeing in this space specifically that give you hope as you continue to look forward and look for solutions? [00:10:45] Sara Aswegan: I think for me, I mentioned, I touched on it lightly. I think it's that collective, that collaboration and the openness now. The FDA has advanced the way that they think and engage with agencies as well as industry partners. And so what I mean by that, Lindsey, is they're not just engaging with the scientists or with the manufacturers, the drug developers. They're also bringing patients in. And so that collaborative environment, they're even beginning conversations when there's discussion on clinical trial design to understand what really matters. Is it a six minute walk test or is it something around real behavioral or other abilities that can be learned and retained over time that help benefit the quality of life? If you're not gonna be able to cure something, what's really important at that patient front to help facilitate something meaningful. So I think that type of conversation also with the agencies looking at, there was an amazing session held in Europe recently in the mucopolysaccharidosis or the lysosomal storage disease area, looking at advancements of science and saying, can we look at biomarkers alone and create that relationship and understanding there is a clinically meaningful impact if we can address this biomarker. And so, companies like Ultragenyx have really pushed to have that conversation and dialogue and have a drug filed now that's under review based on biomarker endpoints alone, where five years ago, you would never have imagined that being possible. [00:12:12] Lindsey Dinneen: Yeah. Yeah. You touched on something that I would really love to explore a little bit deeper, and that is, when there's a situation that right now we don't have a cure for this disease-- and, you know, obviously we're still working towards it-- but if we don't have a cure, but we are trying to improve the quality of life, how do you balance that in your specific field in terms of: obviously you want the patients to live the best quality of life that they can while balancing so many other, and I don't mean this in a callous way at all, just from a practical perspective, balancing all of these other considerations and things that are also desiring funding and all those competing priorities. So how do you balance that? How, how does that come into play? [00:12:57] Sara Aswegan: So that's a big one. It's a tough one. And I'll oversimplify it and just say data. And what I mean by that, Lindsey is really looking at, with the technology at our fingertips, regardless of the geography you're living in, there's a lot of meaningful information that can be captured. And it's not, again, around one aspect of a disease, but it's the totality of health. So really looking at what could be possible in capturing, is it around energy levels, activity levels. And you'll see that oftentimes in play with the gene therapy, for example, when it's administered, you may have up to 15 years of follow up that you're capturing specific data points. But even in advance of a drug approval, and an area I am also equally passionate about, is access to unlicensed medicines for individuals that can't travel to a clinical trial site and could benefit from an investigational therapy, how do we do that with the right balance in place? And part of that is data and having the willingness of a participant or family member to be so consented in and participating in the study for their child to share that data and share that real world data or real world evidence so that you can measure back and show what impact that drug or treatment or intervention has been having on the individual. So I think it's around that and figuring out how we can overcome some of the complexities and challenges that are real. Not everyone has electronic health records. There's still lots of paper-based offices out there. But in the meantime, there's a lot of advancements in technology. So how do you appropriately use that, that it's also not overburdensome for the individual, for the family as well, that you're doing what really matters and measuring back and having the right conversations with the individuals affected, the investigators, the clinicians, but then the regulators, and going back and sharing why this can be something to help substantiate. It's not your standard phase 1, 2, 3 clinical trial design. That's, yes, there's rigor, but it's a different way of looking at using data to help us advance our understanding of a disease and what's needed by the individual affected. [00:14:53] Lindsey Dinneen: Yeah. So, so when you're speaking with these families and or-- well, first of all, let me actually back up. Do you have direct communication with some of these families and patients that you're working with? [00:15:04] Sara Aswegan: Yes. [00:15:05] Lindsey Dinneen: Yeah. And so when that happens, how. How is it for you? I mean, this is such a challenging area that you have devoted your life to and to, and I'm so impressed with that. And, you're doing the work that's helping save lives and make a difference. But that must be really challenging from a personal level to have these difficult conversations. So how do you balance that as a practitioner and somebody who's desiring to help, but you also have this real life compassion and human being that you're trying to help? [00:15:38] Sara Aswegan: It's tough and it's tremendously rewarding. At the same time, I have so many patient stories I can share with you of meeting them and meeting 'em where they are. I made a trip to Sao Paulo, Brazil once, Lindsey, and met a family that were living in the favelas there, and their aim was to help raise awareness for Hunter's Syndrome because their son had been undiagnosed. They knew something was wrong. He was nonverbal. He had some physical presentation that you could understand. There was something going on, but the technology wasn't there for them. The access to the care center wasn't there for them to get a diagnosis. They were taking buses for hours to different clinics to figure out what's wrong with our son. And he finally received a diagnosis of Hunter Syndrome and they wanted to share the photos because kids with Hunter Syndrome do have some different dysmorphism. So there's something that's strange. They have a bossy forehead, or their bridge of their nose is a little different. Their bellies might be a little bit bigger. So if you start looking at all of these different clues and putting it together, you might suspect and go-- there's other things going on, for sure. So I'm oversimplifying this. However, getting a diagnosis for him by just raising awareness to other families of the physical presentation and what their experience was extremely meaningful for them. And on balance, a family in Florida that I met and their son was diagnosed at age 18 months because their grandmother had seen a program on Mystery Diagnosis and said, "That sounds like my grandson." And so creating the conversation and meeting people where they are is really important because you may have some individuals that are very aware of how drugs are developed and all of the rigor that goes through that to then others that just they don't understand that some drugs are intended for a specific indication, specific population, and helping explain why their child may not be eligible for a particular study. It's tough, and that's not my responsibility, but the clinical teams and the clinicians that are having those conversations. So it's listening and really coming with a open heart and mind and having empathy to help figure out how can you educate. It's even moving into gene therapy. What does gene therapy actually mean? What are the risks? I'm afraid this sounds like it's something so futuristic. What will this mean for my son or daughter in 10 years from now? And, we may not have all of the answers, but you know, science has advanced and it's that risk benefit that you have to exercise. But really it's that coming with compassion and a listening ear and understanding and being honest. And if I can't help, maybe there's someone else that can help or there's a, did you know, there's a clinic here or a center there and helping that network stay connected and thrive is really important. And also being their voice, Lindsey, I mean, we can, we have an opportunity on our pharma, biomedtech side of the world that we can share what we've observed and try to apply that as we come to work every day and think about that family we met in Brazil or in Boston or in Florida or in, you know, Frankfurt, and whatever they may be experiencing. So it's being their advocate in other areas as well. [00:18:34] Lindsey Dinneen: Yeah, exactly. So with what you deal with, I am wondering what kinds of misconceptions or myths do you often encounter that are interesting and yet you would prefer to correct so that those of us in the general population are more informed? [00:18:52] Sara Aswegan: That's a good one. So I think having worked in the rare disease space, one of the biggest scrutinies there, there's on two sides of the coin. One is around diagnosis and why we can't do more around diagnosis. And sometimes the science is just not there yet. So again, to some of these experiences, like the story of the family in Brazil, it may not be about a blood test. It may be about a physical appearance and helping people piece things together. I think on the other end is at the point of delivery of the diagnosis and then if there is a treatment or intervention that can be taken, and not everyone has the same principle in their heart. There are companies that are motivated for different reasons, but certainly the big topic is are around drug prices, whether it's a gene therapy or a chronic lifetime medication, of how do we navigate that and how do we navigate that in a better way? And I think we have to start looking as an industry, as a community of people, of how do we address that? The cost of doing a clinical trial is tremendous. It's hugely expensive. Does it warrant though huge price tags on drugs forever in perpetuity? What's that right balance? And I think having a level of social responsibility and looking at alternatives. And so imagine if we could reduce the time for clinical studies for requirements because we're able to look at other data. Things like the biomarker approach and the follow on real world data that could be captured, could that help us in the total overall offering and the cost to the overall health system? Maybe. I think that as an industry, every company operates with different principles and wanting to do best for the patient community. Some are more profit driven than others, and so that's a reality, and it's one that I get so often at dinners with friends or in personal conversations, professional conversations, and it's a tough one. At the same time, a study of 60 individuals could be double digit millions of dollars. Just the cost of facilitating the study, the production costs of some of these highly technical compounds of different therapies also becomes a factor. So you have to put all these pieces together and really explore what's driving that. [00:20:57] Lindsey Dinneen: Yeah, of course. And yes, I'm sure that's a really difficult conversation to have too, when you're especially working directly with patients and trying to explain all of that and that's a lot. That's a challenge. [00:21:10] Sara Aswegan: Yeah. Yeah. [00:21:11] Lindsey Dinneen: But on the flip side, you know, of course the work that you do makes a huge impact, and I'm wondering if there are any stories that come to mind that just really reinforced to you, "You know what? I am in the right place at the right time, in the right industry." [00:21:25] Sara Aswegan: Absolutely. And I think it goes to, I touched on it very briefly, and there are people that aren't living in near major cities, near major medical centers, and that should not make them obsolete from receiving the best care. And there are two things that have happened and partly because of the pandemic, but also partly because of the willingness to educate and have that connected community amongst clinicians, is around that access to unlicensed medicine and finding pathways that it's not just because a doctor says your son or daughter needs this medication. I'm going to reach out to the manufacturer to see if I can get access because they're not near a clinical trial site or they don't wanna participate, or they're unable to participate in a study. But finding means to do that. And there have been some really creative ways that clinicians have been able to do that, of setting up qualified treatment centers where the individual can go to receive the treatment and then that continuity of care is provided then over the life of their disease. It's something that's become real and meaningful, and you would be shocked at the number of individuals around the world that are receiving access to medicines that normally might have only 10 years ago been available if you were living in the Western Europe or the United States because studies weren't conducted in their country and so there's no pathway for access that is all changing. Those dynamics are changing. It takes a team of people, though. It takes regulators, it takes lawmakers, it takes industry. It takes our logistics teams to be sure if something's stored at cold chain, that that product is delivered in the right context at the right time, just in time for that patient to receive it. So it's a complex challenge, but it's one that we've seen serve individuals in a really meaningful way. And without that, they wouldn't have, they wouldn't have another option. [00:23:11] Lindsey Dinneen: Yeah. So having that impact and just being able to reinforce in those moments of maybe when it's especially difficult or you're especially frustrated like, "Oh my gosh, I wish I could help X, Y, and Z," at least you can look back and go, "Yes, but look at all this that we are doing." [00:23:26] Sara Aswegan: You know, Lindsey, also it's that education piece and being curious and asking questions. The scientific community and one of the lead leaders in the NPS community is in North Carolina, Joe Munzer. Dr. Joe Munzer, he's brilliant. And one of the initiatives that we started was something called a masterclass. And so with Dr. Munzer and seven or eight other clinicians from around the world, we literally went on an educational program around the world. And some of the individuals that had just come out of their postgraduate work, pediatric geneticists or neurologists meeting the number one or two people that know this space so well, being mentored by them. And now those individuals are facilitating their class, the same type of class in their local language to their local communities and creating that level of education and awareness. I mean, it's just to see that real impact over time. I actually get goosebumps just thinking back on the impact that has had. And you've got a community of clinicians that they're, I mean, there's a lot of needs still to study medical genetics. And so hopefully we have individuals that are scientifically interested and will continue that that journey so that they can be the next teachers across borders. That makes the difference. [00:24:37] Lindsey Dinneen: Yeah. Absolutely. Wow. Yeah. Thank you for sharing that. I was also getting goosebumps just listening to it because that's incredible ripple effect that you had and continue to have. That's amazing. [00:24:47] Sara Aswegan: Yeah. Yeah. [00:24:47] Lindsey Dinneen: Yeah. Oh man. Okay. Well, I could talk about this for a long time, but pivoting the conversation a little bit, just for fun. Imagine that you were to be offered a million dollars to teach masterclass on anything you want. It can be within your industry, but doesn't have to be. What would you choose to teach? [00:25:05] Sara Aswegan: Wow. That is a great question, Lindsey. A masterclass-- a million dollars-- a masterclass on anything I would want. I would be drawn to some of the advancements we're seeing in gene therapies, but I think that would be, I wanna try to serve a broader population. Do you know? I think it's, I think if I could look, I would do something around looking back on some of these, if you will use cases and best practices, to share those learnings, just because we know the impact that it will have and has had and continues to have. And not just on the scientific community, but it ripples down into the patient communities of asking that question of "what can be possible, how can we together." Instead of " no," it's actually, "yes and" or "no and" we hear something else, another construct. And really breaking it down to really enforce what I've talked about on several moments during our conversation today is it can't just be the manufacturer, the, or the developer. It can't just be academia. It can't just be health authorities or regulators. It's a collective community and it has to include that patient within that conversation to help for that learning and advancement and understanding. And so I think it's something around that, the best practices, use cases, and really things that made a difference. Meeting people where they are of a good understanding of the science, not good understanding of the science, that crosses all levels. Drug development overall. The total continuity of care for my individual affected. It's not just about a drug, but it's about assistive devices or other tools that they can have a better life. And so being really thoughtful about that I think would be something that would be really amazing. That it's actually captured and taught back. [00:26:47] Lindsey Dinneen: Yeah, absolutely. That would be a fantastic masterclass. All right, and then how do you wish to be remembered after you leave this world? [00:26:56] Sara Aswegan: Well, at some point I know my husband will admit I have the best sense of humor. [00:27:01] Lindsey Dinneen: Yes. [00:27:02] Sara Aswegan: I think for me, Lindsey, I really would hope that people would say an open heart, a generous heart, and just a connector of people, personally, professionally. It takes two seconds to be kind and open and nobody has all the answers. So help people connect with others and be willing to say, "How can I help?" [00:27:20] Lindsey Dinneen: Yeah, absolutely. Yeah. And then final question, is one thing that makes you smile every time you see or think about it? [00:27:31] Sara Aswegan: I just came in from my garden and I have to say, seeing my advancement of fostering my garden and I've got things blooming now. There is hope. [00:27:40] Lindsey Dinneen: I love that. I feel that way every time I somehow succeed in keeping a plant alive. [00:27:45] Sara Aswegan: There is hope. It's really around the simple things, right? That's it. [00:27:49] Lindsey Dinneen: Yeah, absolutely. Now, for any of our listeners who are excited to get to know about you and your work a little bit more, can you just share briefly what is it that you do right now to help companies succeed and how can people get in touch with you? [00:28:02] Sara Aswegan: Thanks, Lindsey. So I am currently doing some advisory board work for a couple of consultancies as well as helping some small and mid-sized biotechs figure out their pathway and how they go to market. How do they facilitate access to unlicensed medicines? I'm passionate about the rare space, so I'm serving also on a couple of special projects on getting drugs and diagnostics into low middle income countries. And it's something I'm very passionate about and I've got a great network of people. So if I can't help, I'm always happy to say, "Not me, however, I know someone you should talk to." And to get in touch, it's not easy to spell, but it's www.saraaswegan.com. And again, if I can't help, I might know someone who can. And I think it's just, it's really good to share our knowledge and experience and really make a difference however we can. [00:28:47] Lindsey Dinneen: Yeah. Absolutely. Well, thank you, Sara. This has been absolutely incredible to learn from you, to hear about your story. So thank you for sharing and being open. I really appreciate that. And my goodness, I just wish you the most continued success as you work change lives for a better world. [00:29:03] Sara Aswegan: Thanks Lindsey, and thanks for everything you're doing. Really, hats off. Thanks a million. [00:29:07] Lindsey Dinneen: Of course, and have the best rest of your day. And thanks also to our listeners for tuning in. If you're feeling as inspired as I am right now, I'd love it if you shared this episode with a colleague or two and we'll catch you next time. [00:29:22] Ben Trombold: The Leading Difference is brought to you by Velentium. Velentium is a full-service CDMO with 100% in-house capability to design, develop, and manufacture medical devices from class two wearables to class three active implantable medical devices. Velentium specializes in active implantables, leads, programmers, and accessories across a wide range of indications, such as neuromodulation, deep brain stimulation, cardiac management, and diabetes management. Velentium's core competencies include electrical, firmware, and mechanical design, mobile apps, embedded cybersecurity, human factors and usability, automated test systems, systems engineering, and contract manufacturing. Velentium works with clients worldwide, from startups seeking funding to established Fortune 100 companies. Visit velentium.com to explore your next step in medical device development.

At-home cervical cancer screening device gains clearance; the FDA indicates it wants to remove pediatric fluoride products from the market; the chikungunya vaccine is put on-pause for some individuals; a subcutaneous autoinjector is approved to treat migraines; and the FDA will review a gene therapy for Hunter syndrome.

“As a first movie as well, the adrenaline was just insane! Like Seeing Chris (Hemsworth), seeing everyone, it was just amazing” - Sean Millis on ‘Furiosa: A Mad Max Saga'. You've probably seen Sean on your social feed before! Whether it's Australian television's ‘The Voice' where Sean describes the gravity of the blind audition as being “scared and a bit anxious” to the journey of now playing a character in one of Hollywood's biggest franchises, can Dylan Alcott and Angus O'Loughlin get an exclusive out of Sean before the films released this coming Thursday May 23rd? Not only did his song reach #1 in the UK but inspired and encouraged none other than Premier League team Manchester United Rasmus Hojlund for an unforgettable goal that Sean describes as full of ‘adrenaline'. But how does Sean keep up with this hectic schedule when his life revolves around regular hospital visits? He reveals what our screens don't show in this episode of ListenABLE.   Want to show your Support for Sean? Instagram: https://www.instagram.com/sean.millis/?hl=en TikTok: https://www.tiktok.com/@sean.millis   Watch the Full Episode on YouTube with Captions Here: https://youtu.be/Yn6ESbjiSa4 Grab our first merch release at our website From Your Pocket https://fromyourpocket.com.au/work/listenable/merch Recorded, edited and produced by Angus' Podcast Company  https://fromyourpocket.com.au/ Grab our first merch release at our website From Your Pocket https://fromyourpocket.com.au/work/listenable/merchSee omnystudio.com/listener for privacy information.

Our Carrier Connections program features a different X-linked condition each month with the goal to increase awareness of X-linked conditions and how they impact the lives of women and girls. This month, we are featuring Hunter syndrome. Hunter syndrome is an X-linked genetic disorder caused by the deficiency of the iduronate 2-sulfatase enzyme, an essential protein required for sugar breakdown. As a result, a specific type of sugar molecule, glycosaminoglycans (GAG), builds up in the cell, causing widespread issues in the physical and mental development of individuals affected by this syndrome. Today, we are bringing on Cristol O'Loughlin, founder & CEO of ANGEL AID CARES and a carrier of Hunter syndrome. Cristol is fiercely passionate about providing social, emotional, physical and financial relief to Raregivers™ ~ patients, caregivers, and professionals who hold both hope and grief in the same human heart. Carrier Connections is sponsored by Horizon Therapeutics, Sanofi, and Ultragenyx Pharmaceutical. For more information about our organization, check out ⁠⁠⁠rememberthegirls.org⁠⁠⁠.

Unlock the inspiring journey of the SLK Foundation as your host, Nell Tice, and special guest Steve Trott, share the heartfelt story behind this remarkable organization. Be moved by the personal experience of Steve's nephew Sean, whose battle with a rare terminal illness, MPS2, or Hunter Syndrome, was the catalyst for the formation of this life-changing foundation. Discover the devastating impact of this illness, and the treatment options available, as we peel back the layers of this mysterious disease. Strap in as we navigate the intricacies of the SLK Foundation, a unique organization that's all about raising awareness as much as it is about raising funds. We're sustaining and supporting 15 wonderful children across 12 families in five states, all through the power of word-of-mouth. Get a glimpse of my own journey with the SLK Foundation, which began when I was approached by Steve and looking for a way to help as I was diagnosed with scoliosis at a tender age of six. Lastly, we spotlight our exciting upcoming event, the Summer Bash. This is not just another fundraising event; it's an opportunity for you to meet and connect with the beautiful families and brave children we work with. Mark your calendars for a night filled with raffles, auctions, dinner, and live music on August 25th, 6-10 pm, at the picturesque Melhorn Manor in Mount Joy, Pennsylvania. Join us in making a difference, one child at a time, and experience the true power of community spirit and the profound impact of the SLK Foundation. Support the SLK Foundation and learn more: https://www.slkfoundation.org/ Purchase tickets for the annual Summer Bash: https://www.facebook.com/events/248566177665391/?acontext=%7B%22event_action_history%22%3A%5B%5D%7D

This week's podcast is sponsored by Quantoom.International MPS Awareness DayMay is the big month when it comes to awareness - there are almost 100 awareness months, weeks, and days being marked.Some of these are well known conditions. Others, however, are less prominent.International MPS (mucopolysaccharidosis) Awareness Day takes place on May 15.According to the National MPS Society in the U.S., mucopolysaccharidosis (MPS) and mucolipidosis (ML) are genetic lysosomal storage diseases (LSD) caused by the body's inability to produce specific enzymes. The missing or insufficient enzyme prevents cells from recycling waste, resulting in the storage of materials in cells throughout the body. As the disease progresses, there is widespread damage throughout the body, including the heart, bones, joints, respiratory system and central nervous system, leading to a shortened lifespan.There are 12 different forms of MPS.For example, MPS I includes Hurler Syndrome, Scheie Syndrome and Hurler-Scheie Syndrome, while MPS II covers Hunter Syndrome.Hurler Syndrome takes its name from Gertrude Hurler, the doctor who described a boy and girl with the condition in 1919. In 1962, Dr. Scheie, a consultant ophthalmologist, wrote about patients who were more mildly affected. Individuals who do not fit the severe or mild ends of the disease were said to have Hurler/Scheie. The specific disease names have been replaced with the designations attenuated (diminished severity) and severe MPS I. MPS I has a wide range of symptoms that vary in severity and can be managed and treated with enzyme replacement therapies. There is no cure for MPS I. Mucopolysaccharides are chains of sugar molecules used to build connective tissues in the body. MPS I patients are missing the enzyme alpha-L-iduronidase, which is essential in breaking down the mucopolysaccharides dermatan sulfate and heparan sulfate. These materials remain stored in the body's cells, causing progressive damage. Babies may show little sign of the disease, but as cells sustain damage, symptoms start to appear.To talk about the disease, treatments, research, and the future prognosis for those with MPS, is Dr Matthew Ellinwood, chief scientific officer at the National MPS Society.

We speak to Denali Therapeutics about overcoming the challenge of the blood-brain barrier to treat devastating neurodegenerative diseases.In this episode, Denali's founder Ryan Watts tells Scottish Mortgage's manager Tom Slater why he thinks his company can succeed where big pharma has failed to develop effective treatments for neurological disorders. The two discuss why the biotech company is not only targeting Alzheimer's but Parkinson's and the motor neurone disease amyotrophic lateral sclerosis (ALS), among other conditions. In addition, they cover the importance of giving the firm's staff a strong sense of mission and the need to be prepared for failures along the way.Denali is tackling one of the greatest medical challenges of our time. Every day in the UK, 600 people develop dementia, and roughly one in 14 people over the age of 65 currently live with its effects. Alzheimer's is the most common form of the condition, and no cure or treatment currently slows it down.Denali's development of a technology that effectively sneaks large molecules through the biological shield protecting our brains from toxins addresses a factor that has frustrated previous efforts to design viable drugs. It has already developed a promising treatment for Hunter Syndrome, a condition in which the body doesn't break down sugar molecules causing damage to the brain, and it has candidate drugs for several other diseases in its pipeline.Check the podcast description to ensure this content is suitable for you. Your capital is at risk.Read more:Denali Therapeutics announces key anticipated 2023 milestones for its therapeutic portfolio for neurodegeneration and lysosomal storage diseasesCredits:Presenter: Claire ShawAudio production agency: ListenProducer: Phil SansomExecutive producer: Suzy GrantProduction manager: Niamh KiddEditorial lead: Malcolm Borthwick Hosted on Acast. See acast.com/privacy for more information.

Today, we are joined by Dr. Zhanzhi Hu (aka Mike) who is the co-founder and President of Project GUARDIAN, a nonprofit organization with the mission of advancing genomics-based newborn screening where they have a mission of genome sequencing 100,000 babies in New York City. His dedication and motivation to ensuring all babies have the best chance to live a healthy life stem from his own experience as a parent of two children with a rare disorder called MPS II and also known as Hunter Syndrome. He is an ardent advocate for newborn screening and works tirelessly to bridge the gap between advanced technologies and the critical need for the expansion of the newborn screening public health program. Mike is also an Adjunct Associate Researcher at Columbia University where he conducts newborn screening-related research. Dr. Hu received his Ph.D. degree in Molecular Genetics and Microbiology from the University of Texas at Austin and his B.S. degree in Cell Biology and Genetics from Peking University. He is currently on the Steering Committee and chair of the researcher needs workgroup at NBSTRN. He will share his perspectives as a researcher, parent, and advocate for NBS research as well as his efforts collectively with other key stakeholders in the research, clinical, and advocacy realm in helping to get MPS II added to the RUSP.  Be inspired by his story of determination, perseverance, and purpose in advancing NBS research.    Interview Questions with Dr. Hu: Hu, you are the co-founder and President of Project GUARDIAN, a new nonprofit organization with the mission of advancing genomics-based newborn screening.  This is a joint effort between academia and industry. Can you tell our audience how this initiative came to be?  Sequencing 100,000 newborns in NYC is a significant goal, and other institutions are undertaking similar activities such as Genomics England where Dr. David Bick (who was featured on our podcast) will be leading. What efforts are being undertaken to share information and strategies on best practices for disseminating sequencing information to families, clinicians, and researchers? Hu, you are a parent of two children with a rare disorder called Mucopolysaccharidosis II (MPS II or Hunter syndrome). Your first child was diagnosed with the condition around the age of 3.5 years old. Can you tell us how you found out about the diagnosis and what happened next? At the age of 12 months, your second child was diagnosed before the disease was evident due to his older sibling's findings. Can you share the clinical outcomes and any differences in the two siblings? Could you share your process in caregiving to your child with Hunter Syndrome? Any advice for new parents? Before your child was diagnosed with Hunter Syndrome, were you aware of NBS? NBS for Hunter syndrome is now added to the recommended uniform screening panel (also known as RUSP) and you were a part of these efforts. Can you describe this journey of adding a condition to the RUSP? Do you have any advice for other families on the nomination process? What do you think prospective parents should know about newborn screening research? You are currently on the Steering Committee and the Chair of the Researcher Needs Workgroup at NBSTRN; what efforts do you see NBSTRN can support in NBS Research and your efforts in the GUARDIAN project? What does NBS research mean to you?

This final episode is an overview of everything we have learned about Hunter syndrome. We also consolidate the practical tips from our guests to give you a summary of their advice on living with Hunter syndrome. VV-MEDMAT-54312

The diagnosis of Hunter syndrome compels families to re-evaluate their priorities and rethink their future plans. Bob Stevens joins us again, but this time from a parent's perspective, to share his family's journey as his two adult sons navigate life with the attenuated form of Hunter syndrome. VV-MEDMAT-52004

Hunter syndrome is a rare and life-changing disease. In this introductory episode, we provide a basic overview of Hunter syndrome, its cause and genetic inheritance. We also go over its common signs and symptoms, as well as the journey to a diagnosis. VV-MEDMAT-45370

Hunter syndrome has a wide range of clinical manifestations and requires a complex treatment and management strategy. This episode details the multiorgan nature of the disease, potential management options, and how they can reduce the likelihood of complications for patients. VV-MEDMAT-45371

The clinical symptoms of Hunter syndrome appear across a diverse spectrum. In this episode, we are joined by Dr Barbara Burton, a specialist in the disease. Dr Burton discusses how Hunter syndrome has impacted patients in her clinical practice and the challenges in reaching a diagnosis. VV-MEDMAT-45374

Managing Hunter syndrome is a complex and life-long process, with many specialists involved in caring for patients. In the second part of our interview with Dr Barbara Burton, we take a deeper look at the importance of a coordinated care approach in managing Hunter syndrome. VV-MEDMAT-45377

Listen to RareShare's latest podcast with Geraldine Renton, book author and Irish mother of a Hunter Syndrome child. In this episode, Geraldine tells of her family's journey navigating the challenges of a rare disease that led to the writing of her book Ethan and Me. Hear about their courageous battle with adversity, as they learned of the genetic enzyme deficiency behind the disease and faced its unrelenting consequences, leading to Ethan's passing in late 2020. From learning about Ethan's diagnosis, to locating support and treatments, to just being a mom, the podcast paints a broad perspective about confronting a rare disease. This very candid and detailed account, which includes many lighter enduring moments about life with Ethan, is heartwarming, informative and inspirational.     From the book Ethan and Me:  "You're now in a secret world. You'll see things you never imagined... yet you'll also witness so many everyday miracles. You'll treasure things most wouldn't think twice about. You'll become an advocate, an educator, a specialist and a therapist, but most of all you'll be Mom or Dad to the most wonderful child."

MPS II (Hunter syndrome) is one of 11 mucopolysaccharidoses (MPS) diseases: a group of rare, genetic, metabolic disorders. In this episode, Professor Roberto Giugliani (Department of Genetics of the Federal University of Rio Grande do Sul and Chief of the Medical Genetics Service of Hospital de Clinicas de Porto Alegre, Brazil) discusses the pitfalls of recognising MPS II, a rare and progressive disease. MPS II is difficult to diagnose due to the large heterogeneity in clinical presentations and symptom overlap with common childhood complaints; Professor Giugliani highlights key red flag symptoms for healthcare professionals to be aware of that might prompt clinical suspicion of an MPS disorder. He describes the current diagnostic methods used, including urinary GAG testing, enzyme assays and genetic testing, and discusses the future of GAG testing. He describes the referral network in Brazil as an example to promote earlier referral for testing and earlier diagnosis. This podcast series was initiated, organised and funded by Takeda and is intended for a global healthcare professional audience (ex US, ex UK). Professor Giugliani has received honoraria for this podcast. The views in this episode are those of the speaker, and not necessarily those of Takeda. This information is available for information purposes only; it should not be used for diagnosing or treating a health problem or disease. It is not intended to substitute consultation with a healthcare provider. Please consult a healthcare provider for further advice.

Research at Children’s Health fuels innovative treatment options for children facing a rare diagnosis of Bow Hunter Syndrome. Learn how neurology experts are paving the way for patients to receive specialized, multidisciplinary care.

MPS II (Hunter syndrome) is one of 7 clinical types of mucopolysaccharidoses (MPS) diseases: a group of rare, genetic, metabolic disorders. In this episode, Dr Lampe (Centre for Rare Diseases, Geissen University Hospital, Germany), discusses the practicalities of achieving an earlier MPS II diagnosis – a crucial challenge towards improved disease management. Dr Lampe shares 12 years of experience in the field of MPS, covering exactly how MPS II impacts the quality of life of patients and their families. Ultimately, Dr Lampe explains the combination of symptoms that can prompt an earlier suspicion of MPS II, and how this can unlock appropriate disease management and patient support. This podcast series was initiated, organised and funded by Takeda and is intended for a global healthcare professional audience (excluding US and the UK).

In this episode, Amy and Ray Miller , parents to Dan, who had Hunter Syndrome and Hailey join CPN’s Jennifer Siedman to talk about surrounding their son Dan with love, family and friends during his final days, their identity as parents and being happy again.

Mucopolysaccharidosis type II (MPS II) is a rare genetic disorder that can impact the nervous, cardiovascular, respiratory, and musculoskeletal systems. This progressive multisystemic pathology requires a multidisciplinary approach involving a number of specialists with knowledge of the idiosyncrasies of MPSII. In this podcast, we hear from specialists in the MPS field, who share their experience and best practice for minimising surgical risks in MPS II patients.

Mucopolysaccharidosis type II (MPSII) is a rare genetic disorder that can impact the nervous, cardiovascular, respiratory, and musculoskeletal systems. This progressive multisystemic pathology requires a multidisciplinary approach involving a number of specialists with knowledge of the idiosyncrasies of MPSII. In this podcast we hear from specialists in the MPS field, who have implemented this approach in their own patients, about their experiences of managing MPSII.

MPS II is one of 7 mucopolysaccharidoses (MPS) diseases. It is a rare genetic metabolic disease, caused by a variety of possible mutations. MPS II can be inherited in an X-linked recessive pattern from mother to child or by de novo mutation. This means that a number of MPS II patients can present with a family history of the disorder. In this episode, our panel discuss the importance of assessing family history to decrease the diagnostic delay for MPS II. Learn about the benefits and challenges of assessing family history from the case studies of experts in the field: Professor Roberto Giugliani (Medical Genetics Service of Hospital de Porto Alegre, Brazil), Professor Anna Tylki-Szymanska (The Children’s Memorial Health Institute, Warsaw) and Professor Maurizio Scarpa (Udine University Hospital, Italy). This podcast series was initiated, organized and funded by Takeda Pharmaceutical Company Limited, and has been developed for an international HCP audience (outside the US and UK).

Hunter syndrome

This episode of the podcast is dedicated to the 2nd Annual Cars & Cures Car Show benefitting a nonprofit called, Project Alive. The mission of Project Alive is to find a cure for a rare disease called Hunter Syndrome. "Project Alive is a powerful voice for children and adults with Hunter Syndrome, bringing together families and advocates with researchers, industry, and regulators. Project Alive funds promising curative research, assists researchers and industry with designing research studies for our community, and advocates for the most effective and efficient system of clinical research, evaluation, and approval. Through its innovative campaigns and grassroots efforts, Project Alive has made significant advances in public awareness about Hunter Syndrome and its symptoms, the need for early diagnosis, and available treatments and clinical trials." - From the Project Alive website. It was really great sitting down and speaking with Melissa Hogan, the Founder and past President of Project Alive and three of her friends that have come together to help make Cars & Cures a reality! Barbara Esteves runs a PR company that has helped with raising awareness, Liz Hadaway is the "Director of Chaos" at Mill Creek Brewery and Albert Ayotte is the owner of Mill Creek Automotive. All three of these individuals are passionate about facilitating the mission of Project Alive. They all have a big heart and care about providing opportunities for the community to come together to support local businesses and really notable/worthy causes. They have some really great insights on the typical STP topics and we get the full story about how this awesome event came to fruition! The event is happening on September 28th, 2019 from 10:00-3:00 at Mill Creek Brewery. There will be live music, delicious craft beer from Mill Creek Brewery, food trucks, bouncey houses/inflatables, and of course cool cars/trucks/motorcycles! Live Music Performers: The William Blake Band, Tiffany Williams, Tarryn Smith, Jenna LaMaster & Brett Sheroky. Food Trucks: Cousin’s Lobster, Dawg Days, Meadow’s Melts, and the Peach Cobbler Factory. It's free to attend and only $20 to enter a car in the show. Please come out if you are able! It's going to be a really great time! Big thank you to everyone for being on the podcast and all they are doing to Spread The Positive! Hope to see everyone out there on September 28th!

Learn more about this rare, genetic disease

In this episode, we meet Sebastian's family. Sebastian's illness known as Hunter Syndrome, affects only 1 in 100,000 to 1 in 170,000 primarily males. The family shares their story and want other parents with children with rare diseases to know they are not alone.

ENTs are among the most likely physicians to recognise the early signs and symptoms of Hunter syndrome.

Hunter syndrome patients often face a long journey to diagnosis. Prof Joseph Muenzer and Prof Chris Hendriksz discuss the diagnostic challenges of living with a rare disease and the importance of early referral to optimise management of this rare, progressive disorder. This podcast series was initiated and funded by Shire and is intended for a global healthcare professional audience. (c) Shire C-ANPROM/INT//2692 March 2018

Professor Joseph Muenzer, an expert in MPS diseases, introduces the basics of MPS diseases. This podcast was initiated and funded by Shire and has been developed for an international HCP audience.

E78 – Founder and president of Project Alive human Melissa Hogan is dedicated to finding a cure for Hunter Syndrome. It’s one of the rarest diseases/genetic disorders in the world and her son Case was born with it, prompting Melissa to leave her attorney life behind and devote all of her time, energy and resources […]

Raising a child with special needs comes with a set of challenges for which most parents are not prepared. One of the best ways to overcome these difficulties is to learn from other families who are successful in their journey of raising a child with special needs. That’s why in this episode, Dr. Meg sits down with Chris and Melissa Hogan to talk about raising their special needs son, Case. Melissa runs a non-profit called Project Alive (projectalive.org) whose mission is to cure Hunter Syndrome, and Chris is the host of the Retire Inspired podcast, best-selling author, and Ramsey Personality (chrishogan360.com). Also in this episode Dr. Meg gives you her three points to ponder to begin using right away and answers a question from a mom struggling to get her toddler to eat at mealtime. Do you have a question for Dr. Meg? If so, email them to askmeg@megmeekermd.com and she could answer your question in an upcoming episode! 0:00 – AD – EDUCATION A LA CARTE Want your child to flourish in their school environment? To master real-life skills? To succeed in their future endeavors? Now’s the time to actively engage with your child’s education, with Education a la Carte. In this practical book, parenting expert and longtime educator Dr. Kevin Leman takes the guesswork out of choosing the best schooling for your child. He explores the pros and cons of public, private, and charter schools, as well as homeschooling and online schooling. Visit Revellbooks.com to learn more! 0:44 – AD – COOPER TIRE Cooper Tires has more than a century of experience in manufacturing comfortable, capable tires. Each Cooper tire is made to last for thousands of miles and to help get you safely where you need to go and back again! You can count on Cooper Tires, an American company since 1914! For more information or to find a Cooper Tires dealer near you, visit CooperTires.com today! 1:55 – WELCOME Dr. Meg introduces the topic “Raising A Child With Special Needs”. She also teases her conversation with Chris and Melissa Hogan, her three points to ponder, and a question from a mom struggling to get her toddler to eat. 3:10 – POINTS TO PONDER Dr. Meg gives you three points to ponder as you learn more about raising a child with special needs. 13:31 – PARENTING RESOURCES Dr. Meg understands that talking to your kids about sex is uncomfortable and wants you to have the tools you need to make this conversation easier and more effective. Check out Dr. Meg’s digital toolkit, “How To Have The Talk With Your Child” to get ready for the initial conversation. Go to megmeekermd.com and click on “Parenting Resources” to find out more! 16:10 – A CONVERSATION WITH CHRIS AND MELISSA HOGAN (PART 1) Dr. Meg sits down with Chris and Melissa Hogan to talk about how they are raising their special needs son, Case, what their other sons are learning from Case, and how families without special needs children can help families that do. 27:18 – AD – WARBY PARKER At Warby Parker, they believe eyewear should be extremely affordable and fashion forward. Their glasses start at just $95, including prescription lenses with anti-glare and anti-scratch coatings. Their Home Try-On Program allows you to order 5 pairs of glasses to try on in the comfort of your own home and get feedback from friends and family. You can try the frames for five days before sending them back using a free pre-paid return shipping label, with no obligation to purchase. It’s 100% free! Visit warbyparker.com/meg to order your free Home Try-On’s today! 29:00 – AD – RXBAR Parents, you expect the same high-quality, clean label nutrition for your kids as you do for yourselves, right? To help with that need, there’s RXBAR Kids: a clean label snack bar made with high-quality, real ingredients designed specifically for kids. With egg whites, fruit and nuts as the base, RXBAR Kids contain 7 grams of protein and have absolutely no added sugar, gluten, soy, dairy, or bad stuff. And they come in three flavors, including Chocolate Chip, Apple Cinnamon Raisin and Berry Blast! You can find RXBAR Kids at Target stores or for 25% off your first order, visit RXBAR.com/MEG and enter promo code “MEG” at checkout. 30:12 – A CONVERSATION WITH CHRIS AND MELISSA HOGAN (PART 2) Dr. Meg sits down with Chris and Melissa Hogan to talk about how they are raising their special needs son, Case, what their other sons are learning from Case, and how families without special needs children can help families that do. 51:09 – LET’S GET SOCIAL Email Dr. Meg at askmeg@megmeekermd.com or tweet your question to her @MegMeekerMD. In this segment, Dr. Meg answers a question from Stephanie, a mom struggling to get her toddler to eat at mealtime. 55:41 – PARENT PEP RALLY 56:30 – FROM THE PRODUCER Thanks for listening to Episode 37, Raising A Child With Special Needs and for helping Dr. Meg’s parenting revolution reach more than ONE MILLION downloads! Get Social with Dr. Meg on Facebook, Twitter or Instagram @MegMeekerMD Have a parenting question? Write Dr. Meg at askmeg@megmeekermd.com and your question could be featured in a future episode! Dr. Meg’s parenting resources and tools are available at www.megmeekermd.com and click on “Parenting Resources”. Enjoying the Parenting Great Kids podcast? Subscribe, rate, and leave a review for us on iTunes!

Allison talks honestly, and yet hopefully, about the struggles she faces as a mother of a child whose life is being cut short by a genetic disorder known as Hunter Syndrome.  As the Muedder Family pushes back fear and chooses joy, rooted in their deep faith in God, they find themselves a part of a much bigger story than the could have ever imagined.  If you've battled any type of fear you will find breathing room within this story and encouragement that God has something special hidden below the surface of our struggles. 

We continue our series on NC 's community colleges with Surry Community College. Chris Dutcher is working to educate people on Hunter Syndrome. Author Lucy Daniels talks about her new book.

Host: Mark Nolan Hill, MD Guest: Joseph Muenzer, MD Hunter syndrome is a rare but serious genetic disorder that inhibits the body's ability to break down specific complex carbohydrates. What are the prinicipal symptoms that would lead a primary care physician to consider Hunter syndrome? Dr. Joseph Muenzer, professor of pediatrics and genetics at the University of North Carolina School of Medicine, and one of the world's leading authorities in Hunter syndrome research, joins host Dr. Mark Nolan Hill to share his expertise.

Host: Mark Nolan Hill, MD Guest: Joseph Muenzer, MD Hunter syndrome is a rare but serious genetic disorder that inhibits the body's ability to break down specific complex carbohydrates. Initial onset symptoms include inguinal hernias, recurrent otitis, and the common cold, frequently manifesting concurrently as part of a multi-system failure sometime after the first year of life. Because many of these symptoms are common in infants, physicians often do not suspect Hunter syndrome, yet treatment for the disease is much more effective when administered early in its progression. How can we minimize the delay typically associated with diagnosis of Hunter syndrome? Dr. Joseph Muenzer, professor of pediatrics and genetics at the University of North Carolina School of Medicine, and one of the world's leading authorities in Hunter syndrome research, joins host Dr. Mark Nolan Hill to share his expertise.

Host: Mark Nolan Hill, MD Guest: Joseph Muenzer, MD Previously, patients could only receive palliative care for symptoms associated with Hunter syndrome, a rare but serious genetic disorder that inhibits the body's ability to break down specific complex carbohydrates. Now, a new enzyme therapy is making it possible to prevent Hunter syndrome manifestation, typically occurring as early as year two, which dramatically improves long-term quality of life. How quickly do patients show improvement with enzyme therapy? What are the most common side effects? Join host Dr. Mark Nolan Hill for an interesting conversation with Dr. Joseph Muenzer, professor of pediatrics and genetics at the University of North Carolina School of Medicine, and one of the world's leading experts on Hunter syndrome.

Host: Mark Nolan Hill, MD Guest: Joseph Muenzer, MD Previously, patients could only receive palliative care for symptoms associated with Hunter syndrome, a rare but serious genetic disorder that inhibits the body’s ability to break down specific complex carbohydrates. Now, a new enzyme therapy is making it possible to prevent Hunter syndrome manifestation, typically occurring as early as year two, which dramatically improves long-term quality of life. How quickly do patients show improvement with enzyme therapy? What are the most common side effects? Join host Dr. Mark Nolan Hill for an interesting conversation with Dr. Joseph Muenzer, professor of pediatrics and genetics at the University of North Carolina School of Medicine, and one of the world’s leading experts on Hunter syndrome.

Host: Mark Nolan Hill, MD Guest: Joseph Muenzer, MD Hunter syndrome is a rare but serious genetic disorder that inhibits the body’s ability to break down specific complex carbohydrates. Initial onset symptoms include inguinal hernias, recurrent otitis, and the common cold, frequently manifesting concurrently as part of a multi-system failure sometime after the first year of life. Because many of these symptoms are common in infants, physicians often do not suspect Hunter syndrome, yet treatment for the disease is much more effective when administered early in its progression. How can we minimize the delay typically associated with diagnosis of Hunter syndrome? Dr. Joseph Muenzer, professor of pediatrics and genetics at the University of North Carolina School of Medicine, and one of the world’s leading authorities in Hunter syndrome research, joins host Dr. Mark Nolan Hill to share his expertise.

Host: Mark Nolan Hill, MD Guest: Joseph Muenzer, MD Hunter syndrome is a rare but serious genetic disorder that inhibits the body’s ability to break down specific complex carbohydrates. What are the prinicipal symptoms that would lead a primary care physician to consider Hunter syndrome? Dr. Joseph Muenzer, professor of pediatrics and genetics at the University of North Carolina School of Medicine, and one of the world’s leading authorities in Hunter syndrome research, joins host Dr. Mark Nolan Hill to share his expertise.