Podcast appearances and mentions of hunter syndrome

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?

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

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

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 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.

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 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.