Rare Genomics Institute RareShare Ask the Expert:Podcast Series, Disease Specific Q&A Sessions, For feedbacks contact, Scientific Director, Rare Genomics Institute: Deepa Kushwaha, deepa.kushwaha@raregenomics.org (Music credit: www.bensound.com)

Receiving a Rare Disease Diagnosis: A Huntington’s Disease Patient Shares His Experience and Advice for Coping with a New Diagnosis (Patient Navigation)

We talk to rare disease experts about treatments, trials, and new developments, and rare disease patients share their experiences and advice for staying positive in the face of diagnosis. Learn more about the RareShare.org community, and how you can get involved. Get in touch if you are an expert or patient who would like to be on the podcast! Email us at rgpodcast@raregenomics.org

Health & Fitness

Two genetic counselors, Sasha Bauer and Chloe Cheung, discuss how genetic counseling can help rare disease patients understand and cope with their condition. While genetic information does not always lead to clear therapeutic options, the knowledge gained is empowering.

Genetic Counseling in Rare Diseases

Rare Genomics Institute founder and president, Dr. Jimmy LIn, discusses health equity and rare diseases in this episode of the RareShare podcast series.

Jimmy Lin RareShare Podcast

Serving the Amish and Mennonite communities in Central Pennsylvania, the Clinic for Special Children provides counseling and healthcare for rare disorders affecting the local population. In doing so, it has become a recognized leader in the treatment and scientific understanding of conditions such as Maple Syrup Urine Disease. Listen to an in-depth, fascinating story of the clinic, its goals, accomplishments and challenges as told by current staff members. You'll almost certainly agree that it is truly a special place!

Clinic for Special Children

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."

Ethan and Me with Geraldine Renton

This episode features RareShare itself, and discuss various topics ranging from its goals and how to utilize its networking and informational content. We hope to provide you with a brief, but comprehensive view of the website·s features, the diverse and

Receiving a Rare Disease Diagnosis: A Huntington’s Disease Patient Shares His Experience and Advice for Coping with a New Diagnosis (Patient Navigation)

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