Sylvain Berthelot Sylvain Berthelot

Episode 43: John Muller - Inclusion Body Myositis

John lives with inclusion body myositis (IBM), a rare muscle-wasting disease. He shares how his symptoms, such as difficulty climbing stairs and playing guitar, were initially mistaken for aging, and later led to a misdiagnosis of ALS. He describes the emotional impact of living with a rare disease, the challenges of receiving an accurate diagnosis, and the frustration of the limited treatment options available for IBM. Despite these challenges, John remains committed to raising awareness and advocating for research to improve the lives of those affected by IBM and other rare diseases.

The song that John selected is Into the mystic by Van Morrison.

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Sylvain Berthelot Sylvain Berthelot

Episode 42: Ray Huml - FSHD

Both Ray's children were born with FSHD (Facioscapulohumeral Muscular Dystrophy), a common yet lesser-known form of muscular dystrophy. He discusses the challenges they face daily, such as muscle weakness and limited mobility. Ray highlights the importance of the patient voice in understanding and treating rare diseases, drawing from his professional experience in the rare disease sector and his role as a father. He also touches on the role of community support and the ongoing need for research to better understand and combat FSHD and other rare diseases.

The song that Ray chose is SPACES, a song written by the Spinal Muscular Atrophy community and sung by James Ian.

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Sylvain Berthelot Sylvain Berthelot

Episode 41: Megan Starshak - Ulcerative Colitis

Megan was diagnosed with ulcerative colitis at 18 years old. Although she was diagnosed relatively quickly, what followed was a 6-year battle to find a doctor that would give her the attention she deserved. During that time, her quality of life went downhill, losing the ability to practice the sports she loved and losing some friends along the way. We discuss the voice of the patient in this interview, as Megan has taken part in Crohn's and Colitis Foundation's Day on the Hill twice.

The song Megan selected is You Will Be Found from the Broadway musical Dear Evan Hansen.

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Sylvain Berthelot Sylvain Berthelot

Episode 40: Barak Kassar - ICE Syndrome

Barak has an extremely rare eye condition called ICE (Iridocorneal Endothelial) Syndrome. Because of this condition, he also developed glaucoma in one eye. In this episode, we talk about Corneal transplants, glaucoma and how to care for your eyes, but also about the advancement of technology and AI as a tool for people with partial vision impairment.

Barak selected a full album, Cowboy Carter by Beyonce.

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Sylvain Berthelot Sylvain Berthelot

Episode 39: Lauren McDermott - Stiff Person Syndrome

Stiff Person Syndrome (SPS) is a rare condition that leads to painful muscle spasms. Lauren believes she had her first symptoms in early 2010s, although she was only diagnosed 5 years ago. She explains how the condition affects her body and her mobility. She also shares the impact it has had on her mental health and how she manages her energy levels to keep SPS at bay as best as she can.

The song Lauren chose is It was a good day by Ice Cube.

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