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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