On this episode of Raising Rare, we have the opportunity of talking with Jamas LaFreniere the father of a daughter with Glycogen Storage Disorder Type 1B. Jamas discusses their diagnostic journey and how it may be different from many other rare disease families, even those with the same disorder, his disbelief in what the treatment option is and hopes for a cure. Jamas and our hosts offer their experiences with a broad range of topics, public access to mouse models, drug repurposing, strict diets, transitioning to school and how different monitoring systems offer a bit of security in these new situations. Jamas also discusses the quality of life potential for GSD1B patients and the adult population that they now have a connection with.

Jamas started Sophie’s Hope to share Sophie’s story with the world but also as a sort of patient support group for other families in the community looking for a place to connect. Jamas is also the founder of CureGSD1B, his second non-profit. He talks with Sanath and Brittany about the importance of creating an umbrella organization to bring everyone together and give doctors and patients a place to really learn more.