Jamas and Margot LaFreniere started the Sophie’s Hope Foundation in 2020 shortly after Sophie, their daughter, was diagnosed with a rare disease: glycogen storage disease type 1B (GSD1B). The mission of the foundation is to support the development of treatments and a cure for the rare disease. This often entails fundraising for research and other initiatives that can further progress the creation of a treatment. Now Jamas is training to run in the Boston Marathon in order to raise money and awareness.
About GSD1B
Glycogen storage disease type 1B (GSD1B) is a genetic disorder in which the liver is unable to process and break down glycogen. This causes problems in the maintenance of regular blood sugar levels. Therefore, most patients have low blood sugar and excessive glycogen build up in the liver and, less commonly, the kidneys. GSD1B is caused by a mutation affecting the gene SLC37A4, which codes for the glucose-6-phosphate transporter. Symptoms include neutropenia, low blood sugar, increased risk of infection, enlarged liver (similar to nonalcoholic fatty liver disease), gout, kidney problems, anemia, hepatic adenomas, inflammatory bowel disease, thrombocytopenia, enlarged spleen, and pancreatic hypertrophy. Current treatment for metabolic control entails a combination of scheduled meals and snacks low in carbs and sugar and cornstarch every 2-4 hours. Consistent treatment can be critical, and a single missed dose of cornstarch can have potentially lethal consequences. Neutropenia is currently managed with a daily injection of G-CSF to increase neutrophils. There is success being seen in a number of patients using a repurposed SGLT2 inhibitor that is showing great promise as an alternative to the daily injections. The majority of children with GSD rely on feeding tubes for nutrition. To learn more about GSD1B, click here.
Running for a Cure
The foundation had a similar fundraiser last year, except it was Margot, not Jamas, who was running the race. This year, at age 40, it’s Jamas’s turn to enter the massive footrace. That they both have committed to running a marathon, which is no small feat, shows just how dedicated these parents are to finding a cure for their daughter Sophie. Furthermore, Jamas and Margot are not exactly hardcore marathon runners. Last year’s fundraiser was Margot’s first marathon ever, and this one will be the first for Jamas. They’re just dedicated parents and advocates trying to raise GSD1B funding and awareness.
The Boston Marathon has a special significance for the LaFreniere family; after all, they only live around two miles from the starting line. In preparation for the race, Jamas has been through months of intense training in frigid weather conditions. Sophie’s Hope Foundation has made real breakthroughs for the GSD1B community, raising over $600,000 in their first three years and establishing patient groups, guiding the development of the first ever publicly available mouse model of the disease, and establishing the first online patient registry for GSD1B, along with many other achievements.
When Margot ran the race last year, she was able to complete the race and raise $22,000. This year they have already raised over $30,000 and are hoping to reach at least $40,000. If you want to chip into this year’s fundraiser, click here.
