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, Margot is training to run in the Boston Marathon in order to raise money and awareness.
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. 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.
Fundraising and Spreading Awareness
So far, the foundation has found some success in fundraising, and Sophie’s Hope is also expanding into becoming an organization for GSD1B patient advocacy as well.
“We really just started with raising money and we saw this big gap that needed to be filled to create a global GSD1B patient advocacy organization.” – Jamas
Jamas and Margot are well aware that finding a cure for a rare disorder like GSD1B is an involved, long-term process, and they feel that the Boston Marathon is an apt metaphor for the journey that patients and advocates must make together to see progress.
“We live less than 2 miles from the start line in Hopkinton, MA, so the Boston Marathon is obviously a big deal to us, and it is the longest running marathon with the biggest field of competitive runners. It’s also an incredible fundraising machine.”
Getting into the marathon can be a challenge, but they were able to get in on their first try. Aside from fundraising, competing in the marathon is also an opportunity to spread awareness about GSD1B and rare diseases in general.
Margot hasn’t done a marathon before, and training in the depth of winter in New England is not for the faint of heart.
“Sophie goes through a lot day and night to maintain her health. She drinks cornstarch every four hours, blood sugar checks every four hours…she is being monitored all the time and has to get daily injections for neutropenia. I think I can run a marathon if she can do all that. It’s exciting.” – Margot
The Boston Marathon was delayed until the fall last year due to COVID concerns, but the 2022 marathon will take place on the traditional date of Patriot’s Day, which will be recognized on April 18th.
So what are you waiting for? To contribute to the fundraiser, click here.
For more info on GSD1B and the Sophie’s Hope Foundation, click here.
You can also check out the CureGSD1B Alliance here, which was also started by Jamas and Margot.