Sophie’s Hope Foundation’s primary focus is on finding a cure for Glycogen Storage Disease Type 1b. We are a patient advocacy organization fighting to push science to create better outcomes for children and adults with GSD1b. We are a volunteer-run 501c3 that was started by Sophie’s parents, Jamas and Margot LaFreniere, after their daughter Sophie was diagnosed in September of 2019. Our team is an incredible mix of passionate parents, brilliant doctors and scientist, and rare disease advocates. GSD1b is an extremely rare genetic disease in which the body is missing an enzyme to convert glycogen into glucose. A normal liver converts glycogen to glucose to provide energy during periods of fasting. Because the body is missing this enzyme people with GSD1b are at risk for hypoglycemia (low blood sugar) and if not maintained on a very strict diet and scheduled doses of corn starch feedings they are at risk for seizures, coma, and potentially death. She requires corn starch every 4 hours even throughout the night. The scary reality is that we are one missed or faulty alarm away from a possible disaster. GSD1b also causes neutropenia which is a low white blood cell count and makes her more susceptible to infections and impairs her ability to fight infection. The current treatment for neutropenia in GSD1b is a daily injection of the drug filgrastim (a neutrophil growth factor). For Sophie, administering the drug requires a daily injection. Because her liver is not functioning normally, she is also at risk of developing liver tumors and certain intestinal illness later in life. Although treatment is very antiquated and there is no cure today, we have very good reason to believe better treatment and a cure are achievable. We know the science and technology exists and we believe by getting organized and bringing collaboration and strong voice we can bring major advancements to GSD1b. Thank you for joining us on this journey!
