Building Hope

JAMAS LAFRENIERE ’02

by Anne O’Connor ’78

Life threw a curveball at the LaFreniere family in 2019. Their nearly two-year-old daughter, Sophie, was not well. Jamas ’02, who works in high-tech sales, and his wife, Margot, a registered nurse at the Dana-Farber Cancer Institute, pressed doctors for a diagnosis — and then they received an unimaginable one.

Sophie has glycogen storage disease type 1b (GSD1b), an ultra-rare, inherited metabolic disease also known as von Gierke disease. Her body lacks the enzyme glucose6-phosphate translocase, which means it has trouble breaking down glycogen, a stored form of sugar, into glucose, so she struggles to maintain a normal blood-sugar level. The LaFrenieres help her manage the disease via her diet and one special substance: corn starch. Every three hours during the day and every four hours at night, Sophie must drink a cornstarch slurry to prevent her blood sugar from spiking, then plummeting, which could cause seizures and permanent neurological harm. And because the disease affects her immune system, any infection is dangerous.

“Mentally and developmentally, she’s a perfect five-year-old,” Jamas said. “We don’t want her to miss out on things that other kids get to do, but it’s difficult to allow Sophie to be away from home for long periods of time.” A continuous glucose monitor will, the family hopes, help keep her safe when she enters kindergarten in the fall.

At the time of Sophie’s diagnosis, the LaFreniere family faced a lack of research into GSD1b and a cure for it. They also had little outside support and learned that there were only a handful of doctors in the country treating the disease; in fact, until the late 1980s or early ’90s, GSD1b was fatal. So, they began fundraising. They formed a nonprofit, Sophie’s Hope Foundation (sophieshopefoundation.org and cureGSD1b.org) in May 2022 and have raised more than $800,000 for research, services for families affected by GSD1b, and outreach efforts. The foundation now also has one employee to work with people recently diagnosed with the disease.

Both Jamas and Margot have run the Boston Marathon to raise awareness, scoring bibs from among those reserved for Hopkinton residents. Their annual golf tournaments raise the most money: $203,000 in 2022. Most importantly, the LaFrenieres have developed a supportive community that includes Sophie’s “amazing” big sister, seven-year-old Ali, and fellow LA alumni, who have played in the golf tournaments and been important contributors.

“By us doing this, we’re changing the trajectory of this disease,” Jamas said. “There is definitely hope.”