In retrospect, Hopkinton residents Jamas and Margot LaFreniere say, they are among the lucky ones — despite the fact that their 3-year-old daughter has an extremely rare and life-threatening genetic disease.
They were able to discover that Sophie has glycogen storage disease (GSD) through blood testing rather than finding her in the midst of a medical emergency, a scary situation other families have encountered.
They have been able to manage Sophie’s care — which requires her ingesting cornstarch every four hours, even during the night, and frequent testing — and avoid any serious medical episodes.
And they have been able to raise money to fund research into finding better treatment and, ideally, a cure.
“We’re like, jeez, there’s a lot of events that we look back on and we’re actually thankful,” said Jamas (pronounced Jay-mas). “It could have been a lot different. We find ourselves kind of fortunate how it happened. It wasn’t some horrific thing. We didn’t find her unresponsive. There was nothing really bad in that sense, which tends to be how a lot of people find out.”
The family knew early on that Sophie had food allergies, so she was frequently getting her blood tested. When one of her blood tests showed some abnormalities, medical professionals were able to pinpoint the cause relatively quickly.
“From when we thought something might be wrong to a diagnosis was only three months,” Jamas said. “It was very stressful and we were obviously very worried, but to diagnose a rare disease that quickly, we find ourselves pretty fortunate that we were able to get to that. There’s people still searching for answers when it comes to rare diseases.
“I think it was a combination of good doctors and my wife, who is a nurse, being so persistent. She was adamant that we get to the bottom of this, something didn’t seem right. And we did.”
Sophie was diagnosed in September of 2019, “and from there it was a lot of fact-finding,” Jamas said. “It’s an incredibly rare disease. GSD has many different types. Sophie is diagnosed with Type 1B, which, unfortunately, is kind of the most complex of them — a rare variant of a rare disease. GSD is about 1 in 100,000, and GSD Type 1B is one in a million. It’s a very rare disease, and not many people know how to handle it. And there hasn’t been really a whole lot of research or progress in treatment.”
The LaFrenieres learned that they needed to give their daughter a cornstarch mixture every four hours in order to maintain the proper levels of blood sugar. This means they must get up in the middle of the night to ensure she gets the dose.
“If we were to be an hour late or sleep through an alarm, there’s a very high risk of seizures because of hypoglycemia,” Jamas explained. “So that can cause — I don’t like to say it, but obviously it’s resulted in death before for many GSD kids. So for us, we live by the alarm. We get up even through the night, and every four hours she gets a dose of cornstarch.
“It sounds like such a weird way to treat someone, with a bottle of cornstarch that you use as a gravy thickener. But it’s a complex carbohydrate that just slowly releases energy, which is what she needs in her body, especially through the night to kind of maintain steady blood sugar levels. Before it was discovered that cornstarch could do that, it was not a very survivable disease.”
Meanwhile, with her regular meals and snacks Sophie can only have minimal amounts of sugar. She also needs to keep carbohydrates low and protein high.
“You don’t realize how much sugar is in fruits and even vegetables, potatoes — things you wouldn’t think would have natural sugars, we have to avoid,” Jamas said. “For breakfast we’re aways trying to get her older sister to eat fruit. For Sophie she’s limited to like one strawberry.”
Sophie also requires constant monitoring of her blood sugar levels, and she recently was approved for a continuous glucose monitor, meaning the family no longer will have to prick her finger to draw blood every four hours.
Taking care of Sophie has been something that has required help from the entire family. Both of Sophie’s grandmothers visit to help when Margot is out working her job as a nurse at Dana-Farber Cancer Institute. And big sister Alison, who is 5, helps prepare Sophie’s cornstarch mixture and will keep her company while she drinks it.
“Ali is very helpful,” Jamas said. “She knows Sophie can’t eat sugar, that there’s dietary restrictions. Kids pick up on those things. Ali is wise beyond her years, in a good way.”
The pandemic has added a new set of challenges. In addition to GSD, Sophie has neutropenia — low white blood cells — which puts her at a very high risk for infections and viruses.
“Basically her body’s first line of defense is very weak, which can obviously lead to major complications,” Jamas said. “It’s kind of how we’ve lived all the time, super careful, but with COVID we’ve obviously had to be really careful. The first few months with COVID were very, very stressful. The timing couldn’t have been worse.”
Despite the pandemic, the LaFrenieres were able to raise more than $100,000 for the Sophie’s Hope Foundation in 2020, due in large part to a charity golf tournament at Hopkinton Country Club in October. The organization is planning a number of virtual and live events in 2021.
According to Jamas, there is more research for GSD Type 1A, the more common form of the disease, but support for Type 1B is lacking. The foundation (sophieshopefoundation.org) has set a goal of raising $150,000 this year, money that will go toward fulfilling grant-based research projects.
“There’s 7,000 rare diseases out there, there’s so many. And they don’t get cured on their own,” Jamas said. “It’s always a parent or a group of parents or somebody that’s affected by the disease that drives the change. From the day Sophie was diagnosed, obviously priority one was and always will be caring for Sophie and making sure she’s healthy, and we’re doing everything there. But we’re spending a ton of time and resources on the research side as well, and trying to push science, because we know it’s there and it can be done. It’s always a matter of money to get it done.”
In the meantime, the family will continue to maintain a positive outlook while caring for Sophie. In fact, she has led the way in demonstrating the right approach.
“Her attitude is incredible,” Jamas said. “I think it affects Margot and I more right now, just the lack of sleep and the stress and all those things. For Sophie, it is who she is, and she is incredibly resilient and optimistic and happy and funny — all the things you would expect out of a 3-year-old. There’s something with these kids, they’re programmed a little bit differently to just be resilient and bounce back from everything.”