When Isabel Maugée was 8 years old, she played loads of sports. But, she started stumbling when she ran and her parents, Eric and Caroline, started to worry. They took her to a doctor who diagnosed her as being knock-kneed.
That didn’t seem right, though, so they took her to a neurologist, who diagnosed her with a rare nervous system disease called Friedreich ataxia (FA) and suggested the entire family be tested. At age 9, her twin brother, Christian Maugée, was also diagnosed with FA.
“The doctor told me that if I didn’t have the genetic testing telling me that I have something wrong with me, they wouldn’t have known I had it,” he told TODAY. “My symptoms were almost nothing and hers were worse.”
Friedreich ataxia is a degenerative nervous system disease that impairs motor and sensory functions. There’s no cure or reliable, effective treatment for it. FA is genetic and about one in 50,000 people inherit the disease, which leaves most people affected unable to walk within 10 to 20 years. The twins are the first in their family to develop it.
Throughout their childhood, Maugée watched as Isabel had various treatments and therapies, while slowly losing her ability to walk. She uses a wheelchair and needs assistance for daily tasks, such as getting out of bed or navigating to the bathroom. As his sister’s symptoms became worse, Maugée saw how even small gestures became difficult for her.
“It might seem inconsequential to hand her a glass of water or help her eat, but that is a huge thing in her life,” he said. “It is something she wouldn’t be able to do on her own. That is really one of the things that motivates me … to have any type of help or treatment.”
Now a 20-year-old, third year student studying cellular and molecular biology at the University of South Florida, Maugée said his goal is to help his sister, himself and the many others with FA.
“I want to help cure it and other diseases like it,” he said. “I am going to work on (FA) for all the people who wish they could, but can’t. I am going to continue the fight for people who already lost.”
Maugée struggles with his fine motor skills, too, which makes writing difficult. But he still walks and take care most daily tasks without help . Lately, he’s noticed that he has been stumbling more and walking takes extra effort. Still, he pushes himself.
“I do the best things I can do to prevent myself from going to the wheelchair,” he said. “I go to the gym every day or take the stairs instead of the elevator, even though it is super hard.”
If there are no new therapies, he knows he will eventually need a wheelchair. The degenerative disease will slowly take his ability to lift his feet. But, he’s trying to delay it as long as he can. While FA impacts the body dramatically, the mind remains sharp.
“You become entrapped in your own body. This disease does not affect cognition. You are the same person you always were,” he said. “It is just very scary for me to think about it."
Although he’s only a third year student, Maugée is graduating at the end of this year and applying to graduate school. When he’s not studying, he enjoys spending time with friends, hanging out and seeing movies. This summer, he visited Tanzania for two weeks for a service project where he helped build a school, taught English and pitched in at a women’s co-op.
While he aspires to find a treatment for FA, he thinks it’s important that he enjoys life and keeps things in perspective. On November 3, he and his family will participate in Ride Ataxia to raise money for FA research.
“That is part of my fight with this disease, trying to do everything I can while I still can,” Maugée said.