© 2022 All Rights reserved WUSF
News, Jazz, NPR
Play Live Radio
Next Up:
0:00
0:00
Available On Air Stations

Two UF students are working to end their rare disease, Friedreich’s Ataxia

 Shandra Trantham (left), and siblings Isabel Maugee (middle) and Christian Maugee became friends because of their neuromuscular disorder Friedreich’s Ataxia.
Shandra Trantham
Shandra Trantham (left), and siblings Isabel Maugee (middle) and Christian Maugee became friends because of their neuromuscular disorder Friedreich’s Ataxia.

Friedreich’s Ataxia, which causes muscle weakness and a loss of balance and coordination, affects one in 50,000 Americans. Symptoms begin showing between ages 5 and 15.

Christian Maugee, 22, and Shandra Trantham, 24, dreamed of finding a cure for the neuromuscular disorder Friedreich’s Ataxia, or FA, since they found out they were diagnosed.

Maugee and Trantham both have the disease that affects one in 50,000 people in the United States. According to Johns Hopkins HealthCare, symptoms begin showing between ages 5 and 15. The disease causes muscle weakness and a loss of balance and coordination.

FA causes many challenges for Maugee. The disease doesn’t change his mental capacities, but his body struggles to follow physical commands and complete daily tasks, and he has had issues with seeing contrast colors in his vision.

Maugee said that while he enjoys his current education at the University of Florida the stress from school has exacerbated the disease’s negative effects.

In Friedreich Ataxia, we have a lot of cellular stress to begin with because of our disease state,” he said. “So if you add in stress caused by school as well it sort of magnifies that.”

The stress has led Maugee to now having to use a walker when he walks to his car and goes up and down stairs. He said he was able to walk independently at the beginning of his Ph.D. program a year ago, although now he is reliant on the walker.

This is also the case for Trantham. She said she lost the ability to walk independently and has been using a walker since 2018.

Maugee and Trantham met when they were both in their undergraduate years at the University of South Florida.

Trantham, now a fourth-year Ph.D. student at UF, met Maugee in the disability office at USF.

Trantham was working on receiving accommodations at the disability resource center for a class when a worker at the office said something that shocked her: Another student with the same disability has recently visited.

The two are such good friends Trantham considers Maugee to be like a sibling to her. They’re even roommates this year at UF. “We’re very understanding of each other,” she said. “I feel like I don’t have to explain anything to him. He gets everything, and then I get everything that was going on with him. It’s a cool situation.”

Their shared diagnosis of FA led them to both want to explore neurological disorders in their higher education.

Trantham knew she wanted to study the disease since she was diagnosed in seventh grade. When it came time to look into what high school she wanted to go to, she decided on a science magnet school so she could begin learning about the human body.

As part of her Ph.D. program, Trantham specializes in studying genetics and genomics.

Her thesis advisor, Barry Byrne, said Trantham’s perseverance is one of the qualities she’s had to possess since being diagnosed with FA.

“She has a curiosity that really contributes to her success as a graduate student,” Byrne said. “She has a great understanding of all of the complexity of the problems she’s working on.”

Maugee is also a doctoral student in the genetics and genomics program at the University of Florida. Research for neurological disorders is his focus since the University of Florida doesn’t offer a program dedicated to FA.

The research at Maugee’s lab focuses on mice models of neurological diseases like ALS. He said his biggest accomplishment yet is passing the first year qualifying exam. Only seven people are in his highly selective program.

Maugee said due to COVID-19 the spots were very limited for labs, so he was unable to get a laboratory spot for FA research.

“Hopefully I want to work on Friedreich Ataxia,” he said. “That’s my end goal. So wherever it may be, I just would like to work on that because that’s really why I joined this Ph.D. program was to work on my own disease.”

More than a decade after being diagnosed, Maugee continues to not let his diagnosis weigh him down.

Christian said one of the reasons he decided to start the Ph.D. program was because of the quote “Treat everything to the best of your ability despite your disability.”

Maugee’s mother, Caroline Maugee, 51, said she’s been raising awareness and donations since she heard the news of her son’s diagnosis.

“This is also a disorder that robs them of energy,” she said. “So let’s say you’ve been running around, you did your workout, you did everything you had to do, and you’re finally laying down in bed completely exhausted. That’s how they wake up in the morning.”

Trantham and Maugee are both hopeful that one day FA will have a cure.

I think there’s a lot of really exciting approaches out there to try to treat the disease. And so I think in the future, there’s going to be a combination of different therapies,” Trantham said. “I’m really optimistic that FA will be treatable in the future.”

Copyright 2022 Health News Florida

Alexis Carson - WUFT
WUSF 89.7 depends on donors for the funding it takes to provide you the most trusted source of news and information here in town, across our state, and around the world. Support WUSF now by giving monthly, or make a one-time donation online.