What Florida native Shandra Trantham dreams of most is running on a sandy beach into the ocean. "I see other people doing that and it's like a movie moment," she says. "I really want to experience that. I know I did it when I was younger but I wasn't appreciating what it felt like. I actually did have two of my friends hold my arms while I ran once, but it was really hard and it hurt."
Unless a new treatment is found, the 24-year-old may never take that exhilarating plunge again. Trantham has Friedreich's ataxia (FA), a rare genetic disease that is slowly robbing her of the ability to walk and talk, and can also affect her heart. FA is caused by an inability in the body to make frataxin, a protein that is necessary for normal cell function. To date, there is no cure and no approved treatments — but she's working on one. She's a 4th-year PhD candidate in genetics and genomics at the University of Florida Powell Gene Therapy Center. Trantham works in a lab where gene therapy for FA is being fine-tuned. The great hope is that one infusion of a synthetic gene that makes frataxin will stop progression of the disease permanently. It can't come soon enough for her.
"I'm optimistic for what science is capable of. It might be like a combination of therapies but gene therapy is the first step," Trantham says.
She has little feeling in her legs, and was getting around at home using a walker or walking with her hands on the walls to steady herself — until she fell and broke her arm. She had to use a wheelchair temporarily, and still uses a wheelchair at home. When she goes out, she drives and then uses a walker or a scooter. She sometimes has halted speech, pausing and swallowing before she can get out her words. She's proactively learning how to use a hand controls to drive so she can continue to get around when she can't use her feet.
The gene therapy study for FA is expected to begin next year, and criteria for participants has not yet been established, but Trantham can't wait to apply. "I'm not scared, I'm excited," she says. She has participated in four drug trials. One of the experimental drugs she's been taking for two years, Omaveloxolone, seems to be slowing progression of her disease at least somewhat. "This one would be way, way higher on the scale of the potential to help than anything that I've done before. I really want gene therapy."
With the limited number of study patients, she sees her participation in trials as a privilege. "It's a huge responsibility. I need to do it for everyone that can't," she says.
As both patient and researcher, Trantham is in a unique situation.
"It's really cool being among the people who are developing the treatment for my disease and being able to be in the middle of what's happening, instead of just looking from the outside," she says. "It's kind of crazy — I open the freezer and the gene therapy is right there. It's like that's the answer right there that me and other people are dying for." She knows she has to wait for study protocols and apply to participate like every other patient. "I have to separate being a patient and a researcher, doing what's important for research."
At the same time, "Being a patient actually motivates me to work faster and be more focused towards getting the answers because I know how it feels to not have any answers."
Trantham's symptoms started at age 9, which means her disease is more severe and progressing faster than it is for patients diagnosed later in life.
"I don't have a choice, I have to rush," she says. "As my disease progresses, I lose motor function, so I won't be able to write my name or speak my ideas clearly, or even just drive to school. I [will] lose the ability to move everything, basically."
The symptoms mounted in her preteen years. She couldn't walk on the balance beam at gymnastics summer camp, couldn't run a mile in PE class any more, and finally couldn't walk in a straight line. She developed scoliosis, curvature of the spine, and required surgery. But when her parents were informed of her disease when she was 12 years old, they couldn't bear to tell her. The diagnosis meant she would likely only live into her 20s or 30s.
"They thought that I would be happier not knowing my fate," she says. "But I was a pretty smart child and I knew there was something going on with me." She got on the Internet and did her own sleuthing.
"I figured it out when I was 13. I had a name and I remember being at the doctor's and I saw that same name written down on my chart so I knew that I'd figured it out," she says.
"When I was 16 my mom finally came to tell me and I was like, 'I already know,' she says. Both of her parents carry the genetic mutation though they hadn't known it — they hadn't even heard of FA until Trantham was diagnosed. Her sister is also a carrier but doesn't have the disease.
Trantham didn't tell her friends for years, and avoided school trips to amusement parks because it would involve hours of walking. "I just wouldn't go, even though I wanted to go," she says. She broke her toe falling down the stairs and started her first week of high school on crutches. "My friends just assumed I was a really clumsy person, I guess. I would fall a lot. I always had some kind of brace on for something that I did," she says. "It was upsetting because this disease was happening to me and there was nothing I could do about it."
She was determined to learn all she could about FA. She attended a medical magnet high school in Jupiter, Florida, and studied cellular and molecular biology at the University of South Florida. "I wanted to understand on a cellular level what was happening with my disease. I could have done pre-med but as a doctor you just treat the problem when there's a treatment already. I knew that I had to study something so I that I would figure out what the treatment will be," she says. She earned a BS in three years while her disease progressed.
"I knew I wanted to get everything done while I was still capable. But I also wanted to know everything as fast as I could because there are other people with my disease that are waiting for answers and I wanted to be a part of giving those answers to people," she says.
Because the FA gene therapy research is far along already, her PhD focuses instead on gene therapy for for an even rarer TECPR2 gene mutation that causes severe neurological problems in young children. Setbacks in the lab are hard to take. "It happens a lot in science where things don't go exactly as you planned them to," she says. "It affects me emotionally. I'm developing a treatment for someone else and I know how those patients feel, waiting [for a treatment]."
Dr. Barry Byrne, Director of the Powell Gene Therapy Center, says the work Trantham is doing on TECPR2 will inform gene therapy research for FA as well. Byrne, who first met Trantham when she was a study participant, gives her high marks for working tirelessly while fighting severe fatigue. "Many patients find just their day exhausting," he says. "And then to come back the next day and do it all over again is something I think people in the group admire."
Byrne noticed it was hard for Trantham to use the walker and still have her hands available to work, so he arranged for her to get a LifeGlider, a walking aid that includes a strap around her waist so she can stand hands-free. He also gave her a lab bench at desk height so she could work while seated, and, to solve the problem of lack of coordination in her hands and arms, he arranged for her to have a personal lab assistant who conducts the experiments that she designs. Still, he says, "Certainly without her movement problems, I think things would go faster for her. But she's been very patient."
If she is allowed in the gene therapy study initially, or even at a later stage, she says it won't interfere with her role as a researcher. "It will just be a continuation of how it already is. I'm in their observational study, so there's a piece of my leg muscle in the freezer – where I work," she says with a giggle.
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