By Meaghan Casey
Thirty years ago, Jean Walsh was diagnosed with Friedreich’s ataxia (FA)—a debilitating, life-shortening, degenerative neuro-muscular disorder. There was little understanding of the disease at the time, and no promise for a cure. Today, a number of Massachusetts biotech companies, such as Voyager Therapeutics, are giving patients like Walsh hope.
“When I was diagnosed, doctors thought vitamin E might help,” said Walsh. “Today, there’s such great progress.”
About one in 50,000 people in the U.S. have Friedreich’s ataxia. Onset of symptoms can vary from childhood to adulthood. Childhood onset of FA is usually between the ages of 5 and 15 and tends to be associated with a more rapid progression.
Walsh was diagnosed at age 19, but her symptoms began about three years before that. Symptoms include loss of coordination in the arms and legs, fatigue and muscle loss, vision impairment, hearing loss, slurred speech, scoliosis, an enlarged heart and diabetes mellitus.
“At first, you lose your coordination and it just looks like you’re a klutz,” said Walsh. “I’ve even been accused of being intoxicated, which is a common misunderstanding for those of us with FA.”
Walsh began using a walker at age 33 and a wheelchair at age 44. For her, the diagnosis was upsetting and confusing early on, but it is one she has learned to accept.
“I was depressed about it at first, but then I decided I could be happy with or without Friedreich’s ataxia,” said Walsh. “I chose to be happy. While disease and disability do not run my life, they are facts of my life. And to me, they have given me opportunities to be strong and give back in ways I might not have otherwise.”
Walsh has been married for 19 years. She is in her final year at Boston University, earning her master’s degree in social work. She holds another master’s in community social psychology from UMass Lowell. She completed her undergraduate work at UMass Amherst and worked as a grant writer for a number of years. She is also an active member of the Friedreich’s Ataxia Research Alliance (FARA)—a national, organization dedicated to the pursuit of scientific research leading to treatments and a cure for FA.
For the past three years, Walsh has volunteered as a member of the FARA Ambassador Program, representing the FA community by blogging, speaking at events, meeting with potential donors or scientific groups and participating in other awareness and fundraising opportunities.
“Talking and getting to know other people with FA has been a wonderful experience,” she said.
Before FARA, which was founded in 1998, Walsh said there were no other organizations to turn to for support. Her younger sister, Tricia, also diagnosed with FA, became the only person with whom she could share experiences. Tricia was diagnosed at age 24, 11 years after Walsh.
“We can at least talk about it together and lean on each other,” said Walsh.
Last year, through her involvement with FARA, Walsh attended the ribbon cutting for Voyager Therapeutics. The Cambridge-based gene therapy company was founded in February 2014 to develop life-changing treatments for fatal and debilitating diseases of the central nervous system. In the case of FA, patients have a genetic mutation in the FXN gene, which limits the production of the protein frataxin. Voyager’s goal is to deliver a functional version of the FXN gene to targeted cells in the central nervous system, increase levels of frataxin and have a meaningful impact on the progression of the disease. The company is still in the pre-clinical phase.
“FARA has done a wonderful job cultivating a network, establishing a patient registry and making it appealing for the industry to work on a cure for FA,” said Walsh.
In addition to Voyager, other local companies such as RaNA Therapeutics and Pfizer are working on therapies to increase levels of frataxin.
“It’s huge,” said Walsh. “Even if treatment doesn’t happen for me—which it might—there are so many other people it could help. Earlier this year, I met an 8-year-old with FA who was already using a walker. To think he might not have to live his life that way is beyond exciting.”