HAVERHILL — The doctors told her at 19 she’d be in a wheelchair by 25 and dead by 35.
Now 63, Jean Walsh is still here — still gardening, still writing, and still pushing legislation through Congress if it means helping sick children who are fighting the same battle.
Walsh is a longtime Haverhill resident who lives with Friedreich’s ataxia, or FA, a rare, inherited and degenerative disease that damages the spinal cord, peripheral nerves and the cerebellum.
According to Johns Hopkins Medicine, FA typically develops in childhood or adolescence and progressively worsens, causing a host of symptoms like difficulty walking, fatigue, loss of reflexes, slow or slurred speech, and scoliosis.
Today, she uses an electric wheelchair to get around and requires assistance from her trusty friend, Wendy, a 9-year-old golden retriever who makes for a fitting service dog.
The four-legged helper stays in close proximity, often carrying a pink squishy toy ball between her chompers, accepting pats while on duty.
With Wendy’s help, Walsh continues to defy that grim medical prognosis from more than 40 years ago.
Walsh, who was born and raised in Hamilton, said most FA patients are diagnosed at an early age, but she didn’t receive the news until she was 19.
Her sister — another FA patient — was diagnosed a decade after her. Their parents, Walsh added, were both carriers of the gene mutation that causes the rare disease.
FA is caused by mutations in the FXN gene, and because it is a recessive disease, an affected person inherits two mutated copies — one from each parent. Carriers, who have one normal and one mutated copy, do not develop symptoms.
When both parents carry a mutated FXN gene, each child has a 25% chance of developing FA as a result.
The Friedreich’s Ataxia Research Alliance, or FARA, estimates that about 1 in 100 people in the United States are carriers, but the disease only affects an estimated 5,000 people in the country and about 15,000 worldwide.
Early on, neurologists didn’t help in raising her spirits — one even told her parents that Walsh would most likely become addicted to the drugs needed to treat the disease, she said.
But the degenerative disease has always been outpaced by the fight in Walsh as she constantly advocates for the betterment of folks suffering from rare conditions like hers.
Walsh has served as an ambassador for FARA for about 16 years. She dedicates her time to helping others with FA feel less isolated and encouraging participation in fundraisers, awareness efforts and lobbying.
Once a week, she publishes from her column, “Defining Yourself,” on FreidreichsAtaxiaNews.com, where for the past two years she has shared deeply personal reflections on how the condition affects her.
“One thing I am, because I want to be, is a gardener,” she wrote in her first entry. “I love the feel of warm soil in my hands, the smell of jasmine, the beauty of a big peony bloom, and more. I’m also a Friedreich’s ataxia (FA) patient.”
Her hope is that people with FA or other rare diseases read her column and find someone they can relate to, she said.
“People with chronic disease get defined by their disease,” Walsh said. “I try to present myself in a real way as a real person.”
Walsh advocates for the return of the Rare Pediatric Disease Priority Review Voucher Program, which incentivizes drug companies to develop treatments for rare pediatric diseases by awarding a transferable voucher for expedited FDA review of a future drug.
The voucher can cut review time from about 10 months to six — a difference Walsh said “can mean life or death.”
Last year, Congress failed to pass reauthorization legislation before the deadline, but luckily, her advocacy, along with the EveryLife Foundation for Rare Diseases, sent the policy back to Washington, D.C.
“Everyone deserves a chance at a brighter future. The PRV program is a crucial step toward this reality, and its renewal is essential,” Walsh wrote last month.
“I urge Congress to vote to renew the PRV program through the Give Kids a Chance Act, which will restore hope, treatment, and dignity for families like mine.”
On Dec. 1, the U.S. House of Representatives unanimously passed the Mikaela Naylon Give Kids a Chance Act, a bill to accelerate pediatric cancer treatment, which includes the reestablishment of PRV.
Jamie Sullivan, vice president of policy at the EveryLife Foundation for Rare Diseases, said there are very few objections to the policy.
“The program doesn’t cost the government money,” Sullivan said. “It’s just been really hard to get everything across the finish line.”
Walsh said she’ll continue writing to advocate for the reauthorization, and hopes the act makes its way to the president’s desk — not just for herself, but for the kids of future generations, who are diagnosed with FA and in need of new and improved treatments, or maybe a cure.
Meanwhile, Walsh is also raising funds for a successor service dog as Wendy nears retirement. It’s time for the golden to go from being a service animal to a beloved house pet, Walsh said.
“She has helped me be independent and be a better advocate,” Walsh said. “I couldn’t have done it without her!”
Help Walsh find her new tail-wagging aid by donating at ecad1.org/jean_walsh.