On a small, purple trampoline in her living room, 4-year-old Hannah Sames bounces so high her blond Shirley Temple ringlets spring up and down on her head.
Sometimes she holds her doll Jessica as she jumps, or hauls her good-natured dog, Ginger, up on the trampoline. Ginger refuses to bounce, but Hannah has enough energy for both of them.
The trampoline and even Hannah’s signature curls hold deeper meaning for the Sames family of Rexford, whose lives were turned inside out seven weeks ago when Hannah was diagnosed with giant axonal neuropathy, an extremely rare genetic disorder that causes progressive, irreversible damage to nerve cells, and is known to be fatal.
It is classified an “orphan disease” because it affects fewer than 200,000 people a year and hasn’t been adopted by the pharmaceutical industry because the financial rewards for manufacturing new medications to treat it are so small.
Its symptoms surface in early childhood as healthy nerve function breaks down, resulting in difficulty moving and diminishing sensation in the arms or legs. As the disease progresses, it robs sensation, coordination and strength in the limbs and can impair hearing and vision.
In later stages, the brain and central nervous system deteriorate, causing difficulty breathing and swallowing, as well as a gradual decline in body movement and function. The life expectancy is usually 7 to 20 years, although there have been people who have lived longer. There are as few as 50 children diagnosed with the disease annually, although there may be more afflicted who are undiagnosed.
Hannah’s curly hair is one of the trademark characteristics of the disease, and the trampoline is part of her physical therapy regimen to strengthen her legs and help her continue walking without assistance. She was also recently fitted with plastic supports — decorated with purple butterflies — worn below her knees.
For Hannah, the first symptom was a change in her gait, as she began rolling her feet rather than using her heels and toes. Unraveling the mystery of her sudden halting footsteps was a process that took nearly a year, bringing parents Lori and Matt Sames to discover a new sense of purpose for their own lives as they refused to become immobilized by their daughter’s bleak prognosis.
“I kept asking the doctors to check for autoimmune diseases, and, at one point, I prayed it would be multiple sclerosis or muscular dystrophy because they had treatments,” Lori Sames said Monday in the family’s toy-strewn living room. “Then a doctor in Albany got this huge, thick textbook down from a shelf and opened it to a page, and I was staring at a child who looked exactly like Hannah with her high forehead and kinky curls and skinny legs.”
A string of tests, including a spinal tap and biopsies of her skin, muscles and nerves, confirmed the diagnosis.
“You’re living this nice, simple, happy-go-lucky life, and then suddenly it all changes,” Lori Sames said. “It’s surreal to us that there’s no cure for this, and that there’s no treatment is unfathomable. It’s a whole different life now.”
For the benefit of Hannah and her older sisters, Madison, 9, and Reagan, 6, Matt and Lori Sames went to work researching the disease.
“We scoured the earth for information,” Matt Sames said. “We literally didn’t sleep for days as we searched the Internet. We found families in Canada, Scotland, New Zealand and other places whose children have the disease. It’s so rarely seen, most doctors have never heard of it, and these kids are getting multiple surgeries on their legs to try and restore function, and the surgeries aren’t doing any good at all.”
“We all cry when we talk,” Lori Sames said about phone calls to other families with a child afflicted with the illness. “The bond we feel is immediate, and although it’s something tragic bringing us together, they’re so thankful for the contact and knowing [that] we’re not going to stand still for a minute. We have a greater calling in life now; finding a treatment is our purpose in life and this will be our legacy.”
Heartened by contacts they made with people, including a family in Florida whose two older sons, now in their 20s, are living with GAN, the Sameses sifted through mountains of research to find someone working on a treatment or cure for the disease.
“Here’s the thing; they told us if she had a genetic disorder, it could take a year or more to locate what it is, and for some diseases, they don’t even know where to find it in the genetic makeup,” Lori Sames said. “But they know where this is, a mutated recessive gene both Matt and I carry, and that there was a 25 percent chance of our children inheriting it, and so it’s a disease that can be traced back to its origin. That’s a sizable bit of information.”
The couple located scientist Dr. Yanmin Yangat at Stanford University, who had successfully implanted mice with the genes causing the nerve destruction but ran out of funds for her project, halting her research in 2006.
“The first step is identifying the gene that mutates to cause it, then mimicking human symptoms in mice, and then translating the findings into a targeted treatment,” said Lori Sames, who has a background with a health care company and now rattles off medical terms like a second language. “Our disease is at the perfect point in research where it can all turn a corner and we can help all these kids and their families.”
Matt and Lori founded Hannah’s Hope, applying for official nonprofit, tax-exempt status to accept donations. Yangat’s annual research budget is $310,000, and the couple wants to raise enough money to fund her work for one or more years. Monday, they sent their first check of $32,000 to Stanford.
“We haven’t even announced our efforts publicly until this interview, so these donations are only from family and friends, but we knew we had to talk to our daughters first before we got word out into the community,” Matt Sames said.
Hannah, who also loves Barbie Dolls and the New York Yankees, attends preschool three afternoons a week and has play dates with her neighborhood friends, is doted on by her sisters.
“It’s never occurred to Hannah that she’s different in any way, but our oldest daughter knew something was wrong before we even sat down and talked with her,” Matt Sames said. “She knew we weren’t sleeping and always on the phone or the computer. But we told her we’re working to find something that will make their sister better.”
Lori Sames admitted Mother’s Day was bittersweet this year.
“I’d give anything to go back to last Mother’s Day before this hit us, but there’s no time to feel sorry for ourselves,” Lori Sames said. “Someone has to be the first cured, and it’s going to be Hannah.”