By Kassie Parisi
REXFORD — After years of uncertainty, a child living with a debilitating disease is one of a handful of kids who has a new shot at life, thanks to her parents.
Hannah Sames, 13, of Rexford, was diagnosed with an extremely rare neurological disease called giant axonal neuropathy, or GAN, in 2008. GAN appears often during early childhood and eventually leads to massive nerve death. GAN, which is so rare that it often goes either undiagnosed or misdiagnosed, destroys various nervous systems throughout the body, and eventually leads to the loss of limb control. The disease can also lead to loss of eyesight, hearing, and the sensation of touch.
Soon after her diagnosis at age 4, Hannah’s parents, Matt and Lori, founded Hannah’s Hope Fund, a charity focused on raising funds to find treatment, and an eventual cure, for GAN.
Raising awareness of GAN and the funds needed to research and treat the disease was a grueling, decade long process, one that the Sameses shouldered almost completely by themselves. There was no type of treatment available when Hannah was first diagnosed, and information about the disease itself was scarce.
But now, against the odds and millions of dollars later, Hannah’s Hope was able to gather a team of scientists
at the National Institutes of Health in Maryland that has provided a new hope for those affected by GAN in the form of gene therapy treatment.
Researchers hired by the Sameses spent years developing a gene therapy project to treat GAN. The treatment that Hannah received consisted of the injection of a healthy copy of the GAN gene, which was created in a lab, into her spine. The therapy targets the central nervous system, and while it doesn’t have the ability to re-create the nerves that were already destroyed by the disease, it stops the disease from destroying even more nerves. It isn’t a cure-all, Matt Sames said, but it’s a start.
“Our hope is that it kind of stops the progression of the disease,” he said.
The trials are taking place at the NIH, and Hannah was there a week ago with her mother for her 12-month check up after receiving treatment last summer. While she was there, doctors measured all of Hannah’s functions, including muscle strength, hand eye coordination, and swallowing reflexes.
“So far, everything seems to be improving,” her father said. Hannah can now reach out and pick up a fork to feed herself. She can also grab bottle and drink out of it, and complete a few other actions that most people take for granted.
And Hannah isn’t the only one who has been saved by the new treatment. Eight other children have received the revolutionary gene therapy as well. The Sameses have connected with around 80 families with children afflicted by GAN from all around the world, and Matt Sames said they make contact with one new family almost every month.
However, feelings of hope and progress are still new for the Sames family. Just last year, they were frustrated with their seemingly insurmountable situation. While the gene therapy had been developed, they were forced to wait to get Hannah’s treatment started, and had to wade through layers of bureaucracy, a process that Matt Sames called “infuriating.” But now, Sames described feeling astonished and elated upon watching his daughter’s progress.
“There’s no way she could do that before,” he added. “She’s a worker.”
Right now, the gene-therapy treatment is in its first phase, and the Sameses are working on continuing their fundraising efforts to get to the next phase of research. During phase two, Matt Sames said, he’s hoping that more people will get access to the treatment faster. The next treatment will work on stalling nerve death in the optic nerve, as well as the peripheral nervous system.
And for now, while she waits, Hannah is bound to a wheelchair, but she constantly works on physical therapy that helps her to grow stronger every day. And Hannah’s parents are just as dedicated to pushing forward as she is, not just for the sake of their own daughter, but for everyone else who needs help conquering GAN as well.
“It looks like it’s actually helping these kids and extending their lives,” Matt Sames said.
Visit http://www.hannahshopefund.org/ to find out more about Hannah, donating, GAN, and other children who have received treatment.