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Four-year-old girl has rare neurological disorder

REXFORD On the surface, four-year-old Hannah Sames is like most other children her age. She enjoys singing, dancing and playing outdoors. However, Hannah is facing a rare neurological disorder that could eventually rob her of her freedom to enjoy ordinary, everyday activities. Hannah suffers from giant axonal neuropathy, also known as GAN, an inherited condition involving dysfunction of a specific type of protein in her bodys nerve cells. While the disorder generally appears in early childhood, it is slow in its progression. It wasnt until Hannah reached her third birthday that her family became suspicious something was wrong. It was previously noticed Hannah had developed an inward arch in her left foot, though that was initially shrugged off as it didnt seem to have any residual effects on her ability to walk, said Hannahs aunt, Carrie Favaro, Saranac. We had a grandmother who walked like that so we werent really all that concerned, but by her third birthday, her other arch was involved, her gait was awkward, and shed fall down a lot, said Favaro. Those were the kinds of the things that tipped us off that something was wrong. Hannahs mother and father, Lori and Matt Sames, who are originally from the Plattsburgh area, took her to a pediatrician for a physical examination, but were told that was simply how Hannah walks. Not satisfied with the simple explanation, Hannahs parents proceeded to schedule appointments with orthopedists and pediatric neurologists and geneticists. After more than a year of visiting different specialists, said Favaro, Hannah was diagnosed with GAN on March 24,at Columbia Presbyterian University in New York City. The diagnosis, however, has been half the battle. Once it was realized what was affecting Hannahs mobility, it was then a question of what could be done to treat the condition and, ultimately, what could be done to cure her. Unfortunately, GAN is such a rare condition, Hannahs family came up against a wall when they learned there hasnt been much in the way of information about treatments, let alone finding a cure. Theres very little they can try now because there arent really any treatments, said Favaro. Other than physical therapy and trying to keep her strength and her muscle tone, theres not a whole lot that can be done at this time. Though Hannah does notice she has more difficulty walking than other children, said Favaro, the effects of the disorder have been limited so far. That, however, does not stop her from keeping active. At this point, her central nervous system and her mental functioning is in tact, Favaro said. Shes very bright; shes very intuitive. All she knows, is its harder for her to walk. Last Saturday, though, she had a dance recital and she was up there on the stage with all the other kids and she was just loving it. So, theres hope. That hope was the driving force in the creation of Hannahs Hope Fund, an organization established by Hannahs family to find both a treatment and a cure for GAN. The need for such an organization was critical, said Favaro, as no other such organization existed until that point. Were starting from the bottom up, said Favaro. Theres never been a GAN foundation, theres never been a GAN support group. In its mission, Hannahs Hope Fund will be expected to play a pivotal role in research, said Favaro. Already, the organization has begun to provide funding to Stanford University to establish a research model utilizing mice as test subjects. Its hoped what is learned there can ultimately be translated into what can be done for humans. A scientist in Boston is also working with a sample of Hannahs fibroblast a type of cell that plays a critical role in wound healing, said Favaro. The fibroblast is being exposed to FDA-approved compounds to see what, if anything, will have a positive reaction. In order to fund research, a series of fundraisers has been held since Hannahs Hope was established. The next big event in the North Country will be a dinner and silent auction next Sunday, July 20, at the Rainbow Wedding and Banquet Hall, 47 Woods Falls Road, Altona. The fundraiser will begin at 11 a.m. in the halls Gold Room. The menu will consist of roast beef or pork, tossed salad, mashed potatoes and gravy, green beans, corn, pickles, dinner roll and cake. The cost will be $20 for adults, $10 for children ages 6-12, and free for children ages 5 and younger. Music will be provided by G&B Special Effects, Glass Onion, The Bootleg Band, Elephant Bear, and The Natalie Ward Band. Tickets may be purchased by calling Favaro at 293-7643 or Hannahs grandfather, Earl Burnell, 563-5944. Were bound and determined to get a cure for Hannah and all these kids, said Favaro. We wont stop until we do. For more information about Hannahs Hope Fund, including an eight-minute video depicting Hannahs story, visit the organizations Web site. Donations may be made on the Web site through PayPal or may be mailed in care of Hannahs Hope for GAN to 19 Blue Jay Way, Rexford N.Y. 12148.

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