By Christine Sampson
Sophia Gaynor celebrated her birthday on Feb. 27 with not one but two birthday cakes, gifts from friends and loved ones and a special birthday outfit complete with fluffy tutu.
It was her first birthday, no doubt a monumental day in the life of any child and proud parent. But for Sophia, turning 1 represented something much more. Sophia is afflicted with a degenerative neurological disease called spinal muscular atrophy, and when she was diagnosed about 10 months ago, her doctors gave her little chance of making it to her first birthday.
“It was such an achievement, almost like a victory, for her to reach that point,” said Catherine Gaynor, Sophia’s mother. “She’s fighting every day. I was so proud of her. ”
Sophia can’t hold up her head, crawl, or sit up on her own. Her body lacks the gene necessary to produce the protein, which would allow her motor neurons to survive. Without that protein, the body’s motor neurons gradually die off, and one loses the use of voluntary muscles.
There are several types of SMA, but Sophia’s diagnosis – Type I – is terminal. The news shocked her parents.
“For two weeks we sat in our bedroom with our baby girl and just held on to her. We drew the shades and cried,” said Vincent Gaynor, Sophia’s father. “Something clicked in us and we said we’ve got to fight. We’ve got to save our daughter.”
Vincent and Catherine formed Sophia’s Cure, a not-for-profit foundation, with the mission of funding research for a cure for SMA. To date, they have raised over $200,000. That money is helping to fund a motor neuron replacement program at the University of California at Irvine. The Gaynors are also looking into a gene therapy program at Ohio State University.
“Our goal is to get as many of the most promising programs into the pipeline in hopes that one or a culmination of the few will have a dramatic impact on t his disease,” Vincent said, adding that the National Institute of Health has listed SMA as the neurological disease closest to a cure.
The rush of community support has been tremendous for the Gaynors, who moved to North Bellmore three years ago.
“The neighbors on our street, as soon as they heard, they were rushing over with donations and going to our fundraisers,” said Catherine, 32. “It’s a wonderful community.”
Last October, about 300 people participated in a walk-a-thon organized by Mepham High School‘s S.A.D.D. (Students Against Destructive Decisions) club. The event raised over $9,000.
“Because [Sophia] is a community member the kids wanted to do all they could to help,” said Barbara Gai, Mepham’s S.A.D.D. advisor. “This is one cause that was close to home.”
Bellmore Kiwanis Vice President Judy Mankita reported that an ongoing bracelet sale at Kennedy High School has generated close to $1,700 for Sophia’s Cure so far.
“I never saw such a spontaneous outpouring from teenagers,” Mankita said. “Whoever hears the story wants to help.”
The Gaynors, who have been married since 2006 and are expecting their second child – a boy – in August, hope to communicate to others the lessons they have learned from caring for Sophia.
To make a donation can send it to Sophia’s Cure, P.O. Box 601, North Bellmore, NY 11710, or visit www.sophiascure.com for more information.