When Sophia was 4 months old, her parents, Andrea and Doug, noticed that she seemed to have difficulty lifting her head. They started asking questions and taking her to doctors. Soon afterward, Sophia was diagnosed with Type 1 spinal muscular atrophy (SMA) — the most devastating form of the condition.
A neuromuscular disease, SMA affects the voluntary muscles used in such activities as crawling, walking, controlling the head and neck, and swallowing. Approximately one in 6,000 babies has the condition; about one in 40 people carries the genetic mutation that can cause the disease. SMA is progressive; it’s also currently untreatable and incurable. Eighty percent of children who have Type 1 SMA die before their second birthday.
“After her diagnosis, some of the doctors we met treated it like an end,” Andrea recalls. “They implied we should just go home and make her comfortable, because there was nothing we could do.”
Instead, the family began researching clinical trials and getting involved in support groups. In 2004, they went to a conference for families of children with SMA. “It changed our lives,” says Andrea. “We discovered a whole generation of kids with SMA Type I who were using non-invasive protocol to manage their condition, and these kids are thriving." They connected with a doctor there who was doing clinical trials in Utah and began traveling there so Sophia could take part in the trials. That fall, Gillette pediatric neurologist Steven Smith, M.D., began participating in the trials with patients at Gillette.
“Gillette is becoming a one-stop place for families facing SMA,” says Andrea. “It’s incredibly difficult to get the resources and care you need.” Children with SMA often need neurological, orthopaedic, pulmonary and rehabilitation care, in addition to orthotics, seating, wheelchairs and more.
“Coming to one place that helps you get you what you need is important,” Andrea says. “When you think about what we’re dealing with, it’s surprisingly wonderful how pleasant our trips to Gillette are.”
The family encourages people who would like to learn more about SMA to visit www.fsma.org or www.SMAsupport.com.
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