By Aliza Zaidi
Town Crier Editorial Intern
Do you know of anyone who died before the age of 2? Spinal muscular atrophy (SMA), the number one killer in children under 2, could have been the cause. One in 40 people is a carrier, and one in 6,000 live births is affected by the disease.
Although SMA has hit close to home, the majority of the community is still unaware of it. The Shively family of Los Altos Hills were “devastated” when their 3-month-old granddaughter was diagnosed. “None of us had ever heard of it (SMA),” Marge Shively said.
Linda Shively Fernandes, daughter of the Shivelys and mother of Jessica Irene Fernandes, points to a reason for the lack in awareness. “Maybe no one has heard of this disorder because famous people don’t get SMA Type 1 (severe); babies die too young to be famous. Since our little celebrity has SMA, we and hundreds of others now are painfully aware of it,” she said.
SMA covers a group of inherited disorders that destroy the nerves controlling voluntary movement and may be fatal. It cuts across barriers of age, race and gender.
Type 1 SMA or Werdnig-Hoffmann disease is found in infants between birth and 6 months. It leads to the patient being feeble. Insufficient motor development makes physical activity difficult. Children cannot sit unaided and face trouble breathing, sucking and swallowing.
Describing Jessica’s condition, Shively said, “Her facial muscles, mind and senses are not affected and a passerby might not know anything was wrong with her. However, at 6 1/2 months she has never rolled over, will never sit up or hold her head up.”
Type 2 is diagnosed in infants between 7 and 18 months. Although such babies can sit unaided,
stand with support and do not suffer from feeding and swallowing difficulties, they are at an increased risk for complications from respiratory infections.
Type 3 or Kugelberg-Welander disease is the mildest form of childhood-onset SMA. It is diagnosed between 18 months and adulthood. People suffering from the disorder can stand up, but eventually due to frailty they are confined to a wheelchair.
Type 4 or adult-onset SMA, which strikes above the age of 35, has an insidious onset and slow progression.
Another form of SMA, adult onset X-linked SMA, Kennedy’s syndrome or bulbo-spinal muscular atrophy, begins in the hands, feet and tongue and slowly spreads to other areas of the body. It affects only men, although 50 percent of women are carriers.
The physical handicaps of SMA patients are obvious, but the disorder does not target sensation or intellect. Usually, patients are bright and gregarious.
“When Jessica was born she was every parent’s dream, a healthy baby. That dream was shattered three months later, after much anxiety and many doctors’ visits and tests, when we received the devastating news that she had SMA Type 1,” Shively Fernandes said.
Families of SMA, established in 1984, is a non-profit volunteer organization with a single goal - the eradication of SMA. Their determination branches out into promotion and support for research, embracing families coping with SMA and educating the public and professional communities on the disorder.
FSMA relies heavily on donations. To make a donation, to order Direction (quarterly journal) or for more information, call (800) 886-1762 or logon to www.fsma.org.
