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Awareness Needed for Spinal Muscular Atrophy

Spinal Muscular Atrophy (SMA) is the number one inherited cause of death in children under the age of two, and you probably have never heard of it. I certainly never had heard those words, until my son, Andy Butler, was diagnosed with it.

At the time of his birth, we thought that Andy was a healthy, thriving baby boy. He kicked, punched and cried like any other newborn for the first month of his life. However, when he was just seven weeks old, we noticed that his movements were getting weaker, instead of stronger.

We took him to our pediatrician, who immediately admitted Andy to the pediatric intensive care unit of the closest hospital. Andy underwent a battery of invasive, diagnostic tests to determine the cause of his symptoms, which included lack of muscle tone and movement in his limbs and fluid in his lungs. We were slowly beginning to realize that something was terribly wrong with our baby.

The doctors told us that their working diagnosis was spinal muscular atrophy (SMA). They believed that Andy had the most severe form of the disease, type 1, also called Werdnig-Hoffmann Disease. We immediately searched the Internet for this disease and found that SMA was the number one genetic killer of children under the age of two. It was every parent’s worst nightmare.

SMA is an inherited, degenerative neuromuscular disease that destroys the nerves controlling voluntary muscle movement, which affects crawling, walking, head and neck control, and even swallowing. Children with the most severe form of SMA often face quickly increasing muscle weakness, leading to paralysis and death. One in every 6,000 babies is born with the deadly disease.

Because SMA is an autosomal recessive disease, it means that both parents must be a carrier of the gene responsible for the disease, and these mutated genes must be passed onto their child. We had no idea, like the 7.5 other Americans who unknowingly carry this gene, that we had a one in four chance of having an SMA-affected child or that with one simple blood test we could have known about it.

Our fears were realized when our son’s diagnosis of SMA Type 1 was confirmed when he was nine weeks old. Over the course of the next few months and after several additional hospitalizations, SMA robbed our baby of his ability to suck, swallow and breathe. He could not hold his head up or sit unassisted. He could not move his hips, legs or shoulders. Andy was just 20 weeks old when his lungs gave way, and the disease took his life.

Since Andy’s death, I have become an active member of Families of SMA, a grassroots organization dedicated to supporting families affected by the disease, promoting awareness and advancing research to eradicate SMA. With over 55,000 members and supporters, FSMA has 26 chapters throughout the United States, including the local Greater Florida chapter which is based in Tampa and serves Central and North Florida.

You are reading this letter so that one more person knows about SMA. Awareness is the beginning of our campaign for change. The Florida Legislature named August 2009 as “Spinal Muscular Atrophy (SMA) Awareness Month,” and the FSMA Greater Florida Chapter has several events and initiatives in August and throughout the remainder of the year to provide education about this disease and to raise funds to help stop it.

Currently, there is no treatment or cure for SMA, but there is hope. There is landmark legislation currently before Congress that, if passed, will provide groundbreaking data for SMA and other disorders. The federal government also is considering the addition of SMA as one of the recommended diseases for newborn screening. The National Institutes of Health (NIH) and the National Institute of Neurological Disorders and Stroke (NINDS) selected SMA as the disease closest to treatment of more than 600 neurological disorders. Researchers have isolated the gene that causes the disease and estimate that a treatment and/or cure could be found in only a few years. The only obstacle that stands in the way is lack of proper funding and awareness.

To learn more about how you can help, visit Families of SMA online at www.curesma.org/greaterflorida or contact Katie Kerns, president of the Greater Florida chapter, at P.O. Box 13335 Tampa, FL 33681-1335, greaterfl@fsma.org, or 727-388-1888. We are working to help raise awareness and funding for research, education, advocacy and patient services. By increasing funding, we can help to unravel the mysteries of this disease and continue working toward effective treatments. By participating and donating, you can make a difference in a life. And, while we couldn’t save Andy, we can work together to find a cure for babies like him.

Visit the Tampa Bay Medical Directory for additional resources.