What is SMA?

Our daughter, Zane, was diagnosed with  Spinal Muscular Atrophy or SMA Type  I on February 19, 2009.  She was 6 weeks old.   SMA is the leading genetic killer of infants. It is a terminal, genetic disease that results in the loss of nerves in the spinal cord and the weakness of the muscles connected with those nerves. SMA impacts the ability to walk, stand, sit, eat, breathe and even swallow. The mind and spirit are no different from that of a healthy baby, but the body eventually fails. Typically,  babies with SMA Type 1 have a life expectancy between one and two years.  They require around-the-clock medical assistance and monitoring.  Zane passed away of respirtory failure due to her disease on June 18, 2009.  She was just 5 1/2 months old. 

Statistics:

• SMA is the #1 genetic killer of children under the age of 2.
• SMA is estimated to occur in nearly 1 out of every 6,000 births.
• The gene mutation that causes SMA is unknowingly carried by 1 in every 40 people or nearly 8 million Americans.
• There is currently no treatment and no cure, but 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 estimate that we are as close as only a few years away from finding a treatment and/or cure.
• Because scientists know so much about SMA, SMA is considered a “model” disease with direct impact on research into many other diseases potentially benefiting millions of people.

Did You Know?

Did you know 1 in 40 people UNKNOWINGLY carry the gene responsible for SMA – the #1 genetic killer of babies? And there is currently a simple blood test that can be done to determine if you are a carrier, yet few know to ask for it. The American College of Medical Genetics recommends that SMA carrier testing be made available to ALL couples planning a family, regardless of ethnicity or family history.