Written by P. Humbargar
The month of August has been designated Spinal Muscular Atrophy Awareness Month. Many of us first became aware of this devastating condition after reading the heartrending story of Avery Canahuati, a baby girl born with the severest form of the disease, who sadly passed on April 30 at the age of 5 months. Before she died, baby Avery, with the help of her family, compiled a “bucket list” of things she wanted to do during the short time she had available. Although her time was shorter than anyone expected, her inspirational story touched hearts around the world and has done much to raise awareness about this heretofore not well-known disease.
Spinal Muscular Atrophy (SMA) is a genetic disease that causes progressive muscle degeneration and weakness, eventually leading to death. It is believed to affect between 10,000 to 25,000 children and adults in the United States. Approximately 1 in 6000 babies are born with the condition, and perhaps as many as 1 in 40 people are carriers. It is the leading genetic cause of death in infants and toddlers. To date, there is no known cure.
SMA affects muscles throughout the body, but the muscles closest to the trunk of the body are most severely affected. There can be involvement of the muscles needed for breathing and swallowing, resulting in respiratory and nutritional problems. The intellect is not affected, and it has been observed that children with SMA are often unusually bright and sociable.
The symptoms of SMA depend upon the particular form of the disease the patient has. SMA type I, also known as Werdnig-Hoffman disease, the type baby Avery had, is the most severe form. It is generally diagnosed before the baby is 6 months old – and often as early as 3 months. A child with this form of SMA is usually never able to lift her/his head and is not able to sit up unsupported. Feeding, swallowing, and breathing are difficult. Tragically, most children with SMA I die before age 2.
SMA type II and SMA type III are moderate to mild forms of the disease, and the children generally live to adulthood and can have normal life expectancies given necessary care. In these cases, physical therapy, occupational therapy, respiratory therapy, and nutritional support can do much to improve the quality and length of the patient’s life. SMA type IV, adult onset type, is less common, usually appearing after age 35 with subtle and more slowly progressing symptoms.
Although there is no cure for SMA, research and treatment have come a long way over the past few years. Work is being done with gene therapies and new ways to manage symptoms, and early clinical drug trials are now underway.
If your child or someone you know has recently been diagnosed with SMA, you are undoubtedly feeling anxious and confused about what to expect.
Families of SMA (FSMA) is a network of families, researchers and other professionals dedicated to providing support for all who are dealing with SMA and who are working to fund research that will lead to treatment and eventually a cure.
FSMA has a free booklet available online that provides detailed information about SMA, patient services, and family support. If you prefer to have a hard copy of the booklet or have any other questions, you can email the organization at firstname.lastname@example.org or call 800-866-1762.
As this is Spinal Muscular Atrophy Awareness Month, FSMA offers a number of suggestions on how people can get involved to raise awareness about SMA and help fund critical research and support. Among the possibilities:
-Reach out to your local legislators to have them proclaim August as SMA Awareness Month.
-Post their responses on your Facebook page.
-Provide information about SMA to your OB-GYN and other medical professionals. For a complete list of ways you can help, click here.