Our daughters, Brielle and Brooke, have Spinal Muscular Atrophy or SMA Type II. SMA is the leading genetic killer of infants and young children. It is a terminal, degenerative 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. Typical babies with SMA Type 1 have a life expectancy of between one and two years and they require around-the-clock medical assistance and monitoring.
- SMA is the #1 genetic killer of infants and young children.
- 1 in every 40 people or nearly 10 million Americans UNKNOWINGLY carry the gene responsible for SMA — few have any known family history of SMA.
- SMA is a pan-ethnic disease and does not discriminate based on race, ethnicity, or gender
- 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? 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. A simple blood or saliva test will determine if you are a carrier of SMA. Both parents must be carriers for the baby to have the active form of SMA. 1 in every 40 people unknowingly carry the SMA gene. Visit the Claire Altman Heine Foundation for more information on carrier screening.
Thank you to the Gwendolyn Strong Foundation for the above informaion!