What is SMA
Our daughter, Sophia has Spinal Muscular Atrophy or SMA Type 1. There are several types of SMA called subtypes, Type 1,2,3, and 4. Each of the subtypes is based on the severity of the disorder and the age at which symptoms begin. SMA is the leading genetic killer of children under the age of two. It is a terminal, degenerative disease, that takes away a child’s ability to walk, stand, sit, eat, breathe and even swallow. It is usually inherited as an autosomal recessive trait (a person must get the defective gene from both parents to be affected).
SMA type I, also known as severe infantile SMA or Werdnig Hoffmann disease, is the most aggressive form, and manifests in the first year of life. It is also the only type which comes with a terminal diagnosis. This type generally onsets quickly and unexpectedly after birth.
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.
1 in 40 people are carriers for SMA.
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.
Currently there is a simple blood test that couples can get to see if they are a carriers for SMA. Not all doctors will automatically perform this simple blood test when a woman becomes pregnant but you can request it.