Across the country hundreds of families and businesses are getting the word out about Spinal Muscular Atrophy (SMA), a progressive, neuromuscular disease that strikes primarily children. Currently there are no viable treatment options or cure for the disease. The SMA Community, however, remains hopeful and even excited as research marches on.
SMA affects every 1 in 6,000 live births.
Approximately 1 in 40 people are carriers of the recessive gene responsible for the disease. If two carriers have children, each child has a 25% chance of having SMA, a 50% chance of being a carrier, and a 25% chance of being unaffected.
The National Institute of Health (NIH) has named SMA the #1 neurological disease (of more than 600) that is closest to a cure.
SMA causes the lower motor neurons (in the spinal cord) to degenerate and die off, leaving muscles weakened which leads to atrophy. Primarily affecting the trunk and limbs, SMA works its way to muscles involved with swallowing, talking, and ultimately breathing.
There are four basic types of SMA (+ a category known as SMARD [SMA with Respiratory Distress]). Types 1 and 2 are considered the more severe with Type 1 being the most severe of the two.
Type 1 kids are usually diagnosed between birth and 6 months of age…they never crawl, roll, or walk. Type 1 kids need extensive feeding and breathing support. Many children with Type 1 SMA do not live past their second birthday…although many have beaten those odds. SMA is considered the #1 genetic killer of young children.
Type 2 children are diagnosed between 6-18 months of age. They usually can support themselves in the sitting position but never walk. The extent of feeding and breathing support depends on the individual. Prognosis ranges from early childhood to early adulthood.
Types 3 and 4 present themselves in later childhood and adulthood respectively. These forms are much more rare than the previous two types and prognosis can be a normal lifespan.
One father of a child with SMA Type 2 believes that “Awareness is the fuel that powers progress” and hopes that many people take some time this month to learn about SMA.
“Researchers are so close to finding treatments and a cure. Advancing the treatment options and cure for SMA will help thousands of families as well as pave the way for advancements for other neurological diseases and their research efforts” states the father.
You can learn more about life with SMA by visiting Ella’s Corner at http://ellas-corner.blogspot.com
You can watch a short SMA video made by ELLAwarenss For SMA at: http://youtu.be/yae0xi9Pzas
You can take the Cure SMA Quiz (designed by ELLAwareness For SMA) [Open through August, 2012] at: