A friend of mine recently said to me “I know you want to build awareness for SMA, but what is it that you want people to know?” I thought this was a VERY good question with a not so short answer, but here it is:
First – We want people to know the disease exists. SMA = Spinal Muscular Atrophy.
– Most people have never heard of Spinal Muscular Atrophy, including medical professionals (We certainly had not). We want everyone to have heard of the disease. When I say “Spinal Muscular Atrophy” I want people to say “I’ve heard of that” rather than “Gesundheit” because they think I just sneezed.
To get people’s attention we must tell them how severe the disease is
– #1 Genetic killer of kids under 2
– 90% of the kids diagnosed with SMA Type 1 don’t live to see their second birthday
Second – HOPE ENDURES –
-Newly diagnosed families NEED to know that there are options of care that can extend the child’s life. Despite the staggering statistics there are care options that can (not always) extend the life of even the most severe cases. This care relies on the help from many machines and a specialized diet. These options may not be right for every family but every family needs to know they exist. Doctors definitely need to know these options exist. (Be sure to check out our Facebook page this month to see all the amazing kids “Dancing in the Rain”. There are so many beating the statistics. )
Third – You can be tested to see if you are a carrier of the disease.
-1 in 40 people carry the gene that causes SMA.
– If you are considering having children it is advisable to be tested. Knowledge is power.
– If anyone in your family is a carrier of SMA (even second or third cousins) your chances of being a carrier increase. If you have a first cousin that is a carrier, your odds increase to 1 in 8. (I am a carrier so I hope my cousins are paying attention.)
Fourth – There is a lot of very promising research.
-There is so much that is scientifically known about SMA that we truly believe there will be a cure!!
-Gene Therapy is the most promising research right now and should be in human clinical trial in the first half of 2013. This is very, very, exciting!!!!
Fifth – Newborn Screening
– Newborns are tested for several diseases but SMA is not one of them. It should be included. It would be beneficial to know an SMA diagnosis as early as possible. Once a cure is discovered this becomes even more critical.
So there it is (the “short” version). Now go shout it from the mountain tops!