Welcome to SMA (Spinal Muscular Atrophy) Awareness Month. On the Daily Dakin, the whole of August will be dedicated to sharing info about SMA, SMARD, research and the families affected by this horrible disease. We will also be having a GIVEAWAY to help raise awareness. More to come on that.
For starters, here are a few facts about SMA.
- SMA is the leading genetic killer of children under 2.
- One in 40 people carry the gene that causes SMA.
- One in 6,000 to one in 10,000 live births are affected by SMA.
- There are 6 types of SMA—Type 1, Type 2, Type 3 and Type 4 (adult onset SMA) are all caused by mutations/deletions of the SMN gene. 5qSMA is a newly discovered form that I will see if I can get more research on (I learned about it from our neurologist). SMARD (Spinal Muscular Atrophy with Respiratory Distress--what Dakin suffers from) is extremely rare and is caused by genetic defects on the IGHMBP2 gene.
- There is very promising research on the horizon to treat and possibly cure SMA—drug trials are underway and stem cell research is extremely promising. Passage of the SMA Treatment Acceleration Act will help to bring a treatment and/or cure for SMA. If you have not, please sign the petition at http://www.petitiontocuresma.com/
- There is no one in the United States researching SMARD, and no drug trials currently underway that may help Dakin. It is for this reason that we are advocating passage of the SMA Treatment Acceleration Act—SMA research has benefited other neuromuscular diseases, and our hope is that if SMA can be cured, perhaps SMARD can be as well.
This month I hope to raise awareness of SMA. I hope that these children, their families and their stories will change you. I hope that their strength will sustain and inspire you. Though I truly wish it were under different circumstances, I am privileged to interact on a daily basis with people who have such inner strength and determination; people who have helped me with my burdens while carrying their own. People who, despite in many cases being told to take their child home and “just love them,” continue to fight. So many would just crumble under that sort of load. These parents do not. They are my inspirations. I am proud to call them friends, and truly awed to follow their children.