You may remember Nicole Kutchyera, Audiologist at our north office. Nicole left for maternity leave in July, 2016 and welcomed baby Cohen in early August. At just 8 weeks old, Cohen was diagnosed with Spinal Muscular Atrophy type 1.
SMA is a genetic disease in which nerve cells of the spinal cord fail to produce a protein essential to their survival. Without this protein, nerve cells die off and muscle wastes away. SMA has been compared to an infantile onset Lou Gehrig’s Disease (ALS).
There are 4 types of SMA, type 1 being most severe. If untreated, 50% of type 1 infants will pass away before their 1st birthday, and 90% before their 2nd.
SMA is autosomal recessive and affects approximately 1 in 10,000 live births. 1 in 40 Canadians unknowingly carry the genetic mutation that causes SMA.
But we have hope!
Until very recently there was no treatment for SMA. Cohen is very lucky to be one of the first babies to receive Spinraza, a gene-modifying drug that tricks motor neurons into producing some of the missing protein.
Why are we fundraising?
Despite having a new treatment, there is still no cure for SMA. Families of SMA Canada is a parent-led organization that funds research to expand our knowledge of this debilitating disease and, eventually, develop a cure.
Any donations given will go directly to Families of SMA Canada to fund life-saving research.
Thank you for your support!