Spinal Muscular Atrophy Awareness Month
August is SMA Awareness Month. Many people have not heard of SMA and are not familiar with this disease, which is exactly why awareness months like this are needed. SMA (spinal muscular atrophy) is a disease that robs people of physical strength by affecting the motor nerve cells in the spinal cord, taking away the ability to walk, eat or breathe...
Some topics are so painful that they leave you shaking your head in sorrow. I have met with parents whose children have SMA and I am in awe of their courage and determination.
There is no cure for this dreadful disease, according to the renowned Cleveland Clinic. “Treatment for children affected with SMA is focused on treating their symptoms, preventing complications, and improving their quality of life,” according to the Clinic. “Your doctor will be able to determine the best treatment for your child based on the type of SMA, the severity of the condition, and his or her age.
“It is important to remember that the brains of those with spinal muscular atrophy develop normally. Many patients with SMA are highly intelligent and sociable. Talking to them, playing games, and providing other forms of mental stimulation can aid the emotional and physical lives of these children.”
And, the Orphanet Journal of Rare Diseases identified SMA as the second most common fatal autosomal recessive disorder after cystic fibrosis with an estimated incidence of 1 in 6,000 to 1 in 10,000 live births. It is also the number one genetic cause of death for infants.
We must do something to offer help and hope. This is why I’ve introduced Senate Bill No. 974. This legislation would require the screening of all newborn infants for spinal muscular atrophy.
Under this bill, the Commissioner of Health would develop a comprehensive program for follow-up services and how to proceed should a newborn test positive for one or more genetic markers identified with SMA.
Additionally, the bill would provide for genetic counseling for the parents of the newborn concerning the risk that one or both parents is a carrier of the genetic mutation associated with spinal muscular atrophy, and the risk that other children born to the parents may carry the mutation, pass it on to their offspring, or may be born with spinal muscular atrophy. It would also require information be provided concerning available treatment options for spinal muscular atrophy.
I would urge you to strongly support this legislation by contacting your Senator and Assembly member. Together we can turn this policy into a reality.
To learn more about this disease and potential genetic planning, visit https://www.mda.org/disease/spinal-muscular-atrophy.
That’s my take, what’s yours?