The statistic is—1 in 40 people carry the gene that causes Spinal Muscular Atrophy (SMA). That means that more than seven million Americans are carriers of disease that most people have never heard about.
One in 40 may seem like a big number, but it became very small when it touched our family.
I learned about SMA when my eldest son Josef (JoeJoe) was not reaching his gross motor milestones. I took him to numerous doctor’s visits and finally after a year of advocacy and gruesome testing. We got the diagnosis—SMA.
Coincidentally, I was also about 20 weeks pregnant at the time, I had requested an amniocentesis and then we got those results— SMA. So within a two week period we found out we had not only one, but two children with this devastating disease.
SMA is the leading genetic killer of children under the age of two. SMA is a degenerative disease that affects the voluntary muscles. Those that survive face a life watching as their muscles slowly fail leaving them unable to walk, crawl, sit-up or even swallow.
It is a recessive disease—two parents who are both carriers of the gene that causes SMA have a one in four chance of passing the disease on to a child. SMA crosses all racial, ethnic, religious and gender boundaries and while it is primarily diagnosed in children it can affect people of any age.
But, there is hope. The National Institute of the Health (NIH) has named SMA as the neurologic disease closest to a cure.
Families of SMA, the Muscular Dystrophy Association (MDA), and few other organizations are funding drug development programs and clinical trials which means a treatment is on the horizon.
The federal government is considering the addition of SMA as one of the recommended diseases for newborn screening. You are reading this letter so that one more person knows about SMA. Awareness is the beginning.
Sometimes it takes celebrities or government officials to bring a disease from the shadows out into the light.
We are pleased to announce that on Monday, Aug. 6 our caring Mayor Weissman and the Culver City city council proclaimed August as Spinal Muscular Atrophy (SMA) Awareness Month. Please join us in our fight against this devastating disease.
To learn more about our family’s story, please tune in to the MDA Show of Strength on KTLA 5, Sunday, Sep. 2 from 8 to 11 p.m. To learn how you can help, contact Families of SMA at 800-886-1762 or on the web www.CureSMA.org.
You can make a difference in a life. Together we will find a cure!
Thank you,
The Stoop Family
(Joe, Jessica, Ali, JoeJoe and Dominik)
