SMA SCREENING IN NEWBORNS IN PA!!!

In hopes of SMA awareness month, I am righting this to get Pennsylvania to pass SMA Screening at birth of a child. Sma is the #1 genetic killer in infants, infants that have this disease don't usually don't live pass 2 years of age. Sma stands for 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. It is the number one genetic cause of death for infants. SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1).SMA affects approximately 1 in 11,000 babies, and about 1 in every 50 Americans is a genetic carrier. SMA can affect any race or gender.

There are four primary types of SMA—I, II, III, and IV—based on age of onset and highest physical milestone achieved.

Individuals with SMA have difficulty performing the basic functions of life, like breathing and swallowing. However, SMA does not affect a person’s ability to think, learn, and build relationships with others.

There’s great reason for hope. Thanks to the dedication of our community and the ingenuity of our researchers, we now have the first-ever approved treatment that targets the underlying genetics of SMA. But our work is not done. We know what we need to do to develop and deliver effective therapies. And we’re on the verge of further breakthroughs that will continue to change the course of SMA for everyone affected—from infants to adults—and eventually lead to a cure. But if babies and infants were able to get tested right after delivery for SMA it could save them from using their functions because they would be able to start spinraza right away! There is hope for this disease and so many medical trials going on for this genetic disease! If this can get approved to be a mandatory screening at birth it can save lifes! Please help me get this to congress and help me save parents from going through what happened to me, if they tested my Mason at birth we would've known he had SMA from the start but it's not offered or mandatory to test infants for this disease, my sweet Mason died at 5 months of age from this disease on March 13, 2017 we didn't know he had it until he was 4 1/2 months old. Until all the signs and symptoms were there! Please sign this so another parent doesn't have to go through what I had to go through a month after he was diagnosed