What is Spinal Muscular Atrophy?
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. It causes progressive weakness until the body simply cannot continue. SMA is the number one genetic cause of death for infants.
What causes SMA?
SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein that is critical to the function of the nerves that control our muscles. Without it, those nerve cells cannot properly function and eventually die, leading to debilitating and often fatal muscle weakness.
Who does it affect?
SMA affects approximately 1 in 6000 babies, and about 1 in every 40 Americans is a genetic carrier. SMA can affect any race or gender.
Kaiden DeFazio was born on March 20, 2015. At his four month checkup, his pediatrician noticed his weight was a little low. At his follow up appointment, she was extremely concerned with his development. She recommended he see a neurologist immediately.
It did not take long for the neurologist to make the diagnosis: “Kaiden has SMA. From his condition, I can almost guarantee it is Type 1 or Type 2. It is the number one genetic killer of infants, and in the worst case scenario, he may not have long to live, possibly as short as a month or two.”
Kaiden's neurologist and his team started working immediately to do all the tests needed in time for Kaiden to be part of an experimental study, which could possibly make him better or at least keep his SMA from getting worse.
As part of the double-blind study, Kaiden endured painful injections into his spinal cord with no anesthesia, and no assurance he was receiving the actual medicine. However, the study was successful. It soon became obvious he was getting the drug as he started moving his legs and arms again an unexpected development. The Study was successful and on December 23, 2016, Spinraza™ - the medicine in Kaiden’s experimental study – became the first treatment for SMA approved by the FDA. Now, when Kaiden is receiving the treatments, it is with the knowledge that there is actual medicine in his injections. He is also able to have anesthesia during the injections.
Today, Kaiden is a happy 2 year old toddler who is getting more and more mobile every day. He is currently enjoying his Panthera Micro Mini Wheelchair and loves being able to get around like other children.
While Spinraza™ is an exciting development, it is not a cure for those with SMA. It cannot reverse the effects of SMA that have already taken place, and while it works for Kaiden, it doesn’t work for everybody. There are also issues with pricing and access. But we are on the right path. More breakthroughs can happen at any time, and the Fighting For Kaiden Foundation will be among those supporting the search for a cure.