Since starting this blog, I’ve only briefly mentioned the diagnosis of two youngest sons. If you’ve spent any time with me here, you’ve read about wheelchair crashing and hospital stays, but only as they relate to our everyday life. I’ve shied away from talking too much about Spinal Muscular Atrophy, or SMA, because I didn’t want it to become the focus of this blog. But today, in honor of Spinal Muscular Atrophy Awareness Month, I wanted to share some information for those of you curious to know more. Feel free to pin, forward and share this information with anyone and everyone.
1. SMA is a motor neuron disease. People with SMA are missing a gene crucial for providing spinal motor neuron cells with a necessary protein. Without that protein voluntary muscles become weak and can atrophy. Voluntary muscles include those used for breathing and swallowing as well as the muscles used for walking, moving your head, or raising your arms. People with SMA become weaker over time, with more and more voluntary muscles being effected. The degree to which the disease progress varies widely.
2. One in 40 adults is a carrier of SMA. A child of two carriers has a one in four chance of having SMA, a 50 percent chance of being a carrier. Tony and I had three healthy children in a row before conceiving two children with SMA. We were some of the 10 million people unaware of our carrier status.
3. One in 6,000 children will be diagnosed. That’s the same odds of you being killed in a car accident.
4. Approximately 65% of those diagnosed are children with the most severe form, called SMA Type 1. Half of these children do not live to their first birthday. (Although that’s changing! See #7.) But because SMA presents itself so differently, some children with SMA Type 1 live into their teens, twenties or later. There are also Type 2, 3 and 4. People are diagnosed with a type based on the age symptoms first appear and the type of symptoms. Fulton was originally diagnosed as a strong Type 1 because he never sat independently for more than 30 seconds. (We now consider him a week Type 2.) Teddy is more of a typical Type 2; he could crawl, sit up and hit most developmental milestones for the first year of his life, except stand or walk. Even in families, SMA can present differently in siblings.
5. SMA does not affect the sensation or cognitive skills of those affected. If you tickle Fulton or Teddy’s feet they laugh. They will interact with you like any child of the same age.
6. There is so much research going on, a cure for SMA is not out of the question.
“Our most educated expectation is that with NIH [National Institutes of Health] funding of $20 to $30 million annually, an effective therapy for spinal muscular atrophy can be achieved in the near term of five years or less.”
UPDATE: There is now a treatment for SMA known as Spinraza. It has shown wonders for many kids diagnosed with SMA. Fulton and Teddy started receiving Spinraza in August of 2018 and both have seen an increase in strength and no decrease in abilities. (Visit the SMA category for updates.) Although Spinraza has not been shown effective in 100 percent of kids who’ve tried it, more drugs and treatments are in development. The next most exciting one is a gene therapy by Novartis which could get FDA approval soon (UPDATE: It did!). Because there is at least one treatment available, many states are now adding a screening for SMA to the required list of newborn tests so parents will know immediately if their child has SMA before any symptoms arise. Spinal Muscular Atrophy awareness is making these changes happen. Many Type ones treated in infancy are no longer in danger of dying at such a young age as mentioned above. Many Type twos treated in infancy have reached normal childhood milestones like walking: unheard of before Spinraza! (UPDATE: There is now a third treatment for SMA; Evrysdi. Fulton and Teddy have been on this new oral medication since October 2020. It’s amazing that less than ten years after this post was originally written, we have THREE treatments for SMA!)
7. Despite some of these sobering statistics, my boys are not dying from SMA, they are living with it, and so are many other people. This guy for instance is my idol. As I’ve said before, my normal is not your normal but I don’t spend every minute crying for the children I don’t have. I smile, play, chat and laugh with the ones I do. Fulton and Teddy don’t bemoan the fact they can’t walk, only other people do. We will gladly accept your prayers, but please, don’t mourn my children until God calls them home. If you want to know about Fulton, Teddy and our family, visit my Special Needs page.
All that said, I understand how presenting the horror of SMA and all the young lives lost can motivate people to donate time and money towards research. Thankfully however, more charities are starting to focus on living a better life with SMA as their form of Spinal Muscular Atrophy awareness vs the dire statistics. If you want to learn more, there are many great sites including Cure SMA, The Gwendolyn Strong Foundation, and the Muscular Dystrophy Association.
Questions? Don’t hesitate to ask! Drop me an email and I’ll happily respond.