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.
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.
You’re an amazing mom. Thank you for sharing this.
thank you for sharing this.
Always praying for you and your boys!!!!
Thanks ladies!
I always worry about the etiquette of commenting on slightly older posts, but I’m catching up thanks to Conversion Diary. I really wanted to thank you for your comment about how your boys don’t bemoan the fact that they can’t walk, only other people do– I have mild cerebral palsy, and every time someone looks at me with pity for the fact that I walk slowly and with a limp, it’s a real struggle to explain to them that I’m not suffering, I’m living. Thank you for providing witness to that, and to how vital sibling support is for kids with disabilities, even as you still struggle yourself. I’ll keep you and your family in my prayers.
Like the above commenter, here I am on an old post. I just “met” you and already think we should get together! We have 2 children LIVING with cystic fibrosis (out of 7) and it’s nice to meet folks who have their babies with that 1:4 chance.
I, like the last commenter, have just “met” you and am catching up on old posts. I just wanted to say that my sister has a form of muscular dystrophy that often goes undiagnosed. She tires easily, and runs like an olympic-walker. I can’t think the name of it at the moment. As a kid, she went to the MDA’s summer camp every year. That is where she met her future husband, who has a form more similar to your boys’ (it could be SMA, I’m not sure. With so many different neuromuscular diseases, it’s hard for me to keep straight who’s got what) They attended college together, law school together, got married, and have a beautiful daughter. He works as a defense attorney, visiting jail and managing wins in the courtroom, all from his electronic wheelchair. She works as an attorney and a free-lance photographer. If MDA still has summer camp available, I highly recommend it – besides finding her husband, she found so many people who could relate to her struggles, and opportunities to participate without standing out. God bless MDA, and those families living with one of the neuromuscular diseases.
I’ve always wondered what was going on, but felt awkward asking. Thanks for sharing the facts. My husband was reading your blog recently and asked me if I knew why your two youngest are in wheelchairs. Thanks for sharing this. Both of us find your blog to be witty and smart and we love your attitude. And your Attitude, if you know what I mean.