{SQT} Seven Things You Should Know About SMA

 

Since starting this blog, I’ve only briefly mentioned the disease that afflicts my 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 this isn’t a blog about SMA. But today, in honor of Spinal Atrophy Awareness Month, I wanted to share some information with those of you who only know me through the computer screen. Heck, some of this info might even be new to those of you fortunate enough to spend personal time with me. Feel free to pin, forward and share this information with anyone and everyone.

7. 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.

6. 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.

5. 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. But because SMA presents itself so differently, some children with SMA 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.  Teddy is a Type 2; he can crawl, sit up and do most things other children his age can do, except stand or walk.

3. SMA does not affect the sensation or cognitive skills of those effected. If you tickle Fulton or Teddy’s feet they laugh. They will interact with you like any child. Fulton, like many children with SMA, is extremely bright.

2. 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.”

1. 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, his story and the wonderful fund set up by our friends to help us with everything from home and van modifications, medical equipment and co-pays click here. A video I created shortly after his diagnosis is here and touches on our devotion to Ven. Arbp. Fulton Sheen.

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. If you want to learn more, there are many great sites including Families of Spinal Muscular Atrophy, Fight SMA and the Muscular Dystrophy Association.

In conclusion, there’s really nothing quick about this post. Be sure to swing by Conversion Diary for more Quick Takes that aren’t designed to tug at your heart strings.

8 Comments

Filed under SMA

8 Responses to {SQT} Seven Things You Should Know About SMA

  1. You’re an amazing mom. Thank you for sharing this.

  2. jen

    thank you for sharing this.

  3. Red

    Always praying for you and your boys!!!!

  4. kmantoan

    Thanks ladies!

  5. Pingback: This ain’t the Lyceum : Conversion Diary

  6. MC

    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.

  7. 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.

  8. NJ Kim

    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.

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