Kyle woke up screaming for me to turn him to his other side at 0’dark-thirty early one morning. It was completely dark outside, yet he greeted me with the silliest wide-eyed massive-grin face. I was grumpy about having been woken up, but his silly-face expression lightened my mood. As I turned him, I told him, “Dude, you are a crack-up. How do you even stand yourself?” The silliness left his face as he informed me, “Momma. I can’t stand.”
Kids can be so literal that it hurts.
But it’s true: he cannot stand. He has never stood, other than in my dream once. Neither can his twin sister. I’ve talked about SMA here a little in the past, and given that our Walk N Roll to Cure SMA is two days away I want to explain Spinal Muscular Atrophy as a disease and from the perspective of a parent of two children who have it.
SMA is a neuromuscular disease. The “atrophy” in the name indicates the degenerative nature of the condition. It’s hard to pinpoint when the twins’ strength peaked because in some ways they seem to continue to slowly get stronger, but in hind sight I think it was when they turned two. After their second birthday they both had growth spurts and their muscle and bone strength couldn’t keep up with their heavier, longer bodies. Increased strength never caught up with their increased size.
SMA primarily affects voluntary muscles (limbs), but a weak diaphragm means that the twins need a nighttime breathing machine (bi-PAP), prn nebulizer treatments, and twice daily help to clear their airway (Cough Assist). Their immune systems are as strong as any other five year old but they can’t blow their noses or cough out the crud like most of the rest of us can, so the common cold or a little congestion can put them in the hospital with pneumonia.
Since they cannot walk, the twins drive wheelchairs. Because their arms are not strong enough to push a typical manual wheelchair, they drive powered wheelchairs using a joystick in their lap. As times goes on they will lose hand strength, but their joy stick controls can be replaced with smaller versions, and eventually can be completely replaced with a high-tech eye gaze wheelchair navigation system. Nothing can stop these kids!
But that’s the future. Right now the twins are among the brightest in their kindergarten classes. They have dozens of friends and are cheerful young children with varied interests. They are learning to read and are grasping early math concepts. They have wonderful aides and therapists in their classrooms who help them with their daily tasks and routines, help them adapt the classroom pencils with larger grips for their weak hands, bring easel-type boards to them to prop up their papers to ease pressure on their elbows and to help them sit up straighter.
The twins cannot uncap a marker or squeeze a glue bottle–these are everyday activities in a kindergarten classroom–but these are tasks which their compassionate classmates fight each other to help them with! The twins are accepted for who they are within their microcosm of society, and that’s all that matters to them, or me. These are bright spots for me during times when we struggle with ill-functioning school bus lift systems, or short circuiting problems with the wheelchairs, or the seven week wait time before they can get their flu shots.
Now for the factoids:
SMA is the #1 genetic killer of children under age 2.
1 in 40 people unknowingly carry the gene for SMA. Few have any known family history of the disease.
More than 50% of babies born with SMA pass away before their 2nd birthday.
SMA affects 1 in 6,000 babies born. Worldwide there are 490,000 babies born each day overall. Statistically speaking, that’s 81 babies with the “rare disease” of SMA born each day.
The National Institutes of Health (NIH) recently selected SMA as “the disease closest to treatment”.
SMA is not contagious–it is an inherited condition and one of the 43 muscular dystrophies.
Our 7th Annual Arizona Walk N Roll to Cure SMA is upon us. Proceeds benefit the non-profit Families of SMA, which was founded in a grassroots fashion twenty years ago by families affected by SMA. FSMA promotes public awareness of the disease, aids newly diagnosed families with protocol of care publications and local networking opportunities, holds educational conferences to educate medical professionals on how to care for patients with this rare condition, and funds cure-focused and treatment-focused research programs. I serve on the board of the Arizona Chapter of FSMA. We walk in Scottsdale on Sunday. You can arrive at 10am and register ($25) at that time if you like. Or if my story or my children or the cause move you to donate, you can support Team Double Trouble via this link through the end of November.
I know that as parents all we want is to see our children grow and thrive, and we know how lucky we are that we have these sweet cherubs of delight to begin with. You and I have that in common. Also what we have in common is that I haven’t finished my “get that smokin’ deal dammit or die trying” list of shopping priorities for Black Friday next week and neither have you, so go on now. Scoot scoot. Go kiss your kids, too. Extra kisses from me. xoxo
p.s. Did anyone’s Black Friday list last year include the Fijit Friend disaster? LAME. The commercials had my oldest BEGGING for that thing and she literally spent 6 minutes “playing” with it before declaring “this isn’t what I thought it would be. Can I ask for something else?” Yeah, sorry kid. Welcome to real life. Parents, do not be fooled!