This. This is SMA.
Kyle just turned four. He adores baseball, golf, soccer, tennis, football, boxing, and hockey. He thinks he can play these sports when he “gets bigger”. He will get bigger as he grows older, but he will never stand. He won’t play these sports, at least not how he imagines he will. And we are the ones who have to tell him that. He is in a wheelchair. Cognitively, he is advanced but he has never rolled, held his head up while laying on his tummy, or is able to bear weight on his legs.
Last week, he told the O.R. staff at the hospital that he can’t wait until he gets older and he can stand. His surgeons and nurses amicably nodded their heads. Who’s to tell a little kid that he’ll never stand? Not our doctors. He happened to be in the O.R. to have his Achilles tendon completely sliced through so that his feet won’t turn out. So even though this procedure will relieve pain he feels in his ankles and feet on a daily basis, it means that even if a cure for SMA was announced two hours later, he can never stand on his own.
And we have Lauren. She is Kyle’s fraternal twin sister. She also has SMA–and a sense of humor. She is hilarious. She sings nursery rhymes and Disney show tunes. She can speak “Dora Spanish”. She loves to eat melon, any kind of melon. And chocolate chip waffles. She wants to be a veterinarian when she grows up, just like Barbie. She also wants to ride a bike and ice skate “when my legs get longer”. We get to be the ones to explain to her that no matter how long her legs get, she won’t be able to do those things. But she is special–besides driving her own power wheelchair, she can do things that other four-year olds can’t, like competitively play Connect 4. She wants to go to Disney World and be a princess, and her favorite Disney character is Daisy Duck (awesome!). She can’t crawl, turn over, lift up her head while on her tummy, or walk. She is in the 3rd percentile for her age, and her g-tube surgery is scheduled for next week. She struggles to hold herself upright in her highchair, so her scoliosis surgical consult is scheduled for next month.
SMA stands for Spinal Muscular Atrophy. From the moment of conception, my twins’ motor neurons weren’t right. They were born crying and altogether pretty pissed off (fluorescent lighting made them look sort of bad, I don’t blame them), but many newborns with SMA are born silent–these are the SMA Type 1’s. They struggle to breathe, struggle to move at all. Mother Nature, and evolution, are screaming at them to scream! when they’re born, but they are thrust into our world still struggling to take any sort of breath. Breathing requires muscles and motor neurons that do what they’re supposed to do. Those babies don’t tend to last long. Sometimes they die before Mom & Dad even get the bloodwork back with their SMA diagnosis. Other times, their parents are faced with life-and-death care decisions before their child can even have her first mall portrait taken.
Still other times, SMA babies seem completely typical until 6 months old, or 12 months, or two years. It’s the “atrophy” in Spinal Muscular Atrophy that makes the parent suspicious that maybe there’s a problem–these are the SMA type 2’s and 3’s (Kyle and Lauren are type 2). Even then, the prognosis is grim. Children born with SMA (non-type 1’s) can live until their teens, and in some cases even beyond their teens.
What lames the one causes the death of another. They’re all missing the same motor neuron. There is no prejudice with SMA. And there is no cure. But if there was (but if there was!), the thing that cures the one can cure them all. The National Institutes of Health categorizes SMA as a disease closest to a cure.
If only. I’m running out of time here. I can only manage the symptoms and side effects of neuromuscular disease for so long. They just turned 4 years old. I’ve explained to them dozens of times that they will never walk. Their legs are too weak. These are not conversations I enjoy, or conversations that I can’t wait to blog about. I hate it. I hate this disease. But if it weren’t my kids, it could be yours. It will happen to somebody. To many somebodies.
SMA is one of 40+ muscular dystrophies. 1 in 40 of us are carriers for SMA. There is a screening test to determine whether or not you are a carrier. You can ask for the test, before or after you become pregnant.
I haven’t worked since just after my twins were born. I left my cubicle career to schedule and keep up with regular appointments with the neurologist, pulmonologists, orthopedic surgeons, gastroenterologist, dietitians, orthotics clinic, wheelchair clinic, home health, and surgeons. I never managed to find the time to become PMI certified when my office was a cubicle, but given my experiences sitting in waiting room after waiting room, I bet I’d ace it. I could teach volumes about “scope creep”. I would give all my Six Sigma certifications, and more, to not know what I know about children and terminal disease.
If I ever come across as funny to you, please know that I do so over the beeps and whirrs of feeding tubes and pulse oximeters. That I could get away for four days to visit BlogHer was entirely due to the village here which supports us and keeps us sane on the rare occasion when I can leave these kids.
SMA is life changing–not just for its direct victims, but for their parents and families. We are exactly like you. In fact, many of us had typical healthy children before we ever needed to know about SMA.
I can’t speak for every family with a wheelchair, but this family welcomes conversation and questions. And please–converse, and ask. In our small community up here in North Phoenix, many of you already have, and we appreciate your interest and attention.
That’s all. I just wanted to tell you that. August is SMA Awareness Month. If you didn’t know what SMA was ten minutes ago, you know now. It’s all about the kids. See The Gwendolyn Strong Foundation and Families of SMA for more information.