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Thursday, August 11, 2011

This is SMA.

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 (that means smart) (I only clarify that because even I wouldn't have known what that meant until years ago when someone told me that he is cognitively advanced).  This week, he told the O.R. staff at the hospital that he can't wait until he gets older and he can stand.  He happened to be in the O.R. to have his Achilles tendon completely sliced through so that his feet won't turn out.  This means that even if a cure for SMA was announced two hours later, he can never stand on his own.

This is SMA.  

This is 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.  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, but 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 later this month.  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 (the 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.  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 they 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.  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) sometimes 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.

SMA is one of many muscular dystrophies.  1 in 40 of us are carriers.  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 career to schedule and keep up with regular appointments with the neurologist, pulmonologist, orthopedic surgeon, gastroenterologist, dietitian, 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 experience sitting in waiting room after waiting room, 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.

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.  If there was ever an ideal Project Manager, it's the parent of a medically fragile child.

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.  Ask me anything.  I've heard it before, and assuming you are not personally attacking my children, I won't take offense.  I'd be happy.  Not bothering to ask means that we're being ignored, and my children will not be ignored.  Ask away, I'm thrilled to explain.  I rarely get asked questions, other than "how fast does his wheelchair go?".  (5.2mph.)  Ask me.  I'll tell you.


  1. Cass, this is such a powerful post---and such a tremendous testimony to your incredible twins and their MAMA. You---and they---are inspirational.

    Tell me this piece is in the hands of the FighterMom group...

    Here's hoping and praying for advances, miracles, and many, many years of beautiful Kyle and Lauren smiles.

  2. Hello! I just came across your blog-- I hit the "next blog" link on top of my blog to see what came up. I've never done that before and am quite amazed that I happened to find a blog that is seemingly about a subject I know about.

    First of all, your children are adorable! Secondly, I was immediately surprised to find a blog about muscular atrophy--my high school best friend had this, too. I see many of the same features in your cuties as I do in her! Just to let you know, she is now 35 years old and a totally kick ass filmmaker in Canada!

    Can I add you to my blog roll? Maybe you'd like to check us out, too?