SVAS

One of the distinguishing characteristics of Williams syndrome is SVAS -- supravalvular aortic stenosis. If you can decipher the medical terminology, you'll learn that SVAS consists of a narrowing of the aorta just above the valve that lets blood leave the heart.

Because they are missing the gene that codes for the protein elastin, which gives skin and blood vessels elasticity, most people with WS have SVAS to some degree. It can range from mild, requiring no intervention, to severe, requiring open-heart surgery to remove the narrowed portion of the aorta. And it can worsen or get better over time, which means constant monitoring by a cardiologist -- every three months, every six months, every year, depending on the situation.

SVAS is so connected to WS that it's often used to diagnose WS. When Buddy was first diagnosed with a heart murmur at two months by his pediatrician, we were sent to children's hospital for an echocardiogram. The result was that he had SVAS and the cardiologist mentioned that it may indicate he had WS. I asked if that might explain his failure-to-thrive and sleep problems, and the cardiologist replied, "It might." Because he seemed so nonchalant about it (although looking back, I can see that there was concern on his face about how we might take the news), I didn't give WS another thought . . . until Buddy was actually diagnosed with it several months later.

Although it's not the only medical condition common to those with Williams syndrome, it can be one of the more life-threatening. Buddy's has stayed in the "mild" range and, after his most recent echocardiogram, he was cleared to return in a year. Although I know that God is sovereign and gives His grace freely whenever we need it, I feel a certain apprehension in the weeks and days leading up to the visit with the cardiologist. Will the SVAS have progressed from mild to moderate to severe? Will he need surgery? And there's a sigh of relief that I breathe after each visit when he's given the "all clear until next time."

Through connecting to other families of those with WS on Facebook, I've found the same feelings are shared by other parents. When a positive results are returned on an echocardiogram, everyone feels the weight lifted and rejoices. And when a non-desirable outcome is given, everyone feels that kick in the gut and commiserates. Just today, one mom reported that her daughter -- close in age to Buddy-- had an echo that showed her SVAS had progressed to a near-moderate level. Surgery could be in their near future. And another boy -- 19 years old -- had open-heart surgery to correct his SVAS.

While we're praying for both of these friends, I'm reminded that being a parent of a child with special needs isn't something that we signed up for but that God is sovereign and always good. There are no guarantees of good health in this sin-cursed world, but He gives His grace daily, as we need it, and brings glory to Himself through the situations He brings our way.