Trip to the geneticist

Buddy celebrated his 10-month birthday with a trip to the geneticist today. The doctor wanted to go over WS with us and answer our questions. We didn't learn much new today--nothing, at least, that we hadn't already found out from our Internet searches--but we'll be visiting with the geneticist more often in the future as he monitors Buddy's development and works with us on finding research studies for Buddy to participate in.

First Steps

The intake coordinator came today to get the process started for enrolling Buddy in the First Steps program. Although he's been tracking fairly well, as least physically, the genetics doctor wanted him to get involved with early intervention services (EIS) as soon as possible so that he stays on track. The next step is an evaluation by therapists which will determine which therapies they think he should have.

FISH results

Today, the genetics doctor called to let us know that the FISH test results confirmed that Buddy has Williams Syndrome and that his calcium levels are in the normal range (meaning he doesn't have the hypercalcemia usually associated with WS).

I had read in various places that many WS parents use melatonin to help their child sleep better at night. With WS, it's not the normal child-wakes-up-once-in-awhile-at-night thing. It's that child can't settle down at night and continues to wake every few hours. For example, tonight, I put him down to bed at 8:30. At 10:30, he's still not fully asleep, although he's quieted down and isn't crying anymore. And he'll probably be awake and crying again sometime between 1 and 4 (if not several times). It's not that he can't fall asleep on his own -- he does fine during his naps. For some reason--which I haven't been able to pinpoint with all the reading I've done--WS kids just can't self-soothe very well and nighttime sleeping (or lack thereof) is a huge issue. It's difficult to explain the difference between WS sleep issues and a non-WS child who simply wakes during the night, but if you've been here during the evenings/night, you know what I'm talking about. And, quite frankly, the WS diagnosis was somewhat of a relief in this particular area because it means we haven't been doing anything wrong (at least in this area)--the issue isn't with how we've taught him to sleep (and believe me, I've tried everything to get him to sleep better at night--including seriously considering calling in a "sleep expert")--it's with him.

At any rate, I asked the doctor about giving Buddy melatonin to help him sleep better, and the doctor was fine with it. So tomorrow I go on the hunt for melatonin, hoping that it gives us all a better night's rest.

The Diagnosis

It wasn't supposed to be this way. Life, that is. Life wasn't supposed to be the way it is. Women weren't supposed to die of leukemia when their children were three years old. Couples weren't supposed to struggle with infertility. Grandmas weren't supposed to slowly succumb to Alzheimers. Little girls weren't supposed to be born with an extra chromosome.

And little boys weren't supposed to be born with 26 genes deleted from the long arm of their seventh chromosome. Life wasn't supposed to be this way--full of death, disease, and suffering. Life was supposed to be full of . . . well . . . life. That's the way God originally made it--a "very good" creation, He called it. And yet here we are, living in a creation groaning under the weight of the Curse placed on it by its Creator because of sin . . . my sin, your sin, the sin of all mankind. It's not pretty, the effects of this sin.

 

In January, when we found out Buddy had the supravalvular aortic stenosis (SVAS), the cardiologist mentioned that it was usually associated with Williams Syndrome, and he wanted us to have Buddy undergo genetic testing. Since then, several of his other doctors have mentioned the association between aortic stenosis and Williams Syndrome, however, I didn't really think anything of it -- they didn't make it sound like it was serious, and I never bothered to google it and find out what it was.

Last week, the genetics office called to set up an appointment. That appointment was today. Today we found out that Kieran has Williams Syndrome. In some ways, this changes everything. In some ways, it changes nothing.

The diagnosis explains so many things--his "failure to thrive," the frustrations with his eating (or lack thereof), the delayed sleeping-through-the-night, why he doesn't really look like either of us, the SVAS, the kidney reflux . . . . At this point, the doctor wasn't able to determine what level of mental disability K would have, but assumed it would be in the mild to moderate zone, rather than severe. He was encouraging that Kieran would be able to live on his own in the future, although he'll probably need help with things like keeping track of his finances. And the doctor has referred us to the state physical therapy program so that we can keep him on track (or as close as possible) developmentally.

We'll have more doctor visits with the geneticist (and all the other doctors Buddy has been seeing) in the future. We'll just take it one thing at a time and see how Buddy develops. God is good--all the time.