Recently, ABC's 20/20 aired a segment on Williams Syndrome. It was short- only about 20 minutes- definitely not long enough to delve into the complexity of WS, but it offered an overview. I'm happy to see WS getting attention in the news... so few people have heard of this condition. Interestingly enough, the incidence of WS is now estimated at 1/7500. Ten, maybe fifteen years ago is was estimated at 1/20,000. This is because of increased awareness. I have heard of individuals being diagnosed much later in childhood- even in adulthood. Typically, these are the individuals with mild (or no) heart disease. I've heard of parents watching a segment like this and recognizing that their child has the same constellation of symptoms. I met a mom whose daughter was not diagnosed until age 3. Her little girl had terrible feeding issues, poor weight gain, developmental delays and she knew that something was up and yet the doctors dismissed this as maternal anxiety (why do mothers always get blamed?!). When they finally received the Williams diagnosis and all the puzzle pieces started to fit together, she felt a sense of tremendous relief. I'm grateful that Bridger's phenomenal cardiologist recognized, when he was just 5 days old, that his heart defects were likely due to WS. I'm also forever grateful to the geneticist and genetics counselor we saw when Bridger was 7 days old. They were certain that he did have WS (he had a blood test to confirm later on) and they were so kind and so helpful and I often think of what an incredible job they did. They discussed at length the medical and developmental challenges related to WS and despite the laundry list of issues faced by WS individuals, I left that genetics clinic feeling at peace with the diagnosis. I think that this is because these women know and adore many WS individuals- they left us with the sense that while Bridger will face many challenges, he will be an overwhelmingly bright light in our lives and in the lives of many others.
Back in May, Becket, Bridger, and I headed down to Littleton for the WSA walk (pictures above, Bridger and I are on the far right). There was a great turnout, despite the fact that the weather was cold and rainy. There were about 15 or so individuals with WS, mostly small kids. It was wild to be around a group of people who look SO much like Bridger... Rock calls this his "tribe". It was a great time and I met some wonderful parents and kids. From the pictures above, you can see a Dad with a tiny baby in the back row- they came down from Wyoming and this baby was only a few weeks old and about 4.5 lbs! So props to them for making it out. I've mentioned this before, but the WSA is such an amazing organization. We are planning to head out to Boston next summer for the national conference (held once every 2 years).
In other exciting news, Bridger is mobile! He's been working on crawling for a couple of months and about 2 weeks ago he took off. It's hard to believe that he's 10 months old. He's still a peanut and we've been trying to give him high-calories foods...his weight gain has picked up a bit so I think we are on the right track. He's on a med for reflux and it seems to have made a difference in his appetite. For the first time his calcium level was high (a common WS issue) and we have watch the calcium content of his food pretty carefully. Challenging, especially when many high calories foods are high in calcium. Heart wise, everything is stable. He still has pretty significant branch pulmonary artery stenosis, BUT it's not worsening. Sleep wise, we are as sleep deprived as ever... I have to wonder if the high calcium level is playing a part (it can cause irritibility) but we are struggling through the nights and coffee has proven to be one of my most faithful companions during the day.
If you missed the 20/20 episode, check it out here: www.abcnews.go.com/Health/friendly-extreme-meet-kids-adults-williams-syndrome/story?id=13795416
Also, a recently released documentary about WS: www.embraceablemovie.com
And last, but not least, check out this amazing blog written by a mom of a little girl with WS who also happens to be a high school Anatomy and Physiology teacher. She offers some excellent (and easy to understand) explanations of WS and it's associated medical issues: www.understandingwilliamssyndrome.blogspot.com
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