Welcome to what I am lovingly going to refer to as “Sadie* week.”
Sadie at her third birthday party last weekend, giving Mommy one of thos “get that camera out of my face” looks
See, not only is her birthday this week, but it is also the first ever National Williams Syndrome Awareness Week. And I thought this would be a perfect opportunity to get some things out.
There are so many things that I’ve wanted to write about for so long, but I’ve always had a hard time committing myself to putting those thoughts out there for all to see. Maybe I’m worried about offending someone or sounding like I’m gloating, or just sounding like a big asshole. I don’t know.
But I’ve finally decided that if I get it all out at once, maybe it will make more sense and be taken in the context in which it was intended, and not just as individual thoughts. Because the individual thoughts tend to sound a little odd sometimes.
Over the next few days, I’ll discuss her birth and early life, the diagnosis, learning to live with Williams Syndrome, my concerns for our family and my concerns for her future.
With any luck, it will provide some info for other people dealing with similar situations and maybe let people in our lives see a little more of how our life actually works.
But to start out Sadie Week, I thought I’d go easy today and just tell you guys a little bit about Williams Syndrome and Awareness Week.
Sadie, around the time we got the diagnosis (10 months)
My real life friends and family who read this blog know all about Williams Syndrome, the rare genetic disorder with which my oldest daughter (whom I call “Sadie” for privacy reasons on this blog) was diagnosed at nine months old.
But for those of you who don’t really know us, or don’t know much about Williams Syndrome, I’ll give you the basic info on this disorder. Williams Syndrome is described as a microdeletion of chromosome #7. Individuals with WS are missing one copy of about 26 genes on this chromosome. It’s different than a lot of genetic disorders in that neither of the parents carry a recessive gene or anything to cause it…it just happens. An accident, a fluke…no known cause whatsoever.
I like to think of it like this…when all of the genes were getting together for their little Sadie-making party, 26 of them were probably still messing with their hair, showed up too late, and everyone else had already left to go to the even-cooler-party in my uterus.
Most people with Williams Syndrome have a heart condition called Supravalvular Aortic Stenosis, which is a narrowing above the aortic valve. This is the most serious health concern related to WS. Thankfully, Sadie’s is very mild, and we only have to get it monitored once per year. That is not often the case, though, and many children have to have open-heart surgery in infancy, and possibly repeated times throughout their lives.
As I said, we’re very lucky that hers is mild so far…but we’re really lucky that we saw the cardiologist that we did. With Williams Syndrome being as rare as it is, her pediatrician didn’t even know anything about it. She heard a heart murmur, referred us to the cardiologist, and he saw the SVAS and told us that he suspected she had Williams Syndrome. He knew about it because he had another patient who had it. If we had not seen him–if we had not seen someone who happened to have knowledge of it–we may have never known, and we may have never gotten her all of the amazing help that she really needed.
See, her delays have never been severe enough that we would have caught on. Granted, I had suspicions, but I’ll discuss that another day…I’m trying to not be too deep this early in the week.
Anyway, the key to getting a diagnosis of a rare disorder is making more people aware that it exists. Williams Syndrome is extremely easy to diagnose…one simple genetic test can be done to confirm it. And WS also has a very particular physical profile that is fairly easy to spot.
But people just don’t know to look for it, because they’ve never heard of it.
Sadie, shortly after she was born
When Sadie was born, she weighed 4 lbs 12.5 oz, and we knew that was tiny. But they said that maybe I just have small children, which I do, but she never caught up on the growth chart. Her mouth was always hanging open just a little, and her nasal bridge never started sticking out like other kids as they got older. Her eyes were so blue, and almost looked like they had those Japanese cartoon starburst-glowy things in them. Oh, and don’t forget the cutest little upturned nose.
Yep, those were all characteristics of WS…and they’re so apparent, now when we look back at photos of her as a baby.
Williams Syndrome is also sometimes called “Elfin Faces Syndrome,” because of how much people with WS, especially children, look like little elves. I like to think that maybe they’re the original inspiration behind the whole mythology.
We joked when we first got the diagnosis that if she had to have a genetic disorder, this seemed like a pretty good one to have, primarily because of the personality profile associated with WS. Almost all individuals with WS have an extremely friendly, outgoing personality. They’re very loving, very caring and can appear to be very happy people. Many of them speak in a sing-song voice, and there are reports that people with Williams Syndrome have a higher probability than the general population of having perfect pitch or being musically gifted.
There have been several notable studies recently (whose validity I cannot speak to, since I’m not a scientist or anything) that have found that people with WS don’t have an innate racial bias, and studies that have claimed to have found a gene that relates specifically to intelligence through the study of people with WS. Some people have referred to research of Williams Syndrome as vital in the study of the human genome.
I don’t know about all that, but I do know that this is really a wonderful, amazing, fascinating and unique group of people to have the pleasure of knowing (and I’m really not just saying that because my daughter is one of them…really.)
Sadie, around 6 months old
So, since our lives have been directly effected by this disorder, and since the Williams Syndrome Association has provided us with some amazing resources over the past few years, I was inspired to help organize a local walk to raise awareness of this amazing cause.
On Saturday, May 15th, at 2PM, I’m co-hosting a Walk For Williams in Ware Shoals, South Carolina (a cute little town that is graciously donating the use of a park). Our walk will take place on the same day as about 40 other walks around the country, all in honor of the First Annual National Williams Syndrome Awareness Week.
We’re hoping to have a wonderful time, raise some money for the WSA, and most importantly, raise awareness in our community (and, indirectly, raise the probability that other children will get lucky like we did and get a diagnosis in time to get them the medical and developmental assistance they need).
We would love to have anyone who wants to come, whether they know us or not. And any donation (even 5 or 10 bucks) would be greatly appreciated (and, I’d like to note, is tax-deductible).
Please visit the Williams Syndrome Association website for more information on Williams Syndrome and the WSA’s programs.
Thank you all so much for reading all of this…you have no idea how hard it has been for me to get all of this down, and the soul-baring has barely even started.
* And please note that names are changed for privacy…sorry to be so confusing and all double-o-seven wannabe on ya.
Oh, and PS…if you didn’t catch My Mama’s guest post for Mother’s Day (and a picture of me with purple spiked hair in high school), you should really check it out.