Williams Syndrome Support Group

I'm no doctor, but I would guess that your son does not have Wiliams Syndrome. I like a lot of people look like they have WS, but don't. 75% of people with WS are metally retarded (IQ of below 80). Only 5% of people with WS have normal intelligence (IQ between 80 and 120, and with in this I would guess most are closer to 80). The other 20% have boarderline intellectual functioning. Other major markers of WS is a heart condition called SVAS. Also, most people with WS (95%) have dental issues. I am just trying to think of things that you might be able to easily identifiy. Of could all kids are different and the only sure way is with a FISH test. Eighter way, this group and the Williams Syndrome Assocation are for people with WS OR people who have WS like symoptoms. So, we are here for you either way. Take care and good luck. Jessica (Norah's mom)

Thank you, Jessica. (Norah's picture - I assume - is adorable!)

I've been looking into this quite extensively over the past couple days, and have found that there are just as many similarities with my son and Williams as there are differences. Enough so, that sometimes I think it could very well be possible. If not full Williams, at least partial. I plan to ask his pediatrician her opinion at his next check-up.

Do you (or anyone else) know much about partial Williams?

Thanks again!! I'm glad I found you guys. :)

I don't know much about partial Williams, but I have heard of it. From what I understood, they have deleation in the same area of chromosome 7, but they have less than the typical ~20 genes missing. I've heard these people do not have the out going personality that is associated with WS (though I have a good friend that has 'full' WS who is on the shy side, eveyone is so different!) Of course WS or not you can only treat sysmptoms anyway. But, I suppose there is some comfort in having a lable. Good luck.

Thank you, again, Jessica.

You mentioned treating the symptoms, having a label... As far as the symptoms go, they are so much like NLD that there would really be no change from our norm there. What concerns me, and ultimately why I'm trying to find out for sure, is if indeed he would have some of the medical issues, if not now, in the future.

Thank you so very much for trying to help me out. God's best and Blessings to you and your family.

If you are concerned, ask to have your son's heart and kidneys checked, to be sure they are healthy. My Annie doesn't have a firm diagnosis of WS becauses I'm not willing to make her have her blood drawn, but she has a mal-formed heart valve, and kidney cysts (neither is the typical WS problem with those organs), so we have her checked every few years with an ECG, and do blood work to check her kidney function. The heart valve is apparent to the pediatrician by listening with a stethoscope, and the kidney cysts showed up on an MRI we had done to check for scoliosis).

Personaltiy cues you could look for are strong interest in music, very socially adept, very loving, prefers interacting with adults instead of peers.

I agree with Jessica, that you treat the symptoms (making sure that you look for all the possible heart/kidney problems just in case), and go from there. I've noticed by looking at the variations of the kids in the group, that there is a wide difference in ability and developmental rates, so you have to go year by year, and address things as they come up. It is nice to have a diagnosis, for educational reasons especially, and I'm sure NLD is working out. Of course you are welcome in this group, and might find lots of help.

Best wishes to you and your family. Lisa

Lisa,

Thank you so much for your response. :)

Maybe it would be more helpful for me to be a little more forthcoming about the other traits my son has that are similar to Williams.

You mentioned the personality. He has always been a charmer. Adults love him, and he wants to be friends with everyone - even people who aren't very nice. His peers tend to take to him right away, but after awhile they reject him. We say he's "socially oblivious." He doesn't read body language or pick up on vocal inflections (the NLD). We have often referred to him as "the happiest kid on the planet."

As for music, my husband and I are both musicians and music teachers. Our son has had an affinity for jazz from the beginning, though as of yet he doesn't know how to play an instrument and has trouble controlling his voice to stay on pitch. He's 10.

I appreciate your saying that the heart valve problem would be picked up by a stethoscope. So far, there has never been any question concerning his heart at a regular check-up. As I said, I am mainly interested in finding out for sure if Williams is involved because of the health issues. Everything else blends with the NLD and , as such, is already being addressed.

Thank you, Lisa, for sharing your story with me, and for your help.

God bless. :)

Hello again. I just wanted to give a bit of an update. At our son's last pediatrician's appointment, I asked about Williams Syndrome. The doctor (who has been his doctor for 9 years now) looked at our son - really looked at him - and I could almost see a lightbulb slowly lighting over her head. She admitted that she never even thought of it before, but since I mentioned it, she thought it was "a legitimate concern." I have brought up other things with her in the past which she has immediately shot down, so I was a bit surprised when she actually entertained my question at all. Our son is now scheduled for an ECHO and a genetics test. Is there anything we should know about for these two events? Is there anything we should ask while we're there? As always, any advice would be appreciated.

I hope everyone is having a wonderful summer so far! :)

Hello, Everyone. I just wanted to give an update. My son is in the process of genetic testing. Williams Syndrome has been ruled out. So far, a duplication on chromosome 2 has been found. We've not been able to talk with the doctors yet, since all the testing isn't finished.

Since I know now that my son does not have WS, I am leaving this online group. Thank you to everyone who replied, and I send my best wishes to everyone. God bless All. :)