Williams Syndrome Support Group

It pains me to hear what you are going through. My 11 mo. old daughter was diagnosed this April, and I remember the several week waiting period to find out the results, which ended up coming back positive.

If the test does come back positive, David's Dr. should refer you to a genetic counselor to answer any questions. The genetic counselor will likely tell you to have him see cardiologist, urologist, endocrinologist, neurologist, and maybe a few other specialists. It is really overwhelming at first, but you will be strong for your son and make it though the initial evaluations.

Whatever the results are, everything will be OK. WS or not, David needs to be loved and cared for just like any other kid. He just might need a few extra doctor visits! Please feel free to talk to me any time. I would love to hear more about David. -Jessica (Norah's mom)

When my Annie was an infant, we knew there was something wrong. We signed her up for all the tests available-MRI, genetics (FISH tests were not available 15 yrs ago), vision, hearing, etc. There was a lot of pain and fear involved, and not one of the tests(except the cardiogram, which was ordered because she had a heart murmer) provided any help, except for ruling out lots of things. If you find out your son has WS, I would only administer tests that pertain to his diagnosis, and could lead to action that will benefit him. The cardiograms are critical, because you need to make sure his heart is healthy (these should be done every 2-3 years, according to the cardiologist we see here in Utah).

I wish I hadn't seen the genetics counselor. All he did was measure and poke and prod and send me home with a list of things wrong with Annie that I hadn't noticed--like her disproportionate arms and legs and odd facial features. He didn't even notice she had WS--it was me and my sister that diagnosed her, years later. Most of the testing found nothing that was of benefit for Annie, but I suppose it had to be done since we didn't know what her diagnosis was at the time. Her therapies (physical, occupational, speech) would have been prescribed anyway because of her diagnosis of developmental delay--it was obvious how to treat her symptoms even without knowing the cause of them. I think a lot of doctors order tests just because they can, not because the test results will really help their patient. I used to believe that the doctors could 'fix' her, find a cure, but instead we got lots of fabulous help, advice, guidance from therapists, nurses, teachers and others going through similar experiences. Don't be afraid of Williams Syndrome---it will probably be nice to have a name to put on your son's challenges.

I've never heard of WS treatment center. Nobody in Utah seems very familiar with the Syndrome. I think it would be really cool to talk to someone who specializes in the Syndrome. I've had to feel my way from day one. The cute parents on Dailystrength are the most expert people I've ever met on the subject. What would an endocrinologist do? And what would a urologist look for? Annie had a spinal MRI done this summer because a Dr. at Shriners' hospital noticed some spasticity in her movement, the MRI found cysts on her kidneys, which are being looked into by a nephrologist now.

I guess the more I think about it, you better do every test possible, just be aware that some of the results won't be of much use. I'm just sharing my experience, but yours is bound to be different, if only because your circumstances are different. How do people find out about treatment centers, etc.? Annie is almost 15 years old (on Sept. 8), and I am just starting to feel like I can look around for help--I'm finally out of crisis-management mode.

Annie's pediatrician has been very helpful in referring us to the right services as she has needed it, so I would recommend involving your pediatrician, if you like him/her. Our pediatrician has been the Dr. most involved in helping me make decisions, referring us to the appropriate specialists as Annie's symptoms seemed to indicate. Since we didn't have a specific diagnosis, there wasn't a program to follow, no guidelines already laid out telling us what to do.

Good luck to you and your son. It is a lot to think about, and information is your best defense. You are smart to read as much as you can. But take it step by step--there's a lot of ground to cover. Please share what you find out!

Hi again! I am just replying to the reply. I agree with lisaeckery that David will likely get a mountain of tests that likely results in a lot of negative results (maybe even this WS test!) And, WS is not something that can be cured. However, with WS is a very long list of symptoms that most people only have SOME of. All of the tests can cross off many of the possible symptoms so that you can concentrate on treating the unique way WS has affected your child. My child, for example, does not have the heart issues that many people with WS have. However, she does have hypocalcemia. Hypocalcemia can cause stomach aches (which some attribute to colic WS babies). It also can cause kidney stones. Typically, hypocalcemia goes away during infancy. However, it may linger in some into adulthood and continue to cause stomach upset. This condition can be treated with a low calcium diet. An endocrinologist can help guide you through this process, if it applies to your child. Also, a visit to an urologist can test weather you child's system has the ability to "go the wrong direction" which causes many infections and other problems with their kidneys. I like getting a lot of tests done because when I read the long list of WS symptoms I can identify that Norah doesn't have that (which is true for many of the symptoms), or that we are aware of the issue and we are doing everything we can about it.

About 7 WS clinics are in the US. It is a three day process where you child we get every test possible from experts in WS. You can take these reports, which include an evaluation and recommendations about how to best treat the symptoms, and take them to your school, PT, OT, doctors, ect and maximize the care given to you child based on an individual evaluation coupled with the most recent WS research. It is a totally overwhellming process, which some people don't even want. But being a scientist myself, I'm totally into tests and data. Let me know if you would like anymore details (I probably gave to many already!) Jessica

Waiting is the worst. You will likely be advised which direction to go by competent people after the test comes back. Just follow your gut because they don't have all of the answers. We saw a genetic counselor who was less than helpful but he did give us bits and pieces of information as well as what to expect. There is a HUGE WS community out there who can also help you. Just don't get bogged down by the extreme horror stories -- they likely will not apply to you. I don't read everything anymore for that reason. My son is generally healthy and happy with few problems thus far. You are not alone!

I know your FISH test was done a long time ago, but was just wondering what your results were.
Evie (Evan's Mom)