Williams syndrome anyone?

[purplepaisleymama]

Our youngest dd has always been a challenge.... it has taken a year to convince our doctors that something is really different about her. We have gotten a dx of mild CP (from the Pediatric Ortho) and a dx of Dyspraxia ( from the Pediatric Neuro).  In her case I think both dx mean the same thing, she is clumsy and has some physical issues that do not seem to be normal.  The mri showed what the radiologist and Ortho determined to be PVL ( damage to the white matter) and the Neuro interpreted as late myelination.

I have thought that something was different about our dd's features since the first time I looked at her.  She was a homebirth and I caught her.  I lifted her to my chest, looked into her eyes and thought to myself.... she has a genetic issue.  My dh said the same thing to me within a few minutes of her birth, he is usually the kind of person who waits for evidence, he will tell me that I might be overreacting and that I need to relax.... he said to me that her eyes and nose looked different... her ears looked different. We compared her to her older siblings and though she did look similar there were some very prominent difference ( to us).  I mentioned it to the midwives and they said she looked perfect.  I mentioned it to the ped and he said she was perfect.  After a few days I persisted and I was given a referral .  She has never nursed like my other children and still cannot handle liquid well.

I thought that she looked like she had features similar to DS.  We went to the geneticist when she was 8 weeks old. After a long discussion where the dr said that dd had no real features that she would be concerned with she agreed to test the 21st and 22nd chromosomes.  When the Dr had to fill out the paperwork to send to the lab and insurance company she had to list reasons for the test.... she said that our dd did have a few features that would qualify as dysmorphic and named them: wide set eyes, low nasal bridge, long philitrum, ears that were not even and shaped differently ( not sure what the name was).  She did not write that dd has epicanthal folds though she does have them. Three weeks pass and the Dr calls and says that everything came back fine. We can call for an appointment at any time if we want but she is fine.

Fast forward a year and we now have a dx that explains our dd's low tone and some of her issues.  The Ped Ortho says that her tone is off, that he hasn't seen a kid with CP have low tone like her and still have the walking issues she has. Her achilles is tightening a bit but not really in the way CP does.  She has intense balance issues, she walks like a drunk person and can trip over nothing. Her physical issues are there but are minor compared to the sensory stuff we are dealing with.  The Ortho said that we may be dealing with a genetic issue as well, when we asked if we should return to the geneticist to test he agreed that he would.... it can't really hurt to have more information.

  We have lived in a hell for the past year.... our dd is not happy very often and when she is it is short lived.The only way that we can make her happy at all is music.... it makes our dd a different child. She has a few favorite songs and they are what buy us happy.  We can play music all day (classical, bluegrass, pop and classic rock) and she will be happy, if we shut it off we are dealing with a screaming mess of toddler. I cannot explain what music does for her but it is profound.... she is truly moved by music. 

After reading and researching I came across Williams syndrome it really seems to be a possibility.  The only issues are that she hasn't had any heart issues picked up ( though she is so combative when examined they can't really listen to her heart at all....when we had the MRI she was so hard to get a bp on they gave her sedation before getting an accurate reading. She also seems to have little cognitive delays, though without her speaking it is hard to judge what she really is getting . 

The geneticist did the same thing as the first appt, she said that dd didn't have any features that would suggest issues and then put the same ones down on the paper.  She sent the whole microarray out, testing for all the most common genetic issues. I just don't know what to think..... I know that it is just a matter of time before we get the results but I am wondering if anyone had similar experiences.... the not having blatant features or heart issues and still having Williams...

Thanks to anyone who made it through ;)

~laura

[ShellyF]

Hi - I'm using my phone to respond so this will be brief, but yes, sounds much like Williams Syndrome. Actually WS is pretty great once it's addressed properly. Tell your geneticist you need a FISH test so they can look for the deletion of genes on chromosome 7. Also get blood tested - could have elevated levels of calcium that make her uncomfortable. There are heart issues but one is mild and repairs with age (I suppose could have been missed by dr.) The music is the tell tale sign that she has WS. Our babies cry alot and only music works- I have 4 kids but could not soothe the youngest, only music could.

No matter what her issues, she sounds like she should start early interventions immediately. I hope it's available in your area. Physical therapy, occupational therapy, speech, teaching, and music are all therapies you should ask for through your county- you don't need a diagnosis to get that started, and sooner is always better.

It gets soooooon much better. Therapy is the best, and after the early years, the delays aren't so significant, but the loving happy little faces are. Keep your chin up!

[ShellyF]

Hi - I'm using my phone to respond so this will be brief, but yes, sounds much like Williams Syndrome. Actually WS is pretty great once it's addressed properly. Tell your geneticist you need a FISH test so they can look for the deletion of genes on chromosome 7. Also get blood tested - could have elevated levels of calcium that make her uncomfortable. There are heart issues but one is mild and repairs with age (I suppose could have been missed by dr.) The music is the tell tale sign that she has WS. Our babies cry alot and only music works- I have 4 kids but could not soothe the youngest, only music could.

No matter what her issues, she sounds like she should start early interventions immediately. I hope it's available in your area. Physical therapy, occupational therapy, speech, teaching, and music are all therapies you should ask for through your county- you don't need a diagnosis to get that started, and sooner is always better.

It gets soooooon much better. Therapy is the best, and after the early years, the delays aren't so significant, but the loving happy little faces are. Keep your chin up!

[ShellyF]

Hi - I'm using my phone to respond so this will be brief, but yes, sounds much like Williams Syndrome. Actually WS is pretty great once it's addressed properly. Tell your geneticist you need a FISH test so they can look for the deletion of genes on chromosome 7. Also get blood tested - could have elevated levels of calcium that make her uncomfortable. There are heart issues but one is mild and repairs with age (I suppose could have been missed by dr.) The music is the tell tale sign that she has WS. Our babies cry alot and only music works- I have 4 kids but could not soothe the youngest, only music could.

No matter what her issues, she sounds like she should start early interventions immediately. I hope it's available in your area. Physical therapy, occupational therapy, speech, teaching, and music are all therapies you should ask for through your county- you don't need a diagnosis to get that started, and sooner is always better.

It gets soooooon much better. Therapy is the best, and after the early years, the delays aren't so significant, but the loving happy little faces are. Keep your chin up!

[ShellyF]

Hi - I'm using my phone to respond so this will be brief, but yes, sounds much like Williams Syndrome. Actually WS is pretty great once it's addressed properly. Tell your geneticist you need a FISH test so they can look for the deletion of genes on chromosome 7. Also get blood tested - could have elevated levels of calcium that make her uncomfortable. There are heart issues but one is mild and repairs with age (I suppose could have been missed by dr.) The music is the tell tale sign that she has WS. Our babies cry alot and only music works- I have 4 kids but could not soothe the youngest, only music could.

No matter what her issues, she sounds like she should start early interventions immediately. I hope it's available in your area. Physical therapy, occupational therapy, speech, teaching, and music are all therapies you should ask for through your county- you don't need a diagnosis to get that started, and sooner is always better.

It gets soooooon much better. Therapy is the best, and once her issues are addressed theres more sleep & less crying. And the loving happy little faces are incredibly sweet. Keep your chin up! If it's WS there's an association, parent support online/facebook, local groups, etc. Best wishes...

[ShellyF]

Hi - I'm using my phone to respond so this will be brief, but yes, sounds much like Williams Syndrome. Actually WS is pretty great once it's addressed properly. Tell your geneticist you need a FISH test so they can look for the deletion of genes on chromosome 7. Also get blood tested - could have elevated levels of calcium that make her uncomfortable. There are heart issues but one is mild and repairs with age (I suppose could have been missed by dr.) The music is the tell tale sign that she has WS. Our babies cry alot and only music works- I have 4 kids but could not soothe the youngest, only music could.

No matter what her issues, she sounds like she should start early interventions immediately. I hope it's available in your area. Physical therapy, occupational therapy, speech, teaching, and music are all therapies you should ask for through your county- you don't need a diagnosis to get that started, and sooner is always better.

It gets soooooon much better. Therapy is the best, and once her issues are addressed theres more sleep & less crying. And the loving happy little faces are incredibly sweet. Keep your chin up! If it's WS there's an association, parent support online/facebook, local groups, etc. Best wishes...

[ShellyF]

Hi - I'm using my phone to respond so this will be brief, but yes, sounds much like Williams Syndrome. Actually WS is pretty great once it's addressed properly. Tell your geneticist you need a FISH test so they can look for the deletion of genes on chromosome 7. Also get blood tested - could have elevated levels of calcium that make her uncomfortable. There are heart issues but one is mild and repairs with age (I suppose could have been missed by dr.) The music is the tell tale sign that she has WS. Our babies cry alot and only music works- I have 4 kids but could not soothe the youngest, only music could.

No matter what her issues, she sounds like she should start early interventions immediately. I hope it's available in your area. Physical therapy, occupational therapy, speech, teaching, and music are all therapies you should ask for through your county- you don't need a diagnosis to get that started, and sooner is always better.

It gets soooooon much better. Therapy is the best, and once her issues are addressed theres more sleep & less crying. And the loving happy little faces are incredibly sweet. Keep your chin up! If it's WS there's an association, parent support online/facebook, local groups, etc. Best wishes...

[mamarhu]

I agree it sounds like Williams Syndrome. Although I work with special needs kids, the only child I know with WS is the daughter of my best friend. G is one of the sweetest humans I know. Yes, she has some significant delays, and CP-like physical issues. But she is also unfailingly kind and generous. As a little kid, she was the most agreeable child I have ever met; smoothly accepting redirection when my kid argued every inch! Through high school, she sang in the glee club (music has always been her strength). Her social skills are fabulous, and she always has a large circle of good friends. When Hurricane Katrina hit, she volunteered to go on several work trips to help rebuild. Today, at 30, she has a job, is active in her church, and generally lives a full, productive life (with some supports). I don't mean to set WS up as an icon of perfection, but in many ways, I have sort of envied my friend and her child-raising experience. When I was looking to adopt special needs kids, I actively asked for a child with Williams Syndrome.

Have you ever see the essay, "Welcome to Holland"? I have no idea what your final diagnosis will be, of course. But it sounds like you will be dealing with the special needs world. Let this essay be your introduction.

http://webpages.ursinus.edu/bestbuddies/page2.html

[CrazyCatLady]

I can't tell you whether or not your child has WS.  But I can tell you about my daughter with WS.  I'll start with the bad.  She is very behind in school and struggles with it terribly.  She has done first grade twice now and is well on her way to needing to do it again.  She still has potty accidents and she is 7.  Her vision is very poor and so are her motor skills (she can't ride a bike or catch a ball for example).  She was slow to learn everything when a baby/toddler (crawling, walking, talking, etc.)  She does have a heart murmur, but it's never caused any issues so far.  Her teeth are a hot mess.  Very picky eater.  She has some behavioral health issues and hits herself, flaps her arms, spins around, etc.  Her face slightly resembles other WS faces, but not too much.  It's not noticeable unless you are looking for it.  She does have a temper, but she usually only shares it with me or those that are very close to her.  Most everyone else considers her the sweetest kid ever.

There is a ton of good about her though.  She is the sweetest, quirkiest kid ever.  People are very attracted to her and her charm and personality.  She is like a little cute elf lol.  The stuff she does know, she knows amazingly well and has since she was very young (she is great with animals, insects, and building/designing things).  She can entertain herself for hours at a time (she gets lost in her own little world).  Her vocabulary is and has always been huge!  She is incredibly skilled at ice skating and gymnastics and that makes her feel better about her motor skill issues.  She is tiny (size 4, 40 pounds), but it passes as cute.  She has tons of friends and makes them wherever she goes.  Her self-esteem is awesome, she does NOT care about her issues and she thinks she is great lol.  She has zero concept of peer pressure and is content to do everything her own way.  She also loves music and singing.  She used to be in voice and piano lessons, but she didn't have the focus to practice daily...so we quit.  But she can listen to music and dance all day long.  She can't wait to grow up and go out dancing with mommy lol. 

Sorry to ramble.  I just love my little WS girl and I feel blessed to have her.  Some days are HARD (potty accidents!), I won't lie.  But the good definitely outweighs the bad.  She is so unique and cool to know.  I hope you find some answers and some peace soon.  Best of luck to you and your little girl!

[CrazyCatLady]

Here she is.  You can "see" it, but you really can't yk?  She definitely has the elf ears though lol.  So you would not be alone in having a WS kid who doesn't exactly look the part.  *hugs*

[FarmerBeth]

Welcome to the special needs forum!

When I first started working with special needs kids, it was through my music background volunteering with some children with WD in a developmental preschool.  I have met kids with the disorder who don't look particularly different from any other child, and I know some of the kids weren't having difficulties with their heart, either.  What seems to be in common with kids with the disorder is loving music, being very friendly and sociable, usually good with words and memory, sensory issues, and they all had problems with physical coordination.  I work with one as a teacher's aide who is also a little bit obsessive the way a child on the spectrum can be, but I don't think that's across the board.  I absolutely love it when I get a chance to work with children with Williams.  They have been some of the friendliest people I've worked with, for all their struggles. You won't know without getting the test.

Hope you get some answers for your little one. 

[Adaline'sMama]

I just wanted to pop in and give a little encouragement. My brother was diagnosed with WS (he very much looks the part). He had speech delays, but when he was 4, they pretty much disappeared. He has had two surgeries to help with walking, one was his Achilles and the other was a partial hip replacement at 20 due to bone deterioration in his hip that prevented him from being able to bend at the waist or kick outwards. That problem began at the age or 9, but the surgery wasnt done until he was done growing. He has great teeth now, but had to have caps on almost all of his childhood teeth. He now stands at a height of 4'10, but he had 4 years of daily HGH shots. He has pectus excavatum (shrunken chest) , high blood pressure, and is far sighted. He has never had any heart problems.

Growing up with him was difficult, but he is extremely intelligent. He had a lot of behavioral problems. Some were due to his diagnosis, and Im sure some were due to how my mother dealt with him (she babied him and rarely allowed him to be unsupervised. He didnt have a lot of opportunity to make his own decisions) . He is very, very trusting and naive. While he has been able to function throughout his life, there have been things that were always "missed connections" so to speak. At one point he was stealing people's ipods out of their cars to listen to music. He never thought about just stealing one AND the charger so that when the battery ran down he could keep using it. When the battery ran out, he would just get another one. He was diagnosed with ADD, and medicated for it throughout school. Since he had developmental delays, he was in smaller classes with teachers that were qualified to help him learn better. He had great success with that throughout elementary and middle school, but in high school he wanted to be in regular classes. With the help of a tutor, he graduated high school with a 4.0, he went to community college for awhile, and he now lives in an apartment on his own for the first time (at 25 years old). He has come a long way, and his journey has been difficult, but all in all he is a pretty happy, functional adult.

[purplepaisleymama]

Hello All... Thanks so much for your support!  I know that it is just a matter of time until we have answers but it is nice to know that I am not completely in left field here!  When I was reading your responses I noticed that there are even more similarities between DD and the kids mentioned.  She has horrendous teeth.... first they came in the weirdest order... her top right tooth and then her bottom right tooth... then the top left tooth and then the bottom left tooth. Then the bottom eye teeth.  They are marbled... the teeth are both white and clear swirled.  The top tooth that erupted first is now chipped... I am waiting for it to just break completely.  When the geneticist looked at them she asked if we were even brushing her teeth... I told her that if she liked I could show her pictures of the teeth erupting with the discoloration.  I have never seen any kid have teeth like hers.  Her upper two front teeth are HUGE.... they are almost the same size as adult teeth, she looks like she has beaver teeth!  The geneticist included her teeth on the list of dysmorphic features.

Our DD is definitely spirited,lol!!  She is crazy at home but we hear all the time that she is so perfect in public... she is kind of shy with people who are pushy but if she warms up she is your best friend.  She has an incredible memory....she can remember everything... especially people from as far back as when she was only a few months old.  If she has any negative memories regarding someone she will not warm up to them at all... she recognizes people who she has only met a few times and will wave to them.  She does not like changes within the family though... DH shaved his goatee off the other day and she is still cross with him, he is trying to get back into her good graces but she is very particular.  I don't know if she will accept him like before until the goatee is back!

I think that she has many of the features of Williams but the geneticist disagreed... who knows?  I guess we will know in a few weeks.... I will try to post a few pics to show what I mean. 

Thanks for welcoming me... I have been reading for a long time but really only found the gumption to post just now...lol:)

[purplepaisleymama]

Well, the geneticist called on Friday and all of the testing was negative.  We are happy that there were no issues found but I am actually a bit disappointed..... I was hoping to have some answers or at least a direction to head in for what to expect. Our dd is in PT and beginning OT in a week, we are also starting ST at home ( the Speech Pathologist was actually wonderful... he was overjoyed that we are working with her at home and is a big proponent of parent led therapy)

Thank you to everyone who answered and supported me.... it is wonderful to have a place to ask questions and feel so understood.

~laura

[FarmerBeth]

I'm glad you posted back.  Sorry you don't have any answers, yet.  sometimes it can be a pretty long time to get answers, and sometimes kids just run a little behind expected development and there isn't ever a reason for why.  The good thing is that your daughter is getting lots of early help and that kids that age can change and improve so much.