Need to Know If Anyone Has Child with Williams Syndrome

Updated on June 05, 2011
C.B. asks from Waynesville, NC
11 answers

My daughter is 13mo. old and was recently tested for williams syndrome, her pediatrician said it's the only thing she can find that matches all her symptoms. I was wanting to know if there were any moms here whose child has this & what to expect for my daughter. I've been researching on my own via internet & every website just repeats the last one. to give you a little info on her, she's been diagnosed also with failure to thrive, her weight has always been a big issue, it takes a month to get her to gain from 7oz-1lb and in a week or less she'll lose it. we finally got her up to 16lbs, she gets bi-weekly weight checks. she's on the carnation/milk, butter on everything, we give her pasta, yogart, anything packed full of calories but nothing sticks. she sees a developmental specialist on the 11th of this month. also, when she was younger she was not a happy baby, she cried alot, spit up almost a dozen times a day(almost to vomiting point), and still continues to be constipated if she doesn't eat yogart everyday. now she is VERY active and extremely verbal, she can say, mama-dada-bubba-baba, and she started pointing to objects and saying "this". her doctor says that her facial features are one of the symptoms also. we get her results back on my birthday & i don't know how much more i can wait. She has been tested for celiac disease, thyroid disease, cardiac enzymes & abnormalities, cystic fibrosis, parasites, metabolic disorders & they have all come back ok.

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So What Happened?

Her doctor called this afternoon(dec.3rd) & said her test results for Williams was neg. We go back on the 29th of this month & she said she wanted to do a "complete genetic workup" on her & that she would explain more about it at her appt. I can't thank everyone enough with all the infomation & support you all have given us, all of you wonderful ladies are a true Godsend. Thank you again.

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K.M.

answers from Indianapolis on

C.,
I don't know what williams syndrome is, but the weight
thing I understand, when my daughter was born she weighed 4'13 ozs and was 18 1/2 long. She was 2 weeks early, yes you read that right 2 weeks. Anyway she did not gain weight
very fast in fact she wasn't on the normal growth scale like
other kids, she had her own scale, but she gained weight
not like other people probably thought she should, but she
did gain, her Dr told me that she just wasn't going to be
a very big person, as her father and I are not big people either. She didn't get on the normal scale until she was
10 yrs old. The plus side to her being little longer was
I didn't have to buy clothes or shoes as often, it was great
that she didn't outgrow her clothes too fast. I don't know if
I helped you any, by the way my daughter is now almost 27
and still petite. Her ring size is a 4. I'm jealous, LOL
She also married to a great guy.

K.

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A.F.

answers from Columbus on

C. - my children don't have williams, but I have a neighbor with a daughter who does. I spoke with her this afternoon and she told me that I could give you her email address. She chats online with some other moms of children with williams.

I, too, have a child with special needs and it can feel lonely sometimes and like you have something hanging over your head. You aren't alone and even though the waiting is agony, this, too shall pass!

God bless!

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C.S.

answers from Canton on

My son had similiar symptoms, when he'd eat - his food came up like a fountain. We had to add baby cereal into his liquids to weigh them down, he could not lay down flat even as an infant for 15 mins after he ate. Then we started giving him ice cream with honey. And Pedi sure. Still weight gain was an issue and people who didn't understand what he had kept turning me into the CPS. When he died, he weighed only 60 lbs. His body was his worst enemy, robbing him of his nutitrience. Then I found "Help End Hunger Now" orgganization and they make a pudding, milkshake with all the nutrients one needs. If only they had this when my son was alive! He died at the age of 23. There is a doctor on this site, Dr. Debbie McFarland who may be able to help. She's a Chiropractor but she's real knowlegeable in other areas as well.

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E.S.

answers from Toledo on

I do not have a child with Williams myself, however my sister-in-law's sister-in-law (her husband's sister, if that's less confusing) has a 13 year old daughter with Williams syndrome. She is a charming young lady but will always need someone to take care of her. I don't think she could write her name until a couple years ago and I'm still not sure what her level is in school. I do know that she has a bit of a weight problem and that is a concern because Williams syndrome affects the heart and shortens the life span. The mother to this child isn't the most attentive and the father isn't around. She is mostly cared for by her grandmother and I'm not sure that is the best environment either. So, even though children with Williams have some issues, I think they can make progess if given the right environment and opportunity. I hope you get some answers soon!

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M.W.

answers from Cleveland on

I was also wondering if she has celiac diease. Blood tests alone can't determine it. The best thing to do is to cut out Gluten and see if that helps. My son had ALL of these symptoms. Doctors had no clue what was going on. I cut out gluten and in two weeks he had gained 2 pounds (he hadn't gained more than 1 oz in a month!). I would talk to an intolerance specialist.

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T.B.

answers from Columbus on

HI,
I don't know anything about the syndrome you mention, but if it were me, I would go see a Dr. that did nutritional testing - find what she is deficient in and what she has too much of. I would recommend Dr. Bafford in Newark, OH or Dr. Merkle in Dayton,OH. THey do blood, hair, and urine analysis to start with and take into consideration all medications and suppliments someone is currently taking. You will get a detailed report back and they tell would recommend a diet and probably some suppliments - see how this works - then retest and see how she's improving - or in your case - put her on the scale and see how she's doing! GOOD LUCK!!! I would tend to agree with the gluten thing - dairy can also create havoc in the gut!
Hang in there!
T.

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E.M.

answers from Fort Wayne on

C., my daughter was diagnosed with Williams at almost a year old, so I know what you are going through. At the time, we had several different syndromes that it "could" have been. I believe one of them was Turners Syndrome, and there was a couple others. I struggled with doing the genetic testing as well because I thought it was just milk allergies (we tried EVERY kind of formula on the market, even the specialty mail-order ones that cost $300.00 a box!!!) - that didn't help. We considered every other possibility until finally my pediatrician convinced me by saying that if she DID have something they need to know because there are a lot of health problems that go along with these syndromes that need to be kept up on. So I broke down and got her tested, and low and behold she had Williams. But since finding out for sure what she had our lives have changed so much for the better because we are now meeting other Williams families and getting support from others who went through the same things :) So my advice would be to get yourself a geneticist referral and make a list of all the things your daughter has had happen to her and what she is doing now. Take that in and get the tests run - if they come back negative that's great, but if not then at least you know what to expect :) It's helped us tremendously knowing what we might have to deal with in the future and look for. Strange story too - when we walked into the geneticists office at Riley Hospital in Indianapolis we were standing outside in the hallway with our daughter waiting for our room. A doctor walked past us and just briefly glanced at Abby (my daughter). He didn't stare, just looked like you would look at a cute kid LOL. A few minutes later the other doctor came back into the room and said "the doctor thinks she has Williams Syndrome." Just by looking at her he knew with 98% certainty that's what she had. And although she does have the facial features, you can't actually tell that she has a syndrome because she doesn't look like it that much. She hasn't quite "grown into" her features yet I think. But just like that he knew what she had, and we ran the test and a week later it came back positive. So going to see a geneticist may be great too because they deal with all of these different problems on a daily basis and they just know what to look for, so they might be able to narrow something down and rule things out much more easily than a regular doctor or ped would. So go, have it done and take the stress off of yourself, you will feel much better knowing for SURE that she either has it or doesn't.

As for the constipation issues - Abby had those from the moment she was born as well, she would go for days with nothing and then EXPLOSIVE poops that were very difficult for her to get out. My pediatrician recommended Benefiber, start her on 1-2 Tbsp a day and go from there. Within 2 weeks Abby was better, and she hasn't been constipated since then, and that was over 3 1/2 years ago. I have tried stopping the fiber, but then the constipation comes back (symptom of Williams). It's perfectly healthy and natural, doctor said they could take the whole big bottle and all it would do was make her poop poop poop. She has never had any problems with it, I buy the Walmart brand for $10.00 and it lasts me almost 2 months. I just started with the 2 Tbsp a day and then upped/lowered it as needed until she was on a good schedule. I mix it in with her cereal she gets at night and she doesn't even realize it :) So you can try that, I have told a lot of people about it and they have all tried and said it worked great!!! Worth a shot. Good luck hun, and if you ever need someone to talk to or help you can email me ____@____.com :)

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S.J.

answers from Dayton on

Dear C.,

I have no idea what "William's syndrome is but when people have problems that are diffuse but their bodies are not working well there is one good answer - get tested.

Bodies need a lot of things to function properly and chances are our normal diets don't have everything in it we need. By design we can tolerate a lot of missing stuff but babies don't have the reserves that adults have. Chances that your daughter is missing stuff at the metabolic level (and she also might be sensitive or allergic to things. are if you are overweight and otherwise normal in your activity, you are starving to death. Not in the conventional sense of no food but at the metabolic level where your body is missing things it needs to properly function. If you are missing elements then the body responds to that as if you are in a famine by holding the fat and making you hungry for junk food that puts on the fat. Fat is the way you live through a famine.

There is no easy way to figure out what she is missing but there is a way. Proper testing of her blood can point to the areas that are weak. From there the right supplements can move her numbers to the middle of the ranges. When that happens her body will be able to function properlyknow that you are out of the famine and the fat will naturally disappear.

Go to www/3000health.com and learn about how the program works - http://www.bk2health.com/doctor/nutrition/nutrition-Dayto... It is all done by blood work so you don't have to travel to Dayton, Ohio to get tested. The radio shows are MIA at the moment but will be back. Listening will give you a good feel for how the program works.

They don't know me but I've had several friends who have been helped by Dr. Merkle that weren't getting help anywhere else.

God Bless,

S.

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S.H.

answers from Columbus on

Hello C.,

My neice has William's Syndrome....so I understand your confusion. Her mother is very wishy-washy and my brother has never told her that she was diagnosed with something because he doesn't want her to act like their daughter is not as good as everyone else. I help my brother care for her during the week while he works (he has bi-weekly custody) and I am very aware of how she is progressing.
Her weight has always been an issue that is why the doctors began her initial testing and came across this syndrome. I know that it has something to do with a missing link in your last chromozone and it is inherited. It may or may not cause developmental delays but almost always causes a failure to thrive. Olivia weighed 6lbs4oz when she was born and just turned 4 in November. She is now up to 26 and 1/2 pounds which is great for her! She has gained a total of 10 pounds since she was diagnosed at 18-months. She is a very smart girl who loves to do anything artsy and can't wait to start school. Honestly, I think a lot of this syndrome sounds scarier than it is...but you do need to be aware that she may have some problems in the future.
Olivia also has some facial features that reflect her syndrome. Her eyes are what was called "starbursts" or a abnormal pattern in the colored area of her eye...what is really amazing to me is all the compliments on her gorgeous eyes!!! Her eyes seem to sparkle, and her doctor said this is a result of her starburst pattern and is not typical...but it surely makes her unique and we love it! Also, the space between her top lip and nose is too narrow...I never even noticed this until it was pointed out to me, I just thought she appeared to have a narrow upper lip (and being of European decent, this is typical).
From one loving parent to another....just love your baby! That's all you can do in the long....and it will always help you get through! I hope this response was of some help to you, just remember; if you treat her as though she is not capable of success...she will never be capable of acheiving success on her own!

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K.C.

answers from Toledo on

I wonder if she has celiac disease.( Allergic to wheat) My two girls and my husband and I have it. One of the signs is not thriving.

All for of us though have different symtoms. My husband has a rash. I have extreme tiredness and my girls had stomach aches. One can not get tested until age of three for the antibodies do not settle down.

If you have any questions feel free to email me.

Good Luck,
K.

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B.D.

answers from Dayton on

My husband's cousin has a little girl who also has a hard time gaining weight and she has been diagnosed with SLO (Smith-Lemli Opitz) syndrome. Its where the body does not produce cholesterol. She also has various facial features (small head, bad eyes, teeth, etc) that were signs as well. Its something you might want to look in to. Here's a website where you can find out more information. http://www.smithlemliopitz.org/

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