Does anyone have a child with williams syndrome? - Mothering Forums

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#1 of 34 Old 05-15-2008, 05:33 PM - Thread Starter
 
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My daughter is being tested - I am fairly certain she has this based on facial features, reflux, hoarse sounding cry. No heart problems that we know of but those can be subtle. I am beside myself.

DS T 11/16/03 DDs K & E 3/28/08
nak DS S 4/1/11
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#2 of 34 Old 05-15-2008, 06:13 PM
 
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Our DD(19m) has Williams Syndrome, I see that you are in california, we are in southern california (ventura county).

There is a lot of joy to be had with Williams Syndrome. DD is gifted in language, she has exceptional pitch ability, and she is a delight to be around because of how social and friendly she is with everyone.

It is not all roses, there are challenges with sleeping, reflux, sensory issues, etc etc but overall many of the things that make her into the person she is, also happen to be WS traits. Our DD only has a slight heart murmur, but we have to keep on top of it. She is small in stature (almost completly fallen off the growth charts), but she is healthy and happy.

Knowing about WS is a great insight into knowing how your DC will react to the world. It is like getting a guide, so it was really nice to put a finger on how to deal with her challenges.

Unfortunatly most of the WS groups are super-de-douper mainstream and we find ourselves pretty distant from them, but still often we run into parents who are co-sleeping their WS kid at age 7-8.

I guess I can offer little comfort, just know that it isn't the end of the world, and our sweet little pixies are so very easy to love.
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#3 of 34 Old 05-15-2008, 06:32 PM
 
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Hey RD

Don't know if you remember me from SC but I just wanted to give you a warm welcome to the SN forum. The parents here are wonderful and really supportive. ShaggyDaddy and his DW Aja-belly are really knowledgeable.



Martha
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#4 of 34 Old 05-15-2008, 06:59 PM
 
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mama!

I've read a lot of your posts in the multiples board (I lurk over there a lot because of family history of twins), so I feel like I "know" you

Welcome to the special needs forum! This is a great group of parents! Even if your daughter turns out to not have a syndrome, her needs may require a bit of a different parenting style than your son and other daughter. So be sure to post whatever questions you have! Lots of us have worked through reflux, for example.

By the way...my son's syndrome is typically diagnosed because of a severe heart defect, which is I think what delayed his diagnosis (because he apparently had no defect) Once we got the genetic testing back saying 22q deletion, we were immediately sent to a cardiologist and they actually did find a minor heart issue that had gone undetected for a year. It's nothing that requires any following or management, but lots and LOTS of drs missed it all along. So just be aware that there could be something there, but it may not be bad.

When do you get the testing back?

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
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#5 of 34 Old 05-15-2008, 07:18 PM
 
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oh yeah and might as well start with the tips that we haven't read elsewhere.

White noise every day. DD is calmest when she is at the beach, or near the loud air purifier. She is so hearing sensitive that I think the steady white noise is a nice "break" for her.

Face time people with WS tend to crave facial connection with other people. When DD was born, one of the first things she did was lock eyes with DW (adoption, but DW was present for the birth). Even as a tiny baby, DD absolutly loved and thrived on long periods of staring into your eyes, (I imagine she does this with her sister) Just searching for an emotional connection.

This one everyone will tell you, but Music music music. DD gets offended by our off-pitch singing, but she loves music and always has, it doesn't have to be like Vivaldi or Mozart or anything... she is happy with our Ben Folds, Barenaked Ladies, Eric Clapton, Bowling for Soup, etc etc "Adult Alternative" collection.

The Daddy Hold
head in the crook of the elbow, hand on the gut, legs hanging down... Her gut issues, her reflux, her joint pain issues all relieved for deep sleep and nice daddy bonding time. Marvel spent at least 4-6 hours per day in this position for the first year, from the instant I got home from work. Instant fussy baby fix. (this isn't abnormal for babies without WS, but for DD it was essential) Here is a pic of what I am talking about

And if you do it right, one hand free. To this day she demands I pick her up the INSTANT I get home , although it is not for 4 hours anymore.
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#6 of 34 Old 05-15-2008, 08:06 PM - Thread Starter
 
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Kittynurse - not sure I remember you but thanks for the welcome.

2boyz - pedi said results take about a week which is less time than i thought so i don't know if he is misinformed or if the lab is quick. bw was drawn on Tuesday... so next mon or tues?

shaggy - what made you suspect your dd had williams? mine doesn't have any of the typical fussiness people report with williams babies... she sleeps better than her sister... doesn't freak out over loud noise... demands less holding than her sister... she doesn't nurse as incessantly as her sister (and as my son did)... which is both upsetting (the whole WS kids not eating thing) and nice (two doing it would be so much harder...) I keep hoping these things mean she doesn't have it but the facial features are too pronounced... the puffy eyes, no nasal bridge, bitemporal narrowing, small chin... she also has an umbillical hernia and the reflux, which I mentioned - she seems to spit up everything she eats. She nurses well (none of the ws feeding difficulties) but it comes back up - she is getting longer but no fatter. Her sister is still short but is getting some serious baby chub.

What delays did your dd have, if any? When did she talk, walk, crawl...??

This is not something I ever in a million years would have thought of while pregnant... I figured anything bad would be caught on ultrasound! I keep hoping it isn't true but I am 99.999% sure it is. We are still waiting to meet with a geneticist - I am just glad we got the pedi to run the tests. He was reluctant but I was insistant.

DS T 11/16/03 DDs K & E 3/28/08
nak DS S 4/1/11
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#7 of 34 Old 05-15-2008, 09:04 PM
 
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RunnerDuck-

I wanted to comment again...you listed some of the symptoms your daughter has that led you to believe WS...the puffy eyes, no nasal bridge, bitemporal narrowing, small chin... she also has an umbillical hernia and the reflux, which I mentioned - she seems to spit up everything she eats All of those symptoms are common in 22q deletion syndrome (link in my siggy), except maybe the bitemporal narrowing (although a long face is common, so maybe that's the same thing?) Also common is palatal issues (sometimes an actual cleft, sometimes just palate dysfunction which is harder to identify), cardiac issues, far spaced eyes, hearing issues (conductive loss), malformed ears (particularly the outer helix being "folded" or "crimped"), sometimes some kidney issues (which can go undiagnosed until a UTI hits), breathing/airway issues (ranging from mild--louder breathing--to severe--fistulas, strictures, my son had laryngotracheobroncho malacia)

I'm not trying to scare you in any way here, but the few things you listed just struck a bell with me as being common in 22q.

What kind of test did the pedi run? A Microarray? If so, it would pick up 22q deletion if she has it. Connor's microarray tok 4 weeks to come back, but they sent the blood several states away, so that might be why. His high resolution test (which was done initially) only took a week (but told us nothing).


Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
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#8 of 34 Old 05-15-2008, 09:18 PM - Thread Starter
 
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I'm not trying to scare you in any way here, but the few things you listed just struck a bell with me as being common in 22q.

What kind of test did the pedi run? A Microarray? If so, it would pick up 22q deletion if she has it. Connor's microarray tok 4 weeks to come back, but they sent the blood several states away, so that might be why. His high resolution test (which was done initially) only took a week (but told us nothing).

Hmmm... well from the little I know of your son's condition it seems preferable to WS so ... not scared there! But nothing else about your sons seems to fit. The pedi just ordered the FISH for Williams - looks for deletion of the elastin gene on chromosome #7 I think...

Do you happen to know what exactly is the definition of failure to thrive?? The baby we suspect has WS was 5-14 at birth, 5-3 at discharge - she was just under 7 the day I brought this up with the pedi first (5 1/2 weeks?) Her sister was 5-1 at birth, 4-10 at discharge, 6-10 3 days before I brought this up - so they have gotten really close in weight which seems to me like the one we suspect of WS isn't thriving... when is it not thriving and when is it just slow weight gain? not that it matters much, all the other symptoms scream way too loud...

DS T 11/16/03 DDs K & E 3/28/08
nak DS S 4/1/11
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#9 of 34 Old 05-15-2008, 09:31 PM
 
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Connor's FTT was obvious...not to birth weight at 4 weeks old. Your girls sound like they're doing great! 22q has a huge variability...some kids are severely effected, others are hardly noticeable. Some families find out they have it only after a baby is born with a heart defect and genetic testing is done on the family.

If the WS test comes back neg, talk to the geneticist about 22q just for his/her opinion. Can't hurt.

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
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#10 of 34 Old 05-15-2008, 10:35 PM
 
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there are actually alot of syndromes that have similar characteristics/symptoms as ws.

we knew there was a family member with ws and mentioned it to our dr. i kinda thought she might make a note of it in her file or something, but as soon as our dr heard the words williams syndrome she was sure that was what was 'up' with marvel. she has hernias and had feeding issues as a newborn. she would get so startled by noises or if she was tipped back she would get hysterical. she hated sunlight. she has a heart murmur (though it is not serious at the moment). she has the facial features. when we first suspected it i spent hours flipping through pics of ws kids and some of them looked just.like.marvel. she was actually quite chunky as a newbie, but when she started solids she fell off the growth charts (man that breastmilk sure was working for her). she is however still doing great by the williams syndrome growth chart. i think alot of kids with ws get diagnosed with ftt because of slow weight gain etc, but you have to take alot more into consideration (like developement etc). marvel has developed very well. she was crawling before 6 months and walking well before a year. that is almost unheard of on our ws list, but i think if it wasn't for the family connection it would have gone un-noticed.

i could talk about her for hours. lol. if you have any other questions lemme know.

Mama to Jet 6/05, Marvel 8/06 and Cash and Fox 2/09
Expecting Ada Marianne 11/14
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#11 of 34 Old 05-16-2008, 02:07 AM
 
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RunnerDuck,
I haven't 'talked' to you for a while and didn't expect to see you on the SN forum. I am sorry you are going through this stress. It is so difficult waiting for test results.
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#12 of 34 Old 05-16-2008, 03:55 PM - Thread Starter
 
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Aja, what is this list? How can I become a member?

I was looking at the pictures in your sig - your daugher doesn't look like she has WS at all to me! I actually thought maybe your SON was the WS child - he has sort of puffy under eyes. (And please don't take offense that I thought your son was a girl... my son has long hair, too, so we get the confusion all the time, too I was looking for WS characteristics...)

Did your daughter have a weird strained sounding cry as a baby?

Did she spit up ALL THE TIME? You mention reflux but I am never sure if people just mean heartburn type reflux of actual spitting up. My DD seems to spit up half of what she eats and sometimes all of it... I have a bulimic baby! I am hoping at least if she gets a diagnosis they will take this spitting up seriously and give us something for it - reglan? Then maybe she will put on more weight. (right now we just get "all babies spit up" - but the pedi isn't seeing the degree to which she spits up! I am so glad there are two babies and one is getting chubby - it shows the problem is not with my breastfeeding abilities - and won't be fixed with formula - she needs to stop spitting up, it's not that she needs to eat more!)

Are you sure your DD has WS? She just looks so normal (I see the puffiness in early pics but it seems like it went away and I thought it was supposed to get worse?) and seems to be doing so well - she had the FISH test and all? It gives me hope to hear she is doing so well.

DS T 11/16/03 DDs K & E 3/28/08
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#13 of 34 Old 05-16-2008, 04:10 PM
 
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i have no idea what the cry thing is you are talking about. i have been reading about ws for almost 2 years now and don't recall that. are you maybe confusing ws with cru de chat? marvel spit up alot. she still spits up on occasion (at almost 21 months). she not only had reflux, but also has a very sensitive gag reflex.

i'll pm you the link to the ws list. it's huge and run by the williams syndrome association.

also "the williams look" varies ALOT by person. i'll also pm you a link to a gallery of ws kids and you'll see what i mean.

Mama to Jet 6/05, Marvel 8/06 and Cash and Fox 2/09
Expecting Ada Marianne 11/14
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#14 of 34 Old 05-16-2008, 04:47 PM
 
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Did your daughter have a weird strained sounding cry as a baby?

Did she spit up ALL THE TIME? You mention reflux but I am never sure if people just mean heartburn type reflux of actual spitting up. My DD seems to spit up half of what she eats and sometimes all of it... I have a bulimic baby! I am hoping at least if she gets a diagnosis they will take this spitting up seriously and give us something for it - reglan? Then maybe she will put on more weight. (right now we just get "all babies spit up" - but the pedi isn't seeing the degree to which she spits up! I am so glad there are two babies and one is getting chubby - it shows the problem is not with my breastfeeding abilities - and won't be fixed with formula - she needs to stop spitting up, it's not that she needs to eat more!)
Connor had a very weak, hoarse cry as an infant, he rarely cried at all, was actually a little famous on the floor of the hospital he was at after birth as the "baby who never cried". And when he did cry, it sounded like a kitten mewing. I was so scared that he had cri du chat! The ENT did a laryngoscopy and found that he had laryngomalacia as well as severe reflux (at that point, the amount of spit up coming "out" wasn't alarming, but apparently he was refluxing and then swallowing it back down, his throat was so red, the ENT said he had never seen that raw a throat in a baby that young) The combination of reflux and laryngomalacia is what made his cry sound so weird.

As far as treating reflux, we ran the gamut of medications and none of them worked very well. Eventually the amount of milk coming up and out was so much that his weight gain dropped from 80+% at birth to the 5th% at 3 months old. The GI wanted me to try Reglan, but I had read of some side effects, so was wary. I ended up going on an elimination diet and identified a dairy and soy allergy. What a difference!! In a few weeks the reflux was MUCH less, he was off all meds, and the fussiness was gone!!

Keep her upright as much as possible (the sling was our lifeline!), feed her upright (we did a tummy-to-tummy position with him straddling my leg when eating), keep her upright for at least an hour after feeds, and start researching sleep positions. Connor's medical issues required that he be a tummy sleeper, but many of those were anatomically related. You said she has a small chin...is it small, or receeded, or both? Look up Pierre Robin Sequence (note that an obvious cleft palate is not required for PRS). Babies with PRS, or symptoms similar to PRS, are often safer sleeping on their stomachs, and that will help her reflux.

Does it ever come out her nose? Does she ever seem to choke, gag, or cough?

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
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#15 of 34 Old 05-16-2008, 05:05 PM - Thread Starter
 
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The cry is kind of hoarse... she doesn't make the pleasant light "eh, eh, eh" baby noises most make at this age. People with WS are supposed to have hoarse voices as a symptom which is why I thought maybe the cry is part of the WS - the deletion of elastin gene makes the vocal chords funny. Of course I have also considered the spitting up making her cry funny - I though THAT explains it, not WS - but then I though OK what is causing the spitting up??

Chin is small - doesn't seem to be receeded...

Both babies have small chins - my chin is small/comes to a point - but the baby we suspect has WS has a REALLY small pointy chin.

The spit up does come out her nose sometimes. I guess she chokes gags or coughs sometimes?

WRT sleeping on the stomach - we often end up with both babies on our chests around 4 or 5am - it's the only way to get more than an hour of sleep (for me) DH hates doing it and says "I don't know how you can sleep with them on your chest so well" and I say well it's a hell of a lot easier than getting up every 50 minutes. I'd happily have them there all night but BOTH have to be on a chest or I will wake with one and have to put one down (off my chest) and she wakes up and then both are awake and DH pretends to not hear anything ... I prefer when only one wakes at a time at night.

DS T 11/16/03 DDs K & E 3/28/08
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#16 of 34 Old 05-16-2008, 05:11 PM
 
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People with WS are supposed to have hoarse voices as a symptom which is why I thought maybe the cry is part of the WS - the deletion of elastin gene makes the vocal chords funny.
that's interesting. i have not heard that. we have met many people with ws (at least 20) and i do not recall any of them having significantly hoarse sounding voices. i'm off to try and find out more....

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#17 of 34 Old 05-16-2008, 05:49 PM
 
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The cry is kind of hoarse... she doesn't make the pleasant light "eh, eh, eh" baby noises most make at this age. People with WS are supposed to have hoarse voices as a symptom which is why I thought maybe the cry is part of the WS - the deletion of elastin gene makes the vocal chords funny. Of course I have also considered the spitting up making her cry funny - I though THAT explains it, not WS - but then I though OK what is causing the spitting up??

Chin is small - doesn't seem to be receeded...

Both babies have small chins - my chin is small/comes to a point - but the baby we suspect has WS has a REALLY small pointy chin.

The spit up does come out her nose sometimes. I guess she chokes gags or coughs sometimes?

WRT sleeping on the stomach - we often end up with both babies on our chests around 4 or 5am - it's the only way to get more than an hour of sleep (for me) DH hates doing it and says "I don't know how you can sleep with them on your chest so well" and I say well it's a hell of a lot easier than getting up every 50 minutes. I'd happily have them there all night but BOTH have to be on a chest or I will wake with one and have to put one down (off my chest) and she wakes up and then both are awake and DH pretends to not hear anything ... I prefer when only one wakes at a time at night.
The reason I asked about the spit up coming out of the nose is because that could be indicative of a palate dysfunction. Initially with Connor, his cry, his spit up through his nose (it was ALWAYS through his nose, never his mouth), a weird "clicking" sound he made when nursing, and a lot of choking/coughing/gasping when nursing were the reasons we did a swallow study when he was 4 weeks old (plus he wasn't back to birth weight yet). The swallow study showed aspiration (milk going into his trachea) and significant nasopharyngeal reflux (his palate wasn't closing correctly which allowed the milk to flow up into his nasal cavity instead of down into his throat). Until that swallow study, all the drs were "poo-pooing" me, basically saying that the only reason he wasn't gaining weight was because I refused to supplement with formula (but I was pumping several ounces between feedings, and my milk was THICK, so I knew it wasn't a breastmilk problem). Suddenly after that swallow study they were concerned about everything from his lower jaw to his ears (they are malformed, although the drs had previously dismissed it as his position in utero).

Swallowing issues can cause or exacerbate reflux, so if you don't want to jump straight to medicating, you can ask for some further testing. A swallow study is quick, easy, and painless (but you will have to pump and bottle feed for the study, only an ounce or two, and it will mean a few xrays)

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
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#18 of 34 Old 05-16-2008, 07:00 PM - Thread Starter
 
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Until that swallow study, all the drs were "poo-pooing" me, basically saying that the only reason he wasn't gaining weight was because I refused to supplement with formula
Ha... like I said I am glad I have 2 and one is chubby so no one can blame my breastfeeding skillz! We did have to supplement with formula early on (she lost too much weight before my milk came in - then it took forever for my milk to come in full enough for both of them) - weight gain was no better, spitting up was the same...

Will look into palate/swallowing problems if needed - right now the WS takes up all of my brain.

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#19 of 34 Old 05-17-2008, 01:14 PM
 
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Megan is belived to have a 22deletion like Connor does, BUT Williams sydrom has also been mentioned for Megan (but not tested for). In Megan's case there are syptoms that are major flags for either.
For the 22del she has the cleft palete and PRS, immune system issues and heart defect
For Williams she has the heart defect, An absolutly insane love for music - and fantastic pitch as she is "singing" songs. Attention to detail - this have to be "just" so or she will have a fit. They most happy go lucky kid I have EVER met - she never balks at the doctors - they do bloodwork on her with not so much as a wimper. It's almost as if she feels no pain.
Megan's inital test for 22del came back negative but they are doing more in Oct and I know they are looking for some other chromasone disorders as well
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#20 of 34 Old 05-17-2008, 05:47 PM
 
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My experience with WS is once removed (one of my dearest, lifelong friends has a daughter with Williams), but I wanted to throw in a slightly different perspective -

G is 27 years old now, and a remarkable young woman. She works part time, and volunteers regularly with her church. She has been on 2 or 3 work trips to New Orleans (far from here!) to help rebuild. She has her own friends, religious beliefs, and lifestyle (although she lives with her Mother, she is very independent in her beliefs). She had some mild to moderate medical conditions in her early years, but all are resolved now. She grew up alongside ElderSon of mine, who is just the same age. ElderSon had every genetic and physiological advantage. He was (and is!) handsome, super intelligent, and with all sorts of street smarts. When I was having problems with ElderSon, G was the trouble-free one! The teen years were a breeze for her, as she has social skills beyond her years. Yes, she has all the expected Williams Syndrome traits - developmental delays, certain facial features, music and language gifts, and all that. But the thing that makes G so special is her unfailing cheerful demeanor, and cooperative, helpful attitude. Of course, I credit her wonderful Mama and Older Sister for her upbringing, but much of her wonderful self is the WS. I met several other WS kids over the years, and they all had that certain spark. I don't have words to describe how cool these kids are.

I know this sounds like a sales pitch, and I don't mean in any way to minimize the OP's pain and fear. But I am a foster and adoptive parent, and I am actively looking for a child with Williams Syndrome. I mean to say that I am seriously looking to have a child with Williams Syndrome - this is not a case of facing, accepting, or making do. Just as I have learned to love my YoungSon BECAUSE of his autism, not in spite of, I think Williams Syndrome is at least as much a blessing. I wish for the OP, if WS is indeed the DX (or even if it isn't), the joy that G gives her family and the world.

As a wise woman once said: "The world has plenty of smart people; what it needs is more good people".

Rhu - mother,grandmother,daughter,sister,friend-foster,adoptive,and biological;not necessarily in that order. Some of it's magic, some of it's tragic, but I had a good life all the way (Jimmy Buffet)

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#21 of 34 Old 05-17-2008, 08:55 PM
 
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Originally Posted by mamarhu View Post
My experience with WS is once removed (one of my dearest, lifelong friends has a daughter with Williams), but I wanted to throw in a slightly different perspective -

G is 27 years old now, and a remarkable young woman. She works part time, and volunteers regularly with her church. She has been on 2 or 3 work trips to New Orleans (far from here!) to help rebuild. She has her own friends, religious beliefs, and lifestyle (although she lives with her Mother, she is very independent in her beliefs). She had some mild to moderate medical conditions in her early years, but all are resolved now. She grew up alongside ElderSon of mine, who is just the same age. ElderSon had every genetic and physiological advantage. He was (and is!) handsome, super intelligent, and with all sorts of street smarts. When I was having problems with ElderSon, G was the trouble-free one! The teen years were a breeze for her, as she has social skills beyond her years. Yes, she has all the expected Williams Syndrome traits - developmental delays, certain facial features, music and language gifts, and all that. But the thing that makes G so special is her unfailing cheerful demeanor, and cooperative, helpful attitude. Of course, I credit her wonderful Mama and Older Sister for her upbringing, but much of her wonderful self is the WS. I met several other WS kids over the years, and they all had that certain spark. I don't have words to describe how cool these kids are.

I know this sounds like a sales pitch, and I don't mean in any way to minimize the OP's pain and fear. But I am a foster and adoptive parent, and I am actively looking for a child with Williams Syndrome. I mean to say that I am seriously looking to have a child with Williams Syndrome - this is not a case of facing, accepting, or making do. Just as I have learned to love my YoungSon BECAUSE of his autism, not in spite of, I think Williams Syndrome is at least as much a blessing. I wish for the OP, if WS is indeed the DX (or even if it isn't), the joy that G gives her family and the world.

As a wise woman once said: "The world has plenty of smart people; what it needs is more good people".
Thank you, Mamarhu. That was a gorgeous post.

OP, my youngest has "red flags" for WS but no cardiac issues, so we have chosen to delay testing at this time.

ETA: Nico had a very distinctive, small cat's cry during the newborn period. It sounded like classic cri-du-chat. Turns out it was just a baby idiosyncrasy. Now, at 9 months, he makes such a huge variety of sounds that it's startling, but many of them are high-pitched "dolphin" noises.
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#22 of 34 Old 05-23-2008, 01:26 PM - Thread Starter
 
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nak -

we got the results back last night and the pedi says they are neg for ws. i believe they were run at this lab http://www.questdiagnostics.com/bran..._ni_index.html which he says is reputable - i worry about a false negative which has been known to happen. we meet with the geneticist on june 10 and i guess then there will be more testing to find is it really ws after all (she just LOOKS like it... i can't believe the test was neg) or is it something WORSE (and oh boy have I learned there are worse things) or something better or nothing at all...

my dream is to some day tell my daughter "you were such a goofy looking baby we took you for genetic testing" - but my gut says it's NOT going to be nothing. she just has too many oddities... (then again i wonder, i had a ct scan of my appendix a week after conception - long story - i pleaded that i might be pregnant but got the whole benefits to risks yada yada yada... i wonder if that messed her up?)

waiting and waiting... this sucks!!!!!!!!!

DS T 11/16/03 DDs K & E 3/28/08
nak DS S 4/1/11
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#23 of 34 Old 05-23-2008, 01:37 PM
 
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hopefully the genetecist will have some answers for you. there really are alot of syndromes with similar facial features (a couple others have been mentioned here i believe). the genetecist would know what tests to run and maybe what else it may be.

Mama to Jet 6/05, Marvel 8/06 and Cash and Fox 2/09
Expecting Ada Marianne 11/14
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#24 of 34 Old 05-23-2008, 02:10 PM
 
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Big Hugs to you RunnerDuck...
As a mama going through a seemingly never-ending string of genetic testing, I really know what you're going through. You are simultaniously dreading/anticipating the phone to ring with the results, and then you find yourself once again simultaneously happy/disappointed when the tests come back normal.
Can I give you a little advice, in the most gentle way possible? When you've got a mystery kiddo, you start thinking she has EVERYTHING that you read about. A whole slew of genetic issues have very similar symptoms, and its really easy to freak yourself out by assuming that they've got the latest condition-du-jour that you're reading about. Just a little BTDT advice.
Also, just get yourself settled in for the long haul. I'm just so there, Mama, and I wish someone would have told me this. Please, please, please do not put your life on hold thinking that everything is going to be resolved (or at least have answers) in a span of a few weeks or even a few months. We're coming up on our one year anniversary of testing, and there are SO many more questions than answers. The best advice I can give you is to just ENJOY your baby, and know that whatever is going on with her (if there is, in fact, something going on with her) is already there, and having a label to put on it more often than not doesn't make a huge difference.
Lots of love being sent your way...
Corey
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#25 of 34 Old 05-23-2008, 02:12 PM
 
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Originally Posted by RunnerDuck View Post
nak -

we got the results back last night and the pedi says they are neg for ws. i believe they were run at this lab http://www.questdiagnostics.com/bran..._ni_index.html which he says is reputable - i worry about a false negative which has been known to happen. we meet with the geneticist on june 10 and i guess then there will be more testing to find is it really ws after all (she just LOOKS like it... i can't believe the test was neg) or is it something WORSE (and oh boy have I learned there are worse things) or something better or nothing at all...

my dream is to some day tell my daughter "you were such a goofy looking baby we took you for genetic testing" - but my gut says it's NOT going to be nothing. she just has too many oddities... (then again i wonder, i had a ct scan of my appendix a week after conception - long story - i pleaded that i might be pregnant but got the whole benefits to risks yada yada yada... i wonder if that messed her up?)

waiting and waiting... this sucks!!!!!!!!!
Would you mind posting a picture of your daughters? I know some parents don't like to do that...maybe you can post some for a day and then pull them off? Your decision of course.

Don't let yourself get caught up in the blame game...you have two babies, one that appears perfectly normaly, chances are that it's absolutely nothing that you did or didn't do. And if it turns out to be a genetic syndrome, then obviously it's nothing you did or didn't do, the chromosomal problem was there at the moment of conception (that fact has helped me through a few blaming periods, Connor's deletion ocurred at the moment of conception for some reason we will probably never know.) My husband and I did choose to have ourselves tested after we discovered Connor's deletion, mostly so we knew what our risks are for future pregnancies, but also so we could alert family members if it turned out one of us carried the deletion (because then our parents and siblings might want to consider testing)

Now that you know it isn't WS, you might want to start focussing on individual symptoms (well, you'd do that even if it was WS). FOr example, her reflux. You might try an elimination diet. I started with eliminating dairy and saw a big improvement. Then I also eliminated soy and was able to get him off reflux meds completely. He still refluxes some, but not failure to thrive reflux anymore. You might also ask for a referral to GI, ENT, and/or pulmonology to discuss her cry, her reflux, and her weight gain. Connor's abnormal cry was attributed to his reflux and his airway malformation (initially diagnosed as laryngomalacia, later extended to laryngotracheobroncho malacia)

If you do start seeing more specialists, keep in mind that you'll likely have to be VERY firm with your stance on breastfeeding. Are you able to exclusive breastfeed the girls, or are you supplementing some? Every single dr that Connor has seen, with the exception of his wise and wonderful pulmonologist, has tried to "force" me to supplement. That's a battle I've fought from his first well baby visit at 2 weeks old. Actually, I guess the battle started at less than a day old when he had no suck or root reflex and couldn't latch on.

Anyway... June 10th isn't that far away, enjoy your daughters in the mean time and try not to focus on anything else!

Mommy to BigBoy Ian (3-17-05) ; LittleBoy Connor (3-3-07) (DiGeorge/VCFS):; BabyBoy Gavin (10-3-09) x3 AngelBaby (1-7-06)
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#26 of 34 Old 05-23-2008, 05:22 PM
 
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Although not related to WS, we've gone through two years of frustration and misdiagnosis before testing and year of h*ll after genetic tests...keep in mind that genetic testing can be misleading and not all doctors know how to read the test results. We had three reputable neurologists tell us our son had a condition because his genetic tests were positive. It was true he had the genetic mutation; however, in his case since the condition is rare, they didn't really understand that he may not have all the debilitating effects. I hope you find answers quickly.

As for reflux, my son’s was very severe. After an upper GI at one week old he was started on Reglan and Zantac. I do worry about the side affects especially considering it didn't seem to help much.
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#27 of 34 Old 05-23-2008, 06:40 PM - Thread Starter
 
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nak

corey i know all about imagining the worst with dx's.... but man when all the signs are staring you in the face...

2boyz i am going to try to get her in to an ent to see about the voice. maybe there is an explanation for it other than ws... ws still isn't ruled out though even though the test was neg. can be false neg, run wrong... or some individuals don't test pos but are still said to have ws... even if it is ws though that doesn't mean her voice issues aren't caused by something else correctable. pedi not on board with running from specialist to specialist (says wait for genetics consult) so i am waiting for my neighbor to call me back to see which ent she used to take her kid to.

both babies are on all breastmilk. baby b was in nicu after birth and had bottles all the time, then both babies got bottles after every feed once we were home because it took forever for my milk to come in good and they were too sleepy/lazy to help matters much (i'd pump while they had bottles)... but once my milk was in and both were on boob only they really haven't been too keen on bottles. baby a (the suspiscious one) really wants nothing to do with a bottle and takes one only with much coaxing. baby b sometimes acts voraciously hungry (generally on her left boob days - each baby gets one boob each day and my left boob doesn't seem to make as much) so we will top her off with expressed milk in a bottle but she's not too graceful about it. i am more than confident that a's scrawniness is not due to my nursing inabilities and won't be fixed with formula... i can put all the formula in the world in her but what good is it if she's just gonna barf if up? so... if the specialists wanna bring on the supplementing talk... they can feel free... but it will fall on deaf ears. (the only thing i can see helping is high calorie formula... i *might* be open to that... since even if half of it comes up she'll be getting more calories... but it's not like she's withering away here, she's just not plumping up like her sister...)

dbsam - the reflux is really about to drive me batsh*t crazy... everyone jokes about babies spitting up and it seems like such a little thing but ... ugh!!! there are some meals that stay down 100% but for every one of those there is a meal where at least half comes up, if not all... then all the others are somewhere in between. i'd say 1/4 - 1/3 of each meal comes up most of the time. i will nurse her and then hold her up... up... up... up on my shoulder, patting her gently, hoping for a burp but not a vomit burp... or if no burp hoping to at least keep all the milk down... meanwhile the other baby will be screaming and i feel bad... finally i will think it is safe to put her down and pick up b... and then i'll look at her sitting in the swing or bouncer (both at reflux friendly angles mind you) and she will calmly open her mouth and milk will pour out. at least it doesn't seem to bother her but sheesh... and night time, ugh! i will nurse her and hold her for a little while but i'm not gonna hold her for an hour - i need sleep too! she inevitably barfs in the crib and ends up with a barfy swaddle blanket, barfy jammies... and i've given up on fixing it because she doesn't care and i just can't keep up with it. if i wake her to unswaddle her and change her jammies, then i have to nurse her to sleep again and the cycle will just repeat. so i lay there in bed listening to her barfing in her sleep and feeling like negligent mom of the year... (we had the crib inclined for a while on calculus books but it didn't seem to make any difference, just made it more annoying to move away from our bed to change sheets - it's sidecarred by out bed)

i've gotten so the smell of sour milk vomit doesn't even register on my brain any more. :P

i am dismayed to here the reglan doesn't seem to help... i am taking domperidone to help with my milk supply, i had hoped she might get a little through my milk and that might help, but it doesn't seem to have. it's all luck. she's like a slot machine only she puts out vomit instead of tokens and you hope and pray not to hit the jackpot...

eta - pictures - we're having difficulties downloading for some reason but once dh figures that out i will post some...

DS T 11/16/03 DDs K & E 3/28/08
nak DS S 4/1/11
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#28 of 34 Old 05-23-2008, 07:32 PM
 
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The reflux is awful, reading your posts I remember some of the details I had forgotten. This is not popular on MDC but since both of my kids had reflux, Charlie's was much worse, we found it best to put both swings next to our bed. The kids slept upright for six months and it did help. (In the NICU they always had him at an incline on his side or on his stomach.) I covered everything in blankets so I could whip them off and replace every time they were soiled and I didn't need to wash the swing covers as much. (We tried cribs on blocks but it didn't work for us.) Charlie used to grab his throat and scream and I felt so helpless and awful. Maybe the Reglan and Zantac did work, maybe it w/h/b worse w/o it. I felt like Charlie cried the entire first year of life and he ate constantly probably because so much was coming back up. (He was gaining weight.) Once they transferred to cribs I used the 'ultimate crib sheets'. They snapped over the fitted sheet and had a waterproof back so I could rip it off during the night and always have a clean sheet underneath. I kept waterproof pads over everything to help with the cleanup. So between the waterproof pad, the ultimate crib sheet, and the fitted sheet he could have three spit ups before I had to actually change the crib sheet!

I'm trying to remember when it improved and I think it was about a year or eighteen months. (You'd think I would remember all of this but I don't.) Charlie had a sleep study done at eighteen months because of his strange labored breathing at night which was still going on but the reflux had improved.
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#29 of 34 Old 05-23-2008, 08:03 PM
 
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The reflux is awful - 2 of my 3 kids where really really bad - constant projectile as soon as the feeding was over and silent reflux inbetween. We did the zantac and it worked a little but we had better luck with keeping them upright - even to sleep. Yup this ment my son slept in his swing untill he got too big for it then a big bean bag chair. When his youngest sister was born she slept in the bouncy from the time she left the NICU untill just recently (yes at 2yo) when she inherited the beanbag chair.
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#30 of 34 Old 05-23-2008, 08:18 PM
 
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Don't blame yourself. If it is something genetic, nothing you could have done AFTER conception would have caused all of her cells to carry the same mutation. A genetic disorder is something that is present in either the sperm, the egg, or in the first cell when they join. You can't cause a genetic disorder in an embryo or a fetus. You can cause mutations that affect certain parts of an embryo/fetus (birth defects), but you can't change the whole genetic makeup of all the cells.

DO NOT BLAME YOURSELF.

RedOak ~ Momma to DS (8) , DS (4) , DD (3) , & DD 9/10 ~
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