Williams Syndrome

As some of you know Imogen is being investigated for chromosomal disorders - the condition her Pediatrician is most suspicious of is Williams Syndrome.

For those of you that don't know (I didn't know!) this is a condition caused by a partial 7th chromosome.
It manifests as slow to thrive, small and short stature, slow to walk and often with a military gait, initially very poor language ( later on children have a very mature language skill.)
About 75% of children have cardiac issues - Imogen does not appear to have this.
There physical characteristics are very small "elfin" features - with a characteristic upturned nose and a low nasal bridge. There are the epicanthal folds to the eyes which are typical of many syndromes.

Children have mild to severe mental retardation - which obviously takes time to know the extent of this. Very few children are of "normal" mental function.

I am wondering if anyone out there has experience with Williams Syndrome. I won't know obviously until the results are back - I guess for me if she has this it will be an answer to questions I have asked since her birth. I have thought there is something wrong all along. I jollied myself by telling myself I was stressing over nothing etc etc..

Imogen was born with an eartag - for those that don't know an ear tag is a signpost for chromosomal disorders. Because she obviously did't have Trisomy 18 or 21 I shrugged it off as not important. Though at the time it spoke loudly to me.
Even the doctors in NICU said: "she clearly hasn't got a trisomy so it must just be an aberration.

Williams people have got a gift with music (typically) with many having perfect pitch and rythum. Imogen can hum any tune and it is quite freaky! We all sing songs and whilst she cannot sing the words she keeps the melody exceptionally well for one so little.

They have incredibly happy and social personalaties and are unusual in that they will go to "anyone". This becomes a problem as they get older as they have no stranger danger sense and everyone is their "friend".

Many children with Williams are not diagnosed until around Immy's age - some not even until they go to school... Parents typically think they are just late bloomers etc. Easy thing to think in the absence of any cardiac problems.

Imogen has everything except the cardiac issues. She has had a karotyping and a FISH - Williams is diagnosed with FISH. We are awaiting the results.

Anyway I would be very grateful to hear from anyone with any experience either personally or professionally in this area.

:hug:

Hi

I will PM.

Kate

My ex's niece has Williams syndrome, I have never heard of any cardiac problems meantioned, she is high functioning but you can certainly tell she has a mental disability, as well as those elfin features. She has a lovely, friendly personality and a great memeory she is around 35 now and for a while she moved into a shared house situation but is very much a home body and likes routine and does'nt do well with change so she did'nt last long, but certainly could have handled any tasks required as far as home duties went.
Best of luck, I am sure it will be a relief to know for sure.

Thanks Black Duckies. I am hoping so much that she is clear. I thought for a while that at least knowing would be helpful. It's just such a difficult road for her if she has it... I need to get my head right about it and it's a bit scattered really.

I personally believe that we are all just perfect and for me she is perfect. However, as a mother I want for her to have a full life. I need to adjust my definition of what a full life is...

Thankyou Kate for all your help. :hug:

My cousin's son has Williams. The initially thought it was autism but it turns out not. They are lucky enough to live in Denmark so have marvellous facilities and intervention (he was identified by age 2 and was having hours a day of one-on-one therapy from an early age). He's now 14 or so. I haven't seen them in years but when they last visited he seemed like a slightly odd 12 year old boy, but nothing more or less. He was affectionate, smart and geeky - if I didn't know there was "something wrong" I wouldn't have picked anyhing as being overly unusual with him. He's the oldest of 5 and my cousin has managed to do a degree in psychology since he was born so his condition hasn't stopped his family having a normal life. I do know he gets a bit obsessive - when I last saw him he was really into butterflies :)

Whatever the outcome of the testing, I can honestly say that I know that Immy will have the best life and the best of opportunities with you as her Mum. She's very lucky.

Thankyou Slyder (good to see you about again. )... That was a lovely thing to say...

I hope so.

When I was working in the States, I worked with a group of young adults with Williams Syndrome, and they were amazing. As well as being amongst the most lovely people I have ever met, the group I worked with wrote and performed a musical. If I can dig it up, I could post it out for you to have a lend. (not sure where I have put it) Yes most did have elf like features, and a an intellectual disability, but their musical abilities allowed them to function in a "normal" society and many showcased their talents to the generaly public.

What ever the outcome, I hope for the very best for Immy

I hope so much Immy is in the clear.... I can only imgine how stressful the waiting and the constant adjutsments to your famly life must be. We are currently being closely looked at for a syndrome ( I am still pregnant) so our waiting game will be a long one also.. I guess only time will tell, I will be keeping in mind the ear tag when she is born and I am sure it will be one of the first things I look for. (thanks for that little piece of info)

Thanks so much everyone. Blackduckies what are they querying with your little girl? Remember an ear tag is a marker - not a given... :hug:

Well I thought today that I would know definitively. Seems not. The dislocation on the 7th chromosome cannot be seen on the FISH taken. However, I have been advised that this does not mean she hasn't got Williams. :wall:

My doctor got me into see a paediatric geneticist in Brisbane - unfortunately the earliest time is 6th of January. I am on the waiting list to be seen earlier so fingers crossed.

I phoned the regional hospital where I live and they actually put me back to the Royal in Brisbane as they have a geneticist that visits and my Paed had me on the public list. Anyway the earliest I can see someone is 6 months.. :wall:

Anyway in the meantime I actually did speak with a geneticist. He explained that the test is done on a band & it is thought that sometimes when the dislocation is less obvious the banding doesn't show it up... I am not sure if I am explaining it so others can understand but I got it. He did say that a clear FISH does not exclude Williams. My doctor thought it did if there are no cardiac stenosis but evidently that's not so. Immy is having a echocardigram on Thursday - just to exclude cardiac issues. I cannot hear a murmur and trust me I have listened!

So, I have no more answers just more questions really. If it had been a yes we would be able to move forward but now we need more investigations. I know I sound negative - and I shouldn't be. It's just that life has been about finding the answers and it's frustrating.

When I know what it is we can know how best to deal with it. So we are waiting again...

Thanks for waiting with me and helping me thru. :hug:

you are obviously such a strong woman i hope you get an outcome very soon sweet :grouphug:

I just wanted to offer a big hug Inanna. I hope you get some answers too. Whatever the outcome your little girl is so loved.

Good luck, Inanna.
I hope you get some answers soon so you can start to figure out exactly what you're dealing with and educate yourself more.
I think the worst thing is probably the unknown :o
hugs

The unknown is always scary isn't it... I just need to pull on my big girl undies!
I really am feeling a bit awash with it all... I will work through it and feel better soon I know.
I am really praying we can get into the specialist before January. That would be good. It is going to be a very costly exercise going privately - but I can't wait 6 months it just wouldn't be fair to her. The sooner we know the sooner we get an idea of the best therapy for her to give her the best advantage in life.

I just wanted to pop in and say that you and your daughter are in my prayers and i hope everything is ok. You are such a strong woman staying so calm for your daughter
all the best xx

Oh Deb, I'm so sorry you haven't got the answers you need yet. But Imogen is still Imogen and all she needs right now is you, her family and all the loving she gets from you all. All of the answers you need will come with a little time, though it probably doesn't feel like 'a little' time. I can't imagine how frustrating and upsetting it must be for all of you :hug:

Lilas you are very wise - and that is so true... Sometimes the mountain seems high and it's really feeling like that at the moment. But she is healthy and she is mine and I love her to my core.

It just seems at the moment the Universe isn't wanting to give over any definitive answers!

Waiting and the unknown can be so hard..

Here is hoping a vacancy comes up sooner rather than later.

:hug:

:hug: sorry it wasn't more definitive for you.

Hun, I know that answers will help you with other decisions right now also, and I'm really sorry you still don't have them. I know you will cope with the wait because you are so strong, but I wish things were easier for you atm :hug: You are in my thoughts hunn, and I am praying for a cancellation before January.

I had a friend as a teen who had Williams. She was lovely. Very elfin features as you say, low-set but large, somewhat pointed ears, low bridge to her nose, long neck and sloping shoulders, quite short limbs and stature. She communicated well though lacked confidence (she had rather a horrible younger sister who always made her communication problems worse so we used to try to get away from her as much as possible!). She would be about 33 by now, and was dx by physical pointers rather than genetics - she was one of the unlucky one's and had a VERY impressive scar from open heart surgery when she was a baby.

She was a truly lovely girl, and HAD become wise to some extent about strangers/mean people etc. She had very pushy parents which i think really helped because her mother wasn't willing to hear "your DD probably can't xxx" and was always ready to help her dauhter find a way to prove em all wrong.

Last i heard she was about 23 and settling into a sheltered housing complex. She was studying at college, though i'm not sure what. She did have some retardation, but it came across when you put a column of figures to add in front of her, not in general conversation, iykwim.

I'm sorry they're making you wait hun, i hope they have a cancellation soon. Immy is a lucky girl to have a mummy fighting so hard for her. I think that your intial reactions (both to not worry about her and to wonder about the ear tag and what it means) can BOTH be correct - she might have something choromosomal going on in there somewhere, but maybe you also don't need to worry about her. Look what a child of the Universe she is - both blessed and a blessing for you all, a little miracle. Someone is looking out for Immy and you all, she could have so easily not come to walk on this dirt we all share, and yet she did, and i think that she's here for something pretty big, whatever you find out next will be just what she needed to be to do what she's here to do. All kids can teach us things but boy, she is really something! :hug:

Bx

Hi Inanna, I am so sorry for all you and Little Imogen are going through. Im sorry you are still waiting for answers and I am :pray: some answers come soon for you and your precious little girl Imogen.
I have been through the waiting, and in many ways still waiting. They were looking into Noonans syndrome with V when she was born, but have since agreed that she doesnt have it. She has been with her pead since being born too, so everytime I go I take a deep breath and hope that he is happy with her progress. For me I am hanging out for the day that my Little V proves all the Dr's wrong.
I truly hope you get some answers soon hun, I know how hard all this waiting is. She too has had her heart u/s done as well as kidney u/s done that all came back ok. The only thing with the heart was a small echogenic focus on her left ventricle, but isnt affecting her heart at all. They explained to me that it is like a feckle on your face but it is on her heart.

Hang in there hun, and know that we are here holding your hand. hugs

lol I had to find some humor in you saying I have to pull my big girl undies on!!!
I understand completely :doh:I have been pulling mine on for weeks now, not very successfully!!!
It is very easy to get lost in trying to find the answers and not enjoying what you can.. I guess in time they will present themselves, and in the meantime trying to make the most of everything. In saying that I am not good at waiting, I want the answer now. ( :rolleyes:she stomps her feet)
No real answers for us yet?? I am not sure if it is just precautions or whether they expect to find something else, but it is depressing to say the least and hard to enjoy the pregnancy..next step is another scan at 28 weeks, then if still no more can be found waiting till her birth??? No-one has given me any syndrome names, just that the problem they have found with her kidney is related to some syndromes??? At this time I am not asking, i feel it is one more piece of info that I don't need to know at this point, I would only go and google and wish i had'nt later, so until we get more definate answers I will wait it out.
Thinking of you & sending lots of strength and happy vibes.

I want to apologise for not posting in here for some time now.. It's been a challenging time & I've just had to deal with it my way. I don't get anxious or stressed generally & I have managed not to largely. Though I do think that I have really felt a bit exhausted & worn out. I have had so much going on!

Anyway Imogen had a chromosome microallay in late December when we saw a Geneticist. He observed mild dysmorphia (she has small eyes with epicanthal folds, tiny low set ears, she is so short she isn't on the centile chart and weighs just under 10kgs, she has a long smooth philtrum {the space under her nose} a tiny mouth, widely spaced teeth. She has developmental delay that is global, gross speech delay, a funny little gait where she is led by her head...

BUT she is my beautiful gorgeous amazing baby girl who I love more and more every day. I have come to peace with knowing she is what she is & I will give her the best opportunity I can in all aspects.

The Geneticist examined all of my children & noted the marked differences - but also the likenesses as well...

Anyway the results are in. She has an interstitial deletion of 3q28. Basically meaning part of the top arm of her 3rd chromosome is missing. This results in mild to moderate mental retardation, "small people", autisitic traits, eye and ear problems & cardiac issues. Thankfully she has had a normal echo of her heart so things seem to be fine there.

It's been a lot to swallow - due to the rarity of her disorder (there are only 5 documented ) it's really difficult to compare her & have any realistic idea of her prognosis...

On wards and upwards. I have been linked with Unique which is an organisation in the UK that deal with rare chromosoomal abnormalities. As yet they have not much on Immy's problem but are looking into it for me.

Thankyou all for your support. :hug:

Good luck with the road ahead, Deb. It's good you have some answers, and she has the best chance she could ever hope for with you, there can be no doubt!

That's a beautiful thing to say - thankyou so much... :hug:

I absolutely second what Slyder said. Little Immy has the right person to be her strength, though I'm sure she is pretty strong herself.

:hug: Deb.... I'm struggling to find the right words to convey what I'm thinking but I'll try...
I guess when you have those kind of tests, even if you know *something* is up, you hope at least to get a name, a prognosis, a treatment plan or even just an idea of what you can expect. And yet you got none of those things. Just an even bigger mystery and confirmation that Immy is even more of a special little soul than you knew.
Challenging is an understatement. Possibly the understatement of the decade. Expectations give you a guide, an idea, a way to orient yourself, a sense of what's possible. They also create a limitation, by giving you a sense of what's impossible. So in a sense while you can only go deeper into the mystery, you are not constrained by a sense of what Immy can and can't achieve. Everything is open to her. Your path together will truly be one of a kind. I really feel you have been chosen for this. I can't think of a better person to take a little girl by the hand and lead her safely into the unknown.
Many hugs, prayers and thoughts for you xxx

:hug: Hun, I am so glad that at least you finally have the answers. There must be some comfort in finally knowing :hug:

I am sorry that it is such a rare condition that it will be hard to get good information about it. I can see that in some ways that might be a good thing - you can discover all the wonderful little unique traits for yourself - but in others it will be tough. I hope that you are able to find the support that you need. I know that Immy already has from you :hug:

On the veryt bright side, the fact that her echo came back normal must be a great relief.

I am glad that you now have sometimg to go on, and now can work at giving her the best chance in life

Hugs she is a very lucky little girl to have such a strong, caring mother.

I hope it helps you to finally know what you are dealing with. Good luck with your journey.

xoxo

Thanks gorgeous ones. It doesn't help as the prognosis is from mild to moderate mental retardation, cataracts, cardiac failure, joint pain, scoliosis .... But I can't define the chances due to only having 5 cases. 2 of which died before 2yo... :cry:

Immy is healthy though... Aaaaah my son said tonight: "why did she get chosen for this"... I said: I am not sure but there is a reason that we have been chosen to love her & to help her...

It's true isn't it - there's a big picture...

You have such a wonderful outlook on things hun :hug: You are truly a very special person.

Immy has certainly chosen the right mother :hug:

You are an amazing mother Inanna together you can face the challenges and find your way through, and we will be there by your side when you need us.

Well you just made me cry Beema... :hug:

i am in awe of how amazing you are..
you inspire me so much, not just from what you are doing for you fabulous daughter, but just your outlook on life and your positivity.
i wish i had 1/1oth of the positiveness you have..

you will guide immy through everything with grace and love, and to be honest that is the most special thing you can do for anyone and it is something you excell at.

yes you have been given a diagnosis which is rare and with very little known about it, but you will face each new hurdle with love and you will be positive towards it all so immy will never have negativity surrounding her and her condition she will never feel different and never feel abnormal, because to you she is special in everyway..
and to all of us she is special and no different to any other child, she is herself and you have always inspired me to believe that everyone is equal as we all have the same begining we just walk down different paths..