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: