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.
Last edited by Inanna; November 26th, 2009 at 09:00 AM.
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...
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.
Williams Syndrome
Reply With Quote
Bookmarks