Williams Syndrome

[Inanna]

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.