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.
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...
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.
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..
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...
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
hugs
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