Thankyou for your replies. I am sorry it's taken me time to respond. Some have been confronting to me given recent events...
Last week at Immy's Paed appointment he broached that he is suspicious that Imogen may have Williams Syndrome. Williams Syndrome is a random genetic mutation deletion of a small piece of chromosome 7.
I have believed from birth that Immy had a chromosomal issue. This was brushed aside really in the fight it was to keep her alive. I guess that became not important. Immy had a skin tag on her left ear. (for those medical people skin tags often come along with chromosomal issues) Given my experience in this area when I saw it I just knew...
However, maybe he is wrong. I pray so! Williams kids usually have mild to moderate mental challenges (I detest the word retardation). They are low birthweight (Immy was 815g - with an expected weight at that gestation to be at least 1200g) - though due to my health issues and a very poor placenta the weight was more likely due to that.
Immy was slow to gain weight. Despite feeding frequently and being fully breastfed. She just didn't gain. To the point where I stopped weighs as it was too stressful for me and thus her. She has had frequent ear infections, they have a ****tail party personality - which is difficult to miss with Immy. She loves everyone and laughs and smiles at all. She will go to complete strangers with out a thought. This James tells me is true of all Williams kids. She is short stature with a typical elfin face. She has the epicanthic fold that is a feature of many "syndromes"...
The high calcium levels she had at birth we put down to the stain on her cardiovascular system due to her prematurity and thus breathing issues. However these are also a hallmark of Williams...
Anyway James has thought this for a while and was cautious about broaching it... However, there was a sense of relief as well. That finally there was a reason...
However, having said all of that I can say that I don't believe it is possible to love another human as I do her. I am in awe of her strength, courage and happiness. She is still my little Immy - she has come with challenges - however whatever they are I will walk them with her. So will her sisters and brother.
Tomorrow she has the bloods taken for the FISH and karotyping. A test I have taken and done on so many people. Tomorrow it's on my baby girl...
This time next week we will know. Say some prayers for her.
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