A New Diagnosis?

This doctor that we saw today was very nice and helpful as when she spoke to me of what she wanted to test my son for was not his original diagnosis that was made to us 16 years ago.

As I sit here in the dark feeling heavy-hearted, I think to myself that I have been here 16 years before. It might not seem like a big deal to most people but, it is for me and now as my son is older for him as well.

The testing will be to see if he has DiGeorge Syndrome. DiGeorge Syndrome affects 1 in 4000 births. This is an inherited condition that stems from when part of the DNA on the chromosome 22 is missing. This syndrome lies at the more severe end of a spectrum of syndromes. They often refer to it as CATCH22 or 22q1102. I found this information on the BBC health website as this was the starter for my research.

Although, this diagnosis doesn’t change the problems my son has, it does change in my mind that all this time I was somehow mislead. I know that 16 years ago medicine was different and the knowledge has increased and his syndrome does not define who he is but, what he has. Still, the guilt of knowing that this is another inherited syndrome does not help my heart or my head.

My son has taken it very hard and although it is yet to know if he has this syndrome but, still feels very confused as he doesn’t accept change very well. I try to console him but, to no avail my efforts have failed so therefore I feel as if I have failed him once more as a mother. I am at a loss of what to do, think or feel at this point.

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