Today we had one of those very rare appointments when we came away feeling that we were one step closer to understanding our children's conditions. Our daughter's genetics appointment was both interesting and enlightening. Firstly, we heard how recent advances in genetic science will help analyse our son's chromosomes in far greater detail than previously possible within the next year or so. For us, hearing that there are still possibilities of finding out his diagnosis is a very positive thing. People are often dismissive of his disability simply because we don't have a name for it: "he'll grow out of it" or "he's just a bit slow" being some of our least favourite phrases!
Aside from that piece of information, the geneticist took a thorough look at our daughter and noticed a number of minor anomalies which, taken together, might help him to identify a specific genetic condition. We have now discounted our earlier suspicions of Foetal Alcohol Spectrum Disorder (as our daughter is adopted, we couldn't rule this out, but recently found out that her birth mother drinks very little). The possibility of either substance abuse or medication causing our daughter's condition has not been discounted, though the geneticist felt that a genetic syndrome is a more likely cause. He noticed how short her thumbs were, something I hadn't noticed myself until it was pointed out to me. He also noticed her long head and general floppiness. Then he pointed out something that explained so many things to us - her palate doesn't move!
All of a sudden my husband and I have an explanation for why she struggles at mealtimes, why until recently she would only eat soft food and why her behaviour would change for the worse every time we sat down to eat. Because of the problem with her palate, she finds swallowing uncomfortable and difficult. Knowing this will help us understand her difficulties and work through them with her, without getting stressed because someone's telling us how naughty she is being at the dinner table.
That little piece of information is a gem for us...