My mind was swirling! New technique? What could that mean? For a moment my heart raced and I allowed myself to wonder if this new technique could somehow be a "cure". I abruptly stopped myself from prancing any further into that fantastical dreamworld and instead picked up the phone to return the call.
So the new technique isn't a miraculous cure. It's a new test that can look more closely at Kasia's chromosomes - more specifically at the deleted section, and pinpoint exactly how much genetic material is missing and maybe even which genes are located within that missing section. And of course, the same goes for the duplicated section. What's hiding in there?
Great. Science is amazing, but what does this mean for us? Does it mean we'll now get even more bad news? Like maybe she's missing the gene that stops everyone from turning a lovely shade of magenta when they reach the age of five? Or maybe the gene that would've allowed her to speak fluent Dutch one day has gone astray. I guess what I'm saying is, how much do I really want to know? Will her kidneys become diseased and shut down by the time she reaches 15? Or is she more susceptible to certain cancers because of her genes? Granted, that's all good information to know, but....
So I started wondering about their motivations. What would really encourage them to do a $1,500 out of country blood test on a child who already has a diagnosis? And then I recalled our last visit with the geneticist.... and her voicing a desire to write an article about Kasia for a medical journal. Kasia's genetic profile and expression of the syndrome have been different enough that her geneticist thought an article was warranted. And though I'm sure they've started writing it, I haven't yet agreed to this article, but I'll just bet that some in-depth chromosome mapping would make it all the more juicy and worthy of publishing.
What to do?
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3 comments:
Wow, that's a tough question. I wish I had some magic insight or words of wisdom. My best advice is to pray about it. Goodness knows we did that about getting an amnio. Do we want to know or not? For us the answer was yes, but for many it is no. Prayer was our answer. I hope you find yours.
Thanks Jeanette, I keep thinking back to your Healing post - where you said that you didn't pray for your daughter to be cured. While I agreed with that wholeheartedly, isn't it funny how my mind still jumped out to the imaginary fantasy of "a cure" after that phone call.
Thanks for the support.
I have no advice for you but I don't think that's what you're looking for anyway. What a tough call - I would have no idea what to do. I've always been a big supporter of education and have never had a problem with student doctors sitting in. I always hope that maybe they'll learn something and do something wonderful one day.
However, this is different. Granted, some of the information learned might be useful and then again it just might give you more to worry about. There is such a thing as too much information. I would also have a hard time letting someone use my kid as their science experiment - unless it could be helpful.
Anyway, good luck with this decision. I don't think there's a right or wrong answer.
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