We had news from one of the many bits of blood the kid left behind in Sydney when the rest of him came home. This bit has been to Paris, and Parisian researchers have had a dashed good look at it. You can imagine them looking like the young Alain Delon if you like, or perhaps like Julie Delpy. They probably don't look like that,but we probably won't ever meet them, so we can think what we like.
The blood has DNA in it. The DNA tells the researchers that the kid does have some kind of interruption in a gene. The gene is a gene that other children who have had rhabdomyolysis have a disruption in as well, but not the same kind of disruption*.
On the one hand the information is completely useless. Taking care of the kid does not change a bit, we need to make sure he does not get fatigued, does not get too hot or too cold, does not lack for carbohydrates. We need to make sure that if he becomes ill we seek help and maybe extra intravenous fluids. He will need a lot of patience with a lot more medical attention that a kid would choose.
But it tells us something we didn't know. It's not just a coincidence. It's a particular thing. They still don't know, I guess, if it's linked to other things, but this thing, this propensity to rhabdoymyolysis, needs to be managed independently. Which is useful to know. Also, if they keep doing research, we'll know if it's relevant to us, and to what extent, so that is potentially helpful too.
And it's one of the few clear bits of information we've had. So even if it's not helpful, it's still good to know something instead of guessing and surmising and wondering everything.
Also, it means that a little tiny bit of the kid has been to Paris recently, which can't be a bad thing now can it?
*For some reason this sounds to me like the lyrics to a Billy Bragg song.
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3 comments:
I think it must be nice to at least Know something, even if it's not immediatly useful...I hope the kid is feeling better, and stays that way for a nice long while!
first, I love the utterly positive, cheerful, and quirky take on this - of Going to Paris, drop by drop! Do you mind if I ask - was this done via something called a "CGH Array", and did it take forever to get the results? I'm awaiting a similar DNA/ chromosomal analysis for my girl, and at first they said it might take 6 weeks, but we're way past that, and it now seems it may take as long as 6 months . . .
And like you, it's unlikely to change what we do day to day (unless they're able to identify a particular syndrome or name or disease etc - which seems unlikely - we're in the realm of what i like to think of as Rare and Wacky Disorders) but it may have an impact on the extended family. The neurologist rather "delicately" asked if we had "completed our family" (to which the ancient mother with one child with a severe disability and the other with a rare metabolic disorder said, um, Yes, we're done!) . . . and made it clear that their may be implications for letting others in the family know in case it was an inherited chromosomal disorder. I have lots of nieces and nephews in their late 20s and early 30s who are on the verge of parenthood, and so in some ways it seems these tests are for them; and indeed for Red should he decide to have children when he's older.
Dear Miz L - the answer is I don't know (the kid hates accepting that answer, so I'm sorry). Apparently this particular test for this particular genetic disruption has only been around for about 18 months and is only in research at the moment. I was surprised at how quick it came back - thought it might not be until the end of the year. The metabolic & mitochondrial testing we had done in Spain took months, and I swear that some of the kid's DNA is kicking around being tested still but god knows where. Don't have any other details yet, but will hear more from the geneticist when the husband and I have our tests done.
(This is me, Penthe, by the way. I am posting from work, shame).
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