POSSIBLY INDICATIVE OF MITOCHONDRIAL DISEASE, BUT NEEDS FURTHER TESTING TO CONFIRM.Of course! This is after all, only a slight variation of the "ABNORMAL, BUT NONSPECIFIC" that we here at the Journey are famous for.
Our pediatrician called me yesterday and read the official report to me, which noted a decent sized list of abnormalities in her muscle tissue at the microscopic level, though, evidently it was not quite enough to say with any certainty if she does or does not have a mitochondrial disease. It didn't rule it out, though.
Normal people hope for normal test results, negative test results; we hope for test results that are abnormal enough to give a crystal clear diagnosis for once, one sparkling, shining, this is what your child has, diagnosis. It may not even exist, we may always live with the questions without answers, we might always start conversations about KayTar with, "Well, she doesn't have one broad umbrella diagnosis, but..." In truth, I earnestly hope it does exist and finds its way to us one day, a cosmic path crossing in which the Universe slips an envelope into my hand, whispering, "This is it. Really it." before continuing on its busy way.
22 comments:
I hope that envelope arrives any day now.
And what a beautiful sweater on your beautiful girl.
sigh...and away you roll, pushing forward, answers or no.
Ugh. I'm sorry.
I keep thinking there's a real life Dr. House who can solve all your problems. However, he may just want to cut the top of your kid's skull off to make his diagnosis, so then again, perhaps, NO.
She is a mystery, that one.
Someday, you will have an answer.
it has got to be so hard, when all you're asking for is clarity and you can't even get that.
your mystery, your little love.
Completely off topic, but is it right or fair that a sweater that fantastic belongs to a Texan. It's minus 27 here today.
Oh, how frustrating.
After a three week hospital stay, the doctors shrugged their shoulders and sent my fil home with an antibiotic.
ugh.
I'm sorry about being so far behind in emails. After this last unexpected surgery of Parker's I've had a bit of a road getting things back up and going.
Will further testing really confirm it? I hope you find the answers soon!
*heavy sigh*
I'm sorry.
as an aside, that is the perfect picture to go with this post.
Of course that was the result. Perhaps, once her balance improves, KayTar has a future as a tightrope walker/ -- she seems able to straddle the thinnest of boundaries without ever tipping onto one side or the other.
Of course, if you do get an answer, yo uwill likely still find yourself having to explain ecverything, since people who will know about something like mitochondrial disease are few and far between... sigh. have you looked into a tattoo for this?
But, oh, I love her sweater, on a total side note!
I hate ambiguity too. I hope you get a clear answer (and an easy one at that) soon.
well, shoot. I wish it was a SOLID concrete answer, but hopefully this will lead you *somewhere*.
Well, its a twist on "she's an enigma".
Oh, honey. I hope you get your answer soon.
Gah!!! I just knew this was going to be "it." Crapola! Are the geneticists going to continue keeping Kaytar's file on the front burner?
Argh. This must be so frustrating. Every post I read, I hope you have an answer. I can't imagine what it's like for you.
Fingers crossed.
peekaboo.
what a perfect photo for uncertainty. what a perfect photo for the perfection she is. Much as it drives you slightly mad.
Oh, but imagine how much less exciting your doctor's visits would be if you could just spout something like "Oh she has mitochondrial disease" instead of listing off 25 different random ailments. :)
Love you girl. Any news on the allergy front?
...a cosmic path crossing in which the Universe slips an envelope into my hand, whispering, "This is it. Really it." before continuing on its busy way.
You really are such a good writer Kyla.
I'm sorry it was so inconclusive!
ah Kyla she is nothing if not consistent!
I understand. My son has Autism and we went through many things to get his diagnosis.
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