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Scheherazade in Blue Jeans
freelance alchemist
I hit the doctor jackpot. 
21st-Feb-2014 02:33 pm
MLP: Pinkie stars
I've been dreading today's appointment all week. Yesterday, in particular, was a bad day. Why? Because I am a medically complex patient, and most doctors hate that. Most doctors also hate patients that won't let them interrupt, or that talk back, or... a lot of the things I do, basically. So random doctor that I'm given a referral for? Statistically likely to be dismissive or antagonistic.

Life is SO FUN when you are medically weird, right?

So yes. Today's appointment was with a geneticist. Because there are enough small weirdnesses in my body that they point to something. I know not what, but definitely some sort of genetic malfunction. Yesterday I made the big long list of everything weird. Today I walked in and presented him with it.

And his reaction was "You're a mystery! This is my favorite kind of consultation!"

Reader, I very nearly dissolved into grateful tears right there.

And he looked at everything, asked all the questions, was explaining connections as he saw them. I have never been measured that much in my life - proportions are key markers for a lot of things. He was casual, engaged, and from the very beginning came at this with the clear attitude that this was teamwork, that we were figuring this out together, that I'm an active participant and not just a bag of annoying symptoms.

"You're too damn smart, that's the problem!" Apparently I have a lot of markers for some things that invariably result in low intelligence and developmental delays - but aside from my lack of spatial skills, that ain't me. I am a puzzle! He will have to do research! But he likes doing research, and he wants to get started today!

This is fantastic, y'all. This is unprecedented.

So we now begin the process of making the insurance authorize a chromosomal microarray test, which is like and yet unlike sequencing my genome - the tests look at different things, and he thinks the microarray will give us best results. What we're looking at, almost certainly, is chromosomal microdeletions. Little missing bits. We may have to fight for the test since I'm over 18; insurance companies don't like genetics work for adults, but hey, we never got around to this so we're getting to it now.

Interesting things I never knew were medically relevant include my goosebumps and my scars. He saw the scar on my upper right arm and was like "THAT'S what I was looking for! Show me all your scars! Let me see your elbows!" He totally geeked out over my brachymetatarsia, which he'd only seen in pictures, never on a patient. Elayna's close resemblance to me is medically relevant. The angle of my lower arms from my elbows is interesting. Pupillary distance. (He laughed when he shone the light in my eyes - "Yeah, your prescription is ridiculous, huh?") And I'm glad I just went to the opthalmologist on Wednesday so I could tell him all about my fragile optic nerves and ridic disc-to-cup ratio.

My relief is huge. Yes, this is the year that we take care of all the background issues (next up: an orthopedist visit to fix stuff so I hopefully won't develop osteoarthritis, and the dentist) that have been left to slide because I'm so often presenting with something acute, and apparently it's the year that we finally develop the Unified Theory of Me.

And even better - this doctor also does primary care. Which is double bonus awesome because my primary care doctor just announced his retirement, and I was panicking over the prospect of a new doc who I wouldn't have as good a relationship with. But now I can have a primary care doctor who is also a geneticist and who I like and who likes me. *sits down because is overwhelmed*

I... I really caught a break here, y'all. I'm still in disbelief a little.

EDIT: Also I have been ordered not to do any "party tricks". There was a lot of "show me that thing you can do with your neck/hands/etc.? Okay now never do that again." I have to learn how to not lock my knees and elbows, so if you see me locking them, please point it out!
Comments 
(Deleted comment)
21st-Feb-2014 07:42 pm (UTC)
Right? So huge I barely have words for it. Y'know, despite all the words up there.
21st-Feb-2014 07:43 pm (UTC)
wow! Jackpot indeed!
21st-Feb-2014 07:43 pm (UTC)
I am SO LUCKY.
21st-Feb-2014 08:18 pm (UTC)
I love doctors like this!
21st-Feb-2014 08:40 pm (UTC)
You should dub him "Doctor Win".
21st-Feb-2014 08:41 pm (UTC)
Potential answers are awesome!
(Deleted comment)
21st-Feb-2014 08:55 pm (UTC)
I am utterly delighted for you. :)
21st-Feb-2014 09:10 pm (UTC)
Normally, "I've never seen *that* before" are not words you want to hear from your doctor...but when you already know that so much about you is such a medical mystery anyway, I guess it's good news.

Glad you seem to have found a medical professional who knows something about potential root causes for your various medical issues. Good luck.
21st-Feb-2014 09:49 pm (UTC)
Congratulations! A good doctor is a wonderful find.
21st-Feb-2014 09:53 pm (UTC)
This is so exciting. I had no idea you were such a total oddball!
21st-Feb-2014 10:00 pm (UTC)
That list is a long list!
21st-Feb-2014 09:54 pm (UTC)
That is wonderful news.
21st-Feb-2014 09:55 pm (UTC)
Neato! I'm glad for you.
21st-Feb-2014 09:57 pm (UTC)
this is one of the best things ever!!!
21st-Feb-2014 10:11 pm (UTC)
Mazel tov!
21st-Feb-2014 10:14 pm (UTC)
Finding a good doctor is pretty much like winning the lottery - glad you have found one! (He sounds interesting enough I'd love to see what he'd do with me - most of my oddities are not things that can be seen easily)
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