Genetics

 Saw the geneticist a while back.

TLDR: To paraphrase: "You're really f*cked up. You need all the tests we have."

The volume of information covered in the appointment was overwhelming. My head is still spinning. But as usual, even though the world tries to convince me I'm crazy, I am in fact, correct. It's very likely this is something genetic and I should have been referred a long time ago. 

They were appalled at some of the things I told them. Hubby keeps cracking up every time he remembers the looks on their faces when I explained yet another really stupid gap I fell through in the healthcare system and the times I ordered my own labs because no one else would (because they asked me if they'd been done and I was like, "yeah, by me because the ER ignored me when I requested it and the primary wouldn't order it so I just did it myself").

I am waiting for the first round of labs to come back, which will determine whether I need the exome testing.

It's still possible nothing will ping, I'm trying not to expect much, but the stuff they talked about and the reading I've done on it...wow, I really check a lot of boxes for some weird ass shit out there. It might not be VHL. There are some other tumor things it could be. It seems like I have a lot of big markers of a lot of different things so it's actually confusing af. 

You'd think it would be cut and dry, that you'd be very much in one box, right? Not meeee. It's so weird. I thought things would be more concrete. Maybe that's normal. I don't know. They didn't say it was unusual, so maybe everyone with weird shit is like this.

But it'd be great if medicine could master the basic algorithm of growing lots of tumors, lots of places = needs genetic testing. Like, it really isn't hard, guys. It's just not. If this, then that. There aren't any rabbit holes or detours to get lost in.

And if medicine isn't going to get better, can patients at least have as much direct access as possible? The answer to the concern about false positives or misuse of testing isn't to deny patients autonomy, it's to develop better systems. So fix it already.

Do you know how much faster I'd have been diagnosed if I'd been able to just test and get imaging? I may have been able to avoid surgery! I might have been healthier with less disruption to my life! I've lost days and weeks and months to this shit mostly because medicine is slow. 

But noooo, the gatekeepers with god complexes need to smack patients with their dicks or something.

Over it.

Anyway, the appointment was both a source of validation and stress. I had a huge adrenaline hangover afterwards. I'm still gobsmacked...days later. I don't know why. Maybe it's the gaslighting...the years of being told no no nooooo and then suddenly someone else sees it too, and I'm not alone.

If only it hadn't taken four years...