Information Isn't an Answer

The first round of genetic testing came back. It was...interesting.

First, the geneticist has lost all interest in me. We went from 'we're gonna do this and then we're gonna do exosome testing and then we even have thoughts on what to do after that' to 'meh, you can do exosome testing if you wanna'. Always fun to realize you were just a physician's bright new shiny and now the shiny's gone and you're of no use to them. The light just goes out of their eyes... and I realize I was just a novelty. A plaything. And I've failed to satisfy.

Some things did come back. It wasn't a total loss. My parent will be getting tested. I'm supposed to have some additional testing, but no one has followed up with me on it yet.

There were some things that were just plain confusing.

And it looks like they didn't test all the genes for the hepatic adenomatosis. Just the ones associated with glycogen storage disease which isn't everything. Sigh. There I go again, assuming a physician will actually be a topic expert and nooope. So I have to work up the energy to go back and be like 'yo, did you hear about this gene and can we test it?' which has a 50/50 shot of being well received, or marking me forevermore as the most annoying patient ever. God. The medical minefield is so exhausting. I always have to be on top of all the things and I never know what will blow up in my face. 

No one's education or expertise is as good as a patient's own self interest, but woe to the person who tells the doctor that.

Anyway...I'm a recessive carrier for GSD 7, which isn't supposed to mean anything, but in the patient world, we have folks who are symptomatic carriers who compare notes. It'll be interesting to see if science ever connects the missing dots between data and patient experience. I'm not sure, at my age, if I get to live to see it though. 

I came back positive for CHEK2 which is interesting because it's more common than BRCA, which I think most everyone has heard of, but it gets no press. It's big enough for patient communities to spring up, but it's far from common knowledge when it probably should be.  The other interesting thing is I have very little cancer history in my family, so it's kind of wild to somehow have a genetic increased risk of cancer.

It makes no sense.

There's something going on with the hyperaldosteronism which is why my parent is being tested. I'm confused on why I didn't get any genetic information on that. Did it not pop on testing and we're proceeding based on family history? I left the appointment and was like, wait a minute. One of those head smack things you think to ask about well after the fact.

None of the tumorgenic stuff they looked for popped and I was told it's still hard to get reliable testing for some things, that they still can't see all of the gene. So all the tumors and cysts are still one big giant question mark. Still. Jesus. That was a surprise to me. I thought genetics was further along than this. Guess not. All this effort and still no answers. Suckage.

There's one specific thing that fits with my family history that can be established with clinical criteria, though. I don't know if I have it, but I want to be sure since it has some risk if left to hide. So I'll be eventually pursing things from that angle instead of genetic testing.

I will proceed with exosome testing at some point too, despite the geneticist's newly minted total lack of enthusiasm. I'm waiting for my parent's testing and then the follow up testing they wanted me to do and then I'll start getting the exosome stuff going.

I'm still recovering from Covid. My heart rate is normalizing. I'm getting an average resting heart rate in the 70s and the spikes aren't much more than 20 beats over baseline. Oxygen is wobbling but at a higher vibration (to sound New Agey). Instead of 93-95, my O2 now vascillates between 95-97 which is progress. 

I still get very light headed and feel like I'm going to pass out with activity...I do a lot of leaning or scrambling to sit until my vision clears. I had this before Covid but to a much lesser, much more mild degree and it makes doing anything an interesting Olympic event. This is as close as I've ever gotten to passing out.

I am also tired. So. Very. Tired. I hear this is common. I'm trying to roll with it and chill, but I'm kind of tired of the treadmill that is illness recovery in this flesh bag. I don't have the heart for it anymore. It almost feels pointless given that it's just a matter of time before people in my household re-infect me.

Covid is also still eating my nerves and joints. It's not that the pain is bad--during the day I deal with it just fine--it's that it disrupts my sleep. My brain thinks I'm being attacked, sounds the alarm, and I am woken up to defend myself against a non-existent boogeyman over and over and over again. 

I got a Fitbit to track my recovery, and I'm waking up 15-20 times a night. I don't always remember them all, but when I wake up in the morning, my overall impression of my night is that I was in pain the whole time. It's not pleasant or restful sleep. 

I'm doing stretches, PT exercises, massage etc, etc, etc... I like sleep so I'm really hustling for it, but I can't seem to win on this.

I'm tired, man. So tired.