Never Enough

 

Saw the specialist about working on a clinical diagnosis for the primary genetic suspect. They examined me carefully. They agree it's a possibility, albeit not a for sure slam dunk, there is some doubt, but not enough to make it a no...if that makes sense.

 

A kind of too much yes to be a no, but not enough yes for 100% certainty situation.  

And I would need biopsies to confirm things from a clinical angle, which has some downside in my situation. So they suggested the genetics testing is probably still the best avenue.

So I'm not normal, something isn't right, but I'm never abnormal enough. I'm in the ballpark, in the game, but I can't ever get to home plate. As usual.

Argh.

In talking with patients, I need genome testing, not exosome testing, which is what's in the works now. So this is going to take a while.

I think I've ranted here about how long medicine took to wield science on my behalf, that we could've known everything in thirty days with a concentrated effort. Well, I have to amend that. Thirty days only if the top level, least sensitive genetic testing comes in hot. If it's flakey, you'll need six months to a year to get through the various levels of advanced testing. 

Everything else, blood work, MRI etc...the criticism on time stands. We could have figured out a lot in thirty days. I just never had anyone bother to try until my body forced me fight with doctors in an effort to be able to eat.

I'd really like to see a flipped classroom model of medicine. Let patients test and utilize doctors to help sort through all the noise.

Oh but false positives. Oh but bite me. 

I looked at some of the literature on false positives and MRIs and you do realize the data is largely for knee injuries and low back pain, right? It would be dumb to extrapolate from a few bones to everything. But that's what we do for some stupid reason. My liver has not one bone in it.

And then there are the studies that...get this...only selected healthy patients with no health complaints. What a way to guarantee your preventative image study shows nothing. It reminds me of the 1990s study on uterine cancer...in men.

 


Important distinction: Preventative imaging, to me, isn't about imaging people with zero complaints. It's lowering the threshold to access imaging so more patients qualify to be sure we aren't missing something in patients symptomatic enough to seek care. 

I'd love to see a preventative imaging study on folks with lots of symptoms. That'd be interesting. Pair it with lab work too. With post Lyme symptoms, they've found a lot of folks (not all, but a lot) actually have another disease process that's active. Like, let's diagnose stuff, yeah? It's there. We can totally do this. But no. Medicine has decided it's more important to demonize Lyme patients and let a few egregiously poorly behaved ones dictate what happens to everyone.

(As evidence, I submit the teen's rheum very precisely and very emphatically telling us there was no reason to come back now that we'd done the antibiotics. Like, they were very obviously and very intentionally trying to defend themselves from a crazy Lyme bounce back. No interest in follow up. No interest in persistent symptoms...because of course, they can't exist unless medicine says so. Meanwhile, my teen is at the two year mark of fever and joint pain while already having an underlying neuromotor issue. Can you imagine how awesome dealing with medicine makes her feel?)

Someday when I have unlimited free time and a lot more energy, I'd love to go down the list of studies on preventative imaging. I haven't found one yet that makes me think there's merit to the false positive excuse. Maybe it's out there and I haven't read it yet...who knows. 

But out of grandparents and parents and me,  42% of us would have lived longer or had better outcomes with preventative imaging. It goes up to 57% if you include the grandparent with likely hyperaldosteronism (but they really needed blood work, imaging isn't the primary diagnostic route, however, imaging was how I knew my suddenly high blood pressure was hormonal because I knew there was an adrenal tumor so...).

I get that anomalies happen, but I'd like to see this idea of preventative imaging being total garbage more heavily reflected in my family. But it's not. Why is that? 

What if we asked the question for every MRI that found something actionable, whether an MRI earlier on would have improved the outcome (less meds, longer/better life, less surgery, lower costs) and then tallied the responses? That'd be hella interesting to see, don't you think? It'd be a very passive thing too. Program it in the medical records software, make it part of the SOP for every patient. Do it for a year, crunch the numbers, and I bet we'd find some new perspectives.

Anyway, between that appointment and taking the teen to a thing, plus even working a bit, I'm whatever level of knackered roadkill is at. On the positive side, this day had a lot of balance. I did a lot. I'm not sure it's an improvement in overall capacity, but I at least touched most aspects of my life and was productive so...yay me???