The Limits of Genetics and All My Fee Fees

 As I have mentioned several times, genetic science is nowhere near as far along as I expected. 

And there's still gatekeeping that prevents free access, which I hadn't realized. I thought that genetics testing was genetics testing. But no. You still have to qualify for things and you can still end up in a situation where the physician doesn't see it, at which point you're SOL.

I don't know how geneticists have much ability at all to recognize thousands of rare diseases they haven't seen, but the system says they do. So here we are.

(And that's not a dig on my geneticist. I like them. They're nice and sincere and I appreciate them. My criticism here is structural, not specific to a particular physician.)

My health history has been input into a 'calculator,' and because the calculator says my odds are 4% of xyz genetic fuckery, I won't be tested. Even though I have specialists who think I may have the thing.

I can only be tested for things with high odds. (I am unsure of the actual threshold, but it's definitely not 4%.)

Like, I get the economic and time constraints that limit medicine. We have chosen to NOT develop an infrastructure that can truly take care of everyone. We have limited capacity. 

Yet every person needs and deserves 100% access. The economics on an individual level are in conflict with the economics at a societal level.

The distribution of science access along a bell curve isn't really efficient or effective for individuals. Our choices here have a death rate. Someone has to lose. Somewhere we cause harm to someone.

And our choices concentrate that harm on the outliers.

Our system is not benign.

Someone out there is positive with  4% on the calculator.

What we're really saying is it's okay to let people fall through the cracks so long as it's a small number. If you're an economist, or a hospital or insurance CEO, this is fine. You'll make bonus.

And you'll never have to think or see or know about the people you've condemned to a poor outcome.  

The system has chosen to set it up this way. Society chose it. We've decided it's fine if not everyone does well. The people who witness the negligence, who see the human cost, have little to no power. That's by design. Change would be expensive. Unprofitable.

So, calculators for everyone. You're a number. And you're a number. I'm a number. We're all just numbers. Binary bits of data missing a heart. So long as the numbers come in small, it's an acceptable amount. It doesn't matter how big the lost lives are--that's not part of the equation.

But I have been the outlier so often that I'm not willing to assume faceless aggregated data crammed into a 'calculator' because of resource limits and profit incentives* has any accurate idea about me. I'm more than an arbitrary algorithm.

Yet once again, I am stymied by gatekeeping in medicine in the service of profits over patients.

I think the next step for me is to pay out of pocket for private whole genome sequencing. It may show nothing, maybe I am in the 96th percentile of normal after all, but I want to know.

As for the rest of the results, I am waiting on reports and papers and then I'll write up a whole deal for those who will come after me. At some point I suspect people will be looking for information on some of my BS.

 

So far nothing will change my care however. It's just a lot of novel data points. For now at least. In 5, 10, 15, 20, 50 years they may have more to say about it.

I do think it suggests there's a theoretical risk my kid could have similar tumor issues. So I got at least some clarity on that. But it's not specifically tumorgenic as the knowledge stands now, so hopefully while her overall risk may be higher, it's not a certainty.

Or maybe they'll learn that CHEK2 in combination with my other mutations ARE tumorgenic. But we are likely decades away from knowing that.

Asthma shmassma update: 

Dinner last night turned out. I managed to cook. Hubby was already taking a half day and came home a little earlier than planned to pick up some of the kiddo schlepping to give me more time to recover.

I made harissa ground beef pitas with cucumber tomato cilantro relish and yogurt sauce. I was not super impressed with the harissa spice blend myself, but my family loved it so it's all good. We have a fantastic restaurant here that has amazing harissa and I don't think anything like it is commercially available. That was the harissa I was aiming for, but I missed. Oh well. It was good enough. Nothing wrong with that, right?

The asthma is less of a bitch today and my energy was really good this morning. I slept well aside from some hip pain** waking me up. So far I've worked, done laundry, and dropped an experiment in the crock pot. At the moment, I'm resting, trying not to wear myself out. I'm starting to feel a little tired and I have irises to plant later today--that's the big goal.

 I'll keep up with the pulmicort for a while just to be safe. It's working and I don't want to backslide again.

As for the fatigue...it's interesting to me the way covid is legitimizing chronic fatigue syndrome. As I watched long covid develop in real time, I realized, I've had long covid since before covid. But it's all tangled up with the tumors so it's hard to tease out what's a post viral syndrome vs. me being a really fucked up zebra. 

I have no plans to pursue a chronic fatigue diagnosis. There's not much treatment. And there's been a benefit (for me) to not having a label. I didn't know better so I pushed harder. I've done more as a result. I don't want to lose that and I've already designed my life around my limitations.  

I'm very fortunate I can mostly rest when I need to. 

Even before covid, I was already pacing my exercise. I could go hard, but then I'd need a full day of recovery and the next workout would have to be very light. I never pushed. I listened to my body, and I found workouts that were less depleting that could also build strength. I had a balance.

Right now, I'm at a stage where I'm just trying to get back normal daily life. Exercise isn't even on the list. Maybe this fall I'll start walking a bit. I'm hoping that will pan out.

I imagine the pulmo would be 'this is sleep apnea' but eh...as someone who is tired a lot and has a lifetime pass for the health struggle bus, it's more than that. Particularly after such a stubborn asthma episode.

Okay, on to the asterisks and let's wrap this thing up! This post got long. Sorry!

*But false positives, patients will be subjected to over testing, but but but. Stop infantilizing people. Stop concern trolling. People have a right to know even if it's confusing. Even if it's not turnkey. We're so sure this is all poor outcome and no benefit, but we've literally never tried it. Maybe question the premise a bit. What's weighted more in the decision tree...

-limited capacity and resources,

-profits,

-over testing?

And might there be a profit incentive to prevent knowing more about our health? Money leads. Projecting onto patients or care providers is a divide and conquer diversion tactic. If physicians hate patients, and patients hate physicians and we have in groups and outgroups among care providers and we concern troll patients with 'oooo over testing bad and costing you money'...who wins?

What's the fix? I believe the start is unions since we are unlikely to get meaningful government regulation in the current environment. Physician, nurses, aides, techs, RPT, PT...they all should have unions that can ensure higher pay and push back on the corporatization of medical care. It won't be perfect, but undermining and invalidating the current power structure is a good first step. The status quo needs to go smash the patriarchy style.

Then more patient activism, which is hard because we are tired and everything is harder for us and we lose so much time to appointments, but we need to somehow do it. Somehow.

And also the world need ethical billionaires who use their capital and leverage to create win-wins throughout their supply chain. I've cut business deals. I've managed large multi-million dollar projects. I always balanced the profit with what the right thing to do was. It can be done. It's unusual, but it's really about character at the root. It requires you to care about the quality and impact of outcome as much as you do the profit. 

We have really shitty people hoarding capital and power and not caring who they hurt, not caring that it's not sustainable even for them personally. They lack the integrity and imagination to even attempt to do better. These are not the kind of people who should have all the money in the world. 

I've rubbed elbows with some very wealthy people and politicians. I've seen these operators up close. They're like cockroaches. For every one you see, there are 10,000 more gobbling up with they can without any regard for anyone else. 

Because aside from names you would know, I've met the same kind of people in every walk of life. From preachers to CEOs. I've seen them steal, lie, cheat. Go to jail for financial crimes. Prey upon girls, which is never punished. Behave like absolute jerks, also never punished. 

I haven't met any who deserved to be rich. Not one.

Let's stop giving cockroaches all the perks and free passes. Let's become allergic to Trumps and Putins and Orbans...something that would be a major evolution in our species' social dynamics. Strongmen don't make anyone strong. Let's try valuing competence and science over money and power. See where that takes us.

**a sign I've either been slacking on my PT exercises or overdone it (when covid isn't in the mix).