I built an open source AI tool to find my autoimmune disease

I don't know if it was once different, but this seems to be a constant both in the US for-profit model and the UK not-for-profit one. After all, you are the person who knows you best, and has your own interests most at heart. So you need to advocate for yourself. Which can be extremely difficult in some situations, so you also need family who understand and are willing to help you.

Many people think that in the futuristic year 2025, the "system" of doctors and professionals and tests will be monitoring your body and health, keeping you healthy. It is nothing of the sort and possibly never will be.

We can improve healthcare systems, sure. But everyone needs to take personal responsibility for their own health. What is daily life-altering pain for a patient is just a JIRA ticket to a health care provider. No one is more incentivized than you to dig in and fix it.

This is in Australia.

Worldwide, doctors aren’t given the time to work through the issues properly.

The doctor's doing the equivalent of trying to diagnose and fix a bug where they're only given 10 minutes once a week to try and solve it (losing all their context in between) and can't directly check anything but the most superficial things. If they need more information, they have to refer the patient to somebody that can run check for one specific kind of issue in one specific place and will then provide a two sentence report back. Then they'll get another 10 minutes with that extra data point to try and come up with next steps. They can refer them to a specialist, and that person is going to only look at one small part of the context to try and come up with recommendations.

In this sort of setup it's _very_ easy to miss relevant information. Having somebody involved who is focused on the big picture and can surface relevant information and advocate based on it is really essential to getting the best outcomes.

And generally the only person involved to take on that role is... the patient. I don't think that makes the entire system broken, but it could definitely be improved.

The best solution I can think of is essentially to have someone with a medical background designated to take that role on your behalf. And apparently that's already a thing--a "case manager". (Though apparently in the US that term's been overloaded to mean "the person that works with your insurance company to do the wallet biopsy".) Though I haven't ever really run across anyone taking that role, and I'm certain wherever they are they're completely overworked and can't fulfill the role as effectively as we like.

I'm very much _not_ on the AI bandwagon and am really looking forward to all of this falling on its face so I can stop hearing about it and we can go back to finding solutions to problems instead of problems for solutions. However this does seem like one place where a LLM and adjacent developments could provide some benefit. A large part of advocating for yourself effectively is just knowing the right questions to ask and what information might be important to surface in the current situation. And all of this is being handed off to human experts, not being directly relied on or acted on by a laymen.

As a brief example: My wife developed a heart arrhythmia. The ER doctor was following the standard framework for dealing with this and was prescribing beta blockers and a blood thinner. While the ER doctor had a _lot_ of information in front of her face, what she didn't have was time to sit and dig through my wife's entire medical history. If she did, she would have found that the out-of-wack blood pressure readings she'd written off as "your heart's kinda fucked right now" were actually an on-going and previously diagnosed issue of low blood pressure.

In that moment I didn't need to understand everything or make any concrete recommendations, just make the connection "slower heart = less output?" + "already low output" = "problem?". Surfacing that information and asking the doctor whether we should be concerned didn't set the direction of her treatment, but it did change it. The doctor went to consult with a cardiologist before prescribing anything and came back with a different treatment plan.

It definitely seems like an area playing to an LLMs strengths (digesting a bunch of information and trying to relate it to the situation at hand) while avoiding the pitfalls. Ultimately everything is still in the doctor's hands, and the information it's giving is purely _additive_ and already being treated with suspicion. Even if it misses or hallucinates something we're not much worse off than we were without it.

We have a rather high overhead ratio in play. 1.1 million Physicians made a median salary of $239,200 in 2023, or around $263M.

U.S. health care spending grew 7.5 percent in 2023, reaching $4.9 trillion or $14,570 per person.

That's about 5% of healthcare spending going towards actual physicians. The logistic exigencies of dealing with insurance companies, seeking permission to treat, justifying, arguing, interacting with medical secretaries, is something on the order of an additional half of the typical doctor's time. They are strongly disincentivized from seeking out low probability explanations using tests which they need to seek permission to apply. They barely have the time to re-familiarize themselves with your chart.

We locked down the supply of physicians in 1997 via Congressional limits in how we fund medical residency slots. We further restrict physician time with problematically low rate setting in Medicare/Medicaid compensation, relative to market rates.

Everybody dies eventually. Everybody has healthcare needs.

A very large fraction of us will at some point suffer from some uncommon or rare condition, something that a physician doesn't see every day - a "zebra" rather than a "horse". There are enough of these conditions - tens of thousands now recognized - that the very low odds of having any particular problem adds up to high odds of suffering from at least one.

To recognize some of them, the doctor would need to synthesize an idea from half a dozen disparate pieces of information, two of which you've mentioned casually in a visit three years ago, two of which you've never told anyone, and one of which is in your chart, and one of which you mentioned casually to a specialist but who did not think it relevant enough to note down... And then they would need to do a differential against hundreds of megabytes of medical research. In five minutes allocated to your visit.

Doctors are trained with a certain degree of professional image to maintain, a sort of 'Wizard' status that must be kept to a tone of mysterious respect. Nobody wants uncertainty from a doctor, despite the fact that all of statistical reasoning and diagnostics is uncertainty, quantified. If they lose this image, it is felt, people start injecting bleach or suing them for malpractice or killing themselves over an innocuous granuloma that their doctor assures them is nothing. That is not a healthy environment to drill-down low evidence of probability outcomes.

Particularly if every test and treatment impoverishes you, and the impact of that poverty on your stress level and lifespan is dramatic.

While tripling the number of doctors would certainly help, AI and a great deal more population-scale diagnostics is just better suited to some of these limitations.

Is that what it will be used for? No. Initially, at least, it will actually be used to make everything worse, to automatically deny treatments, to argue with a doctor with the persistence of a chatbot.

And that's just for the stuff that's been medically recognized. Medical science has put comparatively little effort into researching ailments that cause chronic, non-contagious, non-fatal problems in your life, and less into resolving them. There is no agreement on how dandruff works, lower back pain was dismissed as psychogenic for decades, most headaches are undiagnosable, skincare is witchcraft.

A good doctor who sees you for a brief period every year is staring at your chart and furiously googling some of the things listed there to re-familiarize themselves for five or ten minutes before the visit, just to maintain an image of professional competency by not forgetting the words. Actually applying recent research... how?

No. You have to ask yourself why it hasn’t been used in this capacity more, and why so many billions are spent on pursuing crushing the arts and crafts into oblivion.

Given the published and (and currently expressing) philosophies of the primary investors and shareholders of those companies, it is no longer any mystery why!

My journey was done in two very different countries: US and Brazil. The exact same treatment approach and behavior from doctors.

FQ toxicity is likey caused by SNP in a specific gene related to pharmaceutical metabolism (one of the CYP450s). I believe this was published in the literature.

Another possibility is that FQ toxicity is caused by certain genes relating to detoxifying (GSH, COMT, etc) - where the body incorrectly metabolises it, leading to toxicity against cells.

I believe that you're a doctor because your response is exactly typical for a doctor. Have you considered for a second that all these people are right and that you might be wrong? I am similarly self diagnosed. 30 years of not being able to get a diagnosis despite having hypermobility so severe I can subluxate either shoulder on demand, I also had all of those other issues you mention - it's a cluster for a reason.

Hear me out, what if hEDS was 1/50 and not 1/50K or 1/15K or 1/5K or 1/500 or whatever the current literature has it at - which as a data science person is some rather large order of magnitude error bars for a figure. The 1/50 would include those diagnosed with generalized joint hypermobility, this would allow for the more common TNXB SNPs to be causal for hEDS.

And yeah, I've been told by many doctors that it's not worth even testing for because there is no treatment. Also consider the second order effects of not testing - how would you validate the original % numbers if people keep being talked out of getting tested, would subsequent surveys of population include those being talked out of the test? It's a good thing I don't rely on people who can't detect a condition to treat the condition. It is indeed very treatable - the dysautonomia aspect especially so.

The tool should probably suggest which clinical tests should be conducted next.

I think you might have hit the nail on the head there.

Exactly. It's fairly affordable. Although for me there were other co-factors for me to feel the effects in my brain (almost surely Coq10) so I felt better when I took this and ate food (which normally did also have some meat in it).

Just FYI this is not carnivore and I have mostly fixed this without eating pure meat. You can take methylated folate to fix this problem.

One of the subject genes is called MTHFR. It reduces the methylation of Folic acid by ~30-40%, depending on which paper you read. Tons of people have this. It was this AND a gluten sensitivity which resulted in me having actually low levels of usable folate.

To find out if you have this go to this link: https://you.23andme.com/tools/data/?query=MTHFR. You can enter various other SNPs there if you find any of interest.

You can download your DNA there and enter it in another site that can tell you the other genes that could affect this sort of thing.

There are other things that could affect other people in unique ways so of course this isn't the only one.

What I did is ask Claude "why would eating meat make me feel dramatically better" and it told me about these genes. And then I went to 23andme where you can see individual SNPs and then I searched for other related SNPs.

I also seem to have non-Celiac gluten sensitivity which affects my absorption of Folate (and other things if I have recently eaten gluten which was almost always until recently) which is why this was a problem for me. And zero doctors or companies have ever developed a test for this or even take it seriously, including allergists and immunologists that I saw.

Yeah, I'm always a bit suspicious of apparently effective dietary changes which result in a calorie reduction - often different people report completely different dietary changes helped them, but one thing they all have in common is being in calorie deficit.

There are plenty of studies showing that caloric restriction calms inflammatory responses which are responsible for the majority of common diseases. Without balancing the energy intake, I'm always slightly suspicious that any improvements with changing what I eat are actually caused by the change in how much I eat.

Could you elaborate a bit more about the diet and its effects?

Should be easy to troubleshoot on a forum or with a specialist. You probably were eating low fat. It happens often. Feel free to describe exactly what you ate and what problems you had.

Well yes, I am mostly supplementing with a large amount of methlyated B vitamins and yes it has helped dramatically. Took me years to figure out.

For me I had this and I believe a gluten sensitivity which impacted absorption of various vitamins. So when I cut out gluten and supplement I feel better, but kit if I continue eating gluten.