4 ms·
Eh. Doing it yourself is a huge pain even when you get useful signal. I wish I could pay someone a few k$ to check results against literature and a list of thin
by jauer 4y ago
Eh. Doing it yourself is a huge pain even when you get useful signal. I wish I could pay someone a few k$ to check results against literature and a list of things I think are weird with my body.
ex. I have family history and symptoms of hypothyroidism. I've had 3 doctors test T4&TSH, then shrug and say everything is fine. My dad had a similar experience before landing on a doc who shrugged and said "let's just try the meds anyway and see what happens."
I got WGS out of curiosity, annotated the VCF with REVL scores, and sorted by score. The first entry was a low-frequency (121 hits in TopMed) NR1D1 missense variant. I couldn't find any literature on that variant, so I looked at the downstream THRA impact and found papers that talked about disruption to thyroid signaling, and said that T4 & TSH would look normal, so you need to check T3/rT3.
I bounce this off my endo and ask if she'll order a T3 & rT3 test. She won't because endo society guidelines says that rT3 tests aren't clinically useful.
I order my own tests from a labcorp reseller.
My T3 & rT3 results reflect what the papers saw, so I get grey market thyroxine. Screw up the dosing and get a day of racing heart. Fix dosing and hypothyroid symptoms went away.
After this I find out that there's a whole community of people with normal T4 & TSH results, hypothyroid symptoms, and wonky T3/rT3. Also that there's some kind of culture clash between normal docs and functional medicine docs about this.</shrug>
I shouldn't have to resort to days of messing with bioinformatics tooling, a week of reading papers, and questionable sourcing of meds to test something that any doc should have been able to deduce if they bothered to have some curiosity about how I could have those symptoms if their normal test came back normal :(
- phnofive 4y agoGreat job sticking with it - it's not easy and it is lonely, but you did it.
- buildbot 4y agoBTW there is a tool for this, though you seem like you did well on your own - promethease https://www.promethease.com/ https://www.promethease.com/
- hallway_monitor 4y agoMaybe a better doctor could get you the medicine you need. The ideal solution is to make many prescription meds available over the counter since doctors are often useless or actively harmful though their ignorance and hubris.
- tcj_phx 4y agoBack in the day, doctors diagnosed hypothyroidism via temperature and ... co2 (I think). The prescription to treat hypothyroidism was grains of Armour Thyroid (Dessicated Thyroid). https://en.wikipedia.org/wiki/Desiccated_thyroid_extract https://en.wikipedia.org/wiki/Desiccated_thyroid_extract https://en.wikipedia.org/wiki/Armour_and_Company https://en.wikipedia.org/wiki/Armour_and_Company Broda Barnes' book, Hypothyroidism: The Unsuspected Illness, tells of the experience of these old-school doctors. https://www.google.com/books/edition/Hypothyroidism/TJXf2ZqoxUIC https://www.google.com/books/edition/Hypothyroidism/TJXf2Zqo... Every batch of Armour Thyroid was tested and standardized. Then the synthetic Synthroid came out, and the sales reps said "this is way better than animal thyroid", never mind that the batches of the synthetic bio-identical T4 were not consistent. Eventually the Armour Thyroid brand was sold a couple times. The new owners reformulated it, and didn't care so much about potency. Armour thyroid is still sold, but it's not like it was when Dr. Barnes was using it. A mix of synthetic T3/T4 is sorta-similar to the old Armour thyroid, and better than the Synthroid. There's nothing worse than having to deal with people who think they know what they're doing.
- snerbles 4y agoMy endocrinologist tested for thyroid antibodies - there mere presence of those alone was enough for a diagnosis of Hashimoto's disease. My actual T4/TSH levels were on the low side of normal - so a typical GP would likely have ignored this. But given the antibody test and the symptoms my endo focused on those first. Fortunately he's been pretty emphatic about not just chasing numbers on a chart.
- ajmurmann 4y agoThis might come off as too techno-optimistic, but I really think there is huge potential value here for AI participation in medicine. An AI trained on all the latest research could probably help either digest additional avenues to doctors and patience. I'd also like to see AI do a parallel diagnosis and if doctor and AI disagree, a third opinion is pulled in. Unfortunately, I expect our medical system in the US to be reluctant to use AI in addition, rather than as a cheaper replacement since everything is driven by profits for insurance companies.
- jimmywetnips 4y agowhoah what the hell, I've found myself in the same exact situation so many times before, but I just don't have any background in genetics / science to know what the steps invovled are and how to interpret both the posted genetic abnormalities and comapre them with my own data. What's so frustrating, which you've experienced very acutely here, is that nobody cares about your health as much as you do, and for any reasonably sharp people, you have more time to research and think through your particular issues than a specialist with hundreds of patients. I've been thinking that there needs to be a forum or subreddit or something to gather all these "Direct medicine" tips. Do you have any other things you've done? I've personally gone the route of ordering the thyroid test. For something so rediculously cheap as $8 to run them at a quest diagonstics center to get answers in 12hours vs the usual rigamarole is a no brainer. Another one I've done when I needed to see a specialist asap and couldn't wait the 6 months in the US was to use this app called doctoralia and schedule an appointment with a mexican doctor. $75, got an appointment in 2 days, they seemed very knowledgeable and was involved with the Mayo clinic. Again, no brainer.