For markers, I don't recall off the top of my head, but I'd go with one of the connective tissue disorder gene baskets, and add other genes that are metabolically connected to those. The collagen genes COL3A1, etc. and TNXB definitely. 23andme is not likely to tell you much since it's just the 50k "greatest hits" of the human genome.
As for how I'm disabled: I have to use a rollator full-time now, and I've just been prescribed a neck brace, despite doing PT religiously for most of a year. I'm just too loose.. my knees give out, I sprain ankles all the time, my neck is too wobbly to hold my head up etc. I also have neurological issues that make me really clumsy, and dysautonomia that leaves me fatigued and woozy. Brain fog is the worst of it, since my mind is my livelihood.
No French background, Scots-Irish. Weirdly I don't know anyone else in the family with it, but I'm extremely hypermobile so it may have been a new mutation.
That's rough. Women have a much harder time with hEDS. I use Low Dose Naltrexone for the brain fog. It is not without its side effects but it works for me. I've been on it for 5 years for CFS before I knew it was for hEDS and would have considered myself normal if I wasn't getting injured all the time.
My theory, and this isn't standard, is that for hEDS the hormones drive the collagen deposition. Other EDS have a more direct link for mutation in collagen. I subscribe to the metabolic trap theory of CFS (see Dr Ron Davis) work, in my view this trap could upset the hormones which affects collagen.
In the past month I've been taking collagen peptides and other joint supplements and have noticed my fingernails have become substantially harder. I think the common refrain in the hEDS community that those don't help is wrong.
Trans men report a substantial improvement with TRT. There is an actual trial going on now treating women with testosterone.
There is anecdotal evidence that healing peptides and hGH is very effective. Especially for neck instability, or in my case degenerative disk disease. My gray market supply should arrive in a few days. I didn't want to wait for modern medicine to catch up. The pipeline for hEDS treatments is pretty sparse.
Long Covid seems to have a ton of similarities to heads so hopefully treatments will cross over.
thanks for the tips! I think long covid has more similarities to POTS than to hEDS, but most of us have POTS or OI too, so I agree it will help.
on the subject of sketchy gray-market meds, have you heard of BPC-157? I know an hEDSer who seemed to really bounce back after using it, but I can't quite work up the nerve to inject myself with internet peptides.
What do you read to stay informed about this stuff?
Yup; I’m starting out with BPC-157 and TB-4 in an oral form, before adding hGH injections later so I can tell which does what. Maybe a supplemental amount of testosterone after that. The hGH will help tethered cord syndrome which I don’t have but you might. It is a potential very painful temporary complication you might want to be mindful of. Anecdotally it is a better fix for that than surgery which hEDS people have a hard time healing from.
Even if someone seeks a hEDS diagnosis they are given a false negative 85% of the time. The vast majority don’t know to even seek it. It’s surprisingly prevalent, but also a spectrum. Many will present as just anxiety and burnout.
I read preprint research on ResearchGate and the NIH website - including mouse studies, as well as research done in Eastern Europe. I chat to friends who work in computational biology and longevity. I read a ton of comments across Facebook, Reddit, YouTube, and Twitter looking for anecdotal data. Bodybuilders and athletes are another good source of anecdotal information.
I used to be an applied researcher in machine learning; so I’m used to finding mistakes in others work. There is a lot of false confidence in medicine due to p-hacking and selection biases. I worked with behavioral data so I’m also used to cleaning anecdotal data and making it useful.
I got lucky; I was told young that weightlifting will help straighten my back and keep my shoulders from subluxating so I’ve worked out most of my life. Also why I knew more PT wasn’t going to help. At my high school gifted program I was warned that people at my level pretty much always burn out young; so I’ve always kept that in mind and readily slow
down when burning out. It has been hell but it could easily have been worse.
I think the weightlifting helps a ton with the testosterone and hGH and maybe other hormones. So does sunlight, it’s more than just vitamin D. But I can’t maintain the intensity and invariably get injured and relapse. This has been a cycle for me for many years.
There is also the mitochondrial repair approaches which I’ve yet to experiment with.
I think it could easily be 5-10-15 years for a proper cure. It’s a very neglected field.
As for how I'm disabled: I have to use a rollator full-time now, and I've just been prescribed a neck brace, despite doing PT religiously for most of a year. I'm just too loose.. my knees give out, I sprain ankles all the time, my neck is too wobbly to hold my head up etc. I also have neurological issues that make me really clumsy, and dysautonomia that leaves me fatigued and woozy. Brain fog is the worst of it, since my mind is my livelihood.
No French background, Scots-Irish. Weirdly I don't know anyone else in the family with it, but I'm extremely hypermobile so it may have been a new mutation.