I might actually try this! I have a disabling genetic disorder (hypermobile Ehlers-Danlos syndrome) for which the genes responsible haven't yet been identified, but there are a few dozen genes of interest. Since the diagnosis is clinical, my geneticist didn't order testing for me, so I've stayed curious.
I'd probably approach it by ordering primers for my regions of interest, doing PCR to amplify them, then running it through the flongle in a single shot.
Of course anything this DIY would be useless for diagnosis or research - you want Sanger sequencing for accurate transcription of each gene, and whole-genome sequencing for identifying candidate mutations - but it's enough motivation to try such a fun little project. Also I can potentially play along at home with the results of the HEDGE study, which is trying to find the cause of hEDS.
As a middle ground between DIY and leaving it unknown you could also hire a contract lab to do this with you. As an experiment in this, I found a contract lab, ordered PCR primers, and sent in McDonalds burgers and McFish samples to do species identification. (Result: $300 all in, nothing too exciting, Bovine and iirc Alaskan Cod).
From [1], it seems like cooking doesn't completely destroy DNA, but does make it so you get smaller segments post-PCR. Maybe species identification is okay with small segments?
Have you looked into Nebula Genomics? They will do 30X coverage WGS for $299, and will give you the underlying data so you can analyze it on your own (in addition to their analyses).
I have this as well - I only found out a month ago after decades of searching and dozens of doctors, hundreds of tests, across 4 countries, all telling me there is nothing wrong. It should have been super obvious in retrospect. The vast majority of people who have hEDS will never know it. I highly recommend everyone check themselves for it. It could easily be 1% of the population. I only found out when my sister recently came down with CFS/ME in much the same way I did so I searched for genetic causes of CFS/ME. It can affect your whole life in a way you don’t even know isn’t normal, because everyone around you is telling you it is normal.
A lot of people seem to do well until their 20s and then come abruptly crashing down. That was the case for me. As a kid I had pain and could do all the crazy party tricks, but was more or less abled. Now at 30 I've fully dislocated my shoulder taking my jacket off, and need a walker.
I think transitioning hormonally accelerated it.. estrogen and progesterone loosen ligaments, and I lost my muscle mass from T.
NGS (Illumina style) is high enough quality to identify mutations. You can get a whole human genome for as little as 150 Euros (Dante labs has an offer at this price in 2020). Much cheaper per genome than suggested in the post, and you just send in the sample.
To get a comparable genome using the method suggested in the blog post will be much much expensive, in part because you have to buy all the equipment. But also because it’s Nanopore sequencing which has a much higher baseline error rate.
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.
Not OP; but have hEDS. CFS with brain fog is the most disabling part. Chronic back pain is the second. Post exertion malease means if I accidentally overexert myself I can be stuck in bed for days recovering. Bad posture due to loose ligaments.
There is also an increased anxiety with high functioning autistic behavior. It causes insomnia and noise intolerance. It seems to reduce the sex hormones. There also seems to be a link to higher IQ.
I have a distant West German background on the affected side.
Yup! The chronic fatigue and brain fog are definitely the worst for me. My mobility is pretty limited now, and I'm getting much worse at being able to type, but brain fog could end my career.
I do also have high IQ, ASD, horrid anxiety and insomnia, and I wonder if the sex hormone thing is what made me trans.
I'd probably approach it by ordering primers for my regions of interest, doing PCR to amplify them, then running it through the flongle in a single shot.
Of course anything this DIY would be useless for diagnosis or research - you want Sanger sequencing for accurate transcription of each gene, and whole-genome sequencing for identifying candidate mutations - but it's enough motivation to try such a fun little project. Also I can potentially play along at home with the results of the HEDGE study, which is trying to find the cause of hEDS.