Hey everyone,
Today I wanted to share a fascinating piece of research I just read about. It comes from researchers at the Hypermobility and EDS Clinic at Tulane University, who are working to discover the underlying causes of hypermobile Ehlers-Danlos Syndrome.
As you may know, based on my experience — both personal and coaching my clients– I believe that genetic hypermobility conditions are a predisposing factor to why many people develop SI joint dysfunction.
Hypermobility conditions run on a spectrum. Hypermobile Ehlers-Danlos Syndrome is *one* form of genetic hypermobilty condition, but not the only one. Personally, I have been diagnosed as genetically hypermobile by two geneticists, yet told I don’t fit the criteria for Ehlers-Danlos.
However, if we can figure out what causes one form of hypermobility, the answer will hold clues as to what causes the others as well. So I’m really excited to share this research with all of you today!
I found out about this breakthrough thanks to this group at EDS Awareness, who have interviewed the researchers at Tulane University.
These researchers found that in at least a subset of patients with hEDS, a genetic variation in the methylenetetrahydrofolate reductase gene (or MTHFR for short) is present. Essentially, this genetic variation was found to affect the patients’ ability to metabolize folate, aka vitamin B9.
The researchers conducted an experiment where they gave their EDS patients a food supplement to replace some of the enzymes their faulty MTHFR genes were not making. This supplement would then give them the ability to properly metabolize the folate in their diets.
And lo and behold, this supplement ended up improving the pain and other symptoms in a full 50% of the patients who tried it!!!
So, while this mechanism may not explain all of the symptoms people experience in hypermobile EDS, it does appear to play a role in a significant percentage!
I am so excited to see this research. Because, as much as I’ve been able to overcome many boundaries in navigating the world as a hypermobile person, it would be amazing to be able to intervene in a biochemical level, to repair the processes that may be dysfunctional in how we create connective tissue.
This research may be just one step at the beginning of a long road, however it is incredibly significant for proving that hypermobility disorders are in fact real conditions with a biochemical basis. This opens up the door for further research to shed light on these “invisible” disorders, bringing us forward into a world where conditions like hypermobility and EDS are taken much more seriously.
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For more on how I navigated hypermobility in my own journey, check out my Hypermobility section!
Stay tuned for more!
My Sacroiliac Joint Saga 
I am just getting around to reading about the Tulane research, and it is BLOWING MY MIND. Never an official EDS diagnosis because when I cannot bend my thumb to touch my arm (classic hypermobility “tell”, I suppose?) in an exam where I am voicing concern about hypermobile joints, the conversation is shut down by any practitioner. But I follow you over the years because I have had horrific, inexplicable S.I. joint dysfunction in the past, lots if pelvic instability, have been told I am too flexible by practitioners, etc. This Summer I was diagnosed with a near complete meniscus root tear – is that connective tissue? I am “coming back” from a hideous root repair surgery over the Summer, it is a long recovery. Of course I am terrified this will happen to me again. So, this gene research…Wow, it’s hitting home. I started seeing an N.P. for help with subclinical hypothyroidism and hormone levels in 2020 just as we were coming out of lockdown in Florida. She had me do 23andMe, and also had me upload it to the Nutrahacker site. As a result of the Nutrahacker report, she sent me off with a different multivitamin for people like me who cannot utilize normal folate. Reading the Tulane interview, that’s me. The MTHFR and B-12 abnormalities are on my Nutrahacker report, the heavy menstrual cycles my whole life, stupid allergies. Whaaaa’??? I will continue to chase this down! Thank you so much for sharing this interview!
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Hi Amy, so glad the post was helpful! How incredibly frustrating that you were shut down based on that one aspect of the test. I actually can’t bend my thumb that far, either.
There seems to be a growing acknowledgement among practitioners that the Brighton/Beighton test is incomplete, and that it really should be one component of an exam, along with personal and family history. People may be hypermobile in other joints than the ones they test, and additionally, joint range of motion can become reduced as we age- even in those of us with hypermobility.
I agree, it sounds as though you have a lot of the hallmarks of hypermobility/EDS… keep us posted as you figure more out!
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Thank you for your site! I have autoimmune conditions and am hyper mobile. Not in my fingers or elbows, but shoulders, spine, hips, and knees. I’ve never had the test but I have looked at the requirements for it and wondered why no other joints are considered. My SI joint got out of whack years ago and I went to PT. Last night at church, after service one of my friends who is a PT helped me get my SI joint back in place. My hips have been hurting for a long time and I didn’t realize my hip was rotated again. I have rubber bands and am going to do my exercises again. I looked into SI joint online and found your site.
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