Slow your roll with me

Slow your roll! viaWhat do you mean by that, Jan? Well… I’ll tell you. As my long time followers know, I slowly uncovered and recognized and diagnosed both my autism, and more a propos to this post: my ADHD recently in the summer of 2021 at 54. Finally, I had some additional answers for my mental and emotional and physical health, in addition to the obvious physical issues contributed by hEDS and MCAS et al.

And I found both myself and my cohort often leaping to erroneous and often premature conclusions as we all shared various links and news stories with each other on social media. And which I’ve come to recognize as a very ADHD trait after all this time. (Interrupting others, speaking over or for them, finishing their sentences is also another. Which also needs checking.)

Are you an eager beaver too?

For my own part, I got overly excited about a recent paper put out in January 2023 that turned out to just be sharing a hypothesis about EDSers probably being more prone to catching COVID, having worse cases, and ending up with Long COVID more than most. I had been strongly suspecting just this very thing based on my unscientific observation of my Twitter stream anecdotes about same.

I say “just” a hypothesis, as I made the common rookie mistake of assuming it was a study, much less a good one. When in point of fact it was and is not – at all. It is merely a paper sharing a clinical observation or “hypothesis“, which is begging to be studied. And which fed my confirmation bias as I wrote about here.

I had gotten all excited and started tweeting it as though it were fact, before Dr. Gensemer slowed my roll and sobered me up over on Insta. She pointed out that not only did it not provide any original data (or even unoriginal data), but it went on to overstep a bit and caution against taking COVID vaccinations, when again, there have been no studies proving they cause any harm in the EDS population especially.

Now, I don’t disbelieve my friends who have told me they have had averse COVID vaccine reactions, no. And I mean above and beyond the usual MCAS driven reaction. I’m talking true adverse events that needed reporting. And there may be something to this. I just think we shouldn’t put out broad-sweeping clinical advice about them without proper data to back it which this paper lacked.

Regardless, please talk to your individual doctors and care providers about your individual case, always. And “do you” as they say. No judgment here!

Not so fast, Private

But I’ve had this tendency to leap quickly to often premature and erroneous conclusions – and then also stick to them – for years. And I now realize my ADHD and autism lend to this combo. (The ADHD leaps, and the autism sticks – like velcro!) And so it’s no surprise many of my ADHD cohort do too.

A recent case in point involves a paper put out by some doctors from the Tulane EDS clinic in April 2023 suggesting that a common inborn (genetic) folate deficiency caused by mutations in the MTHFR gene may cause hypermobility and other issues. The doctors did not outright say it “caused hEDS”, but just that it could well contribute, which is a welcome bit of news for the hEDS community. And further, that there was an “innocuous treatment” in the form of a supplement. (Hold that thought too.)

(hEDS is the only type of EDS without a single known genetic marker, so remains a challenging clinic diagnosis yet, despite being the most common form by far. So the community has been super hungry for “one gene to find them all and in the darkness bind them” to mangle some LOTR.)

But, Tulane’s PR mischaracterized this in their initial news announcement as “causing hEDS”, and Pain News Network picked up on that and ran with it without doing any fact checking or employing healthy skepticism.

Seen before

And I’d been around this block before. Way back in 2012 when I was newly diagnosed with hypermobile type EDS, aka “hEDS”, the most common type with no genetic marker yet, I learned about this potential cause or contributing factor via Debby McQueen’s website positing same. Who may have gotten it from Dr. Jaime Bravo from Chile, years before.

And I admit, I got all excited about this and shared it with my genetic counselor and doctor then. Who wisely slowed my roll back then and helped me see that these things were probably both “true, and true, but unrelated” in genetic speak. That is, just a nice coincidence. How so?

Firstly, as these defects occur in upwards of 20% to “as high as 40%“* of the general population, this implies that many people would have hEDS if it “caused” hEDS. And even I – the Queen of “Not rare!” – who am constantly suggesting hEDS is much less rare than doctors think — don’t think hEDS is that common, even.

I’ll go as high as 5-10%, but not over 20%! Even if we added in the newly defined Hypermobility Spectrum Disorders since 2017, when they were first described as the new diagnosis of exclusion to hEDS. (Essentially it’s the new catch-all bin for those who are symptomatic and bendy, but not in enough of the right ways, and with no clear signs of any of the more rare types of EDS or related conditions.)

Could this explain a subset of folks with an HSD or hEDS? (Formerly HMS, BJHS and JHS too.) Sure. Could it explain a subset of issues and symptoms in some of us with hEDS or HSD? Sure.

But does it explain us all? No. But it may lead to a newly defined diagnosis Tulane called “Folate Deficient Hypermobility Syndrome”, much like how HaTS arose in 2016 in the hypermobile MCAD community.

In other words, yes, it explains a subset, but not all of us. And or just a subset of symptoms in some. Which is not trivial, no, but cannot be said to “cause hEDS” as PNN initially tweeted and said.

Screen cap of an original tweet by Pain News Network April 12, 2023 @PainNewsNetwork reading:

Researchers at @Tulane University have found a genetic variant that causes hypermobile Ehlers-Danlos syndrome (#EDS). The discovery points to a possible treatment that's already available. #cpp #Chronicpain @EDSAwareness1 @TheEDSociety (sic).
Screen cap of original tweet by Pain News Network April 12, 2023

Secondly, not all who have hypermobile EDS (hEDS) and or an HSD have an MTHFR defect. For real. So… if this was “the” cause, that would be true. And it’s just not. Some patients have told me so. This is begging to be studied. But, even Dr. Jaime Bravo got this wrong 17 years ago, even if he technically scooped this “story” long before Debby McQueen and Tulane. And no full studies have been published – yet. (Stay tuned, I hear rumor Tulane may be coughing up some data soon.)

Could it really be that simple?

Further, the PNN and Tulane articles implied that there was an easy, safe fix: just supplement with some 5-methylfolate and you’re gold. It’s safe. No problems. (They called it “innocuous”.)

Uhm, hold up a second! First off, no supplement is 100% benign or safe for everyone. The devil is always, always in the details (which ADHD brains hate), sorry. And, there are a lot of snake -oil salesmen profiting off this fear and misunderstanding.

I’m not saying supplementing cannot and does not help some who actually have this issue as the Tulane group and others have described, but… it’s not equally benign and safe for everyone. Other downstream methylation cycle SNPS (single point mutations/genetic defects) may also cause some problems once you successfully fire up the rest of the cycle this way.

E.g. if you have some COMT or CBS or other mutations, you may want to slow your roll. Or treat those first. Some folks have made a living off of telling you which ones even.

Secondly, even well known folate pusher Dr. Ben Lynch of “Dirty Genes” fame doesn’t methylate (supplement) daily, and makes it clear to “treat the patient, not the SNP” if you do. He admits that not only can you over-methylate, lending to some behavioral issues (rages) in some (some advise keeping niacin handy for this, while others disagree) but even he doesn’t take his own supplement daily – just when he’s feeling particularly stressed. So uhm, hello! Not a panacea, sorry.

And others will get no benefit at all – even if they have these mutations!

So, it’s just not that simple, sorry. Nothing ever is. And the devil is really in the details. But, I do think this is an exciting development that seems to be finally hitting the mainstream thanks to social media seventeen years after Dr. Bravo first observed it. But even he, (Dr. Bravo) missed the above. Doctors are people too, complete with biases and ADHD in some cases too.

Slow your roll!

So take everything you hear or read with a grain (or 100) of salt, and slow your roll with me. Get cautiously excited, but keep things in a liminal space (grey area) of “ooh, sounds good, but let’s wait to see if this is as big as it sounds”, and then either do some research of your own, or wait for some to come out via trusted sources. This is the nature of scientific development: messy, and not always unified. Which is good!

Like, thank God someone decided to stop bleeding patients with leeches back in the day. Or we’d all still be anemic and trying to figure out why! It can take a minute for science to catch up, but it eventually does. (Eventually!) To your health.

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