EDS in Revolution, 2017

The last year has transformed our understanding of Ehlers-Danlos Syndrome, and adjusted our understanding of MCAS, too. A whole different picture emerges.

To the point where it may be time for patients to act, and to experiment with their health; since the next large advance may depend more on patients than doctors (more about that thought in a bit.)

A preliminary study by Anne Maitland tested ten EDS patients and found that all ten had Mast Cell Activation Syndrome (MCAS.) That saves time chasing a diagnosis, perhaps, if you already have a diagnosis of EDS; as most of the effective palliatives for it are over-the-counter drugs, or common prescriptions, or living a careful lifestyle, low histamine foods, etc. Given the sheer amount of suffering — it’s been like having the flu for fifty years running for me — we wish there were much more effective treatments (or even actual treatments) for MCAS but so far, there aren’t.

As for EDS, a breakthrough genetic study found a genetic trait, plural-alpha-tryptase, that underlies hEDS (hypermobile EDS, the preponderance of cases.) BUT it’s only a necessary condition for the illness of EDS; most people with that trait DO NOT have EDS or MCAS. (Perhaps 6% of the population has the trait, but only 1 to 2 % of the general population has the disease.)

That study left us with the question, amongst those with the plural-alpha-tryptase what determines who gets hEDS, then? Is that determined by other, as yet undiscovered genes, or by one’s environment? (Or one’s ancestor’s environment if the effect is epigenetic.)

Twin studies have given us the answer — you can have an identical twin with hEDS, and not have hEDS yourself; in fact it’s not at all uncommon. Therefore, there is a strong environmental factor determining who gets hEDS and who doesn’t (extra genes might be involved, but they can’t be most of the story.) Believe it or don’t, unless there’s been a massive error in the twin studies, there’s just no way ‘round this. Fact.

That’s a revolution in our knowledge of hEDS, most of the information popping up just this last year. (Finally, a trickle of funding is coming our way, and we have some results!) Among other ideas, the old Shibboleth — held almost with violence by some very vocal people with EDS — that hEDS (most EDS cases) show autosomal dominant inheritance, and must be a genetic illness, period end of sentence, is dead as a doornail. This year I’ve fought in the forums to try to be sure that this and a few other very firmly held misconceptions aren’t spread any further, precisely because we really do know better now. I hope in a year or two that EDS societies and some doctors, too, will catch up with the research and stop spreading these falsehoods with such calm certainty — because the truth is, these claims never had more than a shred of empirical justification in their favor, yet they stuck with us like cement for a very long time.

If it seems difficult to wrap one’s head around the idea of an illness that both is and is not genetic, then let me cite an example. An illness that shows a genetic trait but not a purely genetic cause: sickle cell trait. If you have this trait, it can kill you, but only if you find yourself well above sea level. The environmental factor is air pressure! A single copy of the gene doesn’t give you the illness but does protect you from malaria; so this isn’t a genetic error, really. The sickle cell genetic trait is having two copies; and even then, it is very unlikely to harm you at sea level.

But what is the environmental cause or perhaps I should say, trigger, for hEDS, then? It may be one factor, or a few. Nobody knows, and it might not be wise to wait for medical research to provide the answers: because the long track of medical history suggests that’s not the sort of thing people in white coats do very well. It’s not the sort of work you can usually do in a lab; and isolating and testing all the possible variables would be incredibly expensive, if it were possible at all. So much of our modern world is so different from the world we evolved in, there’s certainly no shortage of possibilities. This is a battle that a few tens of thousand observers might solve well before experimental medicine or paper-and-pencil surveys succeed. Especially if there’s anybody out there who’s experienced a remission, for however long, and might be able to discern why. With EDS research funding being very slight, indeed, I think we patients should try to pinpoint environmental causes if we possibly can. Yes, it’s a tall order, but that (perhaps final) task in the story of EDS may not get done anytime soon, otherwise.

But does anyone ever experience genuine remissions from EDS and MCAS symptoms? I’m not talking about a cure, since it would take forever to replace all the defective collagen we have, but markedly better health with no further progression of symptoms; and the near-absence of all that crazy MCAS allergy-like influenza-like nastiness?

I think I probably have. Just twice, for not more than a couple years or so, I believe I have. As for why… well that’s been something of a life-long mystery to me. When I discovered how thoroughly sun exposure was exacerbating my symptoms (of both EDS and MCAS) last year, I began to think much more seriously about the role of the sun in EDS. Paradoxically, during the time preceeding what I’m going to call my two short periods of remission, I had (quite unusually) been out in the sun a great deal (the first time, because I was homeless, due to undiagnosed EDS.) So for the last several months I’ve been ramping up my sun (UV) exposure. Winter wasn’t too hard to take, that way, although not easy — UVA in winter sunlight is may not give you a sunburn or vitamin D, but it’s still potent. Now that the sun has reached a rather high angle, I’m in misery — up and out to the Doctor one day, then pretty much flat for a week. Despite the misery, I’m sticking to my experiment. I hope others with EDS will be experimenting as well; especially if your sypmtoms haven’t always been constant. Think about what your circumstances were like, and see if you can’t pin down an environmental factor that was present then, or wasn’t present then.

The plural-alpha-tryptase study (summary by author):
https://www.niaid.nih.gov/research/hereditary-alpha-tryptasemia-faq

The original study, other links to press releases and PMID on other machine:
http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.3696.html

Abstract:
https://www.ncbi.nlm.nih.gov/pubmed/27749843

The twin study was mentioned in a paper that was part of the recent journal issue full of EDS articles that came out simultaneously with the new EDS nosology (categorization) this year. I don’t have that ready-to-hand.

I’m flat-out tired these days despite a lot of bed rest, so I haven’t done as much background research as I might otherwise for one of these articles. If I’ve put a foot wrong, that’s why. I’ve been meaning to write this up for some while but just lacked the energy, so I thought I’d best get the job done while I could.