Um, EDS is Common?
On November 4, 2019, Diagnosed prevalence of Ehlers-Danlos syndrome and hypermobility spectrum disorder in Wales, UK: a national electronic cohort study and case–control comparison was published by the British Medical Journal, an organization in desperate need of a decent logo.
The BMJ describes itself as:
“a global healthcare knowledge provider with a vision for a healthier world. We share knowledge and expertise to improve healthcare outcomes.”
Per their YouTube, seems like they think of themselves as watchdogs of the medical establishment.
Well, good for them.
This paper created quite a stir because it says that Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders are not rare, that they occur more like 1 in 500.
Wait, what?
The authors went through Welsh medical records to count how many patients had a diagnosis of EDS and the like.
Lots of EDS diagnoses in Wales!
Apparently, doctors in Wales have been handing out hypermobility diagnoses like candy on Halloween. Maybe that should have been the issue to scrutinize in this paper.
Thanks, BMJ for not pointing out that somehow in Wales, EDS became trendy but not valid. It is fun to try to make the Ehlers-Danlos Society look stupid. Your work is productive and much appreciated. 🙄
The Ehlers-Danlos Society was not amused.
Dr. Alan Hakim and Dr. Fransiska Malfait published a response on November 5, 2019 The Ehlers-Danlos Society responds to the recent paper on the prevalence of EDS and HSD.
I am very amused.
You should see the desperation, complaining and begging for help that goes on in my local Facebook EDS support groups about how hard it is to get an EDS diagnosis in the great city of Los Angeles.
Doctors in general, it seems, are not properly educated on genetic disorders and don’t know where to begin. I’ve heard the uninformed say incorrect things like you can have different types of EDS in one family.
A good place to start is the Ehlers-Danlos Society’s page WHAT ARE THE EHLERS-DANLOS SYNDROMES.
In any event, dear SoCal friends and suffering patients everywhere who cannot get a genetics evaluation, your problems have been solved. Get an EDS diagnosis in Wales without trying.
Diagnosing Ehlers-Danlos
Diagnosing EDS or Hypermobiility Spectrum Disorder is complicated, and world experts have worked hard to address this.
This informative interview on the Hypermobility Happy Hour with our hero Dr. Clair Francomano will enlighten.
Part of the challenge of any rare disease is coming up with diagnostic criteria that is objective and productive. Guess the BMJ is blissfully unaware of that problem. Must be nice to live in such a simple world.
Diagnosing Me
I was officially diagnosed by geneticist Dr. Ora Gordon at Cedars-Sinai Molecular Medicine in September of 2012, per the old criteria. It was the longest medical appointment of my life.
I waited many months just to get the appointment. In the meantime, I rounded up medical records from everywhere and gave them to Mr. Pennington to drop off at Cedars on his way to work.
When the glorious day arrived, I was there, being seen in clinic for over two hours. It was exhausting, as this was before I was injecting Ascor daily, so I had profound fatigue back then. I remember taking a Vicodin after I left because I hurt so much. Ah, my old life. I do not remember it fondly.
The doctor and the genetic counselor went through my medical history in-depth. They reviewed my records. They wanted to know everything I could report about my family, too. They throughly inspected my skin and my scars. Dr. Gordon handled most of my joints. I am hypermobile everywhere with a perfect Beighton 9/9. My small joints are especially loose. And only after that was I diagnosed:
You have Hypermobility Ehlers-Danlos Syndrome.
Everything wrong with you has been a practical joke from EDS.
So that’s the time and knowledge it took for Cedars-Sinai to affirm my diagnosis.
WTF were those doctors in Wales doing?
2017 hEDS Criteria
I suppose hEDS would be simpler to diagnose now, with the 2017 criteria. I have been re-evaluated under it by Dr. Christina Laukaitis, and I do fit. We blew through that checklist fast as I have very complete medical records, only because I have been out there getting relevant scans and tests done for over a decade. Touch the floor with flat hands and legs straight, bend a knee backwards, flash the EDS gang sign, show off my piezogenic papules and we were done.
The 2017 criteria has been greatly criticized for being too exclusionary, and perhaps it is. That was intentional, to focus molecular research, which means finding the deleterious mutations causing hEDS. It does not mean that anyone not meeting the criteria suffers any less.
There is much to learn about our complex and poorly understood disease. The Ehlers-Danlos Society is doing amazing work, and we are very lucky.
How Common is EDS?
Genetic disorders tend to produce consistent facial characteristics in those affected. If you go to EDS events, you will notice the similar face types. The look of EDS becomes obvious if you have been around enough of us.
I rarely see someone with an EDS face out in public, definitely not one in every 500 people. But I do see them. The person always has beautiful, glowing skin. I might catch a glimpse of unusual flexibility, a quick back twist or wrist bend that collagen-typicals simply are not capable of.
As someone who has a spent her entire life trying to get understanding from doctors, I can report that what I say to them, they are not often hearing.
Doctors are smart and observant. They would remember if lots of patients had the wacky problems that I do.
Common phrases medical professionals have said to me:
What happened to you?
(When looking at my teeth, legs, feet, blood, etc.)
No one is ever said that to me before.
(When I am telling them about my symptoms.)
No one has ever reacted that way before.
(From exercise, surgery, or medication.)
So I think I’m pretty rare. Not ultra rare, but not common, or doctors would not to be totally confused by me. So that settles it!
What the BMJ Got Right
Let’s give the BMJ some credit for including this useful paragraph about our problems… except they got it from proper research done by doctors familiar with Ehlers-Danlos. They did not do it themselves… so maybe let’s not give them credit.
Want to learn about EDS?
Doctors can sign up for Project ECHO and receive world class training on the Ehlers-Danlos Syndromes.
Want to help research?
Patients, please! please! please! sign up for the Global Registry so we can be studied.
If you qualify for the 2017 hEDS diagnosis, or think you may, please! please! please! enroll in the HEDGE Study to search for the genetic cause of hEDS.
As of this writing, there are 300 patients who have donated DNA the the HEDGE Study. I am one of them.
The Ehlers-Danlos Society needs 700 patients more to run a study that should pay off with causes of hEDS found.
When causes are found, we will have real clarity on what hEDS and HSD is.
