What happens when diagnostic criteria aren't fit for purpose?
"I don’t think EDS is going to be a mystery condition for very much longer."
What is the purpose of a diagnosis in a medical setting?
According to the Merriam Webster Dictionary (and apologies for the high school essay vibes) a diagnosis is “the art or act of identifying a disease from its signs and symptoms.”
Once received, a diagnosis can open up doors to understanding, recognition, and (most vitally) support. In theory, although we know that this isn’t the case for many, it should open up a path to treatment and care.
But what happens when the diagnostic criteria, the very thing that is supposed to help clinicians accurately determine whether or not you may have a certain condition, are not fit for purpose?
This is a question I’ve thought a lot about over the years, and something that we’re going to explore in today’s episode of The Rest Room with our guest, Sabeeha Malek.
Sabeeha is a PhD student doing biomedical research into EDS. She also lives with hEDS, which has motivated her line of research.
She first wrote a publication about the limitations of the Beighton Score in the diagnosis of EDS, and then went on to propose a new theory about the biological mechanisms underlying EDS. And as you’ll hear, she’s now researching her theory and believes that changes in cell mechanics could be driving the connective tissue issues in EDS.
In this episode we discuss:
The history of the Beighton Score - how did a tool used for epidemiological studies come to be used to test for EDS? And should it have been?
The limitations of the current EDS criteria (and what the hell happened with the HSD diagnosis)
The difficulties of creating a diagnostic criteria for hEDS
What’s the deal with “the gene”?
More about Sabeeha’s current work and the exciting future for EDS research…
….and much more!
It was truly fascinating to hear about some of the science that’s going on behind the scenes and I left our conversation feeling hopeful that some of the mysteries surrounding the Ehlers-Danlos Syndromes are one step closer to being solved.
To listen, you can just click play at the top of this email, or you can listen on Apple, Spotify, Amazon and Google. If you’d rather read the transcript of the episode, I’ve made that available on my blog.
Please note: if you receive this email within the first few hours of it being sent out, it might take a few hours for the podcast to filter through to some of the podcast platforms like Amazon or Spotify.
If you missed my last episode on making the most out of your medical appointments, you can check it out here.