Trying to get a diagnosis re EDS (or not)

I’ve had a lifetime of chronic pain and fatigue. One of my doctors recommended testing through When I looked at the results, the test flagged two genes that point to EDS. I’m not savvy enough to know if that means I have EDS or not but will be following up with the doctor to learn more.

My constellation of symptoms seem to fit with a mild case of EDS. Fibromyalgia, fatigue, worsening back weakness/pain, skin on elbows and at hip pointers are very sensitive and sometimes very painful, sleep issues, etc.

I’m looking forward to learning more about EDS and getting to know those in the group.

Hey Flemingm,
Welcome to Ben’s Friends.
Interesting that a Dr would recommend a service like for medical testing. Part of the issue with self diagnosis is trying to identify the diagnosis via symptoms as many conditions can have some very similar symptoms. Often a diagnosis for a rare condition comes from a combination of medical specializations and reports. Although your genetic markers have identified genes involved in such conditions, how predominant are those markers? Some conditions may have 3-4 different markers but if one specific marker is missing (or less dominant) the rare condition may not present in the same manner.

Medical DNA testing can be an extremely accurate. But it should always be read in consultation with a medical Dr with a knowledge of reading DNA and not just analysed by lay people like you and I. Over the years I’ve been given many ‘possible’ or ‘maybe’ diagnosis, but it took the appropriate medical scans/tests, by the appropriate Dr’s to finally get a true diagnosis and even then my symptoms were minimised by the medicos ie ‘Ohh, it can’t be THAT bad…’

Follow up with your Dr. It will be interesting to hear their interpretations. Please let us know.

Merl from the Modsupport Team

There are 13 types of EDS, based on the current classification. 12 have the genes identified, and if all are negative and you have the Beighton Score that supports it, then you end up classified as Hypermobile EDS… they have not found the gene for that one yet.

I got tested for all because there are certain things that have to be considered with some types… like heart valve problems and aneurysms. I went to VMP in Georgia, and she specialized in connective tissue disorders… that is how I FINALLY got a diagosis at age 48 after lots of injuries and pain and no one understanding what was up. Her practice is called Virtual Medical Practice and she sees people by video all over the world. So wherever you are, that is an option for a real diagnosis. She can do the Beighton Scoring by video conference… I first saw her that way since there were no appointments because of COVID. Just a thought.

But she does remote second opinions if your diagnosis is still in question. Direct Patient Care :: VMP Genetics