Ehlers Danlos Syndrome: Can't get diagnosed

@dianeehlinger Welcome to Mayo Clinic Connect, a place to give and get support. It sounds like your illness is causing you a great deal of issues.

Members @lovemyfamily2003 @rois4richo @healthhopefreedom @dandl48 @needrelief @jthigpen @jthigpen have discussed this topic in the past and may be able to offer support and suggestions

May I ask what your doctors/providers suggest regarding a ehlers danlos syndrome diagnosis?

Sadly, so far none of my physicians have recommended further studies. I feel as though I am completely on my own. I do have an appointment with a different rheumatologist in mid June. Maybe she will be the one to finally really listen to me and to look at the whole picture. Modern highly specialized medicine has its drawbacks. Nobody puts all the pieces together.

Can I ask what area of the country you’re located in? Also are you having any vascular involvement i.e. have you had like meet your vessels rupture? I was first diagnosed with EDS back in 1994 it is since been changed to benign hyper mobility syndrome.Because I don’t have the vascular involvement and my understanding is they have change the designation for those of us that don’t have life-threatening disease.

Hi Karen and welcome. Thank you for bringing up the distinction between Ehlers-Danlos syndromes (EDS) and hypermobility spectrum disorders HSD. Here's further info from the Ehlers Danlos Society for anyone interested.
https://www.ehlers-danlos.com/what-are-ehlers-danlos-syndromes-eds-and-hypermobility-spectrum-disorders/
Karen, can I ask how you're doing and how you manage HSD?

@karen31 Karen, I have also been dX with EDS by a couple (actually 3) doctors. But the only real way to check the possibility is to go to : https://www.omim.org/entry/Ehlers-Danlos Find the Syndrome and/or Gene number(s). Order a genetics Whole Genome Sequencing Analysis from Nebula, Apollo, Sequencing, LivingDNA or one of the other genetics analysts, and see if you have one or more of the EDS numbers. If you do not, then you do not have the disease. I have at least one of the genes, but so far I can only find the one. So EDS is possible, but not yet proven.

I know this post is old, but did everyone find a doctor that can diagnose EDS? If not message me, I know of one.

What you're going through is almost exactly what my daughter has been experiencing for 4 years , We have been to every kind of specialist , and even her own PCP is at a loss . Finally ,
someone diagnosed her with EDS about a year ago because they couldn't figure out what else it might be . We have tried every source of pain relief , but to no avail . She still suffers daily .

I have had this and was diagnosed with hypermobility EDS . They can't do any genetic testing for it and you would be lucky to find a genetic 64 panel place. I hurt from head to toe always. I keep on getting surgery to help me but I sometimes think noone else knows how it hurts and feels. I get you

It only gets worse i feel bad for saying buttery to get hand and ankle braces for her.. Also knee if that's a problem too. Keep her active but on a low scale , she would rather not hurt jerself

The doctor is up in Northern Colorado at UCHealth are just getting around to knowing about EDS because they don’t know about EDS in the dog doctor at a doctor at orthopedic Of The Rockies finally diagnosed me with EDS and then I finally told my primary at UCHealth at Northern Colorado where I live in Colorado and they’re finally researching it and finally getting around to EDS. What did the doctors up northern Colorado don’t know didn’t even hear about EDS. It’s pretty sad that didn’t even know or couldn’t even diagnose me with EDS and I’ve been doing it for years when I had gas I had joint and stuff wrong with my joints and stuff wrong with stretchy everything pointing to EDS from heart problems to G.I. problems to bone problems to eye problems to everything else and they kind of figure it out to pain and migraines to neurological problems. They couldn’t figure it out now they’re barely coming to the conclusion of EDS And Genetics para Northern Colorado.