Ehlers Danlos Syndrome: Can't get diagnosed

Posted by dianeehlinger @dianeehlinger, Apr 20, 2021

Somebody please help me. I think that I have been dealing with ehlers danlos syndrome most of my life. I am currently seeing a plethora of specialists none of whom look at the whole me. I am frustrated to the point of tears. It is now about 3 am. Sleeplessness and restless leg syndrome are just two of my symptoms. Add chronic migrating joint pain, GI and urinary problems, and anxiety issues.

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Erika | @erikas | Apr 20, 2021

@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?

dianeehlinger | @dianeehlinger | Apr 20, 2021

In reply to @erikas "@dianeehlinger Welcome to Mayo Clinic Connect, a place to give and get support. It sounds like..." + (show)

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.

karen31 | @karen31 | Apr 23, 2021

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.

Colleen Young, Connect Director | @colleenyoung | Apr 23, 2021

In reply to @karen31 "Can I ask what area of the country you’re located in? Also are you having any..." + (show)

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?

oldkarl | @oldkarl | Apr 25, 2021

@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.