Home Ehlers-Danlos Syndrome Research Foundation

Hello, my teenage daughter is being evaluated soon by cardiology, for possible EDS diagnosis. Are there good doctors for this at the MN location? Finally, your doctor will ask about “musculoskeletal complications” in part C. Musculoskeletal refers to your bones, muscles and joints. In Part C, there are three complications that can be considered for diagnosis, and for hEDS, you must meet at least one. So far, there is no treatment for the underlying condition of hypermobile Ehlers-Danlos Syndrome.

For the past 2 years, she has been in a fairly steep decline. She has severe POTS, and is bedridden by it except for perhaps 1-2 hours a day when she can be sitting up in her wheelchair. Her legs are constantly blue-purple from blood pooling, despite keeping them constantly elevated. She has recently begun having breathing problems, and her doctor is thinking that an oxygen tank is in her near future.

EDS, however, is caused by changes in your collagen genes, which isn’t typical in autoimmune conditions. An autoimmune diagnosis can usually be identified or ruled out using blood or other lab tests. 53 women in the cohort had a combined total of 114 pregnancies.

Ehlers-Danlos syndrome care at Mayo Clinic

Being a partner to someone with a chronic illness means that your life will be dramatically affected too. It’s like having a third person in the relationship. I know you said your relationship is new, but if you feel like things were meant to be between the two of you, then you need to also be sure that on a personal level you are ready to choose a life that is “not normal”. I am unable to have children, travel, do my own cooking or housework, I can barely be touched because of my pain due to the chance that my neck will dislocate, etc. We are lucky if I have one or two “ok days” every few months. Once my boyfriend decided that he enjoyed and loved WHO I am, he also had to decide that if he really thought he could be happy in a life with WHAT I am.


’ doesn’t really work because everything kind of does. Ask things like, ‘does this feel better this way or do you prefer x? There’s a lot of that content on TikTok and YouTube.

Doctors might assume your discomfort is just a result of “growing pains.” It may take the progression of several of your symptoms before doctors are able to recognize you have EDS. We have highlighted the importance of lifestyle measures and the key role of MDT discussion for management around pregnancy and other surgical interventions. The tissue fragility risks cause both a higher incidence of sudden, severe and life-threatening complications, as well as creating additional challenges for medical intervention. 72 patients (40%) had a total of 165 vascular events . Of these 36 (50%) had a single event and the maximum was 9 vascular events in one patient.

Depending on the type, EDS can be diagnosed through laboratory studies or clinical examination. Once the syndrome has been diagnosed, preventative measures should be taken. Currently, 31 patients with clEDS due to tenascin-X deficiency have been reported. Here we report on 20 patients who fulfill the new diagnostic criteria for clEDS and have a molecular diagnosis of clEDS.

Phenotypic features

And we still don’t fully understand what causes these underlying genetic issues. Ehlers-Danlos syndromes are inherited connective tissue disorders, characterised by joint hypermobility, skin hyperextensibility, and tissue fragility. Hypermobile Ehlers-Danlos syndrome is the most common of 13 subtypes. I cannot speak for the MN location, but Mayo Clinic in Jacksonville, Florida has an Ehlers-Danlos specialty clinic! They are WONDERFUL- I have never experienced such compassionate care; that says a lot considering I’ve seen loads of doctors over the years. The EDS specialist was able to see me over the summer, order tests and genetic panels, and confirm the diagnosis of Hypermobile Ehlers-Syndrome recently .

Diagnosis and management of vascular Ehlers-Danlos syndrome: Experience of the UK national diagnostic service, Sheffield

My husband realizes this, and doesn’t commit us to things at a specific time. Imagine getting on a treadmill and running to get your heart rate up, and then imagine yourself doing it every time you stand. Or just spend a day running in place every time you stand up.

Premature birth was recorded in 27%, far higher than the current UK premature birth rate of 8%. Of those where the Beighton score was recorded 64.1% had small joint hypermobility of their fingers, fewer (32.8%) had generalised go hypermobility with a score of 5 + . Confirmation of the diagnosis was made in all cases by genetic testing. The UK EDS National Diagnostic Service was established in 2009 to improve diagnosis of the rare types of EDS.