Ehlers-Danlos Syndrome

From the EDNF website, the definition of Ehlers-Danlos Syndrome:

Ehlers-Danlos syndrome (EDS) is a group of inherited connective tissue disorders, caused by various defects in the synthesis of collagen. EDS is known to affect men and women of all racial and ethnic backgrounds.

There are six distinct types of EDS currently identified. All share joint laxity, soft skin, easy bruising, and some systemic manifestations. Each type is thought to involve a unique defect in connective tissue, although not all of the genes responsible for causing EDS have been found.
These six types are defined according to the signs and symptoms that are manifested, in a set of major and minor diagnostic criteria for each type. Each type of EDS is a distinct disorder that "runs true" in a family. This means that an individual with Vascular Type EDS will not normally have a child with Classical Type EDS. There a number of mutations identified as Ehlers-Danlos syndromes since the 1997 diagnostic criteria; these lie outside the classifications and can be located through the OMIM/Online Mendelian Inheritance in Man® database from Johns Hopkins University."
Symptoms of Ehlers-Danlos Syndrome can include: 
  • Severe headache and neck pain
  • dizziness
  • lightheadedness
  • nausea and/or vomiting
  • vertigo
  • palpitations
  • difficulty swallowing
  • visual disturbances
  • ringing in the ears
  • sleep apnea
  • impaired fine motor skills
  • and/or muscle weakness
  • velvety or stretchy skin
I have Hypermobility Type EDS, for which recurring joint subluxations and dislocations are common occurrences. Chronic pain is a well-established and cardinal manifestation of Hypermobility EDS and it is common for pain to be out of proportion to physical and radiological findings. The origin of the pain is not clearly understood, but some of the likely causes include muscle spasm (tender points are sometimes present) and degenerative arthritis; neuropathic pain is also common.

If you would like to know more, and enjoy the rabbit hole of researching for yourself, here are a list of websites on EDS:
United States:

Th Cusack Protocol is a protocol of supplements that is really making a difference in the lives of people with EDS. It's not a cure, but a way to live more comfortably with EDS. 

There is a Facebook page with all of the protocol and research documents, which is also a wonderful support group. And there is a YouTube channel with a lot of great information about the science behind the Protocol. 

The Murray-Wood Foundation serves as support, education and as an advocate for patients and caregivers dealing with orphan diseases not limited to but including Ehlers-Danlos Syndrome, Arnold Chiari Malformation, Tethered Cord Syndrome, Syringomyelia and Mastocytosis/Mast Cell Activation Disorder as well as providing charitable giving to other non-profit organizations for research regarding said diseases.

Ehlers-Danlos Syndrome Network has lots of information on what EDS is, the different types, how to diagnose, and lots of other resources for EDS patients. 

Medical Zebras has good info on cervical instability and Chiari issues (also linked to EDS).Pretty Ill. Dr. Diana, both a doctor (therapeutic optometrist) and a patient (on professional disability), offers help and hope for Multiple Sclerosis, Ehlers-Danlos syndrome, Dysautonomia, POTS, vascular abnormalities, Chronic Lyme, Chronic Fatigue and Fibromyalgia.

Center for Ehlers-Danlos Syndrome Alliance has EDS support, awareness, lots and lots of helpful information about EDS and treatment. 

Ehlers-Danlos National FoundationBy leading the search for knowledge about EDS, we are building a community of people who work together to effect change. 

United Kingdom

Ehlers-Danlos Support UK . EDS UK was set up in 1987 to support, advise and inform those living with Ehlers-Danlos Syndrome and help them live a full, active and positive life.   We are the only UK based charity that exclusively represents and supports people with any of the types of EDS.  This is regardless of their position on the EDS spectrum.  

Hypermobility Syndromes Association. Providing support and advice for people with hypermobility. Is good for the Brighton criteria, which is often used to help diagnose EDS hypermobility type. 

No comments:

Post a Comment

Thank you so much for commenting, it is always a pleasure to hear from anyone who is reading. Note that all comments are moderated, so when you post your comment, it will show up once its been reviewed. Thank you for your patience and your time. You are beautiful!