Monday, January 26, 2015

the diagnoses keep on coming

I've spoken a little bit about what has been going on with my health in this post, when we went to the UROCK Unschooling Conference, and in this post, when I meant to talk RVs, but instead got sidetracked by my fatigue and pain. Oh, and in this post, where I talk about why the RV, and how we need to sell this house.

And since those posts, I've been doing more investigating, more research, more doctor visits, more trying to get to the root of all of this, so somehow I can find a way to get back in balance, or at least try to, and to regain some of the person I used to be. Because everything listed in those previous posts tends to have all manner of co-morbidities, and they are all connected, but thus far none are pointing to the root cause of the problem, which is what I REALLY want to find.

A few months ago, I was led to a specialist three hours from here who is a geneticist/pathologist, who specializes in diagnosing/tracing connective tissue disorders. I was led there by members of an EDS group on Facebook, who share valuable information about symptoms, treatments, health care providers, and just support each other in general, sharing the knowing of what it's like living with connective tissue diseases.

I went to see him, he took an incredibly thorough family medical history, asked me an incredible array of my own health history questions, then ordered some tests: a cardiac echocardiogram, a standing MRI and CT scan of my whole body, which can only be gotten (around these parts) another three hour drive in the opposite direction.

I see him again on Monday the 26th, and my son is going this time, because I can see that he has the same hypermobile symptoms, and I want to know how to best manage that for him and keep him as healthy as possible throughout his life, so maybe he doesn't have to live in this kind of pain as he gets older. There is so much I could have done to support my healing had I known I had this disorder many many years ago.

Right now we are still in process of official diagnosis, so all we know for sure is that I have some type of idiopathic connective tissue disorder, hypermobile type. It could be Ehlers-Danlos Syndrome, or it could be something else. This is what the doctor is currently investigating.
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

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:

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 UKEDS 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. 

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