It’s Ehlers Danlos Syndrome (EDS) awareness month, so I thought I’d finally make a post about what it’s like for me living rare with EDS and it’s (not-so) fun freebies that come along with it.
EDS is a group of hereditary connective tissue disorders that can affect multiple systems, including the autonomic nervous system. The dysregulation of connective tissue in EDS can impact the cardiovascular, gastrointestinal, immune, and autonomic systems, leading to structural and functional abnormalities.
EDS is a genetic and rare connective tissue disorder that is often difficult to diagnose, and is generally misdiagnosed for about 7-12 years before properly diagnosed. For me it took until I was 27.
My my great grandmother, grandfather, uncle, mother and son have/had it too, but we didn’t put it all together until I was diagnosed by 2 geneticists.
In our family, it’s characterized by a collagen construction issue in the body resulting in chronic pain, chronic joint instability, blood vessel and tissue fragility (think loose, twisty veins, poor blood pressure regulation, clotting problems, and ascending aortic aneurisms), and overactive histamine release, as histamines live in connective tissue and are responsible for inflammation.
Due to instability in my neck, upper ribs, collarbone, elbows, wrists, fingers, hips, spine, knees, and ankles, I have often been in support braces and used mobility aids like 6-point canes, crutches, and wheelchairs.
Sometimes, types of EDS can overlap. There are 13 known subtypes of EDS. In my case, our family presents with vEDS (the vascular & deadly type with aortic aneurisms), but I tested genetically for dEDS (Dermatosparaxis type, very rare), and have been considered to have hEDS (hypermobility type). Sometimes, there is not a straight answer.
EDS is finally getting some traction in the research world. A research study that impacts me right now is on the pathophysiology of autoimmune autonomic neuropathies in EDS as I have a pesky autoimmune autonomic small fiber neuropathy antibody called TS-HDS that attacks my nervous system every time my immune system gets triggered.
Autonomic neuropathy involves the dysfunction of the autonomic nervous system, which regulates involuntary body functions such as heart rate, blood pressure, and digestion.
In autoimmune autonomic small fiber neuropathies (what I have), the immune system mistakenly attacks the autonomic and small fiber nerves, leading to a range of symptoms including orthostatic intolerance/hypotension/POTS, resting tachycardia and gastrointestinal complications, along with damage and inflammation to the peripheral nerves associated with the arms and legs causing classic neuropathy pain, burning, tingling, temperature dysregulation, and more.
The pathophysiology involves the immune-mediated damage to autonomic neurons and fibers, disrupting the normal functioning of the autonomic nervous system and the peripheral nervous system.
POTS is characterized by an excessive increase in heart rate upon standing, often accompanied by symptoms like lightheadedness and near-syncope.
For me, this is a very trying time and this is where my electric wheelchair comes in handy.
My legs and arms are both heavy like I have iron boots on because the blood is pooling in my lower extremities and cannot get back up to my heart and brain appropriately. This is where compression leggings help.
Being upright is very difficult because I’m constantly dizzy, my head/neck/face/arms/legs/abdomen are on fire from neuropathy, and I cannot regulate my heart rate. I’m anywhere from 38-200+bpm. So fun! This is why I need to lay down so much.
Eating is troublesome because my stomach is burning, I have consistent nausea, and swallow syncope is a real issue. This is why I just lost 10 lbs inadvertently.
These are only a fraction of the issues that come along with EDS. I could keep going but the post would become too long.
If you have #EDS, you are a warrior. We are #ZebraStrong.
Thanks for listening to my story about #EDSAwarenessMonth.
Hoelle Holistic Health and Spa 
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