Rare Disease Day Part 1: Ehlers Danlos Syndrome (EDS)


The Ehlers Danlos Syndromes are a group of hereditary connective tissue disorders caused by defects in the collagen producing genes. Connective tissue is made up of collagen (which makes tissues strong) and elastin (which makes them stretchy). When the collagen is defective, one's tissues can end up stretchy-er and more fragile than they should be. While this may not seem like a big deal, it can manifest in many ways and cause a diverse array of challenges. There are currently 13 subtypes of EDS ranging from not uncommon to ultra-rare. There is much about EDS that is still not well understood, and the full range of systemic manifestations and impacts are still being researched (The Ehlers Danlos Society, 2022).

Relevance to SLP/AUD

  • Craniofacial features associated with specific types, can help lead to diagnosis

  • Oral (i.e., high palate) and dentation manifestations

  • Jaw manifestations (TMJ)

  • Muscle weakness, hypotonia, coordination may be impacted

  • Possible secondary GI manifestations that may require a feeding tube (dysautonomia, dysmotility, etc.)

  • Balance and coordination difficulties — sometimes with a Chiari Malformation

  • Early recognition and accurate diagnosis can lead to better management, prevention of progression, and — in some cases, such as with the more rare, more severe, and more vascular types — even lifesaving

  • And more!

My Story

Looking back, there were signs of EDS from an early age – frequent urinary tract infections, frequent ear infections from 6 months to 1 year old, easy injury, elbow dislocations, feeling like a “bag of bones” baby, and more. I was not officially diagnosed with EDS until 8th grade by which point I had already been told once that someone thought they had the wrong chart because I had “too many injuries to be so young”.

I have also developed an autoimmune disease which I was likely predisposed to because of the EDS. One theory is that since tissue integrity is lower in people with EDS, things can end up where they should not, which can confuse the immune system and ultimately lead to immune dysfunction and autoimmunity. From the overlap of my EDS and autoimmunity I have developed tracheobronchomalacia, intermittent and steroid responsive sensorineural low frequency hearing loss and balance difficulty due to cranial nerve VIII neuropathy, cranial nerve VI and VII neuropathies.


The Ehlers Danlos Society. (2022, January 26). What are the ehlers-danlos syndromes? The Ehlers Danlos Society. Retrieved February 21, 2022, from https://www.ehlers-danlos.com/what-is-eds/

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