Blog · Disability

Another Diagnosis (Or Two) For My Ever-Expanding Collection

It’s been a while since I posted anything here, so here are some quick updates for all of you:

  • My fiancée and I moved to Austin mid-December.
  • I got a job! I’m working in a preschool; it’s in person, and honestly, I’m stressed about how it’s going to affect my health long term1. Let me know if you’re curious to hear more about my job and feelings about it! It had been 10 months since I was last employed, so I’m super grateful to have a steady source of income again. However, it’s been taking up a ton of my time and energy, so I haven’t been able to upload a video to YouTube since starting. I’m hoping to upload another video soon, but we’ll see when this Austin snowstorm lets up2.
  • Turns out I have ADHD in addition to being autistic. I’m looking for medication to manage my symptoms, but no luck so far.

Now that I’ve gone over some of the updates, we can move onto the big news: a new diagnosis that brings together tons of symptoms I never thought could be connected. For over a decade, I’ve been dealing with seemingly unconnected symptoms, from incredibly painful menstrual periods to chronic migraines to dizziness/light-headedness. Prior to speaking with my current GP, I had no idea these symptoms even could be connected; I thought there were lots of little things wrong with me, with no overarching cause. Over the last year or so, my fatigue and joint pain got significantly worse, to the point where I could only walk 5-10 minutes before my joint pain got too bad, and standing for long enough to cook a meal became unbearable. After a few months of pain and fatigue continuing to worsen, I started looking for answers. The first doctor I spoke to thought I might have rheumatoid arthritis, lupus, or another autoimmune disorder, so I had several blood tests done to check for them. 

Once results came back, there were no indications of an autoimmune disorder. I found myself feeling discouraged and hopeless, unsure of how to proceed. It was then that Naveen found my current GP on the telehealth platform we use. Her bio said she specialized in helping people with ‘mystery’ chronic illnesses figure out what’s going on, so I decided to make an appointment with her. In my first appointment, she listened to my elevator pitch version of my medical history and asked me if I’d ever heard of EDS. I had, but I didn’t know enough about it to consider it as a potential cause of my issues. A few visits later, I had a new diagnosis.

hEDS: hypermobile Ehlers-Danlos Syndrome

Photo of a zebra on a white background.
Zebras are a common symbol for people with EDS.

The Ehlers-Danlos Syndromes (of which there are 13 subtypes) are genetic connective tissue disorders. Every EDS type, except hypermobile, can be diagnosed through genetic testing, but the gene(s) responsible for hEDS haven’t been identified yet. Since hEDS can’t be diagnosed through genetic testing, it can be difficult to diagnose, especially because symptoms can mimic those of several other conditions, like rheumatoid arthritis and lupus, which must be ruled out3 prior to diagnosing hEDS. Let’s break this down a little more:

What is Connective Tissue?

Connective tissue is exactly what it sounds like–the tissue all throughout our bodies that connects parts to each other. It includes things like cartilage, ligaments, and even bones. Since connective tissue is just about everywhere in our bodies, EDS can affect many different organ systems.

Hallmark Features of hEDS

  • Hyperextended joints (double jointedness)
  • Hyperextensible skin
  • Particularly soft/velvety skin

How Does EDS Affect Me?

Ehlers-Danlos Syndrome seems to be the underlying cause of many previously unexplained problems. In my case, for example, these problems include:

  • Chronic migraines
  • Joint pain & subluxations (partial dislocations)
  • Chronic fatigue
  • Painful periods
  • Dizziness & other symptoms in line with POTS4 (jury’s still out on whether or not that diagnosis will be added to my collection)
  • Chronic widespread pain
  • Disrupted sleep
  • Brain fog
  • Gastrointestinal issues

On a day-to-day basis, my symptoms are quite variable. Some days I have very little joint pain, while on others my pain necessitates the use of forearm crutches and/or joint braces.

Comorbidities & hEDS

Comorbidity: “a disease or medical condition that is simultaneously present with another or others in a patient.”5

Many of the conditions that could be referred to as comorbidities can actually be traced back to hEDS as their base cause. Some conditions commonly comorbid with EDS include POTS, Mast Cell Activation Syndrome, and gastroparesis, to name a few. While many ‘comorbidities’ can be traced back to EDS as their cause, other diagnostic terms are often applied in order to assist with getting the correct treatments as needed.

No two people with Ehlers-Danlos Syndrome–even if they have the same subtype–will experience it in the same way.

EDS is often called a “rare” disorder, but current research points to this designation as being false. Rather, it is frequently misdiagnosed or undiagnosed altogether. This is in large part because so many doctors and other health professionals don’t know what it is.

Cover of a book called Disjointed. The cover shows black rock with a crack down the middle, showing molten lava.

If you’re interested in learning more about hEDS, this book is a fantastic resource, though it is quite long.

Illustrations of the movements performed in the Beighton test.
The movements that make up the Beighton Test, one of the measures used to diagnose EDS.

If you think you may have Ehlers-Danlos Syndrome, you can try the Beighton Test at home as a preliminary step. Since so many doctors don’t know much about EDS, you will likely need to prepare to educate your health providers and advocate for yourself. Joining EDS support groups online can be great for finding community and can help point you toward good resources.

  1. I originally wrote this post a few months ago, and I have since left my job. I was correct to be worried about the longer-term health effects of the position.
  2. A video, dear reader, was not released after the snowstorm. My job was taking all of my spoons and time, so I have not put out a video since before I started the job. Now that I’m not there any more, I hope to publish more videos soon! I have so much footage that needs to be edited and posted.
  3. There are some cases in which one can be diagnosed with both Lupus/RA and EDS, but there are added diagnostic criteria.
  4. Postural Orthostatic Tachycardia Syndrome
  5. Source: