After a Rare Disease Diagnosis: My Avalanche of Comorbidities

When I was diagnosed with my first rare disease, I got sicker.

What? Of course not. Getting a diagnosis doesn't change how sick you are or how many symptoms you have. But in my case, receiving a hypermobile Ehlers-Danlos syndrome (EDS) diagnosis at 29 meant I was suddenly taken seriously after living with debilitating symptoms for years and always being told it was nothing or was in my head.

After years of having to fight for referrals and tests, I was suddenly referred to multiple specialists to look into my symptoms, to try and help me, or simply to monitor things, as EDS put me more at risk for other health issues, like digestive or eye problems.

So I went from knocking on doors and being dismissed, from seeing specialist after specialist once or twice (just enough to order tests and then say they couldn't do anything and everything was normal) to regularly seeing an internal medicine doctor, a geneticist, a cardiologist, a neurologist, a gastroenterologist, an ophthalmologist, and an endocrinologist. I finally had a care team!

So many appointments, specialists, and tests

This wasn't fun, as I now had multiple medical appointments each week. And it was so tiring. Not only to get there and back or to endure the usual long waits, but emotionally draining – each time worrying about how I would be received, and each time having to tell my story all over again. Plus, since EDS is rare and was even less-known then, I had to explain that diagnosis, too.

With those specialists and tests came the secondary diagnoses, or comorbidities. Over the first few years, they started piling up.

Then came my comorbidity diagnoses

The internal medicine doctor diagnosed me with hypovolemia (low blood volume), dysautonomia (it turns out I had postural orthostatic tachycardia syndrome), and Raynaud's syndrome. She noticed my Raynaud's syndrome as I walked in the room for the first appointment.

The cardiologist discovered I had arrhythmia (both bradycardia and tachycardia) and extrasystoles (skipped heartbeats). He also confirmed the postural orthostatic tachycardia syndrome diagnosis, of course.

The endocrinologist told me I had a vitamin D deficiency. This, to me, is a perfect example of little things suddenly being seen. I'm sure I had this issue for years, maybe forever, but only when I saw this doctor at age 33 and with a main diagnosis of EDS did I hear about it and get prescribed supplements.

The gastroenterologist diagnosed my gastroparesis after years of digestive issues.

The ophthalmologist told me I had a meibomius gland dysfunction (thus, chronic dry eyes). I'd been complaining of dry eyes for decades!

My rare disease diagnosis shed light on my other diagnoses

I also saw a few specialists just once or twice, like the audiologist who said I had hyperacusis on top of my tinnitus and even explained how my connective tissue problems were behind it.

Some unimportant symptoms also got names. For example, the weird bumps on my heels are piezogenic papules, and the way my scars look is called atrophic scarring.

I had all of those problems before I saw those doctors – most happening for years, some since birth! But once I had an EDS diagnosis, those issues deserved attention and their own diagnoses. More importantly, for some, it meant I had treatments!

It wasn't 'all in my head'

So, no, I didn't get more diagnoses because I was sicker. And having names to put on various health issues didn't mean I had more. But it helped me confirm that it wasn't "all in my head." It helped me make sense of what I was going through. This is why I believe it's important to fight for the right diagnosis!