What I need you to understand about POTS and rare diseases

Happy Rare Disease Week!

This is a tremendously important week to focus on advocating for recognition of rare diseases and the people who live with them, raising awareness of how common they are and how many people live with them, and teaching the public what needs to be done in the research community to eradicate them and/or help individuals live better lives with them. (Whew! What a sentence. Talk about run-ons. Please don’t tell my high school English teachers, they always got on my case about those.)

I whole heartedly support Rare Disease Week and the ultra superstar rockstars of it (lookin’ at you, Sick Chick Shira Strongin)—but I feel like it’s very important for me to use my voice to make some clarifications about the disorders I do live with—and to make sure y’all know, while I’m one of a kind, I’m not very rare.

Photo of Shannon holding two identical shirts saying "One of a kind"

I’m probably about as rare as these t-shirts (Photo by Diana DiGangi)

There’s a very common misconception that POTS, because it’s not well-known, is a rare disease.

This could not be farther from the truth.

The NIH says a rare disease in the United States is a condition affecting 200,000 or fewer people. According to peer review studies, POTS affects anywhere from 1 to 3 million Americans and according to Mayo Clinic, it can affect up to 1 in 100 teenagers. (Woohoo! I was one of those.)

The funny thing about POTS is that once you learn about it, once you meet someone who has it, you start finding POTSies EVERYWHERE. Immediately after my diagnosis, I found out that a girl I’d known for years was also in the process of getting a diagnosis. I threw myself into the POTS community, and people started sharing stories exactly like that with me. Their friends, their neighbors, friends from school and church, also discovered they had POTS soon after their friends got their diagnoses.

There are a few reasons POTS gets the misnomer of “rare.”

The primary reason is because of the lack of education surrounding POTS and dysautonomia in the physician community. You can always rely on the saying, “POTS is not rare, it’s just rarely diagnosed.”

The diagnostic delay for POTS is still in the ballpark of about six years—although it’s shortening all the time thanks to the efforts of Dysautonomia International. (Rock on, DysIntl!)

But I think there’s a another reason surrounding the fact that POTS carries the mistaken label of “rare.”

In our journeys through chronic illness, we’re often written off as “just another” patient by doctor after doctor.

I know with one of my doctors, I like to smile and say “hey, I’m one of your most complicated patients, right?” while they scribble away on my chart because it brings me comfort in that if my case is somehow special and complex, it validates the pain and suffering I go through. That if my pain was average, I wasn’t as much of a survivor.

I know that’s not true, but it’s a habit of thinking I get sucked into all the time, and I feel like this happens to a lot of us and the doctors we get shuffled around to see.

When the title of “rare” floats around and gets mistakenly applied to POTS, I think a lot of members of our community sometimes like to take it with pride and say, “hey, my journey is rare and unique because my disease is rare and unique!” even if it’s not true about the disease.

I know I wanted to do that at first too—the title of rare is all too appealing! It makes us different and exclusive, and it gives credence to the difficult journeys we’ve gone through.

It’s damaging, though. Because by spreading incorrect information about the illnesses we live with, we damage our credibility as a patient community, and we spread the notion that someone has to have a rare disease to live a unique experience.

I know for a fact that people with rare diseases do not feel that way at all.

And it’s critical that in order to be allies to people in the rare disease community, we respect the truth of our diagnoses and respect their space in our community of chronic illness. Everyone has a place in this community, and we need to respect the space that belongs to every one of us.

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Since this blog is called Dysautonothankyou, I’d be remiss if I didn’t mention that there ARE rare forms of dysautonomia—I just happen to have the crazy common POTS. I wanted to list all of the forms of dysautonomia and mention which are common and which are rare—not as a “who’s who” but rather an educational reference.

(Unless stated, all of the following facts and statistics were gathered from Dysautonomia International.)

  • Postural Orthostatic Tachycardia Syndrome – not rare – 1 to 3 million
  • Neurocardiogenic syncope – not rare – “It occurs relatively often in all age groups, ranging from 15% in children aged under 18 years to 23% in elderly patients aged over 70.” -NIH
  • Inappropriate Sinus Tachycardia – not rare – impacts 1.2% of the population
  • Pure Autonomic Failure – rare
  • Autoimmune Autonomic Ganglionopathy – very rare – approximately 100 Americans diagnosed a year
  • Multiple System Atrophy – rare – 350,000 people worldwide
  • Autonomic Dysreflexia – not rare
  • Baroreflex Failure – rare – AHA Journals
  • Cerebral Salt Wasting Syndrome – rare
  • Diabetic Autonomic Neuropathy – not rare – estimated 69 million people worldwide (20% of all diabetics)
  • Familial Dysautonomia – extremely rare – only 350 people worldwide
  • Panayiotopoulos Syndrome – not rare – “13% of children aged 3 to 6 years who have had 1 or more afebrile seizures and 6% of such children in the 1- to 15-year age group.” –AAP Journals 
  • Reflex Sympathetic Dystrophy (Complex Regional Pain Syndrome) – somewhat rare – up to 200,000 individuals in the United States -RSDSA 

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Now, in the interest of full disclosure (after I’ve talked about how common I am), I *do* have Ehlers-Danlos Syndrome, which is a rare disease, but my subtype, Hypermobility Type, is one of the most common forms of EDS. (A common rare disease is kind of an oxymoron, I know, but work with me.) The NIH estimates that EDS occurs in at least 1 in 5,000 individuals globally, and EDS Hypermobility type occurs in 1 in 5,000 to 20,000 people.

While this makes me a rare disease patient, EDS doesn’t feel like one of my major illnesses. The three things I focus on every day are my POTS, depression, and anxiety.

Since I don’t always feel like I can hold up that banner of “rare disease patient,” (I need to work on feelings like I can “own” my illnesses), in the mean time I can focus on doing what I can do be a rare disease ally—which to me, means following the blogs and Twitter feeds of leaders of the community, sending some e-mails and making some phone calls to my legislators asking them to support legislation that favors the rare disease community, and doing my best to listen to stories.

Rare Disease Day is February 28, and I hope all of you with rare diseases will share your stories, and everyone who wants to support a great cause will check out some of these resources:

The sleep study I didn’t sleep for
I’m going for the title of World’s Worst Patient

Comments

  1. Great essay, it clarified the real issues and certainly made me a supporter of efforts to help defeat this maladie which is all too common today.

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