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.


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 


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:

Why I’m very suddenly excited about health policy legislation

This is Shira Strongin. She runs the blog and community The Sick Chicks which is pretty great and you should head over there sometime soon if you aren’t already familiar.

Shira received the Amelia Moore Sparkle Award at #DysConf recognizing her advocacy for fellow dysautonomia patients

Shira received the Amelia Moore Sparkle Award at #DysConf recognizing her advocacy for fellow dysautonomia patients

We met this year at the Dysautonomia International Conference and became prettttty good friends and the fact that we weren’t best friends until now is a crime.

Shira and I got very close very quickly. And Katherine approved.

Shira and I got very close very quickly. Katherine approved.

Along with our #DysConf buddies, we ate a lot of kettle corn, sang songs from Hamilton, had a lot of fun with emojis and social media’d it up. (#DysConf is the best parts of summer camp combined with a medical conference. It’s everything you never knew you needed.)

Anyways, when this excellent human isn’t busy battling chronic illness head on, she’s advocating on behalf of fellow Sick Chicks, rare disease patients and chronic illness spoonies while being a catalyst for making meaningful legislation happen. (NO BIG DEAL, except it is.)

Shira’s current projects are helping push the 21st Century Cures Act and OPEN Act through Congress. Because yes! Citizens are a part of the legislative process. (See: Schoolhouse Rock for some basics.)

So rather than macerate the descriptions of Cures and OPEN Act, I went to the source to get the best information possible. Also, because only Shira can answer a few of these questions.


Q&A with Shira

How are you?!

Missing you! Health wise though: I’ve had quite a few bumps in the road recently, but that’s part of the life with rare disease.

(editor’s note – I miss her, too.)


How long have you been working on 21st Century Cures and OPEN Act?

I’ve been working on both Cures and OPEN Act in various ways for a little over a year now, so pretty much since when they were introduced, but it’s crunch time right now for Cures as the vote is coming up in September, which Senate has been pushing off even after it overwhelmingly passed in the House.


Explain Cures and OPEN Act in emojis OR 10 words or less

Oh heck yeah, I’m doing this in emojis


21st Century Cures Act




What is the most important thing you want everyone to understand about these pieces of legislation?

Okay, so I’m going to have to say two things:

  1. Cures are for everyone
  2. Yes, 21st Century Cures is extremely costly, but progress always is. What better thing to invest in than our future? By investing in healthcare we are literally doing that.


What can rare patients, Sick Chicks and chronically ill patients look forward to if these pieces of legislation pass?

Basically an overhaul of the currently malfunctioning medical system, and turning the focus around on; discovery, development, and delivery through:

  • More research
  • Increased funding for the National Institute of Health
  • More clinical trials
  • Better and more affordable access to medications (including off label medication)
  • Precision medicine being practiced
  • For rare disease patients, with OPEN Act, current off label treatments have the potential to become approved therapies
  • Etc.


Why do these things matter outside of the rare disease and chronic communities?

  • 1/10 people have a rare disease. Even if you’re not affected by a rare disease, everyone knows someone, so care for you sibling, your parent, your weird-distant cousin.
  • If 1/10 people have a rare disease, imagine how many people have more common chronic conditions? Same logic applies.
  • Just because you might not be sick now, [it] does not mean your future is guaranteed. And because of that “in case” we all need to be aware of major health legislation like Cures and OPEN Act that will be life changing and saving.
  • Health is a universal, bipartisan issue. We need to step up and show that we give a damn about our future.


Why is amplifying other youth voices in your advocacy important to you?

Youth are the future. Every piece of legislation in talks now affects us so greatly because these are shaping our future. As someone whose future is always called in question, confidence and having say in your future is powerful.

Because of my health I’ve had to accept how much of my life is out of my control, but being involved with legislative advocacy allows me to take back some level of control. I want others to realize what a unique and important voice they have along with just how much of an impact they can make.

With Cures and OPEN Act being health policy, I think it’s even more important youth voices are heard because for many of us without this legislation we will most likely not have a future. We are running out of time, and we need #CuresNow.


What is the best way to get involved?

In Sick Chicks I wrote a post about “The Fight For Cures Now” with some action items, and I’ll list some here as well!



A million thank yous to Shira for (1) being generally great, (2) acting to make real, positive change happen for people who need it, (3) DOING ALL OF THIS WHILE SHE STARTS HER SENIOR YEAR OF HIGH SCHOOL. This girl can get it.

And I encourage you to support these acts. I’m not claiming to fully grasp or understand how any of this will work out should they become law. But I do know that there are people much smarter than me who believe in this legislation, understand it, and know how to put it into action so that people like me, like Shira, like our friends and our loved ones and people we have yet to meet, can live better, healthier and longer lives.