misdiagnoses

When Annie Segarra goes about her daily life, it's not immediately obvious she's in pain 24/7.

Since she's so used to living with discomfort, she's able to walk around for a few minutes, but any longer than that, and she has to sit down and rest. However, the fact that she's not always in a wheelchair makes many passersby question wether or not she really has a disability and often results in judging looks and harsh words.

"They can't see that you're in pain because you look 'just fine,'" Segarra explains.

All photos via Annie Segarra, used with permission.

Segarra has Ehlers-Danlos syndrome (EDS), which is a rare connective tissue disorder that affects collagen in the body and causes joints to stretch farther than normal. While that may sound like some sort of superpower, it's anything but, and it's also just the tip of the iceberg in terms of the symptoms that people who have it experience.

Since collagen runs through the entire body, EDS acts as an umbrella for a seemingly endless list of disorders, including poor vision, chronic fatigue, and joint pain. It's also likely connected to postural orthostatic tachycardia syndrome (POTS), which causes a person's blood pressure to drop and heart rate to spike upon standing.

Segarra lives with all these symptoms and many others, but more often than not, they are invisible to the outside eye.

The discomfort and anxiety that accompanies this is enough of a strain, but when you tack on doctors and everyone else not believing you're in pain, everything's amplified.

"It feels like being at the bottom of a well shouting up and there's nobody there," Segarra says.

Annie with her cane dealing with a pain spike at the grocery store.

What's worse, a large part of why she went undiagnosed for so long was because doctors continued to downplay and dismiss her symptoms and self-diagnoses.

Segarra actually started having symptoms as early as infancy, but she didn't realize they might be connected until she reached her early 20s.

She was working two jobs and taking care of her sister who has autism when she started experiencing severe pain in her feet while standing. One of her jobs at the time was as hostess at a restaurant, so she was confronted with that pain quite often, but she thought it might just be an intolerance to wearing heels.

When it got to the point where she could barely stand at all, she went to a see a podiatrist. He took an X-ray of her feet while she was standing, and it looked like she had flat feet. He assumed that was the root of her pain, so he prescribed orthotics. (Later Segarra would learn that people with EDS often appear to have flat feet because of how their hyperactive joints react to weight.)

After orthotics did nothing to help, the doctor suggested creating arches in her feet surgically. Not knowing what else to do, Segarra agreed.

The surgery left her in an unimaginable amount of distress and unable to walk for close to a year. But it also ultimately led to her diagnosis.

Annie in the hospital.

Segarra learned she was strangely immune to anesthesia — another EDS-related symptom. After six months in a wheelchair caused extreme back pain, she got an MRI that showed something unusual: She appeared to have dislocated joints all over her body.

By that time, she'd been documenting her journey with chronic pain via a video blog for about two years and was regularly communicating with other chronically ill and disabled people online. When she described her symptoms, EDS had kept coming up. However, every doctor she mentioned it to dismissed it until the moment she broke down in front of her spine specialist.

At that point, she had been managing escalating symptoms on her own for over a decade, and every time she tried to get answers from a doctor, they either had no advice or mocked her for self-diagnosing such a rare disorder. She was scared and exhausted and had finally had enough.

Thankfully, a doctor (who happened to be a woman) came in at that moment and really listened to what Segarra had to say. The doctor admitted to not knowing about EDS, but after looking it up on her phone, she turned to the primary specialist and said, "She could have this."

That was the tipping point. From there, Segarra was referred to a geneticist who recommended a chromosome blood test to find the genetic variant for EDS. Six months later, she had an official diagnosis.

After all that, Segarra still calls herself lucky because her diagnosis only took three years to get. Many people with similar "invisible" disorders aren't so fortunate.

The experience set her on a mission to change the misconceptions surrounding disabilities and educate others about the many ways one can be impaired.

Ever since middle school, Segarra's been an activist for one cause or another. As a queer Latinx woman, she always had a lot to fight for, but after experiencing years of blatant disregard for her disability, this fight reinvigorated the rest.

"Becoming disabled made me look at my activism real hard," Segarra says.

She uses her skills as a performer and storyteller to give a face and voice to her illness. On her YouTube channel, she confronts the prejudice people with less visible disabilities face on a daily basis.

Segarra has firsthand experience being called a faker simply because people don't realize that some disabilities don't require people to use an assisting device like a wheelchair all the time.

A note someone left on the car of a person with an invisible disability.

She also explores how having a disability affects things like body positivity and being in the LGBTQ community.

Unsurprisingly, Segarra's passion and strength is affecting a growing number of followers, but she knows there's still much more work to be done.

Right now, there's hardly any representation of people like her in media, which makes it easy for the world to remain ignorant about them. For example, Segarra had a heck of a time finding a character to be for Halloween because people with disabilities barely exist in pop culture.

But her activism is slowly but surely changing peoples' perceptions. She says she gets lots of comments like, "Thank you for saying this because I was one of those assholes who thought like this."

She's also helping people who are still searching for a diagnosis realize they're not alone on their journey.

Segarra hopes that one day, no one will be discounted for having a less visible disability. However, for that to happen, we have to learn to quell their snap judgements, and that starts with admitting we don't know what all disabilities look like.

Learn more about how to spot disabilities (spoiler alert, you can't) here: