The Mighty Logo

6 Hidden Obstacles People With Rare Disease Face

The most helpful emails in health
Browse our free newsletters

As someone who has a rare disease that almost no one I talk to has heard of, I can attest that there are a lot of factors to having a rare disease that most people don’t think about. I have Stickler syndrome, which is a hereditary condition that affects connective tissues and often comes with severe near-sightedness, potential hearing loss, unique facial features and a lot of joint problems, beginning at a young age. Roughly 1 in 10,000 people in the U.S. have Stickler syndrome and fewer than 20,000 new cases are diagnosed per year.

But I’m not here to complain about my condition or inform people what it really is, although some of the following points I’ll make may do so. I’m here to tell you the obstacles that come with having a diagnosis almost no one has ever heard of.

1) Having to be the one to explain your rare disease to your doctor.

This one is the biggest obstacle by far — especially when I was younger. It made me terrified to go to doctor’s appointments alone because my mom was an expert at explaining it while I had no idea what things like “severe myopia” or “connective tissues” were. So, I had to stick to a script until I got older. At 16 when doctors asked, I would simply explain, “It’s a group of connective tissue disorders that comes with really bad vision and joint problems.” Did I know what connective tissues were at the time? No. I had no idea. But unfortunately, most medical professionals have no idea what Stickler syndrome is, so it becomes up to the patient to inform them.

2) Worrying that others (including medical professionals) will think you’re making excuses for yourself, despite knowing your symptoms are real.

I work in a job that requires us to be trained in safety protocols for crisis management and at the beginning of every training, I always have to anxiously tell the instructor that I have arthritis in my knee and can’t kneel down repetitively to practice safety holds. It also comes up when I go to the doctor and need to explain my joint pain, along with my illness (again). Whenever I have to disclose this information, it’s hard not to be anxious over what other people think of me. I’ve had doctors tell me it’s because of my weight or that I just need to do yoga, drink more water, or eat healthier. However, I’ve had severe joint pain since I was 20 years old and much lighter in weight, so while those things may help, they’re not going to make my joint pain go away. That’s a large part of why explaining these symptoms to people at such a young age makes me self-conscious. Because I’m not faking it. My joint issues are very real. However, I also know that most people around me may doubt that due to my youthfulness.

3) Bullying over features of my appearance that are due to my condition.

Due to the fact that Stickler syndrome is an extremely rare disease and an invisible illness, most people who look at me wouldn’t know I have it. However, because of that, it caused a lot of unwarranted comments about my appearance. For example, I have a pretty bad underbite that I’ll eventually need surgery to fix. I can’t tell you how many kids asked, “Why does your mouth look like that? Why is your bottom lip so big?” Let’s just say, enough people asked questions about it to make me self-conscious to the point where I don’t know how to relax my jaw anymore. I subconsciously make sure my lips are lined up at all times because, to this day, I’m still extremely self-conscious about my appearance.

4) The constant “Are you OK?”s

I can’t tell you how often people ask me if I’m OK just for existing. As I said, people who look at me don’t know I have Stickler syndrome, so it creates a lot of instances of, “Are you OK?” Whether it’s due to my extremely heavy breathing, constant cracking of my joints when I move or being unable to hear certain things that most other people can hear, I get asked the question a lot. I’m fine. I just have this super rare condition that no one has ever heard of. But instead of explaining all that, I simply stick with, “Yeah. I’m just a heavy breather,” or, “Yeah. I just have loose joints.” If only they knew…

5) Silently dealing with the symptoms no one knows about.

There are some things I need to deal with that most people in my life have no idea about, just because I present as “normal.” For example, while others at my work can wear their glasses, I need to wear contacts every day because if my glasses get knocked off during a crisis situation, it would put everyone in danger. If it means anything to you, I have a -12.50 prescription, which basically just means that my vision is extremely near-sighted. If I want to see something clearly without glasses on, it needs to be a few inches away from my face. If my glasses were to be knocked off during a crisis situation, I wouldn’t be able to participate in crisis management and my glasses would likely break from me stepping on them due to me being unable to see them since they would not be right in front of me. So, even though I would very much prefer to wear glasses at work, it’s not really an option.

6) The isolation that comes with being the only one you’ve met to have your rare disease.

While I follow chronic illness groups on The Mighty, I’ve never read an article about Stickler syndrome. In fact, I’ve never even met someone who also has Stickler syndrome outside my immediate family. This can be a pretty isolating experience and it can make it feel like I’m the only one who deals with the symptoms I deal with. It can make me feel like I don’t quite fit in anywhere, too. My illness is chronic, but people in the chronic illness community have never heard of it, so it often feels like they won’t really care about what I have to say. Additionally, I look like a normal person since Stickler syndrome is an invisible illness, but I don’t quite fit in with “normal” people my age either. I can’t go on long hikes, nor can I jog or go for a run without being in extreme pain the next day.

And let me make it clear: I don’t want special treatment for my rare disease. I don’t want sympathy or “Wow, that sounds so hard…” I’m a normal person who can do most normal things. I just have a lot more obstacles than the average person does.

So, to others dealing with a rare disease of their own, know that I see you. I feel your frustrations and you’re not alone — even though it might feel like it sometimes. We’re in this together — hidden obstacles in all.

Take care of yourself out there.

Getty image by Alexei Veprev.

Originally published: May 16, 2021
Want more of The Mighty?
You can find even more stories on our Home page. There, you’ll also find thoughts and questions by our community.
Take Me Home