Today Is Rare Disease Day!

Today (February 28th)  Is Rare Disease Day!

Do you want to know a few things that made me jealous this week?

1. Watching people shovel snow out of their driveway.

2. Seeing someone sand down a door on TV.

Really, I’m not kidding! I know that these things may not seem like the most glamorous things to be jealous about, but if I COULD do them- I would be beyond excited about it. I have a condition called Hypermobile Ehlers-Danlos Syndrome, a rare disorder that causes pain and looseness in just about every joint in my body. Though I’m only 22 years old, I already struggle with arthritis, chronic pain, and so much more. I often wonder what it’s like to live in a body that can sew, knit, exercise, walk, write, and sleep without pain. I wonder what it would be like to wake up refreshed in the morning, or to eat without having to worry about whether or not something would make me sick.

But even though being disabled is a huge challenge, I can’t help but realize how lucky I am. So many people with rare diseases like mine go years without being diagnosed and are often left untreated and wondering if their problems are all in their head. In medical school, doctors are told that “If you hear hoofprints, think horses, not zebras”. Meaning that if a patient is presenting with a set of symptoms, you should assume that it is caused by the most common condition possible. But what if that Horse has stripes? And what if it really is a zebra? Though the Zebra is a mascot specifically for Ehlers-Danlos Syndrome, I believe that this analogy can apply to anyone who is living with a rare disease. For the 25-30 million Americans with rare diseases, we are falling through the cracks of a system that is designed to ignore us.

Thankfully, at the age of 16, I met a family that had Ehlers Danlos syndrome and recognized my stripes for what they are. They saved me from years of fighting the medical system, and walked me through the complex process of getting diagnosed with and treated for EDS. Finally, years of joint pain, fatigue, headaches, digestion problems, dizziness, and more started to make sense- and I was able to find relief! Many people will spend over 10 years in the medical system before being diagnosed with this condition but, thanks to this family – it only took me one.

Even though I knew what was wrong with me early on, my journey has been anything but easy. Almost all of the treatments for my condition are off-label, and based off of doctor’s and patient’s experiences rather than solid, research-based evidence. Most doctors are so uneducated about Ehlers-Danlos Syndrome that they think it’s impossible that I could have it, and question or even try to take away my diagnosis. They are unaware of the many comorbidities that come with EDS, and I am usually on my own in figuring out what is wrong with me and finding doctors that are willing to help.

That’s why awareness for rare diseases is so important! All 25 million Americans who struggle with these conditions need better awareness and help from the medical community. That’s why I choose to be vocal about my struggles with Hypermobile Ehlers- Danlos Syndrome, Postural Orthostatic Tachycardia Syndrome, and Mast Cell Activation Disorder (Phew-are you exhausted after reading all of that? Because I sure am!). Since sharing my story, I’ve already been able to help people in my circle of friends learn about problems that they never even knew they had and put them on the path to getting the help they need. But it’s not enough. There is so much more work that needs to be done!

Does you or a loved one struggle from a rare disease? Please, share your story in the comments below and donate to a foundation dedicated to helping people with that disease! Also, consider donating to the Ehlers-Danlos Society or Dysautonomia International as well. There is still so much to learn about Ehlers-Danlos Syndrome, and your donations would make a huge impact in the lives of people like mine.

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