Ehlers Danlos & Being Rare

What is Ehlers-Danlos? Don’t worry – we’ll get to that.

First – Has this ever happened to you? Last week I established care with a new primary care physician here in Columbus. We couldn’t finish everything that we needed to do in one appointment, so we had to schedule a follow up for less than a month later. The last thing he said to me was, “wow, you’ve got a lot of medical history for someone your age.”

Trust me sir, I know.

I’ve grown to hate doctor’s appointments, and really want to know why – at every single appointment – I need to verify my laundry list of medications? Especially when I’m usually met with a questioning glance from a nurse who says, “are you sure allllllll of these are current prescriptions?” Yes Janet, I’m sure.

I also hate the fact that all the pharmacists and pharmacy technicians at my CVS know my name, and don’t even have to ask my birthdate anymore. But, I mean, Cinco de Mayo isn’t too hard to remember.

Being 23 and living with a rare genetic condition often seems extremely contradictory to me. And I can’t say that I haven’t held a lot of resentment about that, because I have. I get frustrated that sometimes I’m too tired, or my body is in too much pain to go out on a Friday night with everyone else my age. I get embarrassed when I can’t do things other people can in the gym and that I start basically keeling over because of heart and lung problems. And it’s been hard having to realize that I don’t relate to many people in my own age cohort.

My mom has always joked that when I was a little kid I was like a forty-year-old in a toddler’s body. Ironically, today I feel like a twenty-three-year-old in a sixty-year old’s body, so that tracks well. (Moms are always right. Call your mom.)

What does Ehlers Danlos look like?

You’ve probably never heard of it. Most doctors haven’t either. But I have a connective tissue disorder called Ehlers-Danlos Syndrome, hyper-mobility type (hEDS), that is caused by genetic defects in collagen. hEDS affects approximately one in every 10,000 – 20,000 people. What is even more exciting is that my mom and I have a novel gene mutation that has never been seen before for this classification.

So, we’re one-of-a-kind mutants. (Marvel, DC, where’s my movie?) For those with EDS, or who have other rare diseases, that means that we had to fight all the harder to get the diagnosis – a common issue experienced by many living with the condition. An issue that makes it all the more difficult to get the care needed to manage the many symptoms of EDS.

Here’s a couple of symptoms of hEDS that I experience. Unfortunately, this list isn’t exhaustive.

  • Joint hypermobility affecting large and small joints (the funniest thing that has ever happened to me was having to go to the ER for a dislocated pinky toe)
  • Frequent joint dislocations and subluxations (as a result I’ve had three knee surgeries)
  • Soft, smooth skin which easily rips, tears, bruises, and scars
  • Chronic muscle and bone pain
  • Early onset osteoarthritis
  • Osteopenia
  • Gastrointestinal issues
  • Dysfunction of the autonomic nervous system
  • Dysmenorrhea and dyspareunia
  • Acrocynaosis
  • Insomnia
  • Arrhythmia
  • Intermittent migraines
  • Gingivitis
  • Scoliosis
  • Postural orthostatic tacchycardia

Being classified as a rare disease, there isn’t much awareness around EDS. And like I said earlier, many doctors are unaware of the pathology. This makes treatment hard. Instead of a holistic approach, those with EDS often must see several different specialists to treat the symptoms – not the root cause. This can be extremely frustrating in a health care system that doesn’t do a great job communicating across specialties.

My Journey

I found out that I had hEDS when I was eighteen, after my second knee surgery. And for awhile I felt like my body was working against me. I had been dancing since I was five years old, and my dream was to move to California to become a professional dancer. I wanted to be on So You Think You Can Dance, and then hoped to tour with a musician or land a gig on Broadway.

Image of dancer with text that reads "Born this way? do tell." Hypermobility is a major advantage when dancers first take to the barre. For many, this is a gift. For others, hyper mobile joints are the beginning of a lifetime in pain.

So at eighteen, I was crushed. I felt defective, and being in competitive dance, I had fallen so far behind after my surgeries, that I couldn’t catch up to the rest of the girls my age – not to mention there were certain things that my body just wouldn’t allow me to do.

As I’ve gotten older, and went through my third surgery this time last year, my perspective has definitely changed. Now I see my body as incredible for having the ability to get back up time and time again. I began working with a personal trainer to learn how to weight lift, because I want to see what I am truly capable of. But it took me a really long time to get to this place.

And the battle isn’t over.

As I’m nearing my mid-twenties, my mind is starting to think about what’s next in life. I’ve always wanted to have a family. But I know that many with EDS struggle with infertility, and many have complications during birth. I also want to be able to be active with my children. For me that all means having a family sooner rather than later. And let me tell you, my body knows it – hello baby fever!

And in a time where people are getting married and having children later and later in life, here I am again feeling out of place with people my age.

But despite always feeling out of place, and occasionally being frustrated with my genetic makeup, I’ve learned a couple of great things being a mutant – things that I think all people would benefit from:

1. Be present.

I’ve come to really appreciate life and the time that I have with the people that I love the most. It’s painfully cliché, but you really never know what life is going to throw at you. Put down the phone, turn off the TV, don’t worry about taking pictures. Just soak it all in.

2. You have the power to choose your obligations.

Our most valuable commodity is time. Don’t spend it doing something that you don’t want to be doing. Don’t feel like hanging out one day, that’s okay! Be honest about it. Sometimes you just need to lay on the couch with no pants on eating ice cream out of the container.

3. Toxic people are toxic, no matter the relation.

Unhealthy relationships aren’t good for your physical health either. The ones I’ve experienced, actually make my pain worse. Either make less space for, or get out of toxic relationships. And that extends to family, too. If a relationship is unhealthy, it’s unhealthy. Period. Don’t feel guilty about needing to set boundaries, most likely your guilt doesn’t fit the facts. (See number two)

4. You are stronger than you think you are.

Sometimes things feel and sound like the end of the world. But they aren’t. So many times I thought that I was done dancing, but every time I have found a way to keep it a part of my life. I just needed to expand my understanding of what dance was and my understanding of what I was capable of.

Image of girl pulling the skin on her face that read: Ehlers Danlos means we are fragile but unbreakable.

5. Humility can move mountains in relationships.

When you’re 23 years old and your mother has to help you shower after surgery, this is what you learn. Being able to ask for help and being able to admit when you are wrong is not easy. But doing so builds connection based on shared humanity.


I must be getting better at this, five points is a more presentable number than the 9 tips I gave in my blog post two weeks ago. Thanks for noticing.  

All of this is to say that today, I wouldn’t trade my lengthy medical history for anything. It has made me into the person I am today, and taught me to take control of my life. It doesn’t define me, but it lifts me up and pushes me forward.

Illustration of a photo of Diana Muzina, with a shadow made of zebra stripes.

The official mascot for rare diseases is the zebra. And today I can say that I am proud of my stripes.

Help me to raise awareness by sharing this blog post and tagging #EDSAwareness.

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