The story of Katherine
Rare disease day is February 29. It’s a “rare” day dedicated to bringing information about rare diseases to light. I don’t post about it a ton on Facebook, but my girls and I have a rare disease.
We have a genetic disorder called Ehlers-Danlos syndrome-or EDS. It’s a connective tissue disorder. Our bodies don’t make collagen correctly. Ours is too stretchy and doesn’t function properly. One of the genes in our DNA has a G instead of an A. It doesn’t seem like it would make a huge difference. But imagine do you baked a cake and used all salt instead of sugar. They’re both similar white crystalline substances used in barking. But it makes a HUGE difference which one is used.
People think having EDS just makes you super bendy. And that sounds pretty cool. Right? Except when you realize that messed-up collagen doesn’t make you just bendy or stretchy.
Collagen is in your skin, your joints, your tendons, your organs, your interstitial tissues (the stuff that’s between all that) and your blood vessels. Collagen is even a clotting factor in your blood.
So it’s not just your joints that are not right. EDS causes easy bruising, easy scarring, easy bleeding, joint pain, joint instability (meaning they are not strong and pop out of place or dislocate frequently and easily). These and additional issues like brain fog, anesthesia intolerance (it doesn’t work very well for many of us), autonomic disregulation (your body can’t regulate things like your temperature or blood pressure very well), dizziness, migraines, overactive immune systems that cause weird allergies/rashes (but not ALL the time and sometimes to stuff you’ve never been allergic to before),
GI issues, cardiac, vascular and blood pressure issues. The list goes on and on. Oh and the subtype of EDS we have? It affects the teeth. So add mouth sores and severe gum bleeding and teeth that can be too loose that can fall out for no good reason. Nightmares anyone?
The best analogy I give people is a new rubber band. When it’s new, it’s nice and stretchy and holds things tightly and perfectly. But returns to its original size when you’re done. It works properly in every situation every time. It’s helpful and functional.
As it gets older, it gets overstretched. It starts not working as well. It’s functional in some situations, but not in others. You might need to mess with things or change your design or plans to make it work ok. Eventually, it may not even work or be functional at all.
Everyone else’s body starts out as the new rubber band. Ours started out as the old rubber band.
You can’t see cancer or diabetes or heart disease, but they are real and they suck.
You can’t SEE EDS. But it’s there. And it sucks too.
EDS is always there. Sometimes it affects you a lot. Sometimes you barely notice it and it doesn’t hold you back. But it’s there, just waiting.
LOTS of people think “Well, it can’t be that bad ALL the time.” For some people it is. For some people, it’s not. So a LOT of EDS patients get accused of being lazy, or over-exaggerating, or worst of all, being fakers altogether.
Several celebrities like models, singers and actresses have come out lately about their EDS diagnosis. Some have been embraced. Some have been ridiculed. And some have been called outright liars.
But genetics don’t lie.
I try to educate people about EDS, but it can be hard. It’s a complicated, confusing disease. And it’s rare. People have not heard about it. Even a lot of doctors don’t know much about it. Often times, EDS patients may have more extensive knowledge about EDS than many medical providers (who have often received LESS than one day of education about EDS in medical school.)
Some people will believe you and embrace you and learn about EDS. Others won’t. Even close friends or family members may not. It hurts. And you can’t change that.
EDS IS complicated. A lot of the time, it’s not that bad. But sometimes it is.
When My daughter was diagnosed, it was like a lightbulb went on. All her symptoms suddenly made sense. I MADE SENSE. Thank God for a fantastic doctor, (who I am lucky enough to work for) who told me “You know your child. If you know something isn’t right, trust your instincts. Ask questions. No one knows your child better than you.”
It was a weird, tough journey. I wouldn’t wish it on people, but you learn things about yourself. How to advocate for yourself. To trust your instincts. To keep asking questions until someone has answers. And now I do.
I dislocate stuff ALL THE TIME. By doing crazy things like getting out of bed, reaching for a pen, stepping off the sidewalk, or running in the yard after my kids. (My pediatricians X-Ray tech knew me ON SIGHT as a child.)
I have a ton of joint pain all the time for no rhyme or reason. I own 2 thumb braces, a wrist brace, 2 knee braces, a leg brace (for both legs), a walking boot, a sling, a lumbar support belt/brace, crutches and more hot and cold packs than I can keep track of (and these are all from just the last 5-7 years and again I am NOT OLD). Stuff that might not injure other people could easily dislocate something or worse tear something, from a ligament to an organ. (PE is like a minefield for my kids.)
I get super debilitating migraines. I’ve passed out more times than I can count.
I’ve had dental work, multiple surgeries and two children and anesthesia sometimes works and other times IT DOES NOT. SUPER FUN game of pain/anesthesia roulette.
If I have stitches, they can tear out super easily and FOR SURE they will scar. And that scar is painful.
I’m bone-chillingly cold when it’s 75 degrees (cardigan anyone?).
I’m very intelligent, love to read and have a KILLER vocabulary, but some days my brain fog is so bad I can’t complete a proper sentence. (I can see the word I want to say in my head, picture the word itself, the item itself and not be able to make it come out of my mouth. ALL THE TIME. And again, I AM NOT OLD).
We could survive the zombie apocalypse from the amount of medications, first aid items, braces and snacks from my purse alone.
I have random GI issues because hey, stretchy organs are supposed to work properly “butt..”.
You never know where or when or why any or your symptoms might pop up. It’s super frustrating. And if you actually try to do something “intense” like a good work out or hiking or yard work or home repairs? You will be TOAST. FOR DAYS.
And my symptoms are MILD compared to many others with EDS.
Anywhoo.
So no, I don’t feel “sick” all the time or “look” sick all the time. But sometimes I am. I don’t need medication or braces all the time. But sometimes I do. It may look that like I’m sick, it may not. But that’s the way it is. I can’t change it. I just live with it.
It’s not about all the things I can’t do or shouldn’t do. I don’t have be swaddled in bubble wrap and live in a padded cell.
But I probably should not take up rugby, or skydiving. (I might take up chandelier swinging though…)
EDS is part of us. A big part of us, for sure. But it doesn’t define us. We just have to take our knowledge about our health and our bodies and modify our lives and activities to make them safe and work for us.
We are rare. We are Zebras. And we are dazzling!
For more information on Ehlers-Danlos
Syndrome please visit https://www.ehlers-danlos.com