I’ve been thinking about this post for a while. Written it out (in my head) a few times. But every time, I decided that some things were better left unsaid. Rationalized that my personal life should remain private. Or that by being honest about what’s going on, people would look at me differently – either think of me as “the sick girl” or the girl that always ends up over-sharing about her latest dramatic situation.
The longer I’ve thought about it, the more it’s had a power over me… Making me feel like I should be ashamed for things that are out of my control. Here’s what I’ve come to realize though… My struggles don’t define me. What does is how I choose to respond to them.
I choose to be brave and face my challenges head on, with as much strength and courage as I can muster. I choose to be an example to my children of someone that’s faced adversity and overcome it. I choose to not let my struggles define me. I choose to find the silver lining in every situation. I choose to believe in hope and grace and the power of positivity.
Last fall, I was diagnosed with a genetic hereditary connective tissue disorder called Ehlers Danlos Syndrome. When the doctors told me, I was shocked because I’d never heard of it, but then it all started to make sense. I was always the “bendy kid” as a child and was nicknamed “Worm Woman” in gymnastics. My brother made me do circus tricks to scare other kids, but it never hurt and I didn’t mind. As I grew older, I started having seemingly unrelated unusual health issues. None of it made sense, but I started to realize it had to somehow be connected.
When I was diagnosed with celiac disease, I thought that was the magic bullet. Everything would get better! All I had to do was change my diet. That was easy, right?
Things got better for a while, but then they started to get much worse. Finally, I ended up at the Mayo Clinic and doctors started sorting it all out. It’s been nine intense months of visits, tests and surgical procedures, but I can finally say I’m going to be ok.
- What on earth is Ehlers-Danlos?
NIH summarizes it nicely, so I’ll let them explain:
“Ehlers-Danlos syndrome (EDS) is a group of hereditary connective tissue disorders characterized by defects of the major structural protein in the body (collagen). Collagen, a tough, fibrous protein, plays an essential role in holding together, strengthening, and providing elasticity to bodily cells and tissues. Due to defects of collagen, primary EDS symptoms and findings include abnormally flexible, loose joints (articular hypermobility) that may easily become dislocated; unusually loose, thin, stretchy (elastic) skin; and excessive fragility of the skin, blood vessels, and other bodily tissues and membranes. “
- What’s the incidence of EDS?
Estimates vary, but NIH says that the form I have occurs in approximately 1 in 15,000 people.
The geneticist believes I have hypermobile EDS (hEDS), but they didn’t bother running more tests to differentiate between hEDS and classic EDS because they said it “doesn’t make a difference in the course of treatment.” I’ve had a full heart work-up and am seen regularly by a large team of specialists working together.
- So, does this just mean you’re bendy?
Not at all. Hypermobility is far more common and can still cause pain and joint issues. hEDS, on the other hand, is a systemic defect that not only causes joint issues but a wide variety of other issues. Collagen is throughout your entire body, so pretty much anything with collagen in it can get messed up.
- What kind of other issues does it cause?
The list is lengthy and I’m still learning about things I have to watch out for. I try to not focus on the “could have’s” and focus on dealing with improving the current state of my own health.
- Ok, I’m curious what kind of complications you’ve had…
I’ve had so many fractures and dislocations I’ve lost track, as well as dental issues, neurological issues, pregnancy complications, autonomic dysfunction (POTS), skin issues and freaky allergic reactions. I could go on about all the related complications I’ve had, but the most dramatic has been a series of spontaneous spinal fluid leaks that very quickly progressed into taking away much of my functioning very quickly.
- Wait, what? Your spine leaked? Was it from a lumbar puncture? Didn’t that hurt? How did you still function?
Yes, it did hurt and no it wasn’t caused from a lumbar puncture. I had two spontaneous leaks in different places along my spine, due to a weakened dura around the spinal cord (due to EDS). The leaking fluid caused intracranial hypotension and my brain to sag, pushing on nerve bundles. (If you’re interested in how all that works, you can read this and this.)
I’d had the leaks at least nine months, maybe more, by the time a sharp neurologist tracked it down. By then, I was having Parkinsonism and stroke-like symptoms associated with increased time upright. My vision would become blurred, I had difficulty speaking, and I would have pain so severe it felt someone was stabbing me in the head (as bad as the worst migraine ever). The symptoms were always worse in the late afternoon, so I’d head into work early and go to bed as soon as I got home. I got to the point where I was having incapacitating neck and head pain (comparable to childbirth) more days than not and had taken to minimizing and trying to hide the symptoms.
Funny story: I (intentionally) failed to mention to the neurologist some of my symptoms, including a persistent tremor and reflex issues (foot drop) because I didn’t want to be the girl with “all the issues.” The joke was on me because he picked up on both within 5 minutes. It’s funny because a) he picked up on it and b) cured it.
- How did you figure out what was going on?
The internist at Mayo asked me when I’d been diagnosed with EDS within 10 minutes of meeting me. I’d never heard of it before and was very confused… Then the savvy neurologist from Mayo pieced together the CSF leaks. After all the fancy tests I’d had, all he had to do was put me on a table and tip me backwards. Well, that and seven MRI’s and no less than 40 other highly-specialized physicians before I even got to him…
We think so! Just over two weeks ago, I had a high-volume epidural blood patch and within 24 hours I felt like a new person. I have to continue to take it easy to let it heal, but after everything I’ve been through I’m fine with that!
- Can a CSF leak happen again?
Unfortunately, yes. They fixed a symptom, not the cause. There’s nothing I can do to prevent it, but the good thing is I’ll realize what’s happening sooner next time.
- What’s the incidence of a spontaneous CSF leak?
The incidence of a spontaneous CSF leak is 5:100,000 but the likelihood is much higher within the EDS population. CSF leaks are typically from trauma or spinal procedures.
Interestingly, I learned that George Clooney suffered a CSF leak from a traumatic cause and has talked about it with the media. (Which you can read about here.)
This quote from the article basically sums up where I am in life:
- So, EDS = 1:15,000 and spontaneous leaks = 5:100,000. How did both things happen to you? Statistically, that doesn’t seem very likely.
I know – crazy, right? Math is fun, so let’s break this down.
EDS = 1:15,000 = 0.0067% of people
Spontaneous CSF leaks = 5:100,000 = 0.005% of people
Common sense (and conditional probability) says it’s more likely for my dog to hop off this couch and turn into a flying unicorn than for one person to have both conditions. However, it doesn’t work that way because the two are linked. David Hand describes this in detail in his book “The Improbability Principle”, but if you want the cliff-notes version then I highly recommend this podcast.
- Is this what you happened to you this past fall when you were all cryptic about something happening?
Nope. Last August I found out (the hard way) that I had a life-threatening allergy to iodinated IV contrast. It jacked up my heart and autonomic nervous system and caused all sorts of weird things to happen. Fortunately, I was at the Mayo Clinic when it happened and they were able to figure it out. I’m doing much better now, but I ended up getting my driver’s license medically restricted as a result. Treating the CSF leaks have helped with the autonomic issues though, so hopefully I’ll get a full license back soon!
- Wow, that’s intense. So, what now? Will you get worse?
There’s no cure for EDS and I’ve been told I’ll never get any better than I am today. All I can do is manage the symptoms, remain positive and find the right balance of exercise, physical therapy, nutrition and medicines to help manage the symptoms.
- Did all this happen suddenly?
I was born with EDS, but the more serious symptoms seem to have progressed more recently. There are three main phases of a person’s life with EDS– flexibility, pain and then stiffness. I’m in the pain phase, which is as fun as it sounds. I have chronic pain from widespread musculoskeletal issues and am learning how to manage it and stay on top of it. Some days it’s better and some days it’s worse. But I don’t let that keep me from having a smile on my face (most of the time.)
Honestly, I’ve been lucky that the most severe symptoms I’ve suffered have taken this long. Part of my issues are related to the fact I’ve been so active throughout my life and participating in activities like competitive gymnastics caused me to unknowingly accelerate the progression of EDS complications.
- You mentioned an allergic reaction. How’s that related?
Mast cell dysfunction is relatively common in people with EDS. My understanding of it is that your body goes haywire and can have crazy allergic reactions. What happened to me last fall is a good example.
- Is there a link to food allergies?
There’s a link, but EDS is a rare disease so there just isn’t enough data on it. EDS is most commonly linked to eosinophilic esophagitis and mast cell dysfunction. (Read more here.)
- Is there a link to celiac disease?
Strangely, yes. Researchers have found a significant percentage of EDS patients have celiac disease, but aren’t sure why.
- Since it’s a genetic thing, does that mean your kids have it?
Good question. The form of EDS I have is autosomal dominant, so each child has an independent 50% probability of having it. One of my children has been cleared by a geneticist and the other one is not yet old enough to be assessed for EDS. So, I guess the answer is “hopefully not, but we’ll see.” It may or may not be related, but his allergies have been significantly better since he was started on a mast-cell stabilizer (Singulair.) We will continue to pray that he’s not affected by EDS, but if he is then at least we’ll know how to deal with it.
- If they do have it, does that mean they’ll have as many complications?
Absolutely not. While the types of EDS don’t change within families, the severity of complications do. One person can be mildly affected and the next end up permanently disabled. It just depends.
Honestly, I’m doing great. More than anything, I’m grateful for finding a healthcare team that refused to stop searching for answers and for a family that’s been wildly supportive.
Physically, I still struggle. But I have simultaneously decided to not let that stop me (as much as is feasible) and come to terms with that I will never get completely better.
Emotionally, I’m ok. I’ve lashed out in anger a few times (always related to something getting between me and my need for sleep), and am working through the guilt I have for not being “normal.” (Such a silly thought!)
What I have learned is that there are many things that I will never have control over. What I can control is my outlook and how I respond. I have decided to do everything possible to stay healthy and live a healthy life so I can be a better mom for my kids. (And also so I can get back to surfing soon.)
- Why are you telling us all this?
First of all, I’ve had a lot of people ask. Secondly, I’ve had multiple healthcare professionals tell me I should start sharing (I think because the “weird cases” are entertaining to them.)
Mainly though, it’s because I’m sick of trying to hide it. It’s complicated and I’ve had to make major life changes as a result. We all face struggles. We all have pain. We all have moments that knock us down and take our breath away. But these things are not what define us. They are not what define me. I may bend, but I will not break.
For more info on EDS (and to contribute to researching this rare disease) please visit the Ehlers Danlos Society.