Ehlers-Danlos Syndrome – The Tip of the Iceberg

[featured image thanks to Kara O’Keefe (instagram: @karaokeefe)]

Though I’ve been living with this condition unknowingly my whole life, it was 5 years ago, during my first year of university, that this illness finally made me take pause, that it started to change my life completely. When this happened, I was in my first year of university. At the end of the summer after graduating high school, I made the big move from New Brunswick to Newfoundland to pursue my dreams of studying neuroscience in the beautiful city of St. John’s. Bright eyed and bushy tailed, I hopped on a plane, ready for the new life and experiences that would come along with my undergraduate years. I knew that I would learn a lot during that year but what I learned was so much different than I expected: I had to learn all about a disease that has been ravishing my body for years and will continue to.

My best friend from MUN, Erin, and I posing in front of my residence building. Notice the iceberg in the Memorial University logo 🙂 [April 2015]

My story and symptoms were complicated, a massive jigsaw puzzle of random things that seemed to not fit together. But that’s the funny thing about connective tissue disorders, they truly affect every part of the body. I’ve heard the saying used before: if you can’t connect the issues, think connective tissues. However, the complexity of these disorders are generally not understood by the people we rely to treat them. Trying to find a diagnosis that encompasses all the weird and wonderful symptoms I was experiencing was like trying to put together a puzzle without knowing what picture you were trying to make. You have all the pieces, you may be able to start to connect them, but wether or not you’re heading in the right direction, building the right picture, is completely unknown.

Eventually, I ended up in Halifax, in the waiting room of a geneticists office at the IWK children’s hospital. I won’t get into the whole long story since I have already told it but, if you want to read about it, I’ll link to the blog post here. I like to think of my geneticist of like the kind version of Dr. House, a solver of many problems. When my name was called by the genetic counselor to go into my appointment, we walked in with a great mix of feelings, ranging from anxiety, fear, and stress, to hopefulness. When we walked back out of the room 4 hours later, there was a new spring in our step, a weight lifted off our shoulders. No, the news we received wasn’t good news but it was an answer, it was hope. We had a name to put to all my problems: Ehlers-Danlos Syndrome. My geneticist gave me a diagnosis that would affect me for the rest of my life but he also gave us the picture to finish putting together the jigsaw puzzle of my health.

Sitting in the lobby of the IWK after seeing my geneticist for the second time. [November 2016]

One of the biggest issues in reaching this point was a lack of knowledge surrounding my condition. Generally, when I tell a doctor about having Ehlers-Danlos Syndrome, I get one of a few response: 1) silence, because they’re racking their brain, trying to remember if they even covered this is medical school, 2) that they’ve heard of it but know little about it, and lastly, my personal favourite, 3) that they are truly well educated on it and understand the complexities. Of course I love getting the last response because it saves me the effort of explaining how my stomach that sucks at digesting is connected to my seemingly random allergic reactions and to the fact I need a wheelchair to get around. However, most simply associate Ehlers-Danlos solely with hypermobility, a very small part of a big picture.

A few examples of hypermobility in the joints of my hands. [May 2016]

To understand all the odd things my body was doing, you need to understand a bit of how EDS works. Basically, it’s a disease caused by a mutation in one of the collagen genes in my body. Collagen, a connective tissue, works to your whole body together. Every time you move, your heart pumps blood through your veins, your stomach digests a delicious meal, that you’re able to stand up, thank your connective tissue. Like glue, collagen holds together, all your joints and organs and blood vessels and, well, basically everything. But, because our collagen is mutated, it is weak. Like healthy collagen, it can be stretched but, unlike healthy collagen, it doesn’t spring back into shape when you release the stretch. It is all loose and floppy, not holding things together properly. Hence, why so many people know EDS as hypermobility, because our joints are loose and stretchy, just like our collagen. But what you see on the outside isn’t the full picture.

EDS is classified as a systemic condition, meaning the whole body is affected. What this means for me is several things. It means that, every single day, I dislocate or subluxate (partial dislocations) my joints at least 20 times, usually more, leaving me reliant on a wheelchair since my joints in my legs can no longer support my body, I can no longer stand yet alone walk. It means that my stomach and intestines no longer digest properly, leaving me reliant on a central line for IV nutrition (called TPN). Instead of the food being pushed through my digestive tract like normal, food just sits there since my organs don’t have the strength to digest it and, often, it comes back out the wrong way. It means that my mast cells, these little cells that live in your body within connective tissues and release substances like histamine when allergens are present, they erupt and cause random allergic type reactions due to the collagen not supporting them properly. It means my vascular system not working properly, my heart valves prolapsing and blood not moving through my body correctly because of my vessels being too stretchy. It means my autonomic nervous system being out of control, causing dizziness, fevers, nausea, heat intolerance, always being freezing cold (or, less often, way to hot), and passing out just from doing small things like bending over. It means a life that looks completely different that the life I had imagined I’d be living at 22 years old.

River (my service dog in training) and I showing off all of his zebra print gear for EDS awareness month which is represented by the zebra print ribbon. [May 2019]

When I lived in Newfoundland, a place I miss every day and still think of as one of my homes, I hoped so badly to see an iceberg, something Newfoundland is well known for, but exams always ended right before iceberg season started. However, I think icebergs are a perfect analogy for Ehlers-Danlos. Why? Because the part of the iceberg you see floating above the water, though it may look huge and mountainous, if you could see the whole thing, you’d be shocked. The tip of the iceberg, the part you see, is only 10% of the whole thing, a small piece of a big story. This is what makes them so especially dangerous, because people underestimate them and their abilities. Icebergs are bigger and badder than what you see at the surface and so is EDS.

Iceberg photo courtesy of Adam Hefferman (instagram: @adamhefferman)

When you look at me, you only see the tip of the iceberg. You may see the hypermobility of my joints, my soft and stretchy skin, my wheelchair and service dog, and sometimes maybe even the tubes coming out of my chest, stomach and intestine but that’s only a small part of it all. You can’t see the organs struggling, the muscles wasting, the joints wobbling and becoming misplaced, the bladder that takes an hour to empty, the malnutrition, all the “invisible” pathologies that plague my everyday experiences. You can’t see the other 90% of my iceberg. 

I can’t speak for everyone with EDS because our experiences are all vastly different. Some people live a fairly “normal” healthy life and some live on disability like I do so, when reading, keep in mind that this is my experience and mine only. But, next time you see someone and judgement passes through your mind, remember you can’t judge the size of the iceberg based off of the size of the tip, you can’t judge the size of the challenge someone is facing when you only can see a small part of it. Offer people some grace, we’re all so much more deep and complex than 10% can show, than a label can represent. We are so much more.

“My” iceberg, representing some of the things going on under the surface that are caused by my defective collagen. [May 2019]
Me at my favourite place, the beach. [August 2018]
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3 thoughts on “Ehlers-Danlos Syndrome – The Tip of the Iceberg

  1. jack.nielsen@rogers.com says:

    Kathleen. I have said it time and time again, your writing talents are noteworthy. You should write a book. Love Jack & Bette. Give your Mom and sister a hug from us. Oh yeah and a handshake to your Dad.

    Like

  2. Clarenda Price says:

    Kathleen you are a brave, beautiful and smart young woman! I learned some about this disease from your mom last w/e and could see her heart and love for you so clearly. You truly are an amazing warrior just like your momma! You have a gift in your writing. You drew me in. I felt compassion and empowerment. You explained everything clearer than I ever could as a nurse. You are living it. You are the one experiencing it and you have a purpose to fulfil. Thank you so much for sharing, increasing awareness and I’m sure will be encouraging many!! xxx

    Like

  3. Joan Lawrence says:

    Kathleen, my words are inadequate to express how your words impact your followers. You have such a way of explaining, not complaining, sharing in a way that reaches my heart. Grammy Betty keeps me updated on you and your Mother. Best wishes and enjoy your new “ride”./Joan Lawrence

    Like

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