Published: 24/03/2021

A tiger in a zebra’s body: coming to terms with my diagnosis

Denial: A tiger in a zebra’s body. 

“Have you in the last three months installed a shower rail?”  

I said, “No, but does a 6ft male count?” The nurse chuckled and said, “I’m being serious”, to which I said, “So am I”.

From the outside looking in, I am a 43-year-old British woman living the life in Queensland, Australia. I have a beautiful teenage daughter, a soon-to-be stepson (who is quite the cutie), a loving partner, a successful career and I have been blessed with flawless olive skin which means I look 10 years my junior, winning, right? 

Turns out the looking younger part is both a gift and a curse. 8 years ago, I experienced a minor albeit life-changing stroke whilst delivering a presentation at work. I say minor because I walked away with my life, the minor reference is typical of me – I refuse to go down without a fight. I get up and brush myself down, put a smile on my face, and just get on with it, there are people far worse off than me, right? I HAVE GOT THIS.

The reality is I didn’t get off lightly. I don’t remember some significant memories from my early life or those of my daughter as a baby, I still experience numbness in my left arm and struggle to structure my words, and experience slurred speech when I am tired. The stroke incident (as I refer to it) also marks the beginning of living life with a genetic condition.

A year after the stroke I experienced severe back pain, and a few hundred dollars later I was informed that I had multiple fractures (some old, some new) in my spine. They were concerned as to why and a bone density scan revealed that I had full-blown osteoporosis in my spine and hips at the ripe old age of 37. In parallel to this my daughter who was born with hip dysplasia and a funny foot (calcaneus cavus foot), was experiencing chronic pain, joint and sleep problems (also something I had struggled with all my life). Specialists had ruled out spina bifida and were leaning towards a classic/vascular EhlersDanlos syndrome (cEDS/vEDS) diagnosis and we were referred to a genetic specialist for further testing.

Two years after my stroke, my daughter and I were told that we both had a genetic condition known as EhlersDanlos syndrome (EDS). We have the classic variation which for us means that we have mutations in both our COL1A1 and COL5A1 genes, aka they are faulty.

Collagen is a family of proteins and plays a lead role in providing structure in the body; things like bone, ligaments, muscles, tendons, skin, and connective tissue. So here is the problem, my collagen COL1A1 and COL5A1 genes got the wrong manual, I wasn’t built properly, there is no new manual because this can’t be fixed, all my daughter and I can do is deal with each new diagnosis as it arises.

So what does this mean in real life? Well for me I now have the bones of an 86-year-old woman, I went through menopause at 40 which isn’t doing my bones any favors, I have been diagnosed with POTS which causes spikes in adrenaline and the risk of stroke/arterial rupture is ever-present. I have an army of specialists and allied health professionals who all work with me to deal with the realities of living with an aging body that wasn’t built properly.

I have been told the osteoporosis will get me first, I continue to lose vertebral height and have just been given an 18 month (once in a lifetime) daily injection bone-building treatment which will be supported by another 3 years of Aclasta. I am on HRT, I take sleep medication and medication to balance out my adrenaline spikes. I have a small gym in my garage where I spend close to 2 hours a day, I have to keep my heart and lungs healthy so I cycle for 1 hour per day followed by gentle strength training to try and build bone (sounds futile, when I don’t even have the right manual).

I get angry, but mostly I am trying to get the upper hand. My goal is to try and find what works and what doesn’t work for me in the hope that these insights give my daughter a bit of a heads up. This condition isn’t what defines me BUT I do need to start owning that EDS is part of who I am and stop hiding it. My mobility is and will be impacted, I am exhausted and in pain and there are things I just can’t do, there I said it!  

PS: no thanks on the shower rail, I will stick to the 6ft male. 

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