You have to learn to live with what you are

By Leanne, Vascular Ehlers Danlos Syndrome and Brittle Cornea Syndrome, Australia, February 26, 2018

Leanne James

I suffer from Vascular Ehlers Danlos Syndrome and Brittle Cornea Syndrome; two rare genetic connective tissue disorders affecting collagen integrity. Collagen is found in every cell in the body; it’s the glue that holds us together. I have literally spent the last 20 years falling apart.

I started becoming symptomatic with joint pain and fatigue in my late teens. It wasn’t until I was 23 that I experienced extreme pain in my neck which radiated down my right arm. Doctors put it down to an ‘overuse injury’ from data entry. However, I deteriorated quickly to the point where I could not work.

Over five years I was passed from specialist to specialist. None of them could pin point where my pain was coming from, so of course it must be all in my head! You guessed it, next stop was a psychiatrist. Finally, I met a doctor at a pain clinic who thought outside the box and diagnosed me with Thoracic Outlet Syndrome (nerve and artery compression near the neck). Subsequently I had my first rib and scalene muscles removed. The pain was only half alleviated and shoulder and wrist pain remained.

Doctors started taking me more seriously and after further scans I was found to have torn ligaments in my shoulder, radial nerve impingement in my forearm and a wrist joint that was 15mm subluxated (sitting out of joint). These injuries were consistent with trauma; the wrist surgeon even said that he had only seen an injury like mine from a high impact motorcycle accident. Yet I had done nothing traumatic. I didn’t even play sport! He found my whole ordeal very peculiar and had a closer look at the flexibility of my fingers. He opened google on his computer, completed a search and wrote down ‘Ehlers Danlos Syndrome’. He said, “go home and research this and see if it sounds like you and I will find out where the hell I send you to get diagnosed”. Surely enough, after a visit to a geneticist, I was diagnosed with classical Ehlers Danlos Syndrome (EDS).

This was 10 years ago. The diagnosis was purely from presentation and medical history as genetic testing wasn’t developed for EDS at this time. I don’t have a family history which happens in about 50% of cases. Unfortunately, the dodgy gene had mutated with me.

Between then and now, my body just kept falling apart. I have now undergone 20 joint surgeries. It wasn’t until a jaw reconstruction just six months ago that I experienced a life threatening complication on the operating table. An artery near my jaw broke in half from the slightest touch of the surgeon. He followed protocol and tried to clamp it to repair, but the clamp did not hold and took a section of my artery with it. My artery was so friable that he had great difficulty in even getting a stitch to hold. Eventually, after losing over half my blood volume, he stopped the bleeding, but I was left with an aneurysm. The surgeon was a world renowned professor and had never experienced anything like it in 40 years. I was referred back to a geneticist for yet another diagnosis.

Genetic testing is now available and I have a rarer form of Ehlers Danlos Syndrome , Vascular type, and Brittle Cornea Syndrome. A very rare overlap of rare connective tissue disorders that not only affect the joints but the eyes, heart and blood vessels as well. It can be fatal and greatly reduces my life expectancy due to spontaneous arterial dissections.

It took 20 years to get the correct diagnosis. If doctors had more awareness of EDS it could have been very easy to diagnose – simply checking the hypermobility of my joints would have led them down the correct path.

I can’t change what I have, I can’t change that my kids now have a 50% chance of inheriting EDS, but I can spread awareness so others don’t have to endure 20 years of chronic illness before being correctly diagnosed. The lack of awareness of EDS in the medical profession is astounding.

Receiving an early diagnosis, knowing what is wrong and accepting it are the most important factors in living with a rare illness. You have to learn to live with what you are.

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