Show Your Stripes for Rare Disease Day! – Guest Post

11016369_10205031264693934_216013319_nIn 2012, Yvonne Evans interviewed a woman from Kinsale about her disease, Ehlers Danlos Syndrome (EDS). Little did she know that the answers she has been searching for about her own illness had landed right on her lap.

There is an old saying within the medical profession: ‘When you hear hoof beats, think of horses, not zebras’. Dr Woodward, an American professor at the University of Maryland would instruct his medical interns to practice as the phrase suggests. You see, horses are common in Maryland, while zebras would have been relatively rare during the 1940s. So, one would assume that, upon hearing the sound of trotting hooves, that a horse would be the most likely explanation. I however, am a zebra.

11039423_10205031264493929_1594412320_nMy symptoms started as a child but and really got bad by the time I was 14. Gradually, my knees began to hurt, especially when it was cold. By 16, it was unbearable. A few years later, the pain spread to my hips and ankles. The joints began to make popping and clicking noises. Frustratingly, blood tests for arthritis and x-rays all came up clear. Then I began to have problems with my stomach and experiencing fatigue. In college, I was vomiting almost everyday for a year and napped frequently. The fatigue hasn’t stopped to this day.

A colonoscopy and endoscopy came up clear but my GP said it was irritable bowel syndrome. Some days, my abdomen swells so much that I look pregnant. After my son was born, five years ago, I had no choice but to fight the fatigue. I am not anaemic, but as the months have turned into years, the tiredness has become overwhelming. The smallest of chores around the house are exhausting for me. Some days, I don’t even have the energy to get dressed and face the world.

People commented on this and called me lazy. Without a diagnosis, I couldn’t give them a credible answer as to why I was sitting in my pajamas in the middle of the afternoon. Of course, I did have my good days, especially during the summer when the weather was warm and my joints didn’t hurt as much. But, while my joints were feeling ok, I was feeling dizzy and faint, more fatigued and irritable. Cold hurt me, heat made me faint, there was no relief.

For the past two years, the joint pain has spread to affect my hands and wrists, my back and neck too. If I move a certain way, a joint may slide out and back in again.

But things changed for me in 2012 when I interviewed a young woman who had connective tissue disorder called Ehlers Danlos Syndrome (EDS). When she explained her symptoms, I wondered did I have something similar? I thought no more of it, and we kept in touch. In the meantime I was put on a public waiting list to see a rheumatologist. But then, one day in 2013, I was speaking on the phone and then everything started to go black; I felt hot, my heart was racing, I felt weak. I ran to the bathroom to lie down on the cool floor. This gave me such a fright that I decided I wasn’t prepared to wait two years to see a public consultant. I had to know what was wrong with me. I was going to get answers.

I organised a private appointment with a physiotherapist who confirmed that I was hypermobile. The pieces of the puzzle were coming together. Then I arranged an appointment with a rheumatologist in Cork, with an interest in EDS and Hypermobility Syndrome. Two weeks later, the doctor confirmed that I had Hypermobility Ehlers Danlos Syndrome. I was also diagnosed with Dysautonomia but unfortunately; I am still awaiting a proper diagnosis and treatment for that.

There is a good chance I will need to travel to London for autonomic testing. I cried with relief that finally, I could put a name to what I had. After a decade of tests and scans I had taken the reins myself and finally got my diagnosis with just two appointments.

The majority of doctors in Ireland are unfamiliar with EDS and there are no specialists available here in Ireland. If there were more awareness and training, I may have been diagnosed much earlier in my life. I was on a high the day I got my diagnosis, but the next I had to face the harsh reality that I have a rare, lifelong and progressive disease. Luckily, my EDS is quite mild in comparison to many of my peers and hopefully more awareness will mean better treatment for me, and my fellow zebras in years to come.

The biggest help for me through all of this has been the ‘EDS Awareness Ireland Support Group‘ and ‘Irish Dysautonomia Awareness’ on Facebook and speaking to other people with EDS and the secondary conditions that go with it. Both groups are enormously supportive and concerned. Many of them have EDS and Dysautonomia that affects them so much they are in and out of hospital. Yet, everybody is equal in the group and no matter how trivial I thought my problems were in comparison, the support has been immense.

Hopefully, together, we can raise awareness about this debilitating disease and bring about an improvement in the services available. For more information about Ehlers Danlos Syndrome, go to ‘EDS Awareness Ireland,’ on Facebook. Please also give ‘Irish Dysautonomia Awareness’ your support and like them on Facebook too. 😉

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