Ehlers-Danlos Syndrome Awareness month: Rare condition has left Evie in pain for years

Ehlers-Danlos Syndrome Awareness month: Rare condition has left Evie in pain for years

Evie Nevin from Clonakilty, who has Ehlers-Danlos syndrome, a genetic connective tissue disorder. She is campaigning to have the HSE appoint a specialist to deal with the illness. Picture Denis Minihane

May is Ehlers-Danlos Syndrome (EDS) Awareness month and progress for people who suffer from the condition remains slow, according to Cork activist Evie Nevin 

Ms Nevin has been waiting almost four years to access pain relief for the condition which affects her hypermobility.

The West Cork woman was initially diagnosed with EDS, a genetic connective tissue disorder that causes the production of faulty collagen, in November 2013. Despite the best efforts of people with EDS and associated conditions, a specialist is yet to be appointed in Ireland.

Awareness needed

The 34-year-old mother of two said it is important to use this month to raise as much awareness about the condition as possible.

“If it helps one person figure out what is wrong with them, it is a success. Not knowing what is wrong with you and being told it is in your head is so dangerous. I was prescribed so many things, but nothing was working. My frame of mind was very dark before I was diagnosed,” she says candidly.

“There are hundreds of people in Ireland with this condition. I come across people with this condition all the time. Doctors talk about it being rare, but it is underdiagnosed.

“Collagen is everywhere in your body, so when you have faulty collagen it can cause hundreds of issues. It means your joints come out of place very easily which causes a lot of dislocations. You also bruise very easily. You can also have digestive issues, widespread chronic pain, and fatigue issues. Some people can cope and live with it, whereas for other people it can be very debilitated,” she added.

Road to diagnoses

Ms Nevin, who was a journalist with the Cork Independent, said she self-diagnosed initially after writing a story on rare diseases.

“I did a story with a Kinsale woman who had EDS. Her story really resonated with me as I could relate to a lot of the symptoms. I was looking into the condition for ages and it sounded like it was the missing piece of the puzzle. It was apparent to me from an early age. The pain hit when I started puberty. For years, I had been to doctors who said I was depressed. I was on antidepressants for eight years. I fainted at home one day and that made me determined to get to the bottom of it.

“I finally went to a private doctor. He looked at my skin and my joints. He said I had EDS. It was great to finally know. It was bittersweet, but I had to deal with the fact that it was a lifelong and chronic condition. I was going to be living in pain for the rest of my life and it was also a genetic condition. Both of my children have it. It was a lot to process. It took me five years before I came to terms with it. I was 26 when I was diagnosed. Nothing being done about it means I am now in my current condition. I have to use mobility aids and a wheelchair. I also use a walking stick.”

Daily pain 

Evie, who has been on a waiting list to see a consultant for since June 2017, reiterated how painful a day in the life of a chronic pain sufferer can be.

“My husband Martin is my full-time carer. I am on lots of different medications to control the pain, blood pressure, and allergies. I have been waiting nearly four years since my GP sent a referral for pain management and I still haven’t been seen. I have been prescribed Tramadol but it is not touching my pain. They can’t give me anything stronger without seeing a consultant. I am living with pain daily.

“When you are in pain, you are exhausted all the time. Sometimes I have a good day. There is never a day however when I am not in some pain. I can have bouts of insomnia and then bouts of chronic fatigue because you run on adrenaline with this condition. It is very hard for people with this condition to fall asleep. It can be a tough cycle,” she said.

“We have been lobbying the HSE and the Government for one specialist in Ireland who can help us. I went to a physiotherapist in London, but I don’t have a physio here who is EDS aware that I can see regularly. It is not just a joint condition, it needs multi-disciplinary teams as it affects every system of the body. We need a consultant to be appointed badly. The political will has to be there,” she said.

Ms Nevin’s two children Alexander, 11 and Olivia aged six also suffer from EDS. She wants to create a better future for them.

HSE comment 

A HSE spokesperson said: “EDS patients suffer from hypermobile joints and skin and in many, they have only mild or moderate symptoms which include joint pain and poor skin wound healing. These patients are managed mainly within primary care services by their GP and physiotherapy once the diagnosis is confirmed. As it is a rare disease, diagnosis of less severe cases may unfortunately be delayed, as a GP may only very rarely encounter a patient with EDS during their career. Where patients have severe EDS of the joints or where they have other specialist care needs they are referred to an appropriate hospital specialist, but most patients with EDS do not need to see multiple specialists.

“The paediatric and adult rheumatologists currently working in Ireland are trained in the diagnosis and management of the various forms of EDS and patients with severe joint symptoms are referred to rheumatology services. Unfortunately there are long waiting lists for rheumatology services in Ireland which can add to the delay in diagnosis of EDS.

“The Treatment Abroad Scheme is available to patients with EDS whose HSE consultant recommends a treatment that is not available in Ireland. If the HSE consultant does not recommend a treatment because it is not deemed to be of proven benefit or if the treatment they recommend can be provided by the HSE then the Treatment Abroad Scheme will not apply.”

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