Evie Nevin, aged 30, her son Alexander, 7, and daughter Olivia, 2, have the rare and debilitating condition, hypermobile Ehlers-Danlos syndrome (EDS).
Although EDS is slowly becoming more widely known in Ireland, there are no specialists or facilities in the country to help people with this condition.
There is no cure for EDS, but with careful management and specialised physiotherapy the quality of living for someone with EDS can be improved.
Most Irish EDS sufferers are referred to Rodney Grahame, consultant rheumatologist at the Hospital of St John and St Elizabeth, London, who has said: “No other disease in the history of modern medicine has been neglected in such a way as EDS.”
Members of the EDS community have campaigned for specialist treatment here, to no avail. They recently learned that there are no plans by the Government or health services to implement any.
Evie, from Clonakilty, Co Cork, is prone to hip and wrist dislocations on almost a weekly basis. She is extremely effected by changes to pressure and can be left bed-ridden with pain from something as small as a rain shower.
“I went from getting up at 6.30am and getting home at 9pm working as a journalist in 2012 to being someone just existing in 2013,” she explains.
“I remember being very self-conscious all the time because I rarely had the energy to get dressed and people only really saw me in my pyjamas. I got called lazy a lot. That hurt. I didn’t know what was wrong with me, but I knew it wasn’t laziness.
“When Alex was diagnosed my heart broke. I felt so guilty. My genes did this to him but, thankfully, I’ve moved past that now because what’s the point in feeling guilty? He’s lucky that he has been diagnosed so young and that he has an excellent school who support him by providing resource hours, an SNA and movement breaks.
“It was confirmed for me before Olivia was born. I felt her skin and saw the hint of blue in the whites of her eyes when she was born.
“My heart goes out to Martin. He didn’t ask for this at all. When we first met I was still relatively ‘normal’.”
Evie’s husband Martin, 29, has thrown himself into fundraising to get his family the specialist treatment they need, as well as being a videographer. He’s also determined to keep their spirits up.
“I feel like such a burden to him, but he never makes me feel like that,” says Evie. “Even on days when I’m in agony and not so pleasant in my manner, he doesn’t complain. He has never once made me feel bad for being sick or for the kids inheriting my genes. It’s all down to me and my issues.
“He took his ‘in sickness and in health’ vow very seriously! He’s a brilliant dad and husband and treats us when he can so we have things to look forward to. When you’re stuck at home six days out of the week, most weeks, looking at the same four walls, you need something to keep you looking forward.”
For now, the focus is on fundraising, but the Nevins are facing the fact that they may have to emigrate to properly deal with the condition. They have been told they cannot access either the Treatment Abroad Scheme (TAS) or the Cross-Border Directive (CBD).
“The TAS only covers treatments available on the NHS,” says Evie.
“The Hypermobility Unit in St John’s and St Elizabeth’s in London is a private hospital so our consultancies and treatments won’t be covered.
“The CBD will only cover medical issues that are also available here in Ireland and the tests and scans I must have in London are not available in Ireland.”
In a statement, the HSE said: “EDS is treated across Europe by multidisciplinary teams, often led by physiotherapists, with extreme cases being sent to orthopaedic for corrective surgery. EDS is readily treated in Ireland by physiotherapists. There is no specialist centre in Europe or the UK.”
Evie refutes this: “There is no treatment available here, no matter what they say. The people in charge will say rehab in Harold’s Cross is an option, but they are in no way experts and the reviews from my community haven’t filled me with any confidence that they could take care of me and my complex conditions.
“Right now, we are aiming to move abroad somewhere where there is better care and where the air pressures are more stable than Ireland. The kids are becoming affected by the pressure changes too. Both of them wake in pain when we have particularly nasty weather.
“Obviously I can’t blame the Government for the weather, but I do blame them for not setting up a clinic for people with connective tissue disorders.
“We need somewhere with a multi-disciplinary team like in London. We need consultants that communicate with each other. Things slip through the cracks because of the lack of communication and a holistic approach.”
One development that could make a huge difference to the family’s lives is medicinal cannabis. Those with EDS are often resistant to pain medications and they find it difficult to manage their pain. Medical cannabis is recommended for EDS patients in the US.
There is an increasing call by medical support organisations for greater access to medicinal cannabis for patients with debilitating conditions.
A Health Products Regulatory Authority report published last month advised that, if a policy decision is taken to permit cannabis under an access programme, it should be for the treatment of patients with three conditions — spasticity associated with multiple sclerosis; intractable nausea and vomiting associated with chemotherapy; and severe, treatment-resistant epilepsy that has failed to respond to standard anticonvulsant medications.
“When health minister Simon Harris announced that only three conditions would be approved, none of which are related to chronic pain, I was devastated,” says Evie. “I had been hopeful and excited at the idea of having some normality back in my life.
“Medical cannabis could be seriously life-changing for my family and me. In the US, EDS experts highly recommend cannabis as a form of pain relief as many patients are resistant to painkillers, specifically opiate-based pain medications.
“I have changed pain medications so many times because I’ve become resistant pretty quickly to them. This is now starting to happen with my current medication, Tramadol.
“I’d rather have medical cannabis over my Tramadol because taking 5,000 painkillers a year can have serious repercussions on my body. If I can access cannabis safely and with help from the HSE, I may not develop symptoms of long-term opiate use such as depression, hormonal dysfunction, and respiratory depression, to name just a few.
“I have used cannabis-based products to manage my symptoms. I use a MediPen, which has been helpful for my chronic fatigue, but not for my pain. I have smoked cannabis and I find that, on days when my Tramadol isn’t working, it’s the only thing that helps manage the pain.
“I also find it good for my appetite because I don’t eat a lot when I’m in a lot of pain. I’m so nauseas and I find Tramadol suppresses my appetite sometimes. There are days I’d be lucky to get 800 calories into me. I would like to be able to access cannabis legally so that I can function a bit better in my day-to-day life and be a better mother and wife to my family.”
For now, another round of tests and physiotherapy for Evie, Alexander, and Olivia at St John’s and St Elizabeth hospital in London, as well as flights, accommodation, and private medical consultations in Ireland, mean the young family need to raise in the region of €10,000 for the first trip.
Martin says: “It pains me to see my family suffer. I can do nothing but watch when their symptoms flare up. I’m left helpless.
“So I’m asking the public for their help, as a father and as a husband, to send my family to get the treatment they need. Anything you can spare, even a few euro, will make a massive difference.”
You can find out more on their GoFundMe page, or on Facebook.
Ehlers-Danlos syndrome is a genetic connective tissue disorder that affects the joints, skin, and blood vessel walls.
Sufferers usually have overly flexible joints and stretchy, fragile skin. This can become a problem if a wound requires stitches.
There are 13 types of The Ehlers Danlos Syndromes and symptoms vary.
Overly flexible joints can result in dislocations and early-onset arthritis. Fragile skin may develop prominent scarring. Those with the vascular disorder are at risk of often-fatal ruptures of major blood vessels. Some organs, such as the uterus and intestines, may also rupture. Pregnancy can increase these risks.
In other forms of the disorder, fainting and low blood pressure occurs because blood vessels stretch. Stomach wall lining is fragile and bowel ruptures can occur. Constipation and other motility (movement) disorders feature, as does gastroparesis (paralysis of stomach; inability to process food).
Excessively loose joints are the hallmark of hypermobility disorder as suffered by Evie, Alexander, and Olivia. Large joints and small joints are affected. Partial and total joint dislocations are common. Many experience chronic limb and joint pain.