Brave Crossmaglen mum battles rare condition
A young mum from Crossmaglen has opened up to The Examiner about her battle with the debilitating condition Ehlers Danlos Syndrome (EDS) in a bid to raise awareness about the rare disease and to kickstart a fundraising campaign to raise vital funds to send the 36 year old to private specialists in London.
Caroline Hughes has EDS Type3. A wife to Neil and mum of 3 young children, aged 6, 4 and 3, she struggles daily with the effects of the progressive and incurable condition which affects her musculoskeletal system, her autonomic system, the connective tissues and collagen of the body, as well as her vital organs. A person with EDS can have varying symptoms from frequent dislocations to mitral valve and organ prolapse. There is no cure for the illness, only management of the symptoms.
For Caroline, the splints on her arms and hands are a constant reminder of her regularly dislocating joints and she lives with chronic pain and extreme fatigue.
The busy mum now finds herself in the same heartbreaking predicament as fellow EDS sufferer, Seanin Smith, from Belleeks, whose ongoing fight against the disease has been well documented by The Examiner in recent years. Due to a lack of specialist medical help for EDS in Ireland, Caroline – like Seanin – needs to travel to a private clinic in London and may also require surgery in Spain and the USA. During the fundraising process, Caroline is also determined to help raise awareness of the rare condition and about living with and managing chronic conditions and pain.
“I am hoping to raise enough money to get to the EDS clinic in London as there are no specialist centres in Northern Ireland or anywhere else in Europe,” Caroline explains.
“The chances are, as I’ve been having problems with my neck and am in a neck brace full-time now that I will need the same Craniospinal surgery that Seanin Smith underwent.”
Caroline has only been diagnosed with EDS within the last year but she says it has been an ongoing problem for the last 25 years.
“It was misdiagnosed as growing pains when I was younger, fybromyalgia and all sorts of things until eventually I got a diagnosis from the rheumatologist – and then everything started to make sense.
“EDS symptoms are so varied and it’s such a rare condition, affecting just 1 in 50,000 people that it is often misdiagnosed. Symptoms can go from bruising easily to extreme fatigue for no reason, dislocation of bones – there’s such a wide spectrum of symptoms that’s where the problem lies in getting diagnosed correctly. Also, whenever you see a consultant you’re dealing with one symptom, one part of your body, so the whole picture is never looked at so then it’s only when you piece it all together that it becomes clear.”
Caroline describes her diagnosis as “a relief to finally be told something concrete.”
“I had been going to doctors for 25 years with chronic pain, not knowing what was wrong with me and I was starting to doubt myself,” she says.
“My parents had been bringing me to doctors since I was 11 or 12 with chronic back pain, chronic leg pain, dislocating bones, erratic nose bleeds so this was going on and on and we never got to the bottom of it.
“For a stage I stopped trying to find out what was going on but then after I had each of my three children the symptoms were exacerbated and I knew I needed to find out what was wrong with me.
Caroline’s says that during her pregnancies her symptoms settled but as each pregnancy took its toll on her body, her symptoms became a lot worse.
“After my third pregnancy I was pretty much bed bound. It was at this stage where I became determined to get to the bottom of it all.
A rheumatologist in Craigavon was finally able to diagnose Caroline last year. As a Podiatrist, her strong medical background meant she had already worked out that she could have an incurable condition.
“I did think in the back of my head that I had EDS but I’d never actually said it to anyone,” she explains.
“I told the consultant I wasn’t surprised and was just glad to finally have a diagnosis.
“People don’t know enough about it here. They don’t know how to treat it so then you are treated as a so-called ‘normal’ patient. For instance other patients would go through rehab and physio to help their muscles but this actually makes our joints and muscles worse – so there are risks with the lack of knowledge on the condition.
“The experts on EDS are in London so this is my first fundraising step to get to London,” adds Caroline, who wears a permanent neck brace as a result of her cranial instability and a walking stick to help her get around, requiring a wheelchair if she has to travel any distance.
Asked how she manages on a day to basis whilst battling such debilitating symptoms, the busy mum-of-three says she would not be able to get by without the help of good friends and family.
“I’m very lucky to have a good community around me here in Crossmaglen. My door’s always open and people are very good in helping me with the children. Both our families are great and my friends have been invaluable in helping keep my spirits up. It’s so important to keep your spirits up, even if it’s just to make the effort to go for a coffee and a chat. Chronic pain is invisible so if people see you out and you look well they assume everything’s ok and that’s fine but there is a mental strain with dealing with chronic pain because it affects you all the time.”
Caroline also suffers from Postural Orthostatic Tachycardia Syndrome (POTS) as a result of her EDS. The condition means simply changing position from sitting down to a standing position can cause an abnormally large increase in heart rate, called tachycardia, which can cause frequent blackouts and light headedness.
“All these sub-conditions are part of the EDS,” explains Caroline.
“Your body just becomes so fatigued you can slip into mini-comas where you literally can’t be woken up.”
Despite the constant pain and debilitating symptoms, Caroline’s outlook is a positive, philosophical one.
“I really just have to take each day as it comes, I can’t plan anything and whenever I have a good day I just roll with it,” she says.
“I’m well known for my “build a bridge and get over it” philosophy so I try to live that way – there’s nothing that I can’t get over, I just sometimes have to go a different way about things but I get there in the end!”
She credits her three children with giving her the incentive to get out of bed every day.
“I’m incredibly lucky to have the kids,” says Caroline. “EDS is one of those conditions where it would be very easy to lie down and let everything get on top of you and I can totally understand that if you didn’t have something to get up for you could just stay in bed. It might take me an hour to physically get out of bed but the kids coaxing me to do it makes me want to get up and be with them.”
“The children do know that I’m not well, they know that mummy is sore and that I have good days and bad days but they’re great about it.”
Heartbreakingly, doctors believe there may be a genetic link with EDS and Caroline’s children will all be tested for the condition.
“Doctors think I’m the first in my line where the gene mutated but because my daughter had dislocated hips and has hypermobility she will be tested first. I feel she’s much better knowing if she has the condition and learning to manage it rather than go 20 or 30 years trying to figure it out.”
The brave mum also highlights the sad reality of EDS sufferers having to self-fund their treatment -something she says is not limited to Ireland.
“A huge number of sufferers around the world have to fundraise to pay for treatment and surgery. There are only two neurosurgeons who specialise in EDS – Mr Henderson in America, who performed Seanin’s surgery and Mr Balize in Spain.
“There are several fundraising events in the pipeline and we will be stepping up the campaign once I know what treatment I need. It’s awful that we need to raise funds but it is the only chance I have of managing my debilitating symptoms and trying to lead any semblance of a normal life.”
Family and friends will be organising a number of local and online fundraising and awareness events and hope that, with the support and generosity of the local community, Caroline will get the treatment she so desperately needs.
To donate to Caroline’s justgiving page follow the link https://www.justgiving.com/crowdfunding/caroline-mcclelland-hughes