Galway woman with rare disease feels let down by the health system

Barbra McDonagh describes how she lives in constant pain which affects every part of her body. Ms McDonagh, who is originally from Ballinfoyle but now lives in Cork, feels completely let down by our health service. She has been displaying symptoms of Ehlers Danlos Syndrome since she was six months old but, shockingly was only diagnosed by her GP last August, at the age of 38. Furthermore, she had to travel to London for an official diagnosis in April because there is no EDS specialist in Ireland.

Individuals with EDS have a genetic defect in their connective tissue - the tissue that provides support to many body parts such as the skin, muscles and ligaments. The fragile skin and unstable joints found in patients with EDS are the result of faulty or reduced amounts of collagen. Collagen is a protein, which acts as a "glue" in the body, adding strength and elasticity to connective tissue.

EDS can also cause Dysautonomia, which means that the automatic functions which keep the human body moving like heart rate, blood pressure, breathing rate, temperature control, and digestion malfunction all the time. Barbra's autonomic nervous system can not regulate itself, so things like walking, sleeping, eating, hunger and digesting food, thirst are a major problem. She is now using crutches, and occasionally a wheelchair.

Suffering

She is in pain all the time and has frequent partial joint dislocations. ''The pain never stops even with heavy duty painkillers. My first thought on waking each day - should I have been lucky enough to get to sleep is - 'is my shoulder where it’s supposed to be' because I often dislodge it during the night. Eating can cause so much pain and discomfort that at the moment I eat only one meal a day, usually late in the evening so I can deal with discomfort without it interfering in my work day. EDS affects every area of my life now, I literally consider every move I make and weigh up the impact it will have on the rest of my day.''

The Galway woman, who manages to hold down a full-time job in UCC, is full of praise for her GP, Dr Der Maloney who managed to eventually diagnose EDS last year. It is believed that around 1,000 people in this country suffer from the rare disorder. "I was lucky I moved to Cork when I did, I was lucky I signed on with the GP I did, I was lucky that he had other patients who had EDS, otherwise I'd still be sitting here getting sicker and sicker, believing I was suffering from depression and all the pain was in my head. Luck shouldn't be a factor in getting the proper diagnosis or treatment."

Following her diagnosis she went through a range of emotions including anger, disbelief, resignation, and grief. "I was very angry about being misdiagnosed on so many occasions, I wanted to blame someone, anyone, 30-odd years is a very long time for a serious condition like EDS to be overlooked. When I thought about all the doctors and consultants I had seen, I realised that there wasn't any one person to blame. The problem is the Irish health system."

No Support

There are no specialist consultants, treatment centres, or support services available for EDS sufferers in Ireland. By telling her story, Ms McDonagh's aim is to increase awareness about the condition. She says doctors are not learning enough about EDS at third level to be able to recognise the symptoms, and tells a worrying anecdote about a trip to hospital last month. "I was in with a suspected brain bleed, and the A&E doctors had to look up EDS online. As if I wasn’t frightened enough, but this is a very common experience for sufferers. The issues I see on my many visits to our accident and emergency departments scare me. If patients with commonplace conditions and illnesses can't get adequate treatment, what hope do those of us with rarer conditions have. There is a fundamental flaw in our health care system, it is broken."

Without correct treatment and intervention, the disorder will inevitably progressively degenerate her mobility and function. Her symptoms are getting worse and walking unaided, along with eating and sleeping, are no longer things she takes for granted. With EDS, a full medical and multi-disciplinary team is needed to manage the condition. The only treatment options available are in the UK at an estimated cost of €30,000.

A fundraiser in her honour will take place at Our Lady's Boys Club on Sea Road this coming Sunday July 19. The “WildWest ZebraFest” is a family fun day which will include entertainment from Galway Community Circus, The “Q” Club, Jay Molyneux Dance Company, The Colours Street Theatre Group, The Galway Women’s Football team, Monroe’s Tavern, Group Candeias Connaught and much more. Speaking ahead of the event, which promises to be an excellent day out for all the family, she poignantly says, "I deliberately looked for entertainment and performers that were very energetic, agile and had lots of movement because these are very things that EDS has taken away from me."

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