Saturday is designated World Rare Diseases Day in an attempt to highlight rare diseases and their impacts on individuals and their families. Rare diseases by definition affect less than 0.05 per cent of the population. They are usually chronic, progressive, degenerative and life-threatening.
There are currently about 8,000 known rare diseases. Although often associated with developmental delay, mental, physical and sensory impairments, many of these conditions are so rare that there are few experts, which often results in mis-diagnosis or diagnosis delayed for several years.
It is estimated that 300,000 people are living with a rare disease in Ireland. A retrospective study of children born in Ireland in 2000 found that at least 4 per cent of children born that year were diagnosed with a rare disease by the age of 17. Ireland has a particularly high rate of rare genetic diseases due to historically large families, yet there is no comprehensive rare disease registry in this country. However, a new guide to rare diseases in Ireland has just been published.
JOYCE STOKES – MULTIPLE SYSTEM ATROPHY
Joyce Stokes (47) has a rare neurodegenerative disease called multiple system atrophy.
Stokes, who is from Kilcoole, Co Wicklow, first realised something was wrong when she was 41. “I had a pain in my shoulder and thought it was from running as I used to run 5-6km every second or third day. But then I got a trembling in my leg. I went to a consultant in St Vincent’s Hospital, Dublin, to have a MRI scan.”
Following the scan, Stokes was diagnosed with Parkinson's disease and put on medication to reduce the tremor. On one of her visits to St Vincent's Hospital, she met Katie Riggs, the nurse specialist with the UK-based Multiple System Atrophy (MSA) Trust. "She saw straightaway that I had MSA, but because it's such a rare disease, there is no specific medication for it. I still take medication for Parkinson's to reduce the tremor."
Over the past six years, Stokes says her condition has deteriorated. “I have my good days and my bad days and if I have a bad night’s sleep, the trembling becomes more frequent the next day. On these days, I wouldn’t take the car out and I’d stay indoors.”
Although no longer able to run – due to the risk of falling – she does workouts in the gym. “On a good day, I go for coffee with friends although I do feel quite anxious before I go out. I’ve heard that sometimes people might think that individuals with my condition are drunk because of poor balance and slurred speech. My husband is at work during the day but my dad and my good friends help bring my teenage children to sports activities.”
Stokes says her family is worried about her future as she finds she is doing everything at a slower pace now. “It can be depressing but it’s good to keep motivated. I still go to the gym and I go swimming. I go for physiotherapy when I need it and the staff at St Vincent’s Hospital has been very supportive. But because there are so few people with the condition in Ireland, there is no specific centre for MSA.”
SHARON TRACEY – STARGARDT DISEASE
Growing up in Co Offaly, Sharon Tracey assumed everyone had the same blurred vision that she experienced when reading text books or looking at the blackboard in school. It wasn't until she was doing a secretarial course in the Regional Technical College in Athlone (now Athlone Institute of Technology) that she realised something was seriously wrong with her vision.
There is no cure or treatment for Stargardt disease. I couldn't work without assistive technology on my computer
An appointment with her local optician led to a GP referral and then referrals from one eye clinic after another until she was finally diagnosed with Stargardt disease – a rare form of inherited juvenile macular degeneration – at the Royal Victoria Eye and Ear Hospital in Dublin.
“I had epilepsy as a child and suffered from headaches and tiredness so no one had realised I had problems with my eyes too,” she explains. Stargardt disease is a genetic condition which affects the central region of the eye known as the macula. Light sensitive cells (photoreceptors) degenerate, which leads to gradual decline in central vision. Side (peripheral) vision is maintained.
“My experience is that my vision deteriorates, then stabilises and then deteriorates again. There is no cure or treatment for Stargardt disease. I couldn’t work without assistive technology on my computer,” explains Tracey.
Having finished her course in Athlone, Tracey returned to Offaly but the birth of her daughter, Amy-Louise, in 1989 gave her the impetus to pursue her studies further. "When I was first diagnosed, I felt I was useless and inadequate. Having my daughter was a turning point in my life in that I needed to do something for us both. My relationship with my daughter's father had finished and my sister and brother-in-law took my daughter while I trained to be a blind telephonist at the National Rehabilitation Board [now National Learning Network] in Sligo."
Tracey worked in that job for a while before doing the open exam for clerical officer in the Civil Service. In 2000, she moved back to Tullamore to work for the Department of Education and Skills and has since moved up the ranks to become an executive officer.
In spite of her diminished sight, she embraces life to the full. “Everything in my life is adjusted because of my condition but I am highly organised and I pre-plan. I also ask for and accept help so that I can achieve the things I want to do,” says Tracey.
Her active life includes yoga, dancing, singing in a choir and regular travel both to see her now-adult daughter in Canada, her parents in the UK and further afield. "I love travelling. I can't drive or ride a bike but I've been on a tandem around the Ring of Kerry. I've climbed Croagh Patrick in the snow and swam in the Red Sea. I set myself challenges every year," she explains.
And she volunteers with local charities in Co Offaly. "I've worked with the National Council for the Blind, Irish Guide Dogs Association and I'm currently volunteering with the Centre for Independent Living in Offaly," she explains.
Tracey also gives motivational talks to people who have disabilities of various kinds. “I’ve accepted my eye condition. It’s part of who I am,” she adds.
MICHAEL MacGINTY – HEREDITARY HAEMORRHAGIC TELANGIECTASIA
Michael MacGinty from Letterkenny, Co Donegal, says that watching family members having serious unexplained nose bleeds has been part of his life for as long as he can remember. "My earliest memories are of my grandmother constantly clutching a handkerchief that was blood-stained. My father had blood-soaked handkerchiefs all over the house and in his coat pockets and in his car," he explains.
However it wasn't until 2002, while watching an item on RTÉ television's Late Late Show about a nine-year-old girl who died of Hereditary Haemorrhagic Telangiectasia (HHT) did his father realise he had the same condition.
Some family members subsequently travelled to the Mercy University Hospital, Cork, to be screened and genetically tested for the condition by interventionist radiologist Dr Adrian Brady. Michael MacGinty, his sister Dara and brother Padraig were diagnosed with the condition.
“As well as having bleeding points in our nose, we also have points in our lungs that are susceptible to bleeding which must be scanned and embolised [blocked to stop bleeding],” explains the 59-year-old.
“Everyday life for me includes unexplained and regular nosebleeds. Most of the time, these bleeds just happen with very little warning so shirts, pillows, bed sheets all get regular soaking. It’s all a bit inconvenient but at least I know what ailment I have and how to manage it,” he says.
Sadly, his father Padraic died in 2004 as a result of complications from HHT. But, even more tragically, Michael MacGinty’s nephew, Paul (also diagnosed with HHT) died from a traumatic bleed in his lung aged 22, having just graduated from college and on holidays in Paris.
This tragic early death prompted Paul's mother, Dara Woods, to set up HHT Ireland to increase awareness of the condition. "About 90 per cent of people in this country don't know they have HHT and get misdiagnosed or treated incorrectly," says MacGinty.