Around 70% to 80% of rare diseases are genetic. Many appear early in life and it has been estimated that 30% of children with rare diseases will die before reaching their fifth birthday.
It is unimaginable the demands that such a terrible reality makes on a family.
Some of the challenges can include a failure to identify symptoms, which medical practitioners rarely encounter.
There has been a growing awareness in Ireland in recent years of the devastating impact of living with a rare disease, particularly for families without access to adequate services and expertise.
Delays and inappropriate treatment can aggravate existing symptoms and leave those affected feeling helpless, vulnerable, neglected, misunderstood and uncertain about their children’s future health. Such progressive disorders require pre-planning and fast track support.
When she was just nine, Kerry-Ann noticed that her jumpers and T-shirts were getting very tight and uncomfortable around her neck but her GP said it was nothing to worry about.
After a series of tests Kerry-Ann was told that she had teenage goitre, that it was nothing to worry about and that she would grow out of it in time. That was in 1999.
Kerry-Ann remembers “I was 16 and I was scared when I was finally diagnosed as having thyroid cancer. I had been attending the hospital for seven years with the same problem and it wasn’t detected earlier.”
Cancer of the thyroid is rare, particularly in a young person. After a year and a half off school while she underwent surgery and eventually radiotherapy, Kerry-Ann came back fighting and passed her Leaving Cert. She is now attending college and getting on with her life.
Orphan drugs created specifically to treat rare diseases are often expensive due to high research and development costs and the fact that there is only likely to be a relatively small patient base from which drug companies can recoup costs.
It is the more common diseases, which tend to attract the largest budgets.
But good news for children who are affected was released last year when Health Research Board-funded researchers at Crumlin Children’s Hospital and UCD developed new genetic tests to speed up diagnosis of rare diseases in children and to help avoid the need for invasive procedures. These tests were launched nearly a year ago on European Rare Disease Day.
New developments aside, the ordeal of a child’s grave illness or injury tests families far beyond any normal level of endurance and takes an enormous toll financially, emotionally and physically.
Parents Terry and Brendan Ring set up Cliona’s Foundation, whose patron is Miriam O’Callaghan, to support families undergoing just such pressures. Terry told me how the couple used their tragedy to help others.
Terry, when did yourself and Brendan start the Foundation?
We created Cliona’s Foundation in 2007 after the death of our daughter, who died in 2006 from an inoperable brain tumour.
Our goal was to assist families during their time of crisis. We believe that no family should have to face additional financial stress when they are already struggling to cope with the devastation and trauma of caring for a critically ill child.
We want to be there to help them cope with their heartbreaking journey. I can remember all too well how difficult it got during Cliona’s illness. There are so many extra expenses for families and one parent may have had to give up work.
Parking costs, eating out, accommodation and perhaps paying for care for any siblings.
I believe your organisation is unique in that it provides for so-called “hidden costs”.
That’s right. Cliona’s Foundation is unique in that it focuses completely on non-medical assistance associated with the illness.
At any one point, there are 1400 critically ill children in Ireland with an additional 400 new seriously ill children diagnosed each year We hope to support 160 of these families over 12 months and this will require at least €320,000.
We receive no state funding and we rely entirely on the fantastic volunteers and fundraisers who support us. Some time after we lost Cliona a group of family and friends came to us and said they wanted to do something, to fund raise in Cliona’s memory. That was how it all started.
Were you one of those parents who had to give up work once Cliona was diagnosed?
Yes, eventually I did. She needed me with her and I had been working as a legal secretary, a demanding job.
Also I wanted to have time to be with her brother Colin. Once she started doing better, I went back to work part-time and for eight years, she seemed to have improved.
I am very glad that we made the most of that time we had together. She was a fantastic girl who had a great sense of humour. I remember waking up one night when I’d stayed with her in the hospital.
It was about two or three in the morning and there was no Cliona in the bed next to me. But I could hear laughing and giggling in the room next door and sure enough, there was Cliona telling jokes to one of the nurses. She didn’t know her tumour was inoperable.
One of the things she said she wanted to do was to stay in a five-star hotel, so that’s what we did and she loved it. By the time Cliona died, we had come to know so many families who were going through what we had. One parent hadn’t lived at home for over three months.
We loved her so much and it was a privilege to have had her in our lives. The Foundation honours her memory and continues to help other families who have to face similar tragedies.