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'I thought I was crazy': Patients with rare diseases urge next government to deliver on supports

Around 6% of the population in Ireland is living with a rare disease such as PKU and cystic fibrosis.

Aine Lawlor with her mother, Anne Lawlor who chairs the 22q11 Ireland support group.
Aine Lawlor with her mother, Anne Lawlor who chairs the 22q11 Ireland support group.

PEOPLE LIVING WITH rare diseases have come together in a call to politicians engaging in government formation talks to make supports for those living with the conditions a priority over the coming weeks. 

Political parties are currently examining potential coalition options to form a new government and will be in talks for a number of weeks to come. 

Advocates and patients want a number of supports to be central to any programme for government, including staffing for genetic diagnostics and counselling, and better funding support for patient groups. 

Speaking at an event in Dublin’s Mansion House this morning, ahead of Rare Diseases Day on Saturday, chair of the rare diseases taskforce, Philip Watt said: “the reality is for many people living with a rare disease, and their families in Ireland, is that they will have to travel long distances to consult with the few experts who have experience.”

“The key issues are the long waiting lists for key services such as clinical genetic counselling, which is one we’ve been campaigning for a long time for.”

The taskforce published a guide with 10 recommendations that if implemented would greatly enhance the lives of those living with rare conditions. 

Thirty-six-year-old Aine Lawlor was diagnosed with 22q11 deletion syndrome – a condition which is caused by the deletion of a small part of chromosome 22 – when she was 15. 

She described living with the condition before her diagnosis and the impact it had on her life as a young child and on into her teenage years. 

“Before I was diagnosed I was in a really bad place. I felt really lonely, I had hardly any friends, I didn’t know how to hold a conversation, I didn’t know how to talk to people. I felt really isolated,” she said. 

“I stayed in the house all the time and watched TV. I didn’t know how to voice my opinion. I was very quiet and shy – not anymore – I used to play games on my own. I used to sit on my own at birthday parties. I wouldn’t even say hello to people. I always thought I was going a bit crazy.”

Lawlor spoke about the difficulties she faced in what would for many people be ordinary tasks – tying shoes laces, reading and writing. If greater awareness was made about the challenges faced by people living with rare diseases, it would make day-to-day life easier for patients, she said. 

“When someone told a joke, I wouldn’t laugh because I wouldn’t understand the joke. I was often delayed at tasks that were right in front of me, like riding a bike and I got bullied at school. 

“If people like me were diagnosed earlier, it would help us get the help that we need to live a good life. There was no help for me or for mam either. Even when we got the diagnosis there was really no one there for us, no support groups or anything. 

“Everything changed when my mam brought me to France for a conference. It was there I sat in the audience and I learned about my condition.

“The one presentation that stood out the most was Dr Tony Simon. When he got up, he spoke and everything made sense. I even began to realise why I was so delayed with things. 

“It was because I was struggling. In Tony’s talk, he says there are two different types to us, you can be a ‘coper’ or a ‘struggler’. I sat there and said to my mam, if only I knew that when I was younger life would have been a little bit easier.

“The best thing I learned was that I wasn’t crazy because I thought I was crazy.”

There are an estimated 6,000 to 8,000 rare diseases, including cystic fibrosis, PKU and haemophilia, which affect up to 6% of the population in Ireland.  

Some 70% of rare diseases are first appear in childhood and are lifelong, while 72% of rare diseases have a genetic origin. 

Outgoing health minister, Simon Harris also addressed patients and patient advocates promising his department will continue to look at ways to support people living with rare diseases. 

“We have made some progress, one of the key recommendations was to establish a national clinical programme for rare diseases… and the setting up of a rare diseases office, both of which are now in place,” he said. “We’re continuing to support those offices in their work.”

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