Joan Johnston had a long career as a physiotherapist. But that all changed when her son Leo was born. Now seven years old, Leo was born with Angelman syndrome, a rare neurogenetic condition which means he requires 24/7 care.
“He wasn’t hitting his milestones, so we had assessments and just a few months shy of his first birthday, he was diagnosed with Angelman syndrome,” she says. “He had a provisional diagnosis of cerebral palsy … it’s very common to initially get some kind of diagnosis and then have a genetic screening and get a refined diagnosis.”
A part of the condition is the development of seizures, with Leo having his first aged just 14 months. He also had difficulties feeding and was failing to thrive.
“I took carer’s leave from my work as a physiotherapist. I went into health advocate mode for Leo and I was like, ‘my son is going to achieve everything’,” says Johnston.
This was a very challenging time, she adds and her mental health “suffered” as a result. “He was awake for 18 to 20 hours a day. Actually, in the early days, it was a lot longer, he only slept about two hours a day.”
This experience, as challenging as it was, made Johnston realise there were elements of the health service that she wanted to change. She had worked in it clinically before but decided it was now more an advocacy role she wanted. Now, she is the national co-ordinator of COPD [chronic obstructive pulmonary disease] Support Ireland.
“Having been on that clinical side, I thought I was a really good clinician and that I understood what my patients needed, and I did to an extent. But what I didn’t see was the impact on their lives and how that changes a person’s priorities about what is important to them.”
Speaking in advance of the Health Service Executive’s annual public partnership conference, Joe Ryan, national director for HSE public involvement, culture and risk management, says having patient voices at the centre of discussions around reforming services is important.
“They know better than anyone what’s working and what’s not working. And more importantly, the best way to get patient-centred services is to have patients at the centre of actually designing [them]. And the evidence is there, we have better outcomes when you do that,” he says.
“I think for a lot of years, health services were developed on the basis of being a service centre: what we think is best for you. But we’re shifting that narrative to one that is you need to be telling us what’s best for you and how we can best deliver those services.”
Often, when patients get involved with advocacy, it is because they had a bad experience, he says.
“So you start off, you’re angry, you just want to know why did this happen to me? And the people who work with us have gone through that and have said, ‘there’s no point in just being angry all the time and fighting the system. You’ve got to get in and help make the change in the system’,” adds Ryan.
For Anne Lawlor, that was the very reason she began her career in advocacy. In 1998, her daughter Áine was 15 when she was diagnosed with what she was told was a “rare genetic disorder”.
Known as 22q11.2 deletion syndrome, Áine’s symptoms were primarily centred on not feeding properly, repeated infections, global developmental delay and a cleft palette that went undiagnosed for many years.
“So what she had was a host of minor, disparate symptoms. Nobody joined the dots. But when we got the diagnosis, I was absolutely isolated,” says Lawlor. “There was no information, no mechanism where I could approach the HSE, there was absolutely nothing. So I had to go outside the country to get information.”
Áine is 41 now but Lawlor says she is “still struggling” though finding solace in her advocacy group 22q11, where she can speak to other families who have had similar struggles.
“The first five years tend to be about medical needs, then it’s about school and special education, and then mixed in with all of that is trying to organise social care needs. That is the most exhausting thing,” she says.
“I’m in the dark, in a maze. And I would say I was going up and down this maze and around corners and all of that. And so I had to go do the onerous work of setting up a charity. And the reason for that is I wanted to make sure no one else had to be as in the dark as I was.
“You cannot know about this condition if you just read about it, if you’ve done a PhD in it. I’ve a PhD in lived experience. You only know what it’s like if you’ve lived it.”
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