‘It’s incredibly isolating to have a child with a rare disease. It feels exhausting’

Parents of children with rare diseases say their concerns are often dismissed, and that insufficient genetic testing combined with a lack of knowledge of rare conditions mean more than a third of people wait up to five years for diagnosis.

“Parents who have been referred to pediatricians around the country are not being believed when they say they have a serious concern and would like to get their son or daughter genetically tested,” says Mary Malin. She is a member of the Rare Ireland Family Support Network, an organisation run by the parents of children with rare diseases.

A rare disease is one affecting fewer than one in 2,000 people and is life threatening or chronically debilitating. There are about 5,100 ultra-rare conditions where there may be fewer than five people in the country with that condition.

Some 80 per cent of rare diseases are of genetic origin. Genetic testing can help diagnose conditions, guide more effective treatments and predict risk for disease.

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Malin’s daughter Emer (15) has the rare disease Jacobsen syndrome. Emer’s symptoms include a heart defect, a bleeding disorder and challenges with speech and motor skills.

Born in England, Emer underwent open-heart surgery at nine months for a congenital heart defect. “She had an eye problem too and there were lots of little things coming up. There was no pulling things together. We weren’t offered genetic testing at any stage, even though she had quite a number of issues,” says Malin.

There followed feeding issues and over time, Emer started missing speech and language milestones and had fine and gross motor difficulties.

“I was pretty sure myself from early on there was something bigger going on with Emer, but the systems just weren’t there to identify that,” says Malin.

After moving to Kilkenny in 2011, a GP referred Emer, then aged four, to St Luke’s Hospital for her heart condition. A pediatrician there was the first to recommend genetic testing. “Without her, it could have taken years to piece things together to Emer’s detriment. We were lucky,” says Malin. “Within a few months the testing was done and it came back with Jacobsen syndrome.”

The thing is, you start to feel it is all in your head. You are thinking, my daughter is getting a lot of infections, she is getting a lot of nosebleeds, she has some sensory difficulties. I know from families around the country that they have not been believed at all

Diagnosis enabled Malin to link with three other families in Ireland whose children have the condition, and with support groups globally.

More than a third of people with rare diseases in Ireland had to wait more than five years for a diagnosis of their condition, according to a 2021 survey by Rare Diseases Ireland. The research also found that a lack of awareness around rare diseases, particularly among GPs and emergency doctors, is one of the reasons behind delayed diagnoses.

“The thing is, you start to feel it is all in your head. You are thinking, my daughter is getting a lot of infections, she is getting a lot of nosebleeds, she has some sensory difficulties. I know from families around the country that they have not been believed at all when they have said, ‘I have a serious concern and I would like to get my child genetically tested’.”

For Malin and her daughter, there followed a year of “non-stop” appointments in Crumlin children’s hospital, she says. “You are coming in with a condition they haven’t met before.”

“Emer had this focus on her heart condition, but actually she also had a bleeding disorder which nearly all children with Jacobsen syndrome have. She had open-heart surgery and the team didn’t know she had a bleeding disorder.”

“More genetic testing at birth is really important because early intervention is key,” says Malin.

‘Diagnostic odyssey’

A better resourced genetic service is essential to identifying and treating rare diseases, says Vicky McGrath, chief executive of Rare Diseases Ireland. More genetic testing done sooner in the diagnostic process and with a faster turnaround of results would reduce the “diagnostic odyssey” experienced by families.

“The first challenge for people with rare diseases is actually getting a diagnosis. A person can be five, six, seven, eight years trying to get a diagnosis,” says McGrath. “It’s incredibly demoralising.

“At the moment, patients are bouncing from consultant to consultant and not getting a root cause diagnosis, unless a consultant refers them to genetics,” says McGrath.

For those who are referred to genetic services, the service is too slow, she says. “For your routine genetic query, it’s going to take about three years.” There are currently 2,856 people on the waiting list for clinical medical genetics, according to National Treatment Purchase Fund data. Some 2,418 of these are children aged between zero and 18 months.

More than half, or 53 per cent, of those diagnosed with a rare disease had been investigated or treated for three or more conditions while seeking a diagnosis, according to respondents to the Rare Diseases Ireland survey.

Some 48 per cent reported seeing between three and five specialists while seeking diagnosis. One in four saw six or more specialists.

Families are dismayed by the process, says McGrath. “You feel very isolated and alone if you don’t know what it is. You have no one to reach out to and ask what is going to happen or what can I expect. The future is just unknown for people until they get a diagnosis.

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“With a genetic service that is working, you would at least get a diagnosis quicker.

“Parents are saying, ‘I know there is something wrong. I know something’s not quite right’. You are told you are just a worried parent, go home, you are fine. And maybe three or four years later a diagnosis is made,” says McGrath. “That’s incredibly frustrating.”

This long diagnostic journey without sooner genetic testing is compounding HSE waiting list numbers as those with a rare disease are referred from consultant to consultant, undergoing a battery of investigations and tests. Not only is the person not getting the care they need, but they may be getting unnecessary and potentially harmful treatment, says McGrath.

Genetic service

Ireland has five filled clinical genetics consultant posts and a further three posts are vacant. A 2019 HSE workforce review of the clinical genetic workforce recommended 15 genetic consultants for our population size. The lack of a functioning national service was due to ‘funding issues in the main’, that review acknowledged.

The priority waiting list for the genetic service was between 15-18 months then and routine referrals wait two years to be seen, the review noted. Inadequate staffing levels and long waiting times were perceived as precluding referrals to the service. A risk assessment of long wait times noted “a number of serious adverse outcomes”.

That 2019 HSE review said the lack of a fully functioning national service led to “poor practice in terms of testing requests and also poor quality foreign laboratories handling Irish samples”.

“We are pretty poor, pretty far down the list on headcount and our lab system has almost fallen down,” says McGrath. “We are sending an awful lot of genetics testing in rare diseases outside of Ireland. To perform the basic testing, we are using private labs in Ireland to send tests to other countries, so there is lots of inherent risk in the system.”

Ireland needs a “clearing house” to avoid duplication, McGrath says. “We need to be able to check that this person’s sample went to the States six months ago, we don’t need to resend it. There is an awful lot of duplication happening because they are referred to one doctor who sends something for testing and then another doctor decides to do some testing as well. Or someone has referred you into the system, they haven’t heard back for a year and they put you into the system again.

“There is no visibility around any of that. If we had a clearing system, we wouldn’t be wasting money like we are at the moment.”

If you have a child with a rare disease you have to advocate for them all the time

A new HSE strategy for genetic and genomic medicine launched in December cannot be “a document that sits on the shelf and gathers dust”, says McGrath. “We’ve got this new strategy and we’ve got to expedite it.”

Genomic medicine uses a person’s genetic make-up to determine disease risk, to diagnose disease and to identify the best treatment options.

Some €2.7 million has been committed to the strategy, according to the Department of Health. This includes the appointment of 16.5 new staff. These include a national director of genetics and genomics, a bioinformatics lab director, six genetic counsellors and two clinical genetic consultants.

Rare diseases plan

A new National Rare Disease Plan, committed to in the Programme for Government, has yet to be drafted. An earlier 2014-2018 plan, published by then minister for health Dr James Reilly, acknowledged the National Centre for Clinical Genetics “faced considerable challenges in terms of under-resourcing by clinical staff”. It further acknowledged that Ireland had the lowest population ratio of genetics staff of 10 European countries studied.

The Department of Health says it accepts a new national plan is required. Minister Stephen Donnelly has raised this with the chief medical officer in the Department of Health, the department says.

Funding for new medicines has been increased in the last three budgets, the department says, including funding for 34 new medicines to treat rare diseases. Reimbursement for medicines takes too long, however, says McGrath. “We’ve set up a system where everything needs to be examined locally and we just don’t have the manpower. We need to look at how Europe can answer some of the questions on the reimbursement side for us.”

Carers

Carers of those with rare diseases are calling for key worker support. “If you have a child with a rare disease you have to advocate for them all the time,” says Malin. “They have all these conditions that are interlinked and you have to find out what part qualifies them to get physio, or occupational therapy or to get into a particular class in school. It is incredibly difficult to find the right medical support and education for your child.” This takes a toll on siblings too, she says.

Malin was forced to give up work to advocate for her daughter. “I am basically on social welfare benefits. You spend an awful lot of your time fighting for those benefits, being reviewed on them, providing information for them. It feels exhausting. It’s incredibly isolating to have a child with a rare disease. I have no financial security. Most carers want to be part of society, but they get pushed to the side. You are very much forgotten about.”

Tomorrow Rare Diseases Ireland invites people to ‘Raise a Toastie’ – make a favourite toasted sandwich, share their creations on social media and donate to Rare Diseases Ireland rdi.ie\donate to help raise awareness in advance of Rare Disease Day, which takes place on Tuesday