Care of patients with rare disease who live outside Dublin to be moved away from capital

CEO of Rare Diseases Ireland Vicky McGrath (left) and Minister for Health Jennifer Carroll MacNeill (right) at the national rare disease strategy 2025-2030 launch at the Department of Health in Dublin. Photo: Brian Lawless/PA

A new national strategy for rare diseases could see a shift from Dublin-centric care to more local access and give people hope for change, Vicky McGrath, Rare Disease Ireland chief executive, has said.

About one in 17 people in Ireland have a rare disease.

Ms McGrath is a patient advocate and was closely involved with developing the strategy published on Wednesday.

In 2022, Rare Disease Ireland had found 37% of patients with a rare disease waited over five years just to get a diagnosis.

Ms McGrath said she is now “optimistic” but cautioned real change will take time.

“The biggest thing from the patient community perspective is going to be integrated care, a really concerted effort now to have much better co-ordinated care,” she said.

This could include closing the gap between child and adult services.

“We still have a very hospital-based system but people are living out in the regions, and the services have to move,” she said.

Vicky McGrath: 'Diagnosis is the first hurdle for many families.' Photo: Sam Boal/Collins Photos

“It’s not going to happen overnight, it can take months and years to actually get people on the ground but there is definitely an intent there. That was very clear at the launch today.” 

Some €6.5m was allocated for this year and €8m for next year.

“Ultimately some of the expertise can be transitioned into the HSE regions,” she said. “Most of the expertise is Dublin-centric at this stage so can we move some of it into the regions?” 

She also said: “The challenge will be how does this work in the regions, will they be able to step up six regions to do this effectively? Will some regions end up being better than others?"

Patient feedback is expected to show whether this is working, she explained, saying the strategy can “give people hope that things will turn around". 

Another of the 11 recommendations in the National Rare Disease Strategy 2025-2030 is for expansion of screening, diagnostic and genetic services.

“Diagnosis is the first hurdle for many families,” she said. “We need to do something with newborn screening, we’ve got to make more of a concerted effort to get the amount of screening done up to European averages.” 

The strategy also recognises the financial cost of these diseases based on feedback in patient forums.

(Left to right) Deputy Chief Medical Officer Prof. Ellen Crushell, Chairperson of the Natural Rare Disease Steering Group Prof. Cecily Kelleher, Clinical Director of the Natural Rare Diseases Office Prof. Atif Awan, Rare Disease Advocate Ms Anne Lawlor, CEO of Rare Disease Ireland Ms Vicky McGrath and the minister for health Jennifer Carroll MacNeill at the launch of the National Rare Disease Strategy 2025-2030 at the Department of Health in Dublin. Photo: Sam Boal/Collins Photos

The document states: “The financial strain associated with travel to frequent appointments, periods of in-patient care, and the need for specialised equipment can be overwhelming.” 

Among changes recommended is for medical card assessments to take account of these expenses. Moving services to the regions could also reduce costs, the strategy says.

Health minister Jennifer Carroll MacNeil welcomed patient involvement. This will continue through a partnership advisory group.

“I look forward to our continued engagement as we work to create a health service that enables everyone with a rare disease to reach their best health potential,” she said on Wednesday.

“By working together, we can ensure that every person living with a rare disease in Ireland can live a life of dignity, inclusion, and hope.”