'Huge risks' for children with rare diseases in Ireland

'Huge risks' for children with rare diseases in Ireland

(Left to Right) Vicky McGrath CEO Rare Diseases Ireland and Minister for Health Simon Harris. Ms McGrath said services are wholly inadequate. Photo: Gareth Chaney/Collins

There are “huge risks” in the health system for children with rare diseases, the Oireachtas health committee heard on Wednesday.

Two key reports on rare diseases, one costing €86,000 to commission, have been completed but not yet published, the committee also heard.

There are an estimated 300,000 people with rare diseases here. However Rare Diseases Ireland CEO Vicky McGrath said services are wholly inadequate.

“More than one in every 20 people is living with a rare condition in Ireland today. There are huge risks in the current system,” she said.

“People are sitting on waiting lists unnecessarily as they seek a diagnosis.” The problem is even worse for under-16s she said, with a 15 – 18 month wait even for some priority waiting lists.

Consultant geneticist with Children's Health Ireland, Dr Sally Ann Lynch, said time pressures mean they have to carefully assess who gets treatment.

She said: “It is very difficult to get on our waiting lists, we have to be quite strict. If the waiting lists get so bad they are unmanageable, and that is a risk in itself.” Outreach clinics in Cork and Limerick were closed due to lack of staffing, she said.

Answering questions from Social Democrat co-leader Roisin Shortall, Ms McGrath said a review of the national rare diseases plan 2014 - 2018 was completed by the Department of Health but not published.

And she told Fine Gael TD Colm Burke her organisation spoke in 2019 with Mazars, a consultancy body, for a report, which has also not yet been published.

Mr Burke said this report cost €86,123 and was submitted to the Department of Health in January 2020. It is a review of the HSE’s drug reimbursement process and would provide valuable insight, he said.

The committee heard Ireland has just three genetic consultants when estimates suggest 15 are needed. There are few genetic counsellors to support families post-diagnosis.

There is a global shortage, Ms McGrath said, but Ireland could copy successful training programmes in Northern Ireland, where there are six consultants.

“Our health system is failing the children of Ireland,” Ms McGrath said, and she suggested a cross-border project.

Ms McGrath told Sinn Féin spokesman on health David Cullinane the committee should support a change in the overall strategy.

She said: “We need to start looking at … how we can integrate with Europe and develop a system that meets the entire needs of the rare disease person.” 

Avril Daly, Retina International CEO and Vice President of Eurordis Rare Diseases Europe described how she had waited from 1998 to 2017 for a final diagnosis of her genetic condition.

This was funded by a charity, but she said it is not fair to expect families to fundraise for a diagnosis. She pointed to Finland as a good example of integrated policies.

Ms Daly told Neasa Hourigan, Green Party spokeswoman for health, that access to orphan drugs is another obstacle. The nickname comes from the lack of interest by pharmaceutical companies in developing drugs for tiny markets.

“We don’t have the registers to monitor them (rare diseases), that is a challenge for the HSE, there is a lack of genetic testing,” she said.

And Ms McGrath said a new report on access to these drugs shows just eight of the 47 drugs approved by the European Medicines Agency since 2016 are available in Ireland.

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