Ahead of Rare Disease Day (Feb 29), Patient Groups Publish Easyguide to Rare Diseases and Set Out Rare Disease Priorities for Programme for Government

This Saturday, February 29, marks Rare Disease Day – a rare day for rare diseases. Against this backdrop, a number of patient advocacy networks, among them Rare Diseases Ireland (RDI), Health Research Charities Ireland (HRCI) and the Irish Platform for Patient Organisations, Science & Industry (IPPOSI), have assembled in Dublin’s Mansion House today to outline 10 key priorities for action by the next government, whatever its political make-up. They include:

  • The extension of the newborn screening programme to more than double the number of rare diseases screened from 8 to a minimum of 20 in the short-term to enable treatment to commence at birth and to avoid unnecessary delays in care. In February 1966 newborn screening commenced in Ireland. The Irish programme was one of the first newborn screening programmes in the world; today, Ireland lags behind most EU countries.
  • Adequate staffing for genetic diagnostics and counselling – current clinical genetics staffing levels are among the worst in Europe. International standards determine that Ireland needs 15 consultant geneticists for our population. Ireland presently has only 4 such consultants. Likewise Ireland currently has only 5 (whole-time equivalent) genetic counsellors as opposed to the recommended 38 for our population of 4.8 million.
  • The full implementation of the National Rare Disease Plan and additional resources for National Centres of Expertise and European Reference Networks – a series of networks that bring together leading experts on rare diseases across Europe.
  • The development of a national patient registries strategy that would capture disease demographics, clinical outcomes and survival rates, as well as support patient recruitment for clinical research.
  • Better funding support for patient groups advocating on behalf of patients including Rare Diseases Ireland.

To mark Rare Disease Day, An Easyguide to Rare Diseases in Ireland was launched at the event in the presence of the Minister for Health, Simon Harris TD. The guide has been produced by the Rare Disease Taskforce, which incorporates RDI, HRCI and IPPOSI. The guide provides information on rare diseases in Ireland, insights on living with a rare disease through personal testimonies, as well as offers further sources of information and support for rare diseases.

The Easyguide together with the 10 Priorities for the Next Programme for Government can be viewed here www.rdi.ie/rdeasyguide-2020/

Expanding Newborn Screening Programme & Access to New Therapies
Philip Watt, Chair of the Rare Disease Taskforce, stated:
“At the moment, parents of newborns in Ireland are only offered the opportunity to have their baby tested for eight conditions, all of which are rare diseases, through the ‘heel-prick test’. Early diagnosis and treatment can result in dramatic health gain for an increasing number of people with rare diseases. A lack of diagnosis at birth and delayed treatment can have significant adverse consequences. When newborn screening was introduced in Ireland in 1966 we were at the forefront of such screening worldwide. Now we lag well behind. The average number of diseases screened for at birth in Europe is 20, while in some States in the United States, 50 is the norm. With prioritisation in the Programme for Government, Ireland can reclaim this lost ground and aim for at least 20 screened conditions in the short term.

“The impact of Brexit on services and health research for those with a rare disease remains a key concern. It is incumbent on the authorities in Belfast and Dublin to ensure that people with rare diseases and their families are not disadvantaged by Brexit, north and south. The Rare Disease Taskforce will continue to work in partnership with the Northern Ireland Rare Disease Partnership in 2020 and continue to optimise cooperation on the island of Ireland to ensure that no one is left behind.”

Need to Increase Number of Genetic Consultants and Counsellors
Vicky McGrath, CEO, Rare Diseases Ireland, added:
“Ireland lags well behind our neighbours in Northern Ireland, the UK and Europe in resourcing genetic services. The Clinical Medical Genetics waiting list was 3,021 in December 2019, an increase of 14.5 per cent on the same figure for December 2018. Over one third of these patients have been on the waiting list for more than a year. A failure to provide adequate genetic services means a delay in diagnosis, a lack of appropriate treatment, and probable disease progression. We need to tackle growing genetics waiting lists over the next two years, and increase the number of consultant geneticists from 4 to 15. Likewise, genetic counselling services are enormously under-resourced and must be addressed in the short-term; it is inhumane to provide a genetic diagnosis over the phone or via post with no follow-up counselling services, as is happening today.”

Rare Diseases in Ireland – did you know?

  1. A rare disease is a disease that affects fewer than 1 in every 2,000 people
  2. There are an estimated 6-8,000 rare diseases
  3. Around six per cent of the population in Ireland is estimated to have a rare disease – that’s 300,000 people – with 72 per cent of rare diseases having a genetic origin
  4. It is estimated that there are 350 million people globally with a rare disease, more than double the number of people affected by AIDS and cancer combined
  5. 70 per cent of rare diseases first appear in childhood and are life-long. At least 4 per cent of children born in Ireland in the year 2000 were diagnosed with a rare disease by age 17
  6. Rare diseases are associated with multiple impairments including cognitive, developmental, intellectual, mental, physical and sensory, or some combination of these symptoms, and the patient’s quality of life is often compromised by the lack or loss of independence
  7. Rare diseases are chronic, progressive, degenerative, and often life-threatening. For most rare diseases, there is no cure and the management of symptoms can be hampered by a lack of sufficient knowledge or a failure to translate knowledge into new and innovative therapies and interventions

For more information on rare diseases in Ireland, visit www.rdi.ie