Ahead of Rare Disease Day (February 29th) Patient Groups Come Together to Urge Action on Rare Diseases

- Ten priorities for Action in the forthcoming Programme for Government published in "An Easyguide for Rare Diseases and Consensus for Action", in presence of Minister for Health, Simon Harris, TD - 

Date of issue: Monday, February 24th 2020

This Saturday, February 29th, 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 (IPPOSI), assembled in Dublin's Manstion House to outline 10 key priorities for action by the next government, whatever its political make up. The 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 progreammes 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 word 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 the 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 Disease 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 offeres further sources of information and support for rare diseases.

You can download a PDF copy of the Guide below.

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 reclaimn 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 Northenr 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 Counsultants 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 lists 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 adequare genetic services means a delay in diagnosis, a lack of appropriate treatment, and probably disease progression. We need to tackle growing genetics waiting lists over the next two years, and increase the number of consultant genetics waiting lists over the nex 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 diseases - that's 30,000 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 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 inteventions.

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