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A NEW CENTRE to help to diagnose rare diseases among Irish patients has been opened in the Mater Hospital in Dublin.
The National Rare Diseases Office (NRDO) was opened this morning by Health Minister Leo Varadkar. He said that the office will seek to work closely with families affected by rare diseases because they are often “the leading experts in their diseases”.
A rare disease is defined as one which is life threatening or chronically debilitating and affects fewer than five individuals in 10,000. Some examples include haemophilia, muscular dystrophy or Batten’s Disease.
About 80% of rare diseases are genetic.
Although the diseases may individually be rare, collectively they are numerous and it’s estimated that about 6% of the population will be affected by a rare disease at some point in their lives.
As such, patients often find it difficult to get specialist treatment in Ireland. Some rare disease sufferers have even said that doctors have thought they were making their symptoms up.
The new National Rare Diseases Office will seek to help this in a number of ways. It intends to:
“A very large number of diseases are classed as rare, somewhere between 5,000 and 8,000, but they affect millions of people across Europe,” the minster said at today’s opening.
“We know that people living with a rare disease and their families, especially parents of young children, are often the leading experts in their diseases. It’s important that we recognise this and provide the necessary supports.”
The NRDO will be located at the Mater Misericordiae University Hospital until the new Childrens Hospital opens when it will be moved there.
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Delighted to hear this. Long overdue.
Here’s hoping it means families won’t have to travel abroad for expert treatment like most ED patients have to do presently.
They still won’t have a clue or any interest In treating Lyme disease patients they have made that very clear to us patients!
Laura, are there tests for Lyme in Ireland?
There are Mary, but they are expensive, and alot of doctors are extremely poor at spotting Lyme
Nice Photo opportunity for Leo the lollipop. Tweet says it all (campaign for Leo ).
I would love to think he really cares about his brief.
Your gp can order the test on the public system, costs u nothing more than the gp fee
My daughter has ehlers danlos syndrome and multi co morbid rare conditions including Chianti malformation POTS gastropareis. We have to travel to the UK for treatment regularly at great expense as there are no experts in her condition here. We get no support from the HSE. We know have to get neurosurgery in the US but have to delay until we can fundraise. This puts her life at risk. I contacted the rare diseases office but they were of no use to us. It needs to be more than a pr exercise
From multiple experience of the healthcare in this country & particularly in respect of rare disease I believe, that while it seems ideal that we be treated in Ireland (though with waiting lists & lack of funds makes this even harder), our population is too small & we need to go to centres of excellence for best care/diagnosis/treatment.
The EU Cross Border Directive which Ireland legislated for, opens the European healthcare system open to all of us. So, instead of waiting months to be diagnosed or treated here, we can now take control of our health & travel to the EU country of our choosing for our healthcare.
This country must open its eyes & realise that we have no health system, it’s not fit for purpose & needs radical overhaul & change of attitude amongst the profession themselves. There are good healthcare professionals but while they remain silent & so support negligence & misconduct, then I personally do not see how, when they cannot deal with simple diagnosis, how they will handle rare diseases!
Maria, I couldn’t agree with you more. Thank you for your excellent post
Will Chronic Lyme disease be classed as Rare.?…. How many of us are in the Country.??
There is a blood test but it’s difficult to get gp’s to do it, also it can be unreliable depending on when you got bitten and what stage you are at with Lyme, there is great reliable info on TicktalkIreland.org, best wishes!
Myself and twin boggied along in our wheelchairs! Both with a rare disease we go to UK for specialist oversight. Though Ireland pays the flight fares the overseas office do not pay accomadation or taxi fares to airport Dublin side or UK side. Depending how long we need to stay this costs a fortune! We have to hire powered wheelchairs over in UK. There are no consultants in our disease in Ireland and the primary care team in our area is almost ‘abusive’ in it’s care of us. Right now fighting 5 years for decent wheelchairs that meet our needs. What will an ‘office’ do….difficult to know, but unless Varadkar LISTENS. To those of us suffering in a country that cannot get wheelchairs for 62 year old twins, nor special shoes, nor physio…the list is endless…then I’m not sure how ‘the office’ is going to achieve much. He had a lovely welcome. But almost shot off afterwards. Not before my twin had a word in his ear, but you know, nothing will change for us! Various TDs have written to him about our wheelchairs all he does is quote some act which states he can’t tell HSE what to do! Oh yeh!
Good move…
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