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"Working together we can secure the best use of scarce expertise and resources, maximising the health gain for all those with rare conditions" Alastair Kent OBE, Chair of RDUK


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Northern Ireland Reception

4th March 2010

On a sunny afternoon in Belfast a wide range of stakeholders with an interest in rare diseases gathered in Stormont's Long Gallery to mark Rare Disease Day 2010. This was the first time the Day had been marked at the Assembly and there was a significant level of interest in the event. Around 120 delegates attended to raise awareness of rare diseases and there was also a good level of interest from MLAs who had come to learn more and to meet their constituents. The meeting of the Health Committee had been postponed for an hour to allow members to attend, which as Jim Wells MLA, commented is not a regular occurrence! MLAs in attendance included Paul Butler, Kieran Deeny, Nigel Dodds, Sam Gardiner, Dolores Kelly, Billy Leonard, Anna Lo, Trevor Lunn, Kieran McCarthy, David McClarty, Conall McDevitt, Alasdair McDonnell, Ian Paisley Jr, Mervyn Storey, Brian Wilson and of course the hosts Lord Browne and Jim Wells MLAs.

Please see the event report below or click here to see more photos of the Day.

Rare Disease UK are very grateful to all the delegates and MLAs who attended and helped to make the reception such a success. We would also like to thank the hosts Lord Browne and Jim Wells MLAs and all the speakers for their contributions.  

Speakers at the reception (from left to right): Lord Browne MLA, Alastair Kent, Eibhlin Mulroe, Dr Fiona Stewart, Jim Wells MLA, Debbie Hoey

Event report

After welcoming the guests and MLAs, Lord Browne MLA, co-host of the reception said that he first became aware of Rare Disease Day when he attended the 2009 Rare Disease Day reception at Westminster.  Lord Browne expressed his delight that Rare Disease Day was this year also being celebrated at the Northern Ireland Assembly and thanked Rare Disease UK for making it possible.


Lord Browne MLA

Lord Browne said that the high turnout reflects the level of interest and the number of people affected by rare diseases. Lord Browne was reminded of the importance of rare disease services for local families when, the week previously, he attended the Rare Disease Day event at Belfast City Hall organised by the Cavan Tommy Hoey Trust.  The event bought home the impact of rare diseases on families and Lord Browne said he was delighted to see so many families in attendance at the event.

Lord Browne raised the importance of tackling the misconception that rare diseases are rare and not an important issue. There are more than 6000 rare diseases and over 100,000 people in Northern Ireland are affected by a rare condition. Lord Browne reminded all MLAs that they will have many constituents either with a rare disease or family members. When planning health services in Northern Ireland, it is crucial that rare diseases are not overlooked.

Finally, Lord Browne thanked Health Committee for recognising the importance of the event by delaying the start of their session so that members could attend the meeting.

Lord Browne introduced Jim Wells MLA, Chair of the Health Committee who explained that the Committee changed the time of the meeting as it was felt that the event was very important  and in order for the MLAs to meet their constituents in attendance.

Right: Jim Wells MLA


Mr Wells admitted that a couple of months previously he knew very little about rare diseases but after an enlightening meeting with Dr Fiona Stewart and Stephen Nutt from Rare Disease UK, he discovered that he is actually a carrier of a rare genetic condition - retinitis pigmentosa. Not only was it enlightening that this condition was rare, Mr Wells was surprised to hear that other conditions such as cystic fibrosis also fell into the category of “rare”.

Mr Wells expressed his pleasure to be able to hear directly from patients and families at the reception and that he was delighted to see an unusually high number of MLAs present. He concluded by saying that he believes the cause of rare diseases in Northern Ireland will have moved on as a result of the reception.

The next speaker, Alastair Kent, Chair of Rare Disease UK began by thanking the MLAs in attendance for giving up their time to mark the occasion. Alastair expressed his pleasure at holding the first Rare Disease Day event at the Assembly and pointed out that there was also a successful event at Belfast City Hall hosted by the Lord Mayor Cllr Naomi Long MLA and organised by the Cavan Tommy Hoey Trust the week previously and Rare Disease UK was delighted to participate in the event.

Alastair emphasised that rare diseases should no longer be ignored due to the misconception that they affect few people, are expensive and incurable. In fact rare diseases affect 1 in 17 people and there are over 6000 rare diseases with more being identified every week. Over 100,000 people in Northern Ireland are affected by a rare disease; equivalent to the population of Newtownabbey and Omagh combined. Alastair emphasised that if there was a public health issue causing premature death and having a significant impact on the health and quality of life of the population of those towns there would be serious public outcry and there would be serious attempts to address the problem in a systematic way; so why not for rare diseases?

Alastair Kent

Patients with rare diseases are often the frequent flyers of the NHS although frequently a lacks of a proper strategy or integrated approach to care results in patients rattling around the NHS. Lots of money is being spent and RDUK is calling for it to be spend more effectively – working smarter. Alastair continued, if something can be done it should be in a timely and user friendly way.

Alastair highlighted some positive foundations in Northern Ireland; integrated health and social care means that opportunities for clashing over budgets is minimised. A practical example of good practice is the sharing between the genetics departments here and Wales in testing cardiac symptoms. Support given to traveller community in Northern Ireland provides an excellent example of a focused and dedicated service to group suffering from stigma and social isolation. Alastair also highlighted the European Congenital Abnormality register coordinated by Helen Dolk based in Northern Ireland which provides a framework for opportunities for high quality research.

The founding principle of NHS is equity. RDUK is calling on all four NHSs in UK to respond to the legitimate expectation of rare disease patients to be able to access high quality services that reflect current scientific knowledge. Also the NHS should recognise the need for systematically creating frameworks for high quality research is crucial to ensure that rare conditions currently without a cure don’t remain so.

The fourth speaker, Debbie Hoey, gave a moving talk on her family’s experience of rare disease following her son, Cavan, being struck down with two rare diseases in October 2008.

 Left:Debbie Hoey

Debbie explained that Cavan became ill with what was assumed to be a common virus. Cavan didn’t get better and the local hospital diagnosed him with glandular fever. After little sign of improvement blood was sent to great Ormond Street and Bristol hospitals. Eventually the family was informed that Cavan had Epstein Barr Virus and Hemophagocytic Lymphohistiocytosis  (HLH)  neither of which she had heard of. Debbie explained that instead of fighting infections, Cavan’s blood turned on him damaging his organs. Cavan had two seizures and was given 48 hours to pull through. It didn’t look like he was going to survive, but Cavan is a fighter and he pulled through.

Cavan was diagnosed with another rare disease, XLP. XLP is known to only affect 100 families worldwide and 30 in Europe.  It affects boys in families and carried through female chromosome. It leads to an inability to fight infections and 70% of boys affected don’t live to see their 10th birthday unless treated. No cures have been developed except a bone marrow transplant to replace faulty immune system.


Above: Cavan at the reception

At one stage Cavan weighed only 30 pounds and effectively returned to infancy. Following a bone marrow transplant and a long recovery Cavan is doing a lot better.

Debbie said that you never know when a rare disease is going to affect you. Their family went from a normal family to one lost in a world of blood counts medicines and terminology. She paid tribute to the families affected by rare diseases - “All of us survivors”.

Debbie called on the government to make rare diseases a priority and spoke of the imperative of raising awareness and working together. The Cavan Tommy Hoey Trust will be aiming to raise awareness and support all those with a rare disease.

Following Debbie was Dr Fiona Stewart, Consultant in Medical Genetics at Belfast City Hospital. Fiona spoke about the focus of Rare Disease Day 2010 – research.  Research can take many forms, she explained; as some of the disorders are very rare to do research you have to fully understand the disease itself. This necessitates working with colleagues in rest of UK, the Republic, Europe and internationally.

Dr Stewart raised one practical example of a difficulty currently – the disease registry. To input anonymised data you have to fill a full ethics report of approximately 40 pages which is extremely cumbersome when there are only one or two patients, especially having to go through same process with every patient with a rare disease. Dr Stewart called for a more flexible system where the proportion of paperwork took into account the small numbers involved.

On the other end of spectrum is research to find cures and treatment. Dr Stewart said that she knows some people in the audience have benefitted from clinical trials and the collaborative working of pharma and colleagues in England to ensure access to life improving trials.

Right: Dr Fiona Stewart

Dr Stewart stressed that just because a rare disease isn’t curable it doesn’t mean that treatment can’t be optimised.  In this respect multidisciplinary clinics are extremely beneficial – a clinic was recently established Fabry’s disease which won’t cost extra but should improve quality of service for patients with the disease.

Finally Dr Stewart emphasised that rare diseases are not that rare and it is important for patients to access quality equitable services. The Department of Health and Social Services need to recognise that we can do a lot for rare disease patients and their families.

Eibhlin Mulroe, the Chief Executive of IPPOSI – the Irish Platform for Patient Organisations, Science and Industry, spoke next. IPPOSI was founded to bringing stakeholders together to discuss issue and gain consensus. Collaborative working is crucial to gain access to therapies for unmet needs such as rare diseases.


Eibhlin spoke about the European Commission Communication in November 2008 which recommended that member states develop national plans or strategies. The government in the Republic of Ireland is currently preparing a plan which encompasses things such as centres of expertise and registries for rare diseases.

Left: Eibhlin Mulroe

Eibhlin stressed the importance of hearing the experience of patients and their families. Families should not be forgotten especially as 80% of rare conditions are genetic.

Opportunities for collaboration between the Republic and Northern Ireland should be fostered. Potential areas of collaboration include working together on clinical research and centres of expertise.  One example of a cross border initiative is the Gene Library Ireland where 10,000 samples from healthy volunteers were collected for gene study.  It is also an example of collaboration between patients, researchers and industry which is important in the field of rare disease.

Go to event photos