An Open Letter – a Rare Disease Day post

Rare Disease Day 2012“The price of greatness is responsibility.” ~Winston Churchill

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Below is a copy of a letter I sent to Peter Robinson, the First Minister for Northern Ireland.  In it I hope that I simply reminded him of his responisbility as a political leader.

… and, in case it doesn’t work on him, I also sent it to Martin McGuinness – the Deputy First Minister, every MLA for Newry & Armagh, the Mayor of Armagh City, the Deputy Mayor of Armagh City and each and every local Councillor for my area.

Maybe one of them will realise, to use another quote other than Churchill’s, that with great power comes great responsibility. If it is good enough for Spider-Man then it should be good enough for the men and woman who have the power to change our lives for the better … and rather than bickering about party politics, or which religion is better in a country so small, they can actually DO something!

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Peter Robinson

First Minister

The Northern Ireland Executive

Parliament Buildings






23 February 2012


Dear Peter,

Rare Disease Day 2012, the launch of the Northern Ireland Rare Disease Partnership, and the UK rare disease plan

I am writing to you as my First Minister in advance of international Rare Disease Day 2012, which this year takes place on the 29th of February. On

that day a new organisation, the Northern Ireland Rare Disease Partnership, which champions the interests of patients with rare diseases will be formally launched. In addition, the Patient and Client Council will be publishing a report on experiences of obtaining a diagnosis of a rare disease in Northern Ireland will be launched.

I understand that you have been invited to an event at the Pavilion on Stormont Estate at 11:30am to 2.00 pm and I urge you to attend this event (see bottom of the letter for further details).

I am someone who lives with, though tries not to suffer from, a couple of rare diseases – namely congenital myasthenic syndrome and congenital muscular myopathy – so personally understand just how all consuming such diseases can be in someone’s life.  Rare Disease Day, simply by raising awareness of the fact that there ARE these debilitating illnesses out there, along with the Northern Ireland Rare Disease Partnership and the Patient and Client Council, will bring hope where previously there may have been none.

The Department of Health, Social Services and Public Safety has committed to working with the UK Government and the other devolved  administrations to develop a UK plan to facilitate research and to improve health service provision for people affected by rare diseases – some 100,000 people in Northern Ireland alone. The plan was originally due to be launched for public consultation before the end of 2011. It was then announced that the plan would be launched early in the New Year. I am concerned that further delay to the launch of the public consultation could hinder the momentum of the work that has been done so far, and result in further delay to the much needed plan to improve the lives of people living with rare diseases in Northern Ireland.

The theme for Rare Disease Day 2012 is “solidarity” and the slogan “rare but strong together”. This reflects the reality that even though there are

over 6,000 different rare diseases, these will affect 1 in 17 people in Northern Ireland at some point in their lives; and those affected face common problems in getting the care, support and treatment they need. A report, which the Patient and Client Council will be launching on Rare Disease Day, highlights some of these issues in Northern Ireland:

·        29% of patients wait between 1 and 5 years for a correct diagnosis and over 20% wait over 5 years;

·        34% of patients are misdiagnosed – 20% of which received inappropriate treatment as a result;

·        Patients have to attend multiple appointments with different health professionals to obtain a diagnosis and it is frequently a battle to do


·        57% of people caring for a person with a rare disease do so for more than 20 hours a day;

·        Over 40% of patients described their experience of the health and social care service in Northern Ireland as “poor” or “very poor”, and nearly a quarter described it as “average”. Only a third of patients described their experience as “very good” or “excellent”;

·        Patients also reported feeling ignored by doctors, and that there is a lack of information and support for rare disease patients.

An effective UK  plan for rare diseases, fully implemented in Northern Ireland, would help address these issues.

I request that you please write to the Minister for Health, Social Services and Public Safety to push for the launch of the public consultation on a UK rare disease plan without further delay. I hope that you will also attend the event at the Pavillion on Rare Disease Day.

Looking ahead, I hope I can also count on your support to ensure the effective implementation of the plan in practice to make a real difference to the lives of people living with rare diseases in Northern Ireland.

I look forward to your response.

Yours sincerely,

Jay Faulkner



Please note:

For more information on the launch of the Northern Ireland Rare Disease Partnership and the Patient and Client Council report, please contact

Sarah McCandless at the Patient and Client Council: 028 9032 1230.


If you require any further information about the Northern Ireland Rare Disease Partnership, please contact the Chair, Christine Collins: 07843256442.


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If you are affected by a rare disease, or you know someone who is, please feel free to contact me if you would like to share your experience on here as that would be more than welcome!

@rarediseaseday #raredisease