The Northern Ireland Rare Disease Partnership celebrate ten years of hard work and look to the next ten years

The Northern Ireland Rare Disease Partnership (NIRDP) welcomed colleagues and friends, past and present, as they celebrated 10 years of hard work as an accredited charity.

They reflected on the last ten years and how far they have come- including the establishment of a Rare Disease All Party Group at the Assembly- and looked to the next ten years and what they set to achieve- including connecting researchers with those living with rare disease to enhance treatments and care.

NIRDP is a “Not for Profit” Company and a NI Registered Charity. They bring together those living with a rare disease and organisations representing them.

They work with clinicians and other health professionals, researchers and producers of specialist medicines and equipment, health policymakers and academics.

Most recently, NIRDP have begun working with Ulster University who have launched a Rare Disease research department within all the university campuses.

Dr Stephanie Duguez spoke to the group regarding the university's research and their own research at Derry's Altnagelvin Hospital.

They were personally reaching out for people to help them with their research and liaison with them as they continue to push forward in helping the rare disease community. 

Rare diseases affect around 110,000 people in Northern Ireland.

On the rare spectrum conditions range from common rare, such as Hypermobile Ehlers Danlos Syndrome, which affects 1 in 2,000 to ultra-rare at the other end, Fibrodysplasia Ossificans Progressiva Syndrome (FOP) , which affects 1 in 2 million, with more than 6,000 other rare conditions in between.

Rare diseases are characterised by a wide diversity of symptoms and signs that vary not only from disease to disease but also from patient to patient suffering from the same disease.

Relatively common symptoms can often hide underlying rare diseases, leading to misdiagnosis.

Rare diseases not only affect the person diagnosed, they also impact families, friends, carers and society as a whole.

Speaking to the group MLA Mark H Durkan, who is also Chair of the APG on Rare Disease- established at the beginning of this year, said the NIRDP has been on a decade long journey of raising awareness of and providing
integral support to individuals living with rare diseases right across NI.

Mr Durkan said: "The process of securing a diagnosis as well as treatment for a rare disease can often prove a lonely and frustrating battle. 

"Living with any long-term health condition is extremely challenging, but for 1 in 17 people across Northern Ireland affected by a rare disease, that challenge can often seem insurmountable.  

"For individuals diagnosed with a rare disease, their carers and
their families, navigating conditions with very limited support and facing the
fear of the unknown, is a daily reality."

Mr Durkan said the Partnership has stepped in to fill the gaps within NI's health system, to bring people together within the rare disease community and help make that process a little less daunting. 

He continued: "The team has put rare disease firmly on the agenda and has been a vital cog in the progress of the Rare Disease Action Plan launched earlier this year. 

"This long overdue framework will go a long way toward achieving early diagnosis, effective treatment and providing patients and their families with support for their conditions."

The NIRDP worked tirelessly to establish the first All Party Group of its kind at Stormont which providse a platform to give a voice to often voiceless individuals. 

The SDLP MLA said he was honoured to be elected Chair of this group and looks forward to playing his part to ensure this underrepresented cohort are heard. 

Mr Durkan concluded: "I desperately await the return of an executive to deliver tangible action for individuals living with a rare disease. 

The APG will play an important role in the NI Rare Disease story, although the Rare Disease Partnership has been operating for a decade, now is
the time for the government to play catch up in that regard and deliver for the
rare disease population. 

"Our priorities going forward will focus on enacting the outworkings of the Rare Disease Action Plan and tailoring government strategies based on direct input from members living with rare conditions. Our involvement will assure that future policy is as effective as possible.

"The Rare Disease Partnership has undoubtedly been a critical support network for so many when they felt they had nowhere else to turn."

If you are affected by, or care for someone with, a rare condition in Northern Ireland, or you are concerned with rare condition issues as a clinician, health or social care professional, researcher, or industry member and want to know more, contact NIRDP via: https://nir dp.org.uk/contact/