"Rare doesn't mean rare, this affects thousands of people"

Mayor Warke welcomed the Northern Ireland Rare Disease Partnership to the Guildhall as they celebrated 10 years of hard work and commitment to those living with rare diseases.

Rhoda Walker, Chair of NIRDP, described the charity as a "small organisation with a massive heart" as she and Edel Rogan, NIRDP Community Activator, highlighted the selfless work of everyone involved with the charity.

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 and Dr Bill Duddy 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.

Rhoda said: "Our vision is that no one is disadvantaged because of the rarity of their condition.

"We aim to work constructively to find practical ways of improving the quality of life, treatment and care for those with rare diseases in Northern Ireland.

"To do this, we work closely with the Northern Ireland Department of Health, the Health and Social Care Board, Public Health Agency and the Patient Client Council, The Patient Representative Organisations in the UK, the Republic of Ireland and Europe as well as with a wide range of condition-specific groups and organisations.

"We want to increase our network of interested organisations and people. Rare doesn't mean rare. Rare diseases affect thousands of people. 

"There are also a massive amount of rare diseases affecting so many people and they don't always know where to turn. There has to be more awareness and support out there. 

"We need to get our voice out there and let people know we are here to help; regionally, nationally and globally. 

"We have come so far over the last ten years and I am honoured to have been chair for these last few years."

Mayor Warke pictured with Chair of NIRDP, Rhoda Walker and NIRDP's members, volunteers and supporters

NIRDP volunteer and advisor, Sandra Campbell, also addressed the group, telling Jennifer and baby Lewis' story which was recently reported by the Derry News.

Baby Lewis lives with an ectopic thyroid and congenital hyperthyroidism. Lewis and his mum, Jennifer, are fighting for Lewis' condition to be recognised as a rare disease by Stormont as his specific condition is statistically found in 1 in 100,000 to 1 in 300,000 people.

Baby Lewis, at only 18 months old, is the NIRDP's youngest and newest member.

The group is set to appoint its first CEO, Patrick Toland, this Spring as they continue to grow from strength to strength.

They aim to expand their network, reaching and helping more people in Derry and across the country.

The NIRDP continues to fight tirelessly for awareness, research, funds and medicinal care for everyone living with a rare disease.

The group is set to appoint its first CEO as they continue to grow from strength to strength.

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://nirdp.org.uk/contact/