Ireland Rare Disease
Charity

Ireland Rare Disease Stories

A new project created by the Northern Ireland Rare Disease Partnership (NIRDP) seeks to share the stories of locals living with rare diseases with the goal of raising awareness regarding the unique difficulties they must face in their day-to-day lives.

The Rare Stories project takes a deep dive into a wide range of issues surrounding rare diseases; from problems getting diagnosed, to tackling stereotypes, and getting around in places that simply aren’t designed to accommodate their needs and requirements.

Rare Disease Ireland

Patrick Toland, chief executive of the organization behind the project, said:

“The Rare Stories project is a testament to the resilience and strength of the rare disease community in Northern Ireland…

“We are sharing these emotive and educational stories.”

Rare diseases are said to affect more than 110,000 people in Northern Ireland alone, which is equal to a surprisingly common 1 in 17.

Twins who contributed to the Rare Stories project, Lucy Smyth and Zoe Buxton, live with a condition called Fibrodysplasia Ossificans Progressiva (FOP). FOP is one of the rarest diseases in the world and affects just 1 in 2 million people worldwide.

The County Antrim-born twins are 1 of only 3 sets of twins living with the condition, which causes a second skeleton to grow, eventually immobilizing them. Lucy and Zoe, who say their everyday lives are greatly impacted by the debilitating condition, wanted to share the story to help address the stigma that still exists when it comes to rare diseases. Zoe explained:

“Whenever we bump our muscles, a mass grows and as we grow older and the condition progresses, you’re like a human statue…

“It’s really important because people just don’t know enough about rare diseases and that sometimes goes for medical professionals as well,”

Lucy continued:

“I can’t do things like put my own socks on or brush my hair or anything like that, so obviously I have to depend on other people to do that, so it is quite tough…

“We’ve had times when we’ve needed hospital treatment and we tell them about our medical condition, and they just don’t know anything about it.”

The production of short films is part of plans to improve the lives of people living with rare diseases across the UK. In addition to the movie, Northern Ireland has also been assigned as the location of an adult and pediatric rare diseases consultant post in order to facilitate better coordination of rare disease treatment.

Early this year, in September, the Northern Ireland Rare Diseases Implementation Group published its first annual report, which suggested that increased awareness of rare diseases amongst healthcare professionals and improved access to treatment and drugs would go a long way in enhancing patients’ lives.

In a statement, the Department of Health said it was “committed to improving the lives of people living with a rare condition in Northern Ireland.”