Living with rare diseases: ‘If you walk into a consultant, they use Google’

Gillian Stafford could completely lose her vision at any point, be it tomorrow or in five years-time, yet finds herself explaining her rare condition to doctors “over and over”.

As a result of retinitis pigmentosa, she has no peripheral vision, while just 10 per cent of her central vision remains.

The Trim, Co Meath woman is registered as blind and was told 10 years ago that she would eventually lose her sight completely.

“I’m living each day as it comes, it’s the only way I can live. I can’t predict the future so with the sight I have left, I try to get out and do things I want to do,” she said adding: “If it happens tomorrow, it happens tomorrow.”

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A conference attended by Minister for Health Stephen Donnelly was held at Farmleigh House in Dublin on Thursday to mark Rare Disease Day. Rare diseases are those which affect one in 2,000 individuals. An estimated 300,000 people in Ireland are living with a rare disease, of which there are more than 6,000 types.

Despite having signs of retinitis pigmentosa, including peripheral vision problems and balance issues, since the age of five, Ms Stafford remained undiagnosed with the rare disease until she turned 18.

Until that point she had been told she was short-sighted and, although relieved to finally have a diagnosis at the time, the battle for care and treatment did not come to a halt while her vision has progressively worsened.

Just two years ago, Ms Stafford was diagnosed with another rare disease, Bardet Biedl Syndrome, for which she is currently trying to get access to specialist consultants in the UK through the treatment abroad scheme.

“We’re being rejected on that but if I could get that one appointment in the UK, they’d do a treatment plan for me and then I could come back to Ireland and do my treatment here,” she said.

Ms Stafford said she waited for three years to see one consultant for her rare diseases, and estimates that she would be seen within a month in the UK.

She has found herself explaining what she is living with “over and over” to healthcare professionals in Ireland who “don’t know much about it”.

“If you walk into a consultant, they use Google or they’re asking you, the patient, to tell them because they don’t know about it.

“There’s only so much we can do,” she said, adding: “I don’t think the onus should be always on us.”

Across the last two years, Ms Stafford has seen six consultants, explaining her condition again and again, which she said is “frustrating” and “tiring”.

She is on the steering group for the National Rare Disease Strategy which was established in December and aims to improve and expand the care and treatment of patients with rare diseases.

She is one of approximately 300,000 people living with a rare disease in Ireland, many of whom have similar experiences, according to Vicky McGrath, the chief executive of Rare Diseases Ireland.

Speaking at Thursday’s conference, Ms McGrath said those living with rare diseases experience delays with diagnosis, “limited and disjointed access” to specialist expertise and treatments, and inadequate care in the community.

It takes five or six years on average to get a diagnosis, resulting in years of incorrectly managed treatment, which would not be accepted for other illnesses, she said.

She said the new strategy will only have an impact on the lived experience of the rare disease community if implementation is properly resourced and funded; places the rare disease community at its centre; and if its implementation is prioritised.

“For too long the care and treatment of people living with rare diseases in Ireland has been under-resourced; we have an opportunity now to put in place proper integrated care where it is most needed – in local communities,” she said.

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