Many patients with rare diseases experience long waits for diagnoses, survey finds

More than a third of people with rare diseases had to wait in excess of five years for a diagnosis of their condition, a new survey has found.

The research also found that a lack of awareness around rare diseases, particularly among GPs and emergency doctors, is one of the reasons behind delayed diagnoses.

Rare Disease Ireland (RDI) surveyed 111 people with rare conditions or their family members through an online questionnaire in October and November 2021.

While more than 90 per cent of respondents had received a diagnosis with a named rare condition, 21 per cent waited two to five years for it, 14 per cent waited between five and 10 years, while 23 per cent waited more than 10 years, the survey found.

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A rare disease is defined in Europe as a life-threatening or chronically debilitating disease affecting no more than five people per 10,000.

Cystic fibrosis, huntington’s disease, usher syndrome and spina bifida are all examples of rare diseases.

According to the survey, more than half, or 53 per cent, of diagnosed respondents had been investigated or treated for three or more conditions while seeking a diagnosis.

Some 48 per cent reported seeing between three and five specialists while seeking diagnosis, with one in four seeing six or more specialists.

Of the respondents who received treatment directly for their condition, almost one in five (19 per cent) reported that treatment was not available in Ireland due to waiting lists, with 19 per cent identifying Health Service Executive infrastructure or processes and 18 per cent a lack of reimbursement as the principal reasons.

Vicky McGrath, chief executive of RDI, said rare conditions are complex and getting a timely and accurate diagnosis “must be prioritised for action”.

“Patients are waiting too long for a diagnosis and are adding to waiting list numbers as they are referred from consultant to consultant, undergoing a battery of investigations and tests,” she said.

“Delays mean that not only does the person not get the care that they need, but that they may also be provided with unnecessary and potentially harmful treatment. Care is fragmented with patients or their guardians having to link up services and specialties themselves.”

RDI added that there was a need to urgently increase resources for genetic services, such as genetic testing, which is where a person’s DNA is tested for changes that could be linked to a rare disease, often used to help diagnose a condition.

Prof Eileen Treacy, national clinical lead of the rare diseases office at the HSE, said a model of care was published in 2019, with some recommendations from it being implemented already, while others are in the process of being implemented.

“A major recent development is that five major Irish academic HSE hospitals were approved to lead Irish rare disease networks to join 15 new additional European reference networks (ERNs) effective since January 1st, 2022,” she said.

“This is a very positive development for individuals and families affected with rare diseases.”