Breaking : According to a report, many people with uncommon diseases had to wait a long time for a diagnosis | Hot News

According to a new poll, more than a third of persons with uncommon diseases had to wait more than five years for a diagnosis.

One of the causes for delayed diagnoses, according to the study, is a lack of awareness of rare diseases, particularly among GPs and emergency doctors.

In October and November 2021, Rare Disease Ireland (RDI) conducted an online survey of 111 people with rare diseases or their family members.

According to the poll, while more than 90% of respondents had obtained a diagnosis for a named rare ailment, 21% waited two to five years for it, 14% waited five to ten years, and 23% waited more than ten years.

In Europe, a rare disease is defined as a life-threatening or persistently debilitating illness that affects fewer than five people per 10,000 people.

Rare disorders include cystic fibrosis, Huntington's disease, Usher syndrome, and spina bifida.

More than half of diagnosed respondents (53%) had been investigated or treated for three or more disorders while seeking a diagnosis, according to the poll.

When it came to getting a diagnosis, 48% said they saw three to five specialists, with one in four saying they saw six or more.

Nearly one-fifth (19%) of those who received direct treatment for their ailment said that therapy was not available in Ireland due to waiting lists, with 19% citing Health Service Executive infrastructure or processes and 18% citing a lack of funding as the main reasons.

Rare diseases are challenging, according to Vicky McGrath, CEO of RDI, and establishing a prompt and accurate diagnosis "must be prioritised for action."

"Patients are waiting far too long for a diagnosis and, as they are referred from consultant to consultant, through a battery of investigations and testing," she said.

"Delays imply that the person may not only not receive the care they require, but they may also receive unnecessary and perhaps dangerous therapy." Patients or their guardians must connect services and specialisations themselves because care is fragmented."

RDI went on to say that there was a pressing need to boost funding for genetic services including genetic testing, which involves examining a person's DNA for mutations that could be linked to a rare disease and is frequently used to identify a condition.

Prof Eileen Treacy, national clinical head of the HSE's rare illnesses unit, said a model of care was published in 2019 and that some of its suggestions have already been adopted, while others are in the works.

"A significant recent development is the approval of five major Irish academic HSE hospitals to lead Irish rare disease networks to join 15 new additional European reference networks (ERNs) from January 1st, 2022," she said.

"This is a huge step forward for those living with rare diseases and their families."

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