Almost one-quarter of people with rare diseases in Ireland had to wait over 10 years for a diagnosis of their condition, a new survey has revealed.

According to the findings, while 92% of those surveyed had received a diagnosis with a named rare condition, the journey to that point had taken a long time. Some 21% had been waiting for two to five years, 14% had waited for between five and 10 years and 23% had waited for over 10 years.

Some 53% had been assessed and/or treated for three or more conditions on their journey to a diagnosis, while 73% had seen three or more consultants in different specialties.

A disease is considered rare if it affects less than one in 2,000 people. There are currently up to 8,000 defined rare diseases and over 70% of these are genetic in origin.

Around one in every 17 people live with a rare disease. An estimated 300,000 people in Ireland are currently affected and about 70% of rare diseases start to show up in childhood.

Rare Diseases Ireland has published a research report on the healthcare experiences of people living with rare diseases. This is based on a survey of 111 people with rare diseases and their family members.

The report noted that genetic testing “is a cornerstone of diagnosis and treatment for many rare conditions…and was the route to definitive diagnosis for many”.

Some 64% of respondents had experience of genetic testing and in 77% of these cases, this testing provided a definitive diagnosis. However, there was a big difference between genetic testing in the public system versus the private system.

The survey found that 75% of respondents received genetic test results within three months when accessed privately compared with 38% in the public system. Furthermore, 18% of respondents reported waiting more than two years for genetic test results through the public system. In contrast, all test results were delivered within two years within the private system.

When it came to receiving these potentially life-changing results, just over half were delivered in person, with 25% delivered by phone and 23% delivered via letter or email.

Rare conditions tend to be complex in nature and this was reflected in that fact that respondents reported that on average, five areas of their health were affected, with neuromuscular/neurology (43%), ophthalmology (35%), rheumatology (30%), immunology (26%), cardiology (25%), gastroenterology (25%) and speech and language (25%) being the most common areas of health affected.

Among those who received treatment directly related to their rare condition, 84% were given treatment to relieve symptoms, while 48% were given treatment to slow down or stop deterioration of their rare disease.

Just 5% were given a treatment to prevent a condition, while 11% were given a treatment to cure the condition.

Some 19% reported that treatment was not available in Ireland due to waiting lists, with 19% identifying HSE infrastructure/processes and 18% a lack of reimbursement as the principal reasons.

While 62% had a specialist managing their care who had expertise in their condition, 31% said that there is no specialist in Ireland with the expertise required. Care was provided through an expert-led multidisciplinary care centre for just 44% of respondents.

Meanwhile, 13% had travelled internationally for a diagnosis, 18% had gone abroad for an assessment, while 11% had received care abroad.

In relation to medical visits, 24% engage with GP/hospital services up to three times per year, while 30% engage more than 10 times per year.

When it comes to the Covid pandemic, 28% feel that their rare condition has deteriorated substantially during this time.

While acknowledging the need to devote significant resources to the pandemic, the CEO of Rare Diseases Ireland, Vicky McGrath, insisted that “we now need to get the rest of our health services back on track and level the health playing field”.

“Getting a timely and accurate diagnosis is far from easy and 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.

“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,” she commented.

She insisted that the resourcing of genetic services “is key to addressing the “tortuous diagnostic journey for many”.

“Strategic development of genetic services must be a priority for leadership at the Department of Health and the HSE. Their repeated failure to allocate adequate resources and appoint someone to the role of HSE National Director of National Genetic and Genomic Medicine Network is enormously frustrating,” Ms McGrath said.

She also highlighted the HSE’s inability to attract candidates to fill open consultant geneticist positions at Children’s Health Ireland in Crumlin, which is increasing the burden on those currently working in genetic services.

“Only four of the six available consultant geneticist roles at the hospital are currently filled. The effect of these vacancies is clear, with 4,029 on the clinical medical genetics waiting list as of December 23, 2021, up from 3,021 on December 19, 2019 figures,” she noted.

Ms McGrath also insisted that where expertise is not available in Ireland, patients should be given the opportunity to avail of expert care abroad.

Responding to the report, the HSE’s national clinical lead at the National Rare Diseases Office, Prof Eileen Treacy, said that a major recent development in this area is that five major Irish academic HSE hospitals have been approved to lead Irish Rare Disease Networks to join 15 new (additional) European Reference Networks (ERNs), effective since January 1, 2022.

“This is a very positive development for individuals and families affected with rare diseases for the enhanced cross border provision of highly specialised/rare disease services to facilitate the mobility of expertise, virtually or physically, and develop and share information, knowledge and best practice and foster developments of the diagnosis and multidisciplinary treatment of rare diseases.

“Implementation and integration of these centres of expertise into the ERNs will be pivotal to and drive innovation, training and clinical research for highly specialised care in collaboration with the established momentum of the ERN model, which incorporates the most talented clinicians and investigators in the European Community,” she commented.

The report, Rare Reality: Living with a Rare Disease in Ireland – Healthcare Experiences, can be viewed here.