Healthcare system must be inclusive of those with rare diseases

Relatively common symptoms can hide underlying rare diseases — leading to misdiagnosis and treatment delay.

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It is estimated that 300,000 people are living with rare diseases in Ireland today. Despite this, our healthcare system is designed for those living with common chronic diseases.

Many types of rare diseases

A rare disease is defined in accordance with EU rules as a condition that affects less than 1 in 2,000 people. Rare diseases that we often hear about include childhood cancers, cystic fibrosis, epilepsy, meningococcal meningitis, PKU (phenylketonuria), sickle cell anaemia and spina bifida.

There are however over 6,000 different rare diseases known today, and 85% of these are considered ultra-rare, affecting less than one per million population. Genetics are the root cause of 72% of rare diseases with infections, allergies and environmental causes implicated as the causes of non-genetic rare diseases.

Children living with rare diseases have an enormous impact on our healthcare system.

Often misdiagnosed

Rare diseases are characterised by a wide range of symptoms that vary from disease to disease and from person to person with the same rare disease. Relatively common symptoms can hide underlying rare diseases — leading to misdiagnosis and treatment delay. Due to small numbers, medical expertise and knowledge can be hard to find, especially with our relatively small population.

With early symptom onset, 70% of rare diseases appear first in childhood. They are typically progressive, degenerative and life-long conditions, sometimes causing premature death. A recent publication states that 4.2% of children born in Ireland (in the year 2000) were diagnosed with a rare disease before age 18. Sadly, almost 12% of these had died before reaching adulthood. In fact, among children who died under the age of 15 years, almost 60% had been previously diagnosed with a rare disease.

Impact on young people

Children living with rare diseases have an enormous impact on our healthcare system. Those born in 2000 and living with rare diseases used over half of hospital bed days from birth to their 18th birthday and 60% of teenage bed days — as compared to their contemporaries not living with a rare disease — despite representing only 4.2% of those born in that year.

Today, not many rare diseases have treatments. However, as awareness increases and research continues, there is increased investment in and successful development of new rare disease therapies and treatments. In 2021, the first curative gene therapy was approved for use in Ireland. There is reason for optimism.