More than 140,000 people are affected by rare diseases in the Republic. To be considered rare, a disease must have an incidence of no more than five in 10,000 people. Some of these diseases are relatively well known such as cystic fibrosis, Duchene muscular dystrophy and Huntingdon’s disease. Others are less well known like cystinosis, Pompe disease, sarcoidosis and retinitis pigmentosa.
In the Republic, 6-8 per cent of the population are or will be at some time in their lives affected by a rare disease. Between 6,000 and 7,000 rare diseases have been identified worldwide and it has been estimated that a further five are described each week. Most cancers, including all cancers affecting children, are rare diseases.
Because so little is known about many rare diseases, accurate diagnosis is often made late into the disease, often when a patient has already been treated for months or even years for another more common disease.
Once an accurate diagnosis has been made, patients may have difficulty sourcing appropriate information about the condition and identifying qualified specialists.
Access to treatment can also be a big hurdle because treatments for rare diseases are often prohibitively expensive and relatively inaccessible because pharmaceutical companies do not consider it economically viable to trade in these medicines.