SOME PATIENTS with rare diseases can be suffering between five and thirty years for a diagnosis and are often misdiagnosed, Thalassaemia International Federation (TIF) and Cyprus Alliance for Rare Disorders (CARD.) said yesterday on occasion of Rare Disease Day.
Between 50,000 and 60.000 thousand people in Cyprus are affected from one of about 6,000 rare diseases including thalassaemia, heart diseases, neurological, muscle and metabolic diseases. Eighty per cent or rare diseases are genetic.
In Europe, seven to eight per cent of the population – about 30 million people – are stricken with a rare disease. A disease is rare when it affects one person in every two thousand. Eighty per cent of rare diseases are genetic.
A significant 40 per cent of patients with rare diseases in Cyprus are misdiagnosed, while half of those who are diagnosed are not told what to expect from their disease. One in four end up going abroad for diagnosis and treatment.
Rare Diseases “almost always create chronic conditions, disability of various kinds and extend, and are all life-threatening,” said Androulla Eleftheriou from TIF and CARD.
CARD, which was established last year, called for equal rights in medical care access.
Drug treatment for rare diseases is often expensive. There is a need to create incentives for the creation of accessible specialised medication (‘orphan drugs’), Englezos said.
“Rare disorder patients in Cyprus feel abandoned, helpless and marginalised,” a member of CARD said.
Health Minister, Christos Patsalides, has pledged his support towards creating a national programme for rare disorders. “National strategy on rare diseases should be ready around May,” Patsalides said yesterday.
Challenges currently being faced by CARD include the absence of timely and accurate diagnosis, a lack of direct access to diagnostic means , quality of life being compromised by delayed diagnosis which can exacerbate pain and result in disability, scarce funding leading to lack of disease-specific treatment, and a lack of referral of patients to centres or experts that can provide necessary psychological support needed.
To get involved and for more information on CARD and any upcoming events, visit www.rarediseaseday.org or else email at [email protected]
