Newborn babies will be screened for rare diseases and conditions under a new pilot project to be launched later this month, the president of the National Alliance for Rare Diseases Support Michelle Muscat announced.
Further details of the pilot immunology neonatal screening project will be revealed during the official launch to be held later this month, Ms Muscat said during a press conference held at Mater Dei Hospital, to launch the alliance's new awareness campaign.
Ms Muscat, the wife of former Prime Minister Joseph Muscat, said that February was the month dedicated to rare diseases. The pilot screening project would ensure that babies with rare conditions would get an early diagnosis to ensure better treatment.
In Malta, every day there are 25–30,000 people that wake up fighting a rare disease.
When it came to rare diseases, she said, diagnosis was always one of the main issues as doctors struggled to reach a conclusion. She said that this year the campaign of the alliance, in collaboration with the Marigold Foundation which she chairs, was titled "Where every patient counts".
The aim was to increase awareness amongst the public and healthcare professionals, including doctors, about rare diseases. Posters and leaflets would be distributed in clinics and hospitals.
What is a rare disease?
A disease or disorder is defined as rare in Europe when it affects fewer than one in 2,000 people. 25% of all known and documented diseases occurring in humans may be classified as rare.
In Malta, there are 25,000 – 30,000 people who wake up daily fighting a rare disease. Most of these rare diseases are genetic and chronic. It is estimated that 80% are genetic. Symptoms of rare diseases may appear at birth or in childhood, but sometimes appear once adulthood is reached.
Ms Muscat said that in 2016, the National Register on Rare Diseases was set up. The next step was to encourage more doctors to register patients and to refer them to the alliance for support. The alliance currently has some 200 members.
She said that a soiree fundraiser would be held on February 29 – a rare day that came every four years on a leap year. During the event, people who supported the cause would be awarded for their sterling work.