[WATCH] National register for rare diseases launched

Health parliamentary secretary launches register for rare diseases

Health parliamentary secretary Chris Fearne announced that a register for rare disease was being launched.

Speaking at a press conference held at Mater Dei Hospital earlier today, on occasion of rare diseases, Fearne said that rare diseases affected some 25,000 people in Malta.

“There are some 6,000 to 7,000 rare diseases around the world, and they are so classified because they affect about 1 in 2,000 people around the world,” he said, adding that many of these illnesses are genetic.

Fearne explained that the register would allow specialists and researchers to keep a record of rare diseases and their occurrence.

“The register will allow us to adapt treatments and procedures available, and it will professionals in researching these illnesses and the necessary cures,” he said.

Fearne added that the health department was also in talks with the data protection commissioner to allow networking between patients and various NGOs and support networks.

Chairperson of the hospital’s pathology department Chris Barbara explained that some 370 people worked in the department with some 22,000 tests carried out every day and some 8million tests carried out every year.

“Many of these tests can make the difference between life and death,” he said, adding that sadly, in some rare diseases, diagnoses arrived too late for treatments to make a difference.

Fearne also explained that the hospital would also begin offering Neo-natal screening later on to check for issues including thyroid issues, heart problems as well as hearing conditions later this year.

“Screening for these conditions is important because it would be better to know about certain conditions, including rare diseases at an earlier stage to ensure the best treatment possible,” he said.

Fearne also explained that Malta will be participating in European reference networks to be able to share advice and knowledge about rare diseases and the best treatments available.

Speaking at the conference, chairperson of the Marigold Foundation, Michelle Muscat said that rare diseases had in the past presented a vacuum, with sufferers never quite finding someone to confide in and diagnoses arriving too late for some.

“NGOs themselves often don’t know how to give advice to these people given how specific these conditions are,” she said.

Muscat also referred to the support group for people with rare diseases launched by the Marigold foundation, and said that the issue remained how to provide information and support for families as efficiently as possible.

She further appealed to GPs and family doctors to offer direction to sufferers and refer them to the various support groups and professionals about rare diseases.