About 50 per cent of the 8,000 diseases classified as rare attack children and many do not make it past five years old.
Paediatric neurologist Doriette Soler, speaking in Rare Disease Day yesterday, said the developments in genetics and neuroscience were leading to more awareness of these rare conditions, meaning “we are in a better position than we were 10 years ago to diagnose them”.
The main difficulty, however, remains the expertise to treat and manage these conditions. Over the years, networks have been developed with centres that are specialised in rare diseases for their input, even as regards advice to parents.
Every week, in neurology, Dr Soler sees about three to four cases of rare disorders in children. In some, diagnosis is not possible, neither locally, nor overseas.
“Not all children die young as some conditions are treatable, but those that do usually have a degenerative disorder and the medical knowhow is missing,” Dr Soler said.
A task force on rare diseases, set up a year ago and headed by Miriam Dalmas, is carrying out a stock-taking exercise and also looking into the patients’ needs to make recommendations and improve the services on offer. The task force is a step in the right direction because it makes clinicians aware of the burden of these conditions on the families, said Dr Soler.
Carers should be in a position to guide them to access the appropriate information and parent forums, which do not only offer them solidarity but also help in the day-to-day management of the condition, she said. “It is important to have a picture of the situation and we have to see if we have any rare conditions that are more common in Malta than in other countries.”
Malta definitely has more gangliosidosis – a neurodegenerative condition, where the body is unable to metabolise certain fats and results in abnormalities in the nervous system. These children are born normal, but start degenerating after a couple of years and, unfortunately, they do pass away, Dr Soler said, pointing out that Malta has a higher carrier rate.
The task force has been working on a national strategy on rare diseases and the first draft should be completed soon, Dr Dalmas said. One of its major challenges is the establishment of a register of the existing rare conditions in Malta and how many persons are suffering from them.
The many who make up the minority
• 30 million patients suffer from rare diseases in Europe.
• 80 per cent of rare diseases have identified genetic origins, while others are the result of infections, allergies and environmental causes. They may also be degenerative.
• There is strength in numbers, and although rare diseases are few and far between, collectively there are many.