PETALING JAYA: Congenital abnormalities – the majority of which are rare diseases – are the main cause of babies and children under five years of age in Malaysia dying.

But the country lacks a central comprehensive registry for these diseases to increase awareness and help with formulating strategies.

Yearly, around 16,500 of Malay­sia’s 550,000 babies are afflicted with congenital abnormalities and about one third may succumb to these illnesses before reaching their first birthday.

Those who do not die may have reduced quality of life due to physical or learning disabilities.

University Malaya Medical Centre consultant paediatrician and clinical geneticist Prof Dr Thong Meow Keong said the need for a registry was pressing because there was so little awareness of the diseases.

“There is a need for reliable data on the actual number of individuals with rare diseases in the country.

“With proper information, we can plan healthcare needs for them and their families and institute preventive and control strategies in line with WHO (World Health Organisation) recommendations to reduce infant mortality,” he said.

There are about 8,000 known rare diseases and the list is growing daily, according to him. He said rare disease is defined in Europe as a condition occurring in 1 in 2,000 general population but there is no official definition yet in Malaysia.

Some patient support groups, such as the Malaysian Rare Disorders Society, adopted the definition of any condition that affects 1 in 4,000 people or less, he said.

Of the 8,000 diseases, only about 200 have pharmaceutical treatment.

Prof Thong said that couples at risk of genetic diseases should seek counselling from clinical geneticists before going for genetic testing or starting a family.

“Malaysia needs more diagnostic services for genetic and metabolic diseases at affordable prices.

“Due to lack of facilities and ex­­per­tise, genetic testing is exp­en­­­sive and samples for genetic testing often have to be sent overseas,” he said.

This was echoed by Malaysia Rare Disorders Society president Datuk Hatijah Ayob.

She said the lack of awareness resulted in a lot of difficulties faced by sufferers, including issues with insurance and Socso coverage.

“Some rare diseases are not recognised by the Welfare Department.

“One case we heard of, the sufferer did not qualify for Socso. We need data to mark trends in these diseases,” she said.

Hatijah said that due to the lack of information, late diagnosis or misdiagnosis was an issue.

“For example, if a child has Marfan’s Syndrome (a genetic disorder affecting the body’s connective tissue), parents may think the child is just tall and lanky. By the time they realise something is amiss, the child could have skeletal or visual issues,” she said.