The group’s leader, Saida Abu Bakar, said existing information is fragmented across hospitals, genetics services, and disease-specific records, and the prevalence of such diseases nationwide remains unknown.

“A rare disease registry makes patients and their conditions visible within the health system,” she said.

“Without it, patients remain largely invisible, making it difficult to plan services, allocate resources, or coordinate long-term care,” she told FMT in conjunction with World Rare Disease Day in February.

Saida, who is president of the Dystrophic Epidermolysis Bullosa Research Association Malaysia, said the lack of consolidated data means that rare diseases are not included in government health plans, which have a focus on chronic diseases.

“A rare disease registry is the backbone of evidence-based care, research, and policy,” she said. While funds have been allocated to treat rare diseases, it was unequally disbursed.

Although Malaysia has clinical expertise in rare diseases, these services remain constrained by how care is organised, funded, and integrated into the broader health system, she said.

Saida called for rare diseases to be included in Malaysia’s chronic care agenda as “many rare conditions are lifelong and need the same fundamentals as good chronic care”.

“Too often, rare diseases are treated as ‘special cases’ parked outside mainstream chronic care planning, and the result is predictable – fragmented follow-up, uneven referral routes, and limited coordinated long-term support.”

Dystrophic epidermolysis bullosa is a genetic disorder that causes the skin to be very fragile and to blister easily in response to minor injury or friction, such as rubbing or scratching.

World Rare Disease Day will be celebrated in Malaysia on Feb 4 at Hospital Tunku Azizah, Kuala Lumpur.