KUCHING: Neurofibromatosis Type 1 (NF1), a rare disease, has not spared Malaysians but little is known about it.
It is multi-system disorder that is characterised by the development of tumours on nerve tissue, skin pigmentation changes, and other potential complications affecting various systems in the body.
Professor Dr Thong Meow Keong, Consultant Clinical Geneticist, Department of Paediatrics, University Malaya Medical Centre; Dr Ngu Lock Hock, Head of Department, Department of Genetics, Hospital Kuala Lumpur; Azrul Mohd Khalib, Founder and Chief Executive Officer of the Galen Centre for Health and Social Policy and Puan Nadiah Hanim binti Abdul Latif, President of Malaysian Rare Disorders Society – came together at a media forum to discuss the importance of tackling NF1 through a multifaceted approach.
“Removing barriers to awareness is an essential step to improving understanding of NF1 not just with the public, but also among healthcare practitioners,” said Dr Ngu.
“Ideally, we can do this by enhancing the medical curricula around rare diseases and by leveraging social media for awareness.
“Working collaboratively with patient support groups to initiate policy changes and funding is also crucial in the rare disease space.”
Prof Dr Thong meanwhile said NF1 is a disease that requires input from various medical teams, including neurologists, geneticists, hemato-oncologist, surgeons, and other experts from various disciplines.
“For this reason, adopting a multidisciplinary approach to managing NF1 is a necessary step forward,” he said.
“Additionally, medical training to produce more rare disease specialists and providing recognition and posts for genetic counsellors are required.”
“As NF1 is uncommon knowledge to the public, there is a high unmet need of patients seeking right diagnosis and effective treatment. Tackling NF1 requires a holistic approach, involving various disciplines and enhancing existing policies to address ongoing challenges for this rare disease, ”concurred Azrul.
Nadiah said rare diseases often go unnoticed, leading to a lack of vital information in the public space for the patient to cope.
“Patients need clear guidance from the relevant parties that can support their disease management. Our efforts to drive awareness of NF1 is deeply rooted in the desire to help people learn about NF1 and, to seek diagnosis and eventually treatment,” she said.
