A Multidisciplinary Approach to Managing Rare Disease

Does ‘Neurofibromatosis Type 1’ (NF1) cause any flicker of remembrance? Although classified as a rare disease, NF1 affects more Malaysians than we know. NF1 is a genetic autosomal dominant disease with 50:50 split; either inherited from the parents or caused by spontaneous mutation at the NF1 gene. NF1 is multisystem 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. 

The disease can occur early on among children, with 1 in 3,000 children estimated to be diagnosed with NF1 globally. As the early symptoms can include light-brown spots (café’ au-lait macules) on the skin or bumps developed either on or under the skin (neurofibromas), with risk of developing optic glioma at later stage of their lives, it can be challenging for parents to identify the onset of the disease in their child. 

Among patients with NF1, 30%-50% of them may experience plexiform neurofibromas (PNs), majority of which are present at birth, PNs can cause extreme disfigurement, be very disabling and interfere greatly with the regular growth and functioning-. NF1 also often carries a significant psychosocial burden for patients, as other symptoms include tumours that grow on the nerves, causing visible bumps that may draw unwanted attention in public.

Given its importance, a group of experts comprising - 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. 

Dr. Ngu Lock Hock, Head of Department, Department of Genetics, Hospital Kuala Lumpur shared, “Removing barriers to awareness is an essential step to improving understanding of NF1 not just with the public, but also among healthcare practitioners. Ideally, we can do this 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.”

Speaking at the event, Professor Dr. Thong Meow Keong, Consultant Clinical Geneticist, Department of Paediatrics, University Malaya Medical Centre 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.”

“Establishing a working group of experts to guide the refinement of diagnosis is important for improving the management of NF1 and ultimately, derive better patient outcomes. We need to push for policy changes on approaching rare diseases and it covers decentralising funding, services, and resources to ensure equity in healthcare in Malaysia. Additionally, medical training to produce more rare disease specialists and providing recognition and posts for genetic counsellors are required,” added Professor Dr. Thong.

Supporting the call for policy change, Azrul Mohd Khalib, Founder and Chief Executive Officer of the Galen Centre for Health and Social Policy opined that policy changes that foster an ecosystem approach to managing rare diseases and gaining access to treatment is needed to provide patients with better health outcomes. 

Azrul explained, “As NF1 is uncommon knowledge to the public, there is a high unmet need of patients seeking for 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.”

Puan Nadiah Hanim binti Abdul Latif, President of Malaysian Rare Disorders Society (MRDS) stated, “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 for diagnosis and eventually treatment.” 

“MRDS continues to work collaboratively with patient groups, healthcare professionals, and all stakeholders involved to improve patient journeys from early and accurate diagnosis to treatment and beyond. We are committed to working with all stakeholders to continue to push and ensure that the right to health and wellbeing of all individuals living with rare diseases and their families are upheld in Malaysia. In upholding the country's commitment to Universal Health Coverage, we believe that No One Should Be Left Behind.”

To further drive public awareness on NF1, a new microsite themed Let’s Now Figure 1 was launched at the forum. Supported by AstraZeneca, the new microsite serves as an information centre offering fundamental knowledge on NF1 - its symptoms and diagnosis methods – and insights on management methods for NF1. 

Visitors to the site www.learnNf1.my can learn more about potential healthcare teams to reach out along with the (patient) treatment plan, providing useful information for newly diagnosed patients or, parents with a child diagnosed with NF1.