Managing Rare Diseases Through A Multidisciplinary Approach

Does the term "Neurofibromatosis Type 1" (NF1) bring back any memories? Although NF1 is regarded as a rare disease, more Malaysians than we realise are afflicted. NF1 is an autosomal dominant genetic condition that has a 50:50 chance of being passed down from one's parents or developing due to a spontaneous mutation in the NF1 gene. The multisystem disorder NF1 is characterised by the growth of tumours on nerve tissue, changes in skin pigmentation, and other potential side effects that may affect different bodily systems. 

Children can develop the disease at a young age, with NF1 being diagnosed in 1 in 3,000 children worldwide, according to estimates. It can be difficult for parents to recognise the beginning of the disease in their child because 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 a risk of developing optic glioma later in life. 

Plexiform neurofibromas (PNs), the majority of which are present at birth, may be experienced by 30%–50% of NF1 patients. PNs can severely impair growth and function and cause severe disfigurement. Because other symptoms of NF1 include tumours that develop on the nerves, causing visible bumps that may attract unwanted attention in public, patients often also experience a significant psychosocial burden. 

Puan Nadiah Sharing her thoughts about the importance of having awareness

Due to the significance of the topic, a group of experts including Professor Dr. Thong Meow Keong, Consultant Clinical Geneticist, Department of Paediatrics, University of 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 

"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 Lock Hock, Head of Department, Department of Genetics, Hospital Kuala Lumpur. Ideally, we can accomplish this by incorporating information about rare diseases into medical curricula and raising awareness through social media. In the field of rare diseases, collaboration with patient support organisations is essential for launching funding and policy changes.

Visit www.learnNf1.my!

"NF1 is a disease that requires input from various medical teams, including neurologists, geneticists, hemato-oncologists, surgeons, and other experts from various disciplines," said Professor Dr. Thong Meow Keong, Consultant Clinical Geneticist, Department of Paediatrics, University Malaya Medical Centre, in a speech at the event. Because of this, managing NF1 through a multidisciplinary approach is a necessary step forward.

Azrul Mohd Khalib, the founder and CEO of the Galen Centre for Health and Social Policy, endorsed the call for policy change and believed that in order to improve patient health, policy changes that encourage an ecosystem approach to managing rare diseases and gaining access to treatment are required. 

How does your doctor know you have NF-1?

Find out symptoms on verifying NF-1

Rare diseases frequently go unnoticed, which results in a lack of crucial information in the public domain for the patient to cope, according to Puan Nadiah Hanim binti Abdul Latif, President of the Malaysian Rare Disorders Society (MRDS). Patients require precise instructions from the appropriate parties who can help them manage their disease. Our motivation for raising awareness of NF1 stems from our desire to assist people in learning about the condition, seeking a diagnosis, and ultimately receiving treatment. 

At the forum, a new microsite with the title Let's Now Figure 1 was unveiled in an effort to raise public awareness of NF1. The new microsite, which is sponsored by AstraZeneca, acts as a resource centre, providing details on NF1's symptoms, diagnostic techniques, and management strategies. 

The website www.learnNf1.my offers information for patients who have just been diagnosed as well as parents of children with NF1 about potential healthcare teams to contact as well as the (patient's) treatment plan.