SEPT 14 -- We were honoured to be invited to an Angelman syndrome family gathering on August 30, 2025. It couldn't be more timely, as the pre-launch of the National Policy for Rare Disease in Malaysia had just taken place three days earlier.
It was a small get-together, a celebration, a baby step in bringing the community together, bound by a big love for the children they fondly call their "Angels".
Named after Dr Harry Angelman who first reported it in 1965, this neurogenetic disorder is included in the 2023 Malaysian Rare Disease List. It is caused by the loss of function on the maternal allele of chromosome 15, particularly the UBE3A gene. Globally, Angelman syndrome is estimated to affect 1 in 12,000 to 20,000 live births; in Malaysia, its prevalence is approximately five to eight cases per year.
Common symptoms include developmental delay, intellectual disability, muscle issues that affect balance, mobility or coordination, seizures and speech impairment. It is this communication disorder that has prompted us to conduct a linguistic study on how children with Angelman syndrome communicate using non-verbal means, given their limited or absent functional speech.
Despite these challenges, individuals with Angelman syndrome are widely known for their cheerful and excitable personalities, happy demeanour and sociable nature. They also exhibit an intense fascination with water, disrupted sleep patterns and unique methods of non-verbal communication that rely on gestures, eye gaze, tapping or vocalisations -- areas we intend to explore further.
Indeed, we saw many happy faces at the gathering. There were also colourful balloons, posters, food, colouring corners, talks by professional therapists and sharing sessions among families. The organisers told us it was the first time so many families came together, some travelling from Kedah, Perak, Kelantan, Pahang, Johor and even Indonesia.
What we found fascinating were the posters prepared by the families. Each told a story of their child's personality, likes and dislikes, trials and tribulations, and the family's hopes and dreams. We were particularly touched by this quote: "Our children are not a burden, but a different way of showing how beautiful love is" -- which encapsulates the collective voice of all the families.
The positive energy, camaraderie, togetherness and resilience were humbling as well as empowering. Looking ahead, there is much work to be done in terms of advocacy and in supporting families to secure prompt diagnosis, targeted treatments and therapies, among others.
Yes, it is a rare disease, but no family should face it alone. To echo the words of Health Minister Datuk Seri Dzulkefly Ahmad: every child -- with or without a rare disease -- matters, and they will not be forgotten.
*Nur Hazirah Abdul Aziz is a postgraduate student, and Dr Yeo Siang Lee is a senior lecturer at the Faculty of Languages and Linguistics, Universiti Malaya. They may be reached at [email protected].