The angels with Angelman syndrome need support

WE were invited to an Angelman syndrome family gathering in the Klang Valley on Aug 30 that marked a coming together of a community bound by a big love for the children they fondly call their “angels”.

Named after British paediatrician Dr Harry Angelman who first reported about 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, especially the UBE3A gene. Globally, Angelman syndrome is estimated to affect one in 12,000 to 20,000 live births; in Malaysia, its prevalence is approximately five to eight cases a year.

Common symptoms include developmental delay; intellectual disability; muscle issues which affect balance, mobility or coordination; seizures; and speech impairment. It is the communication disorder that has prompted us to conduct a linguistic study of how children with Angelman syndrome communicate using nonverbal means, given their limited or lack of 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, have disrupted sleep patterns, and unique methods of non-verbal communication that rely on gestures, eye gaze, tapping, or vocalisations, which we intend to explore further.

The gathering’s organisers told us it was the first time so many families had come together, arriving from Johor, Kedah, Kelantan, Pahang, and Perak, and as far away as 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 vibes of 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, supporting families in getting prompt diagnosis and 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 and should not be forgotten.

YEO SIANG LEE

Senior lecturer

NUR HAZIRAH ABDUL AZIZ

Postgraduate student

English Language Department

Faculty of Languages & Linguistics

Universiti Malaya