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.