Today (February 15) is International Angelman Day, which provides an opportunity to raise awareness of the condition and mobilise people to improve the lives of families impacted by the rare disease.
Angelman syndrome impacts almost 2,000 Australians and 200 Western Australians.
The syndrome prevents speech, impairs mobility and impacts independence. Most people with the syndrome require ongoing support.
It is caused by a severe reduction of expression of the gene UBE3A (which sits on the 15th chromosome on the maternal allele) in the brain.
The Angelman Syndrome Association of WA joins each year with other organisations, nationally and internationally, for International Angelman Day to raise community recognition of the needs and accomplishments of children and adults with the syndrome.
Angelman syndrome is poorly diagnosed. Many people receive incorrect diagnoses of other disabilities, which impact their ability to access supports.
As stated by Disability Services Minister Stephen Dawson:
“I am proud to support International Angelman Day as part of Rare Diseases Month.
“I’ve been told by members of our community how having a correct diagnosis and access to information about their rare disease helps them immeasurably with daily life.
“There is no known cure of the syndrome but research efforts are underway internationally to treat it and increase peoples’ independence. It’s my hope that trials could occur in the coming years here in WA.”
