The Angelman Syndrome Association of Australia has launched a nationwide campaign to find Australia’s 1000 “missing” members.
It is estimated there are more than 1000 people in Australia with Angelman Syndrome, but fewer than 200 are registered, with fears people with this rare genetic condition could be missing out on vital support due to the lack of diagnosis and awareness, so the association hopes to find the missing members and raise awareness on 15 February for International Angelman Day.
Angelman Syndrome Association Australia (QLD) Vice President Lysandra Warren says the awareness is so low that even some medical professionals are unaware.
“Can you imagine trying to explain your child’s condition to a doctor while you watch your child have a seizure and turn blue in the face?”
Warren says this is what happened the first few times she took her diagnosed son to the hospital, as some doctors didn’t know about Angelman Syndrome or how to treat it.
She says prior to her nine-year-old son Joel being diagnosed she had never heard of the syndrome.
“If you know what you’re looking for you can generally look at a child and know.
“The syndrome slows their development, most of them can’t speak, they have very jerky movements, use a low tone and have a real fascination with water,” she says.
Warren says Angelman children are amazingly determined, however, and cheeky and delightful… “most of the time,” she jokes.
Angelman Syndrome was first recognised as a separate condition in 1965 when it was described by British pediatrician Dr. Harry Angelman.
People with the condition typically have high support needs, some mobility limitations, complex communication needs with no verbal language, severe sleep disorder and often intractable epilepsy. There is usually a chromosome 15 deletion, however the genetics of the condition are quite complex.
Warren explains paediatricians and geneticists are now recognizing the syndrome at a much earlier age with chromosome testing becoming more available due to advances in technology.
“I hope International Angelman Day spreads the awareness and that someone might go ‘that sounds like my child’, or start a conversation,” says Warren.
Since Warren found out about Joel’s condition she says the support from Angelman Syndrome Association has helped tremendously.
“It helps to know where to focus your attention and the support provided saves parents a lot of heartache once a diagnosis is made,” she says.
Spokesperson for the association Mary Bills believes that many cases, especially older individuals, have been missed by health professionals and labelled as special needs, on the autism spectrum, or cerebral palsy.
“There may also be families with a correct diagnosis who simply aren’t aware of the Association and of the Angelman Syndrome clinics now accessible in Queensland.
“For most families, the diagnosis will have been a bolt out of the blue and will have had life-changing consequences. As the condition is rare, a sense of isolation is all too frequent. We want to find these families and bring them into our Angelman family,” Bills says.