A Mothers Plea Brings AS Information, Education, and Awareness to Australia


Dr. Jessica Banko,
Dr Edwin Weeber,
and Dr. Honey Heussler
It all started with a desperate plea from an Aussie mum... will you come to Australia; tell us first hand about your research and what it would mean for our kids? We never imagined that the ramifications would be so positive for Angelman Syndrome families in Australia.

From the moment Dr. Weeber agreed to come to Australia it was a frenzy of emails between a few AS families working out a way for it to happen. The momentum was building, and truth be told, there were a lot of butterflies about whether we could make this happen. But due to the generous nature of some of our medical professionals and hospitals, we were able to provide families and clinicians some valueable time with Dr. Weeber.

Jen and Mario with daughter Lucy
Dr. Weeber was so generous giving his time to parents in Brisbane and Sydney and the sessions were a resounding success. The sessions included walking us through the genetics behind AS, creating a representative mouse model and the subsequent rescue of that mouse. Parents were astounded to hear the numerous ways in which Dr. Weeber's lab are searching for a therapeutic intervention for our kids. We could see first hand how this has all been developed.

For some parents it was the first time they had heard of any research into AS. Only five years ago parents in Australia were told that there would never be any research into AS, and that they should take their children home and love them. This is the first opportunity for some parents to hold out any hope to hear the voices of their angels.

Dr. Weeber's sessions with the clinicians and scientists in both Brisbane and Sydney were again well attended. Our hope for these sessions was two-fold - that the clinicians would have a better understanding of AS for future diagnosis, and that scientists would take an interest in our children's disorder.

Meagan and Rohan with daughter Molly
We truly believe that there would have been no other way to inject this level of excitement into the AS community in Australia. No amount of reports, or articles, would have matched giving parents the opportunity to meet and chat with Dr. Weeber. And we were truly lucky that Dr. Weeber's equally talented wife, Dr. Banko, came to visit us as well. It was almost like getting a two for one deal - two brilliantly dedicated and compassionate individuals who truly care for the future of our angels.

And the generosity continued with the Mater Children's Hospital in Brisbane offering to set up DNA sequencing for parents without a confirmed diagnosis. Previous to this tests for mutations were sent overseas generating long waits and huge expenses to parents. We also managed to gain some precious airtime with a national news network running a story on Meagan and her angel, Molly.

Melanie with son Lachie
The feedback from parents has been incredible - one parent described the session as a life changing moment - at last they finally had some hope. Parents were able to understand why AS is so simple in its design, yet so devastating in its effects. Why there really is hope for a cure. We feel that there is now a reinvigorated AS community in Australia. It is our goal to build on this to increase awareness in the general public, to reduce misdiagnosis through providing important information to our medical community and to encourage research in Australia so we can all work together in the search for a cure.

And for all that Ed and Jessica brought to Australia (yes we were mates by the end of the first day formal titles were put aside), we hope that we have given some back to them. They now know that "Oz" isn't a town in Australia - it is just slang for Australia, that we sometimes raffle trays of meat in pubs (yes we do have butchers, but this is way more fun), and that after you have seen 100 kangaroos they even get a little boring!

We could never convey just how appreciative we are to Ed and Jessica for taking the time to reinvigorate a nation of angel families. They, along with anyone else in the international AS community, are welcome at our shores whenever they feel the need to buy a ticket in a meat raffle.

Many thanks, Meagan Cross and Jen Kyriacou

Photos by Emily McInnes