Angelman Syndrome is a rare genetic disease cased by a deletion or mutation of the UBE3a Gene. Symptoms include a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep problems.
These definitions may help writing research papers, though they barely scratch the surface of how complex this condition presents itself. Most people will inevitably diagnose AS the same way Dr Harry Angelman did, through the uncontrollably happy demeanours of his patients.
The Angelman project began in high school with my first miniDV camera documenting my brother who was born with Angelman Syndrome. Growing up he was just a brother who chewed my action figures and went missing on a weekly basis.
The more I observed his behaviours through a video lens, the more curious I was to understand what was really going on inside he head. What was he thinking? Why does he do what he does? Remember this man cannot and never will be able to speak and thus tell us how he feels, what he wants and whether he even like me?
Through a documentary project at University, I took the home video further to propose how he may interpret the world. This award winning short film grabbed the attention of other families living with Angelman Syndrome, and at the age of 24 – I finally met another Angel. This network grew rapidly as I was introduced to The Foundation for Angelman Syndrome Therapeutics – a charity raising funds to support families with AS. Their belief – that we will find a cure for this condition in our lifetime. Which I can say, in 2004 was laughable, though the last decade of breakthroughs in genome mapping and in-utero detection mean this is most certainly going to happen much sooner than any of us imagined.
For a long time, Megan Cross, Chairperson of F.A.S.T and I were discussing the possibility of generating video content for the organisation which would raise awareness, educate parents on the condition and encourage philanthropists to donate.
In 2015, F.A.S.T was generously donated the finances to make this happen by I.C.A.P. This spawned the first nationwide campaign to understand Angelman Syndrome, create materials to help families manage the condition and
Our Premise: Knowledge is as valuable as the cure.
I took my camera around Australia interviewing 25 families of different backgrounds who have raised children with Angelman Syndrome. The goal was to paint a wide picture of the variability of the condition so the participants ranged from 1 to 35 years old and expressed different characteristics due to different mutations of the gene.
The series of films were a hit, achieving hundreds of thousands of likes which is unheard of for a rare genetic disease such as Angelman Syndrome.
Revisiting Families Five Years Later
In 2020, we followed up with the families, seeing what had changed over the five years, what they learnt, how the NDIS scheme had helped, what new devices there were for communication and their updated belief on what a cure would look like. We captured over 50 families with AS with a new mission to find every last person living with Angelman Syndrome in Australia.
This series opened my eyes to the strength and sacrifice of families living with a rare disease. The frustrations I grew up with, become shared experiences to laugh with other brothers, sisters, mothers and fathers.
However all this newfound knowledge has only posed more questions about what it means to live in a world where you cannot speak in the same language as us. How do you interpret the world? How do you make sense?
And thus, the personal documentary I was making in the background, the one about understanding my brother, this had become inverted. I was no longer asking what it means to be him, but rather what makes us? How did we come to accept the systems we live by? Why don’t we laugh as much as people with Angelman Syndrome? Are we really happy?
This reflexive documentary film is in development – seeking a distributor or co-producer with experience in helping me reach audiences in cinema. If you can help, or if you are a family with Angelman Syndrome who just wants to chat about life – then please book in a meeting here.