Raising awareness of a rare disease

Read Time 3 min.

Raising awareness of a rare disease

The Foundation was founded by parents of Angels, a term for to people with Angelman Syndrome, a condition discovered by Dr. Harry Angelman.

They have been on a quest to find therapeutics to help support families with Angels.

Angelman Syndrome (often abbreviated AS) is a severe neurological disorder characterized by profound developmental delays, problems with motor coordination (ataxia) and balance, and epilepsy. Individuals with AS do not develop functional speech. Individuals with Angelman Syndrome tend to have a happy demeanor, characterized by frequent laughing, smiling and excitability. Angelman Syndrome is a genetic-based disorder resulting from the loss of function of the Ube3a gene in the brain. Loss of Ube3a prevents neurons from functioning correctly, leading to deficits in learning and memory. Importantly, loss of UBE3A does not appear to affect neuronal development, indicating that neurons could function normally if UBE3A function is restored.

“If you could ask them one thing, what would it be?”

Jo, Mother of an Angel

I have a brother with Angelman Syndrome and wanted to do anything I could to help the foundation realise their goals.

They needed to help raise awareness of the condition and educate parents on many of the misconceptions with the condition.

The problem The Foundation for Angelman Syndrome Therapeutics found was that no matter how detailed they tried to be, it was just too difficult to explain the diversity of people with Angelman Syndrome. This means many go undiagnosed or even worse, misdiagnosed.

So we set about finding a way to communicate the unique characteristics of the condition, raising awareness and helping the organisation fund a therapeutic.

I crossed an entire continent meeting 25 families from Perth to Melbourne, Hobart to Cairnes, talking with parents and siblings to gather their first hand experiences with the condition.

From our encounters we produced a suite of video content from the emotional to informational including; An overview of the condition, clinical characteristics to look out for, a history of the organisation and much more.

Over 40 hours of observational footage was gathered which is added to the organisations research archive.

The videos were released online through Youtube, facebook and other social channels. They were also used at medical conferences, gala events, charity fundraisers and any place that could help F.A.S.T find a therapeutic.

The success of the campaign can be found through the thousands of comments on Youtube and FAST forums. The passionate were an overwhelming confirmation we had achieved our goal.

Please show your support and get in touch with the Foundation for Angelman Syndrome Therapeutics on Cureangelman and watch one of our videos below.