Angelman Syndrome


Story Details

Little Mia has a big personality...

"She's just out there and wants to let everyone know that she's in the room… She laughs at everything you just have to say ‘peek a boo’ it doesn't take much," says mum Peta.

But sadly this is one of the few sounds Mia makes.

"They are nonverbal, completely nonverbal, developmental delays, some children suffer from seizures and lack of self-care," explains Peta.

A wide smile and contagious laugh are trademarks of a very rare disorder that affects just one in 15 thousand.

"The main symptom that I see as a clinician is the very large smile that these kids have when they come through the door," says Peta.

"It came up that she had Prader Willi Syndrome and then he suggested we both have blood tests as well, and it came up with Angelman," says Peta.

Peta Perrie and her husband Matthew discovered three years ago that their third child was born with a neuro-genetic disorder known as Angelman syndrome.

"At first it was, I think I cried the whole weekend that we found out, every day I have my moments seeing all the other children running around but it's something you learn to live with," says Peta.

Angelman’s children experience developmental delays, aren't expected to ever speak, many never walk and some suffer from uncontrollable seizures.

"We did ABA therapy, which a lot of autism children work with. At the end of the day it's the same sort of therapy really, lucky we haven't had any seizures, with Mia it's more therapy we've had to deal with." Says Peta.

An unusual obsession with water and food are also characteristics of the condition.

"We just have to know where she is all the time, she's just got to be supervised, she's broken locks in our fridge, cupboards, if she wants to be in there," says Peta.

We first met the Monaghan family back in 1996...

"You've got to be really quick, especially in the kitchen when there's food around, when you're watching one, the other one will come from behind you," Says Kerri Monaghan.

Kerri's son Matthew was the second child in South Australia to be diagnosed with Angelman syndrome.

Strangely, her step-son Josh was also later diagnosed with the condition.

Something both her and her partner at the time struggled to accept.

"To know that he was never going to speak, of course now that I know that, my expectations aren't as high," says Kerri.

17 years later, life for the Monaghan’s is different…

"Matthew’s in full time care now, so that's had a big change in our life, things are a lot quieter now,” says Kerri.
How hard was that decision?

"Toughest decision of our lives. Josh went into full time care first and then Matthew followed after, we just realized for the benefit of the family it was necessary for survival," admits Kerri.

Josh 28 and Matthew 26 have come a long way since we first met them...

"They're understanding is very good, even though they're non-verbal they're able to let us know their wants and needs, you don't have to be around them very long to understand what they want," says Kerri.

And their health has also improved...

"When they were younger they had lots of health problems, in and out of hospital, lots of seizures, now, the seizures just seem to diminish, they are a lot healthier," says Kerri.

But they haven't outgrown their overwhelming obsession with eating...

"When they go to a family picnic, bbq, that type of thing, when there's food out they could pretty much continue eating, well they just don't stop," says Kerri.

When Matthew was first diagnosed 22 years ago, there was very little information and support for sufferers and their families.

Is there more support now?

“It's definitely a lot easier now,” says Kerri.

There was also very little hope for a cure, but that too is changing…

"We're much closer to being able to be offering hope for positive modification of the symptoms that we see," says Dr Helen Heussler.

Dr heussler is from the Mater Childrens Hospital in Brisbane, she says phase one of these clinical trials are underway in the US and it could be a matter of time before they come to our shores…

"In Australia we are in the Angelman community and medical community, trying to get to the position where we would be able to take advantage of any clinical trials that were deemed positive enough to go to that next level… it is very exciting for families,” says Dr Heussler.

Are you hopeful that maybe there is a slight chance of a cure?

"Absolutely yes, it's hard to say a cure, but any improvement in their abilities would be a benefit," says Kerri.

"It would be so exciting, to ease her frustration would be my main thing to keep up with her friends and peers would be really, really, lovely," says Peta.