Mum makes annual trip to Sydney for treatment for Alzheimer’s
Every year one mum packs her bags and heads to Sydney – but her trip isn’t filled with coastal walks, tourist attractions and nice restaurants.
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Once a year Amanda Ayliffe packs her bags and heads to Sydney for a week.
But instead of taking in tourist spots, the 56-year-old goes from hospital to hospital for medical check-ups including brain scans, blood tests, and spinal taps, as well as cognitive testing.
“I feel like I’m the luckiest chick on earth,” Ms Ayliffe told news.com.au.
The Newcastle resident knows first-hand the devastation of an Alzheimer’s disease diagnosis – both her biological father and uncle developed symptoms in their 40s, and died in their 50s.
“They were first diagnosed at 50 years of age respectively. My uncle had passed away at 52 which was awful, and my biological father was 58,” Ms Ayliffe said.
It was after her uncle passed that Ms Ayliffe’s cousin – a nurse – began questioning if there was something more than just a coincidence that the brothers would both be diagnosed with the same condition and die within years of each other.
Ms Ayliffe’s family is one of only about 20 families in Australia with a rare genetic variant that predisposes them to the degenerative disease.
Genetic testing soon established Ms Ayliffe and other members of her extended family shared the same genetic malfunction. Ms Ayliffe was just 35.
“The diagnosis was just horrible. It was really, really difficult,” Ms Ayliffe said.
“I had three kids at the time, all young and I thought ‘shit, what am I going to do’.”
Her GP put her in touch with researchers at NeuRA – an independent, not-for-profit, Sydney-based medical research institute focusing on people with brain and nervous system disorders.
NeuRa was taking part in an international Dominantly Inherited Alzheimer Network (DIAN) study which indemnifies biomarkers for Alzheimer’s disease long before symptoms present, along with peers in the UK, US and Germany.
For the past two decades, Ms Ayliffe has been having brain scans every three months, as well as annual testing. She is also on a trial medication, the name of which cannot be revealed publicly as it is yet to be approved for use in Australia.
At the age of 56, she remains symptom free.
Cognitive Neurologist Dr Emma Devenney, who leads the DIAN project at NeuRa, said the DIAN study and trial have already lead to significant breakthroughs.
“We have been in this space for a while and there hasn’t really been a lot of hope until the work from DIAN,” Dr Devenney said.
NeuRA is currently looking younger Australians with a family history of Alzheimer’s disease to register for the project.
“In this specific type of Alzheimer’s disease – and it accounts for one per cent of all the cases of Alzheimer’s disease – these people carry a mutation for an abnormality in one of their genes that means they are destined to develop Alzheimer’s disease,” Dr Devenney said.
“If they carry this gene, they will develop Alzheimer's disease”.
Dr Devenney said if one parent carries the gene and develops Alzheimer’s disease then their children each have a 50 per cent chance of being carriers.
She said the most-recent trial results showed “that in a small group of people, treating them with these drugs delayed the onset of Alzheimer's disease by about 50 per cent”.
“That’s the first real signal that we’ve had that we can prevent this from happening,” Dr Devenney said.
She said researchers are now hoping to apply those findings and learnings to other forms of Dementia with genetic mutations “to see if we can mirror what we have done in Alzheimer’s disease in these other conditions”.
She said those with the genetic mutation are developing the disease “in their 30s, their 40s, their 50s, and they’re in the prime of their lives”.
“They’ve got young families, they’re having kids, it’s a time when their careers are starting to take off and then they are hit with this sledgehammer and it’s completely life altering,” Dr Devenney said.
“And I think people aren’t really aware of that.
“But even thinking more broadly about just general Alzheimer’s disease, we think about it as somebody in their 80s, but it’s not uncommon to see patients in their early 60s and 70s with early signs and we are picking up those early signs much better and we are starting to diagnose people a whole lot earlier.
“And that’s what we really want to move towards,” she said.
There are currently about 50 Australian families involved in the DIAN project, with NeuRA earlier this year hosting the first family conference bringing those from Australia and New Zealand together.
“Everybody deals with it slightly different and within these families it changes the dynamic completely,” Dr Devenney said.
“There are some people who choose not to tell their children until they really have to and then there are others that have woven it into part of their family story.
“Knowledge is empowering. It seems a bit frightening – the thought of learning about all these risks, but I think it’s really important for people because it allows you to take control.
“We won’t turn anybody away. We are happy to hear from people who are worried or unsure if it’s genetic in their family. We are just keen to build up a community and get more people in”.
Ms Ayliffe said taking part in the trial has given her a second chance at life.
“I have surpassed the age of the onset of their symptoms,” she said of her father and uncle.
“I have a cousin, my uncle’s son. he’s a little bit older he’s actually been in a home for three years because he’s got Alzheimer’s and that’s sad.”
Ms Ayliffe said while she was initially nervous to take part, she knew she wanted to help makes things better – not just for herself, but others.
“I wanted to be able to live a longer life than what I was told I was going to live,” she said.
“I’ve got to help my kids and at the end of the day, I’ve got to help everybody because it’s just going to get worse.”
Ms Ayliffe said tries “not think about” her diagnosis, instead focusing on living her best life.
“I seriously just smile everyday. I feel like I’m the luckiest chick on earth because being with NeuRA and being able to be in a study is gold. They thank me, and I’m ‘no I’m thanking you’,” she said.
“I’m so blessed to have been able to see my grandkids. I never thought I would ever get to see my kids get married or have babies”.
To join the study: email dian@neura.edu.au or call 02 9399 1114
Originally published as Mum makes annual trip to Sydney for treatment for Alzheimer’s
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