The MND Genies with Professor Justin Yerbury's research team. PhD candidate Christen Chisholm, Honours student Victoria Sheppard, Jessica Ellis, Research Associate Dr Luke McAlary, Rebecca Young, Kaitlin Ellis and Senior Research Assistant Natalie Farrawell. Photo by Mark Newsham.

IHMRI researchers show support for sisters with motor neurone disease gene

Sisters Kaitlin and Jessica Ellis are not yet 30 but both live with the knowledge that they have a high chance of developing a devastating and currently incurable disease.

The pair from south west Sydney both know they carry a mutated gene for Motor Neurone Disease (MND) after undergoing genetic testing. 

Kaitlin and Jessica decided to get tested after their mother Susan Ellis was diagnosed with MND in 2015 at the aged of 57.

There was a 99% chance both sisters would also carry the mutated MND gene.

“We got the test results in 2015 when Mum was already debilitated by the disease. She let out an enormous wail when we told her the outcome. It was horrible because she couldn’t even hug us to comfort us,” said Kaitlin Ellis.

Susan Ellis died from MND in 2017, seven years after it had killed her brother.

“Jessica and I wanted to know because we had watched Mum in so much pain and suffering. We thought if we knew, we would feel more empowered and wanted to raise awareness for research to find a cure,” she added.

Both Kaitlin and Jessica carry the C9orf72 MND gene which is linked to both frontotemporal dementia (FTD) and MND, which is also known as Amyotrophic lateral sclerosis (ALS).

Their friend Rebecca Young from Penrith carries the SOD 1 MND gene, the same gene mutation as IHMRI researcher Professor Justin Yerbury.

Together the trio decided to form a support group called MND Genies to help anyone wanting advice about genetic testing for the disease.

 “Whether it’s talking, meeting, sharing our lives or helping each other through all the obstacles we face, we don’t want anyone to ever feel alone,” said Rebecca Young.

Professor Yerbury underwent genetic testing for MND after losing his mother, sister and other family members to the disease.

He was diagnosed with the disease at 42 years of age.

“I guess that I wasn’t surprised by the results of the test, but I also knew that my grandmother had lived a full life before being diagnosed at 72 so there was always hope, even after such bad news. I really just took things one day at a time,” said Professor Yerbury.

“The decision to have a genetic test is a very personal one, but I would tell someone with MND or with a genetic mutation the same thing I would tell anybody else. Make the most of every day on this earth, live for every moment because you never know what is around the corner,” he added.

Kaitlin and Jessica Ellis know there is a 50% chance they will develop the disease.

“I can picture my MND, and every time I do something proactive I’m kicking it back a little bit more,” said Kaitlin Ellis.

There are several different genes in which mutations can cause MND. Mutations might not cause MND in every carrier.

Inspired by Professor Justin Yerbury’s MND research at IHMRI, the MND Genies visited Wollongong to find out more.

“We are trying to understand the reason why motor neurons die during MND and use that information to design therapies that we can then test in the lab,” said Professor Yerbury.

More than 2,000 people have MND in Australia. Average life expectancy from diagnosis is two and a half years.

“Most people don’t know they have the disease until they begin to show symptoms. By then the disease has already run its course, it’s already done the damage,” said Dr Luke McAlary.

More than 50% of people living with MND are under the age of 65 and the number of sufferers in Australia is increasing every year.

Gallery

Photos Mark Newsham

Media coverage

WIN News Illawarra

ABC Illawarra

30 May 2019: Motor neurone disease is fatal but sharing with others helps relieve the burden

The Illawarra Mercury

29 May 2019: MND Genies Kaitlin and Jessica Ellis at IHMRI to learn about research

Media contact

Louise Negline, Communications Coordinator

t: 4221 4702

m: 0417 044 867

e: louisenegline@ihmri.org.au

Top photo: The MND Genies with Professor Justin Yerbury’s research team. PhD candidate Christen Chisholm, Honours student Victoria Sheppard, Jessica Ellis, Research Associate Dr Luke McAlary, Rebecca Young, Kaitlin Ellis and Senior Research Assistant Natalie Farrawell. Photo by Mark Newsham.

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