Rare Care: Robyn’s Search For Answers To A Mystery Disability

Robyn & Stuart Fragile X

As a teenager growing up in Sydney’s north-west in the late 1950s, the atmosphere in Robyn Iredale’s family home changed dramatically when her younger brother Stuart was born.

Stuart didn’t talk much as a child, but his screaming and violent outbursts signified underlying issues that at this point went undiagnosed.

In those days, knowledge regarding intellectual disability was rudimentary, and this often equated to crude treatment that would now be branded cruel and inhumane.

“We were told that it was the cord around his neck when he was born, that caused it,” said Robyn.

Stuart spent his early childhood years at a school-like setting called ‘the home for subhuman children,’ and the cruelty and lack of understanding in that label are themes that continued to permeate throughout much of Stuart’s life.

“My mother died when he was seven, and when that happened we had no one else who was capable of caring for Stuart,” said Robyn.

“He was put into another institution for a while where he started to learn how to read and write, but they didn’t keep it going, and then as he got bigger and stronger he started to cause more problems.”

Robyn got married and moved out of the family home at the age of 21 while Stuart was placed into the care of the Morisset Psychiatric Hospital in Lake Macquarie, NSW.

The staff at Morisset could not provide Robyn with any insight into Stuart’s particular intellectual disability, and scars on Stuart ‘s body indicated that he was being physically abused.

“They couldn’t deal with him so they would just drug him,” said Robyn.

“When I went to visit him I would notice things like bruises and even cigarette burns on his body, and then I knew we had to do something.”

It was at this point, after nearly 40 years spent in institutions, that Robyn decided to take Stuart home.

Stuart Iredale

A Discovery

Robyn Iredale was forced to endure her own hardship while Stewart was living in Morisset, as the breakdown of her marriage left her struggling as a single mother of three.

Before giving birth, Robyn had asked a Canadian doctor if there was any chance that her children could possibly inherit the same intellectual disability as her brother, to which the doctor adamantly replied ‘no.’

Robyn gave birth to three children, the first of which was a daughter who was born in 1970, and the second was her son Marty who was born in 1972.

Although Robyn’s first daughter was developing at the same rate as other children her age, her son Marty began to display many of the same behaviours and learning difficulties that she saw in her younger brother three decades earlier.

“I knew it, I felt it. It brought back all the same feelings. And we had no real idea what was causing it,” said Robyn.

Robyn was in desperate need of answers, and finally, after years of misdiagnosis and confusion regarding the condition of her brother and son, a primary school doctor provided the answer.

The school doctor had recently attended a talk by a geneticist who spoke of a newly discovered genetic mutation that could be inherited, which resulted in intellectual disabilities and symptoms similar to that of Roby’s brother Stuart, and her son Marty.

And this genetic mutation is called Fragile X.

“The school doctor asked me if we could take Marty for a test and I agreed to that, and before too long we were all diagnosed,” said Robyn.

“I’m a carrier, my oldest daughter is a carrier, Marty is a carrier and has Fragile X syndrome, but my youngest daughter isn’t a carrier.”

“Then we got Stuart tested and he was a carrier, but he also has another chromosomal mutation that plays a role in his disability.”

What is Fragile X?

Fragile X syndrome (FXS) is the most common known cause of inherited intellectual disability and the most common known single-gene cause of autism spectrum disorder.

Fragile X is caused by a mutation on the Fragile X (FMR1) gene on the X chromosome.

Science shows us that while everyone actually has this gene, for some people, this gene mutates, and when it reaches a certain level it can result in Fragile X syndrome, which can cause intellectual disability.

Executive Director of the Fragile X Association of Australia, Wendy Bruce, explains that although many people in the general population do carry the pre-mutation of this gene, only some experience symptoms, and gender is also a factor.

“While both men and women have the X-chromosome, males have one X and one Y chromosome. This means that for males who have the Fragile X full mutation, the impact of Fragile X syndrome can be severe,” said Ms. Bruce.

“Females, on the other hand, have two X chromosomes, and so if one chromosome has the Fragile X mutation, the other may not which can lessen the impact of the Fragile X gene mutation.

Around 30% of females who have Fragile X syndrome have some degree of intellectual disability, while almost all males living with Fragile X syndrome will experience some level of intellectual disability.

People living with Fragile X syndrome can experience a number of different affects throughout their lifetime including intellectual and learning disability, speech delay, motor delay, coordination difficulties, and mood instability.

Anxiety is also common in people living with FXS, along with depression, ADHD and autistic-like behaviors. As many as 50% of males who have Fragile X syndrome also have autism spectrum disorder.

Older men who are carriers of the Fragile X gene premutation are at risk of developing tremors and gait instability, which are symptoms of Fragile X-associated Tremor Ataxia syndrome.

This is often misdiagnosed as Parkinson’s Disease or Alzheimer’s Disease.

Thousands of Australians are affected by Fragile X in some way, and many cases remain misdiagnosed or misunderstood. Fragile X syndrome is also a lifelong condition for which there is no cure.

“The primary thing about Fragile X is that it’s inherited and it causes intellectual disability,” said Ms. Bruce.

“The Fragile X gene mutation can be passed down in families, and this makes it different from some other genetic conditions. Now that it is better-understood people are actually getting the help and support that they need.”

A Brighter Future

Being one of five siblings, Robyn Iredale had to justify her wishes to keep Stuart out of institutions with her other brothers and sisters.

Robyn faced opposition from certain family members who thought that institutionalisation may have been the best option, but expert advice managed to convince everyone that he deserved a chance to try and live more independently.

“In 2005 I spoke with a doctor who was connected with the Fragile X Association and she helped convince my siblings that an institution was not the best option for Stuart, and we were lucky enough to find him a bed in a group home environment,” said Robyn.

Now 62, Stuart is a much happier person and a lot more talkative than before, he also enjoys listening to music which has been the one constant source of happiness throughout his life.

Stuart’s story has proven to be so compelling that he actually became the subject of a short documentary film entitled ‘Stuart X’ which was directed by Thibault Upton and narrated by Academy Award-winning Australian actress Cate Blanchett.

As sad as Stuart’s life has been, his negative experiences actually helped to shape the way in which his sister provided care to her son, which has resulted in Marty living a much more fulfilling life with Fragile X.

“The one thing that caring for Stuart taught me was what institutions do to people,’ said Robyn.

“I had to fight to keep Marty out of institutions but he’s 47-years-old now and he’s doing pretty well.”

“We built him an apartment on the back of our place and he got a job with our neighbour working in a factory. He has also worked at Woolworths and now is at a hardware store two mornings per week.”

Marty and Robyn

“Life is still hard, he doesn’t have many friends or have a relationship.”

“He has to be supported a lot. He has an NDIS plan and the support workers come and take him places, but he is living his life.’

Robyn Iredale is currently 75-years-old and very fit and healthy despite being diagnosed as a carrier of Fragile X.

The years of providing care to both Stuart and Marty have taken an emotional toll on Robyn who lives with depression, but she does take medication and reports that it does help ease the feelings of burden and stress.

Robyn worked as a teacher throughout her early adult life before completing a Masters in Ethnic Affairs and Migration and going on to work for the Ethnic Affairs Commission and the Human Rights Commission.

“I was awarded an AM for my work, which was a nice acknowledgment,” said Robyn.

“Things were pretty bad for Stuart, and even though things aren’t perfect for Marty, I think life is about as good as it can be for him, and that does make me happy.”

 

For more information about Fragile X, see www.fragilex.org.au

 

Photo Screenshot Courtesy of Stuart X Documentary – Directed by Thibault Upton

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  1. Strength, compassion, love, resilience, determination. Robyn is the sister and mother we would cherish to bring out the best in us in these times of adversity.

  2. Robyn you are an inspiration to parents of children with an intellectual disability. Well done and i wish you and Marty and Stuart the best for the future.

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