Bringing answers to children with a little-known genetic condition

Emily Shepard spent the first three-and-a-half years of her son’s life searching for answers. Mother’s instinct and closely observing Louis’s interactions with his older sister, family and friends convinced her that her son had an underlying health issue.

“Louis was born in a private hospital in Victoria that was one of the last hospitals to roll out newborn hearing screening, so he didn’t have that check when he was born,” says Ms Shepard.

“I took him home and, because he was our second baby, my husband and I could tell there was something not quite right early on. We had a noisy three-year-old toddler but Louis didn’t seem to startle or be impacted by her and at eight-weeks-old, he was diagnosed with profound hearing loss.

“He didn’t tick off milestones either – he couldn’t hold up his head and was late to roll and crawl and sit up. It was clear to us that as well as hearing loss, there was something else going on for Louis.”

It was a complex journey, but eventually the Shepard family discovered Louis had a genetic disorder called Usher Syndrome.

As well has hearing loss, children with Usher Syndrome develop an eye condition called retinitis pigmentosa that begins with night blindness and becomes tunnel vision or peripheral vision loss in adulthood.

Usher Syndrome also causes vestibular dysfunction in some cases, so children take longer to sit up and walk and have poor balance and coordination.

It occurs when both parents carry the gene associated with Usher syndrome. Together, they have a one in four chance of having a child with the syndrome.

Neither Ms Shepard or her husband were aware they were carriers and neither had heard of Usher Syndrome before their son’s diagnosis.

Louis is one of an unknown number of children in Australia with the syndrome. Getting an accurate diagnosis and information about the condition as well as finding the right kind of support for the child and their carers can be difficult.

This is why Shepard co-founded UsherKids Australia with another Usher parent, Hollie Feller.

“One of the first things I read after we got the diagnosis is that 80 per cent of adults with Usher Syndrome are unemployed. It’s hard to comprehend your child will grow into a future where he is most likely going to be unemployed,” says Ms Shepard.

“I thought surely there must be skills we could start giving Louis to ensure he gets a good education and to help him cope with his vision and hearing loss. That was the motivation for starting UsherKids. We want to support other children and families to help them develop practical skills with their children in the early days to improve outcomes when they are adults.”

This year, the organisation is being supported by the Melbourne Disability Institute (MDI) Community-Based Research program. The MDI initiative provides research support and evaluates community-based programs that make a difference for people with disability and their families.

The MDI program offers community groups, like UsherKids Australia, a direct link to University researchers – answering questions about a program’s effectiveness and providing data that can be used to improve or grow program services.

Now in its third round, the scheme is supporting nine projects in 2021.

“MDI looks to work with community groups that magnify the voice of people with disability and match them with researchers that can assist them with their important work,” says Campbell Message, MDI Program Manager.

“Usher Kids Australia is a small but vibrant organisation led by parents of children with Usher Syndrome. MDI values this lived experience and recognises that it not only provides rich insights gleaned through personal experience of disability, but also reinforces that the voice of people with disability needs to be central.”

Associate Professor Karyn Galvin, an audiologist and Principal Research Fellow in the Department of Audiology and Speech Pathology at the University of Melbourne, has partnered with UsherKids Australia through the MDI program.

She will help the organisation build links with researchers and more clearly define what supports are most helpful to children and carers at different ages.

Masters of Clinical Audiology and Masters of Genetic Counselling students will support Associate Professor Galvin in her collaboration with UsherKids Australia.

“Including students means we can get more done and it also meets a longer-term aim of UsherKids Australia to educate clinicians more about Usher Syndrome – our students are the next generation of clinicians,” says Associate Professor Galvin.

The researchers will interview families of children with Usher Syndrome to ask them about their support needs and find out what needs are being met and where there are gaps. They will also work to identify barriers that slow the progress of children with the condition.

“The project wants to better understand the support needs of families of children with Usher syndrome so the organisation can provide support in a more targeted way,” says Associate Professor Galvin.

“Clinicians don’t know what support to provide and families may not know what support they need. Families may know that vision loss is coming for their child, but how do you best support that family when they know that is what the future holds? The journey can change when people know what lies ahead.”

Ms Shepard says having the expertise of University of Melbourne researchers supporting UsherKids Australia is “life changing”.

“When Louis was first diagnosed the overall message from services we approached was ‘come back when he is vision impaired’. That was daunting. How do you sit with that for what could be years?” she says.

“I also remember the geneticist telling us they didn’t know much about the condition and to go home and Google it. I’m proud now that families who get this diagnosis don’t have to go through that – if they Google, they will find us.

“The University program will look at the impacts for families and build some evidence to inform better services for our families.

“It has been rewarding to go from being a Mum saying ‘please help us’ to having a university behind us so we can improve services to families that are so desperately needed.”

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