Our five-year-old has hearing loss and may one day be blind. Here is where I find hope

Ali Stevens’ daughter was a baby when they discovered she has a syndrome which causes deafblindness. There’s no roadmap for change – but what gets her through is the same as for any parent

My daughter Poppy is five. She’s energetic and curious, loves dresses, books and creating new things and spends a lot of time playing with her big sister, Evie.

When Poppy was born, my husband, Ben, and I were focused on the usual joys of welcoming a new baby. A routine hearing screening showed something wasn’t quite right, although initially we were told it was probably fluid in her ears.

Poppy reacted to sounds around her and would startle if a door slammed, so we thought everything was fine. But further testing showed she had hearing loss and would need hearing aids.

It was difficult news, but we adjusted. Meeting people in the deaf community, families further along than us, made it feel far less frightening than the picture in my head. We learned about hearing loss, found the right support and started finding our feet.

When Poppy was seven months old, we decided to have genetic testing. We had been thinking about a third child and wanted to understand what had caused Poppy’s hearing loss and the chances of it happening again. We never expected what came next.

It was during Covid, so the test results came over the phone. I sat on my bed with a notepad, trying to write everything down so I wouldn’t forget. I think the only words I managed to jot down were “Usher syndrome”.

Usher syndrome type 2A is a rare inherited condition that causes hearing loss and progressive vision loss. It’s the leading cause of deafblindness in Australia and impacts about 1 in 6,000 children. Children are typically born with hearing loss, and then progressively lose their vision during their adolescence and early adulthood. There is currently no treatment for the vision loss.

The diagnosis landed like a second wave of grief.

It also settled the question about expanding our family: we decided against a third child, so we could focus our time, attention and resources on Poppy and Evie, and be ready for whatever the unknowns bring.

The guidance we were given was very broad, and it’s a bit of a blur. Essentially, it was “here’s the diagnosis, we’re so sorry, we’re here if you need us”. We have been told night vision problems typically start in the teens, and that her peripheral vision might narrow significantly around her 30s, though it varies.

For a while we buried our heads in the sand about the vision part. It felt like a problem we could tackle down the track and we’d only just started coming to terms with Poppy’s hearing loss.

With this new diagnosis, once again, we had to re-map all the things we had assumed our child would be able to do as she grew up. Would she be able to drive, study, work and travel independently? What would losing her sight mean for the choices she’d be able to make? What would it mean for our family?

But we’d been here before. After Poppy’s hearing diagnosis our minds had filled every gap with the worst possible version, until the deaf community talked us back down. We’d found our footing once. We knew we’d find it again.

A conference run by UsherKids Australia in Melbourne helped. A panel of teenagers and young adults living with Usher syndrome talked about their lives, some of them travelling the world, and told us what helps and what doesn’t. There were scientists, an audiologist, and advice on accessing the NDIS.

It helped us see that, while Poppy’s life will look a little different from her sister’s, she can still have friends, travel and study.

But the uncertainty hasn’t gone away. Almost five years on, Poppy’s future still riddles us with anxiety.

Nobody can tell us exactly when Poppy’s vision will begin to deteriorate, or how quickly. Right now, she shows no signs of vision loss, and she’s getting on with life like any other five-year-old. But Ben and I know what may be ahead of her. I’ve described it as a ticking clock: she can see now, but we don’t know when that might start to change.

Every parent lives with some version of this, a future they can’t control.

Parents start planning early. We imagine the “fourth trimester”: the kind of parents we’ll be, the kind of child we’ll have. For us, two diagnoses meant rewriting all of that. You can get stuck in grief, asking “why us?”, or you can shift your expectations and draw on the resources you have. We were fortunate to have the support and resilience to roll with the punches. A sleep regression passes, but this is a forever thing. So, we adapt every day, to give Poppy the best shot at thriving.

My way of coping has always been to go digging for more information, to understand what we’re facing. It’s what stops my anxiety filling in the gaps.

We don’t have a roadmap on what to tell Poppy, when or how, so we’re taking it as it comes. When she eventually has an appointment with an ophthalmologist, we’ll talk about checking how her eyes are working, the same way we talk about her ears. It isn’t something we’re avoiding. It’s just information a five-year-old doesn’t need to carry.

What gets me through is what gets every parent through: hope.

The research puts that hope firmly in sight.

Living in Melbourne, we don’t have to look far to see what medical research can achieve. In 1978, Graeme Clark and his team used their multichannel cochlear implant to produce hearing sensations in an adult with total hearing loss. That technology went on to transform hearing for people around the world. For families like ours, living with Usher syndrome, that history means a great deal.

Now we need the same progress with sight.

At the Centre for Eye Research Australia (CERA), also in Melbourne, scientists are working on gene and cell therapies for the vision loss in Usher syndrome. Until very recently, a treatment was considered impossible. Rapid advances are now putting new treatments in sight.

Recently, CERA’s head of genetic engineering, Prof Rick Liu, founded a spinout company, Adara Bio, which is developing a new RNA-editing platform called EDITRA.

Poppy’s type of Usher syndrome comes from a tiny spelling mistake in her genetic code. The faulty gene that causes vision loss is too large to fit into current gene therapies, which replace the damaged gene with a correct copy. Instead, EDITRA aims to fix the mistake by editing it with a treatment delivered to the eye in a single injection.

Prof Liu and his team are starting with Usher syndrome 2A because there’s currently no treatment available for children like Poppy. It’s still in the lab. But if it works, it could mean Poppy keeps her sight. About 19,000 Australians are affected by inherited retinal diseases like Usher syndrome, which are the leading cause of blindness among children and working-age adults.

We know there are no guarantees with research, and we don’t know whether a treatment will be available in time for Poppy. New treatments take years of work, and not every idea succeeds. But Melbourne’s experience with the cochlear implant shows why that work is worth doing: every piece of research becomes part of the chain that eventually leads to a treatment for Usher syndrome. I still believe that.

Poppy is five and has her whole life ahead of her. A cure wouldn’t change much for us today, but it would change everything about her future. It would banish the ticking clock that’s constantly there, and expand the possibilities for what that future could be.