Usher Syndrome is the most common cause of genetic deafblindness, affecting the hearing and vision of around 400,000 people worldwide.

On Usher Syndrome Awareness Day, we share perspectives from NextSense Ambassador Katie Kelly—a two-time Paralympian and disability inclusion advocate. Katie is also the founder of Sport Access Foundation, which provides grants for young Australians with disability to access sport.

We also talk to Laura Harper, a NextSense physiotherapist, about the benefits of physical activity for people with deafblindness, and the importance of having access to the right supports.

There are three different types of Usher Syndrome that can affect hearing, vision and the vestibular system (which helps control balance). It is an inherited condition, with nine genes currently known to cause the different subtypes of the syndrome. While there is currently no cure, early diagnosis and intervention are important for improving the quality of life of people living with Usher Syndrome.

Not-for-profit organisation UsherKids Australia has a range of resources and information on their website about Usher Syndrome.

We’re proud to have been working with Katie since 2016, when she came on board as a NextSense Ambassador.

Katie’s hearing loss wasn’t identified until she was about five years old and at the time, her doctors weren’t sure about the cause. It wasn’t until she was 21 that she sought help for problems with her vision, and was diagnosed with Usher Syndrome.

The news was a shock, but Katie says she knew she’d be OK, because she had already learned to live with hearing loss.

She has since dedicated her time to improving access to sport for young Australians living with a disability and supports a range of foundations and not-for-profit organisations supporting inclusion, access and disability.

She’s a tireless advocate, helping to give a voice to those who don’t always have one, including on important issues such as rideshare refusal for people with guide dogs—a practice that is both discriminatory and illegal.

For Katie, having the right support removes barriers to success for someone with Usher Syndrome.

‘We all have a right to live to our full potential in our education,’ she says. ‘A right to meaningful employment, a right to community, play and sport. If you have a vision or hearing loss you need additional support to close the gap to ensure there’s equity in terms of your potential and opportunity to succeed.’

Just as important, is being able to see yourself represented, Katie says. She has set about demonstrating what success can be, competing as a high-performance athlete for seven years and winning Australia’s first Paralympic gold medal at the 2016 Paralympics in Rio in the triathlon. Most recently, she has taken to the commentary box, providing insights on the 2024 Paralympics for ABC Sport.

NextSense physiotherapist Laura Harper works with children who have hearing loss, vision loss and deafblindness (when it is hard for vision to compensate for hearing loss, or vice-versa). This includes people who have Usher Syndrome. Laura’s recent review of the research literature on physical activity for people who are deafblind concluded that access to a trained therapist to learn fundamental early motor skills is critical in preparing children for a lifetime of physical activity.

Evidence shows that the benefits of physical activity for people with deafblindness are wide-ranging, include promoting language use, orientation and mobility skills, balance skills and helping with symptoms of depression and bone health.

While the research also shows that people with deafblindness face barriers to participating in physical activities, it reveals that many of these barriers can be overcome provided that the right supports are in place.

In addition to having assistance from professionals trained to work with people with deafblindness, it is important that they are also able to access adapted equipment and inclusive recreational or social groups.

The physiotherapists at NextSense teach these skills to children and young people with a wide range of ages and abilities, and support families to find activities that will motivate their child to stay physically active and participate in their community. This may include working on balance skills and early motor milestones, accessing equipment, practicing running with modifications, trialing a tandem bike for use in the community, increasing walking distance in the park or at the beach, or finding ways to exercise as part of a group.

'We know children with Usher syndrome require an early intervention team from a range of disciplines in their corner to support language, balance and motor skill development, orientation and mobility skills, information access, daily living skills and to provide support at transition times', says Laura.

'The great news is that children with Usher Syndrome can benefit from regular, supervised physical activity, their early balance skills can improve with support from a physiotherapist, and modifications can be made to exercise routines when sensory abilities change.'