When a child is diagnosed with Usher syndrome, families can be left feeling overwhelmed and alone. EMILY SHEPARD and HOLLIE FELLER discuss why they have made it their mission to help families like theirs.
Usher syndrome is an inherited condition characterised by congenital hearing loss or deafness, progressive vision loss due to retinitis pigmentosa (RP) and, in some cases, vestibular dysfunction. It is the most common cause of deafblindness, affecting an estimated 400,000 people across the globe.
There are three types of Usher syndrome with more than 13 genetic changes or mutations identified.
If the cause is confirmed through genetic testing, this can provide a more definite diagnosis on the syndrome, leading to a better understanding of whether the eye condition is more likely to remain stable or deteriorate. Once confirmed, a genetic diagnosis can also inform family planning decisions and eligibility for enrolment in possible research and clinical trials.
For many inherited eye diseases, including Usher syndrome, there have been no proven treatments to stop vision loss. However, it is exciting to see advances in gene and stem cell therapies that could potentially improve the quality of life for people with these conditions in future.
In the absence of such interventions, it’s vital individuals are regularly reviewed by their orthoptist, optometrist and/or ophthalmologist to check for associated eye conditions. It’s also important they maximise their residual vision with aids, adaptive technology and utilise vision support services.
While there is plenty of hope and support for families affected by an Usher syndrome diagnosis today, it hasn’t always been that way.
As two parents of young boys with the condition, we were both devastated by our sons’ diagnoses and went to great lengths to gather information and recommendations from specialists.
But with no specific support group in Australia, we travelled to an International Usher Syndrome Symposium in the US where we became motivated to improve the support and communication network for families here.
We established UsherKids Australia, a not-for-profit charitable organisation, in 2016 as a parent-led support group to enhance the lives of children diagnosed with Usher syndrome and their families.
Our mission is to ensure they have access to informed, committed and caring clinicians, service providers, educators, researchers and peer support networks to allow them to thrive in their daily endeavours. The organisational aims stem from our founding principles:
To identify all with Usher syndrome to assist the collaboration of research efforts both in Australia and globally.
To educate by providing information to newly diagnosed families, as well as educating healthcare professionals, educators and support staff on the needs of children to maximise inclusion and best clinical practice.
To support families, children, siblings, healthcare professionals, communities, sporting clubs, schools, service providers and those involved in the care and education of these children to ensure they have the knowledge, resources and skills to help them thrive.
Advances in genetic and genomic testing make earlier diagnosis of Usher syndrome accessible to more and more children born with hearing loss. This leaves a distinct gap in the provision of services and support for families, as well as an evidence-based clinical pathway for clinicians to guide their care for these children.
Earlier diagnosis of children with Usher syndrome can also occur before the onset of the functional impact of RP. This creates an opportunity to provide children with the building blocks to cope with the deterioration of their vision loss. The long-term goal is to better equip them to engage in education, employment and community activities, increasing their independence and quality of life into adulthood.
UsherKids Australia will host a Transitions Conference in September 2020, either in Sydney or virtually (depending on COVID-19 recommendations), bringing together families and professionals involved in the care, education, and support of children with the condition. It will explore the strategies of better managing crucial stages of transition, such as to and from early intervention, to and from primary and secondary school, as well as into higher education and the workforce.
When families are given a new diagnosis they may feel overwhelmed and alone. Clinicians may like to refer families to UsherKids Australia and/or our website for information and available services.
ABOUT THE AUTHORS
EMILY SHEPARD is a cofounder and Director of UsherKids Australia. She is committed to improving the lives of children with Usher syndrome and their families by supporting and guiding parents when they’re most vulnerable.
HOLLIE FELLER is a co-founder and Director of UsherKids Australia. She is a fierce advocate for early diagnosis through genetic testing, education of clinical professionals, as well as support for families to share research and information about the current generation of kids with Usher syndrome. Visit: www.usherkidsaustralia.com