In a pivotal moment for the organisation, UsherKids Australia is thrilled to share a new research publication exploring the support needs of parents of young children with Usher syndrome.

Over the past decade, UsherKids Australia has undergone a transformative journey, marked by significant progress and a steadfast commitment to supporting families affected by Usher syndrome in Australia. From humble beginnings, cofounders Emily and Hollie experienced feelings of isolation and felt overwhelmed by the daunting diagnosis of their children. They have evolved into a leading force in research and advocacy, dedicated to ensuring that no parent ever experiences the same sense of fear and isolation they once did.

Advancements in genetic testing have led to Usher syndrome now being diagnosed at a much earlier age than in the past, enabling the provision of early intervention and support to children and families. Despite these developments, anecdotal reports suggest there are substantial gaps in the services and supports provided to parents of children with Usher syndrome.

In collaboration with the University of Melbourne, University of South Australia and the Centre for Eye Research Australia, UsherKids Australia led a research study exploring the support needs of parents of children with Usher syndrome. The qualitative thematic analysis unveiled four central themes: Social Needs, Informational Needs, Practical Needs, and Emotional Needs.

Social Needs: Parents of children with Usher syndrome face isolation due to the rarity of the condition. They struggle to connect with others facing similar challenges and often feel alone in managing their child’s complex needs. They described substantial benefits to connecting with other parents of children with Usher syndrome and identified support groups to be useful in facilitating such connections.

Informational Needs: Parents reported dissatisfaction with the level of knowledge among medical professionals regarding Usher syndrome. They felt they are required to educate healthcare providers about the condition and appropriate management strategies.

Practical Needs: Managing Usher syndrome requires coordination among various healthcare professionals, scheduling numerous appointments, and implementing treatment plans. Parents often need to navigate complex healthcare systems and seek funding for therapies. Case coordination and collaborative care can remove burden from parents.

Emotional Needs: Parents experience significant emotional burden upon receiving the diagnosis of Usher syndrome in their child. They face grief, uncertainty about the future, and
pressure to engage in early intervention strategies to maximize their child’s development potential.

The study’s findings shed light on the challenges faced by parents of children with Usher syndrome and highlight the urgent need for tailored support services. Understanding the support needs of parents can lead to the development of evidence-based recommendations, effective tools, and programs to assist this vulnerable population. It is a significant step towards enhancing the quality of life for families impacted by Usher syndrome globally.

To read the full article, please visit:

https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03125-w

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