Today is Rare Disease Day 2022 and we are celebrating by attending two significant events. UsherKids Australia Director Hollie Feller is hosting the Genetic Support Network of Victoria (GSNV) Rare Disease Day virtual event in her role as the Project Officer of the GSNV. The event is exploring “Global Themes, Local Action” where themes identified across the international environment will shape and inform the challenges Australian Genetic, Undiagnosed and Rare Disease communities will face in 2022.
Director Emily Shepard is representing UsherKids Australia at the National Patient Organisation Network Conference which aims to increase awareness of the pivotal role and services provided by patient organisations, as an integral part of the health system, and their unique role as advocates.
Last week, we also attended the inaugural Genetic Support Network of Victoria Parliamentary Event which was an opportunity to engage Victorian Members of Parliament on the needs and action required for the genetic, undiagnosed and rare disease community (GUaRD).
Are you the parent or carer of a child living with Usher syndrome Type 1?
We are recruiting research participants to be interviewed in a University of Melbourne study exploring parent/carer support needs.
Who can participate?
Parents or carers of a child who has Usher syndrome Type 1 and who is aged between 9 and 18 years.
What would you need to do?
Discuss your experiences and support needs in a one-hour online interview.
What is this research about?
This research is about understanding the experience of parents/carers of children with Usher syndrome in the period between birth to 5 years of age. We would like to ask parents about the experiences they had during this early period and their needs for support.
Based on the information we collate from our participating parent/carer group, we will be able to identify ways in which parents/carers can be supported more effectively.
Your thoughts on genetic testing for inherited retinal diseases
The Centre for Eye Research Australia (CERA) invites people living with inherited retinal diseases and their parents or guardians to share their views and opinions about the experience of genetic testing.
Inherited retinal diseases (IRDs) are the leading cause of blindness in working age adults. CERA researchers are working to advance the scientific understanding of IRDs, as well as striving to develop potential treatments.
To help researchers better understand the experiences and value of genetic testing, CERA are inviting anyone who is living in Australia with an inherited retinal disease and who has completed genetic testing to take part in this survey.
They are also seeking input from carers or parents of a child or dependent with an IRD, where that dependent has received genetic testing for their eye condition.
By answering these questions, you will share your lived experience and unique perspectives and help our researchers better support people with IRDs – particularly those who will choose to have genetic testing in the future.
This project is a collaboration with the University of Melbourne and has been approved by the University Human Research Ethics Committee.