GSNV Research

Living with a Genetic, Undiagnosed and Rare Disease through the COVID-19 Pandemic: A Longitudinal Journaling Study

GSNV Research Summary

Summary Authors:

  • Stephanie Best Australian Genomics
  • Malia Byun Californian Lutheran University
  • Inez Beadell Master of Genomic Health
  • Monica Ferrie CEO GSNV
  • Hollie Feller Project Assistant GSNV

The GSNV, in collaboration with Australian Genomics continued their work on the longitudinal study of the impact of COVID-19 on GUaRD community through the study of monthly journals submitted across a 12 monthly period in 2020-21.

We received on average 10 journals a month. Data analysis, using a Resilience framework, identified three key time related areas of support that would be of benefit for many in the Genetic Undiagnosed and Rare Disease community. We have referred these findings as waves of support as they were identified at different points in the pandemic.

1st wave – Facilitate finding a framework to structure day-to-day life:
This support was found in journals right from the start as people’s lives were turned upside by the pandemic and with lockdowns. We did not see it later on as people got into their stride.

2nd wave – Consistency of communication of health information:
This finding came in a little later and the topic of the health information varied though towards the end of our study.

3rd wave – Support for mental wellbeing:
This finding came in later in our data collection period. We found a need for mental wellbeing support across all age groups which is different to previous studies.

We have subsequently written up the findings and submitted them to an academic journal where it was published in October 2021. (Byun, H. Feller, M.Ferrie, M. Best, S Living with a Genetic, Undiagnosed or Rare Disease: a longitudinal journaling study through the COVID-19 pandemic Health Expectations

From the C-19 journals study we could see many members of the Genetic Undiagnosed and Rare Disease community had a range of strategies to help them in their day to day lives whether during a global pandemic or not. We were curious to investigate these strategies further.
As a result, the Interventions to ‘Live Well’ study was started. We re-analyzed the journals to identify these strategies and grouped them by:
• Support for individuals with GUaRD – including mental wellbeing
• Support for carers of people with GUaRD – including mental wellbeing
• Education/Employment – support for people with GUaRD to find education and employment
• Transition – transitioning to adulthood/out of NDIS

We held three focus groups with 13 people from the Genetic Undiagnosed and Rare Disease community in September 2021 to

i) discuss benefits and challenges of the strategies found in the journals and

ii) see if there were further approaches we should consider.

The findings from these vibrant discussions have been fully transcribed and data analysis has been submitted to be published in relevant peer reviewed journals. Successful publication of the findings will be shared with the community once we have been notified.

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