Ivy'v Story What care and support is available for those with deletion 22q11 syndrome?


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Understanding the diagnostic odyssey experienced by families impacted by 22q11.2 deletion syndrome

Research Study

Cardiff Univ researchUnderstanding the diagnostic odyssey experienced by families impacted by 22q11.2 deletion syndrome

Would you like to get involved in a research study? Are you a parent or carer of a person with 22q11.2 deletion syndrome?

If so, you are being invited to take part in a research study, looking at your experience of obtaining a diagnosis of 22q11.2 deletion syndrome in the UK for your child.

https://www.maxappeal.org.uk/research/cardiff_uni._understanding_diagnostic_odyssey Right Arrow

Research has shown that people with 22q11.2 deletion syndrome can wait up to 20 years for a genetic diagnosis. We are interested in speaking to parents and carers of people affected with the condition, and hearing their experiences of the UK healthcare system. We are particularly interested in learning about your journey towards obtaining a diagnosis for your child, and how this could have been improved. The information collected could inform healthcare practice in the future, and improve the support given to families.

The research would involve a 1 hour long interview with a researcher, with no further commitments after this. This can either be done online via a video call, over the telephone, or in person somewhere local to you. It is up to you how you would prefer this to be done. This interview will ideally take place before February 2020. Short segments of what you say may be quoted in the results, however, your name, or any other personally identifiable information will never be mentioned.

This research is being undertaken by Hannah Knight, an MSc student in Genetic and Genomic Counselling at Cardiff University, under the supervision and guidance of Dr Michael Arribas-Ayllon, a social scientist at Cardiff University.

If you are interested in the study and/or wish to find out more, please contact Hannah Knight, at KnightH2@cardiff.ac.uk and we will be happy to answer any questions you may have. If you then wish to take part, we will send you a Participant Information Sheet with further information about the study, as well as a consent form.

(Jan 2020)