Hearing your genetic diagnosis journey
My name is Anna Rideway and I’m a final year MSc student studying Genetic and Genomic Counselling at Cardiff University.
An MSc degree is a qualification that can be obtained after completing an undergraduate degree and is required training to become a genetic counsellor. This is me working on my lab project studying the genetic basis of inherited eye conditions.
Which aspect of EB are you most interested in?
I’ve always been very interested in the genetic causes underlying the symptoms people experience with different genetic conditions which is what inspired me to study human genetics for my undergraduate degree. I’ve also always wanted a career that involved working with people which brought me to genetic counselling.
I’m enthusiastic to know how people engage with genetic counselling, how people experience having different genetic conditions and what their diagnostic journey was like. I’m particularly interested to learn about these topics from people who live with and have received a genetic diagnosis of EB given that it is such a rare condition.
What difference will your work make to people living with EB?
I was drawn to EB because I noticed that EB has rarely been mentioned or used as a teaching example during my training to date. Additionally, whilst peoples’ experiences of day-to-day life with EB have been studied to some degree, there is currently no research on peoples’ experiences of the genetic aspect of EB in Ireland and the UK.
This research topic will highlight experiences of having a genetic diagnosis, what this genetic diagnosis means to people living with EB and their families, how the genetic aspect of EB impacts life decisions and how the EB community could be better supported throughout their diagnostic journey. By understanding this, and highlighting these experiences, I hope that EB will be better recognised in the future and used more as a key example in genetics training.
Additionally, this research will help to raise awareness of EB and shine a light on how and if genetic counselling and testing is accessed in Ireland and the UK, which may point to ways in which diagnostic pathways could be improved.
Why did you choose to work with DEBRA?
In order to investigate the experiences of having a genetic diagnosis of EB, I knew I would need help from DEBRA Ireland and DEBRA UK to design the research project and recruit participants.
From the outset, DEBRA have been very encouraging and I knew I could rely on their expertise to support me as I conduct this project. I first heard about DEBRA through their amazing lived experience advocates who take part in fundraising events and appear on television raising awareness of EB. I’ve since followed them on social media platforms and they have fuelled my motivation to better understand EB, better understand the experiences of people living with EB and finally, to raise awareness of EB.
What would taking part in your project involve?
My 2025 project with DEBRA Ireland and DEBRA UK invites adults who have a genetic diagnosis of EB and parents of children who have a genetic diagnosis of EB to participate in an online, relaxed interview to share their experiences with me. The online interview will take approximately an hour and each person’s story will help me to better understand EB from the perspective of those living with it.
If you are interested in getting involved, please get in touch with me at ridgewaya@cardiff.ac.uk.
How do you relax when you’re not working on your EB research project?
When I’m not doing college work, I really enjoy meeting my friends for coffee, going for long walks and getting dressed up to go out for dinner.
When I can, I love to travel and go sightseeing. I enjoy running in the city and the countryside and recently completed a trail run fundraising for Fighting Blindness Ireland.
I also love to read and have just finished Emma Fogarty’s amazing autobiography. Her story of living with EB has been extremely motivating for me as I conduct this research study.