EB’s impact on education

The school years are such an important part of our lives – not just for the learning opportunities, but for building relationships, developing our identity, and imagining our future. Navigating this period can be fun and exciting, but also stressful. I know this from my own experiences, but also as a daughter, sister, and a wife of teachers, and as a mum myself! I am interested to hear what it’s like to balance all of the above whilst also managing a significant health condition like EB.

What would taking part in your project involve?

If you’re aged 16-25 years old or are a parent/carer of a school-age person with EB, please consider sharing your experiences with me in an online conversation.

What difference will your work make to people living with EB?

The team at DEBRA UK highlighted educational journeys as an area where they need to know more in order to best support their members. As far as we are aware, until now there has been no research carried out specifically into this topic in the UK. Similar projects carried out in other countries are hard to compare directly to here, because both education systems and healthcare systems vary greatly in accessibility, affordability, and quality across the world. I hope that my research will enable people living with EB to have their voice heard about the issues that matter most to them during a really significant phase of life. Through sharing my findings, I will also raise awareness of EB to the wider genetic counselling community.

Who/what inspired you to work on EB?

I am currently training to become a genetic counsellor. Genetic counselling aims to help people understand and adapt to the medical, psychological, and family planning implications of genetic conditions in their family. I came into the world of rare disease having spent several years working in specialist paediatrics, seeking something where I could combine my interest in science and medicine with the pull towards a helping profession. Our training involves both understanding the complexities of genomics and technical aspects of testing, as well as advanced counselling skills to support the often emotionally challenging nature of genetic conditions.

I spend lots of time familiarising myself with various rare genetic conditions, hoping to understand at least a little of what it’s like to be diagnosed with, and then live with, such conditions. This helps me to better support patients. I first came across EB by doing this. Reading the stories of the EB community on the DEBRA UK website gave me an insight into the lives of people living with EB, including both their challenges and their triumphs. The resilience and determination shown throughout the stories was really powerful. When  the opportunity to work with the EB community on the project came up, I knew very quickly that this was where I wanted to focus.

What does working with DEBRA UK mean to you?

Working with DEBRA UK enables me to connect directly with the EB community. This is really important given the rarity of the condition, and means that I know I am researching something that is of real importance to people living with EB. The subject of my research was suggested by the DEBRA UK team, who felt this was an area that more needed to be known about. Knowing this really helps me to stay motivated, as I believe it will genuinely benefit everyone involved.

What does a week in your life as an EB researcher look like?

My week is split between studying, researching, and working in the NHS.

I am carrying out my research as part of my MSc in Genetic and Genomic Counselling. This is my third and final year of study before I graduate. Right now, I am immersing myself into the world of EB to better understand what life is like for people living with the condition. I spend lots of time searching for and reading published literature on EB, as well as other skin conditions, to build my background knowledge.

I spent the summer developing and seeking ethical approval for my own research project, and since then, have been interviewing people living with EB to hear their experiences first hand. You can read more about my project here and perhaps even get involved! From this, I will be able to write my own research paper and share the findings with DEBRA UK and their members, as well as others across the world of genetics and education.

The rest of my week is spent working in the NHS in molecular pathology, helping to identify people who have been diagnosed with a cancer that may have an inherited cause. Finding out this information can help ensure their families have access to extra care going forward and are able to detect cancer at earlier stages.

Who’s on your team and what do they do to support your EB research?

My team is small – just myself and my supervisor, Professor Fiona Wood. Fiona is a medical sociologist and experienced researcher, interested in public and patient beliefs regarding certain health conditions.