Joe Butt – Unique Volunteer

Throughout my education, I’ve come across Unique many times. Studying genetics at university, I learnt about the many conditions that affect families across the world. The online guides made by the team at Unique are not only helpful to the families affected by rare genetic conditions, but they are also incredibly helpful to people working and studying in the field of clinical genetics. I found the guides so helpful for explaining many conditions, helping me understand how they affect people in different ways. The added stories of families’ experiences only deepened my interest in working with people affected by unique genetic conditions.

I have always had a fascination with genetics. This deep interest has led me to study medical genetics at university, and pursue a future career within the NHS as a clinical scientist. My studies taught me much about the structure of DNA, the variations in DNA sequences that lead to differences in people and the medical conditions that can sometimes occur. However, during my studies I realised that I had no idea of how this affects real people. I understood how DNA variants can cause changes but I didn’t understand how this impacts the day to day lives of families. This is where I found Unique and their invaluable online resource of guides. Understanding how a condition occurs is one thing, but understanding how this impacts people gives you an entirely new perspective. Reading the guides on conditions such as FOXP2 syndrome and Emanuel Syndrome, with the added quotes from real families affected by these conditions, highlighted to me the personal aspect of clinical genetics that many students at university may not fully realise. As I was so amazed at the breadth of information and often personal nature of Unique’s guides, I felt that I had to volunteer for the charity.

I first volunteered with Unique around last February and I have enjoyed the experience ever since! I was warmly welcomed by Sarah, the CEO, and Claire and Anna, who are both scientific communication officers. I was initially amazed at how small the organisation is, for so few people to produce so many guides is an achievement, not to mention the invaluable support for families they provide and the events that are organised by the team. They suggested that my skills were best suited to update online guides which focused on rare single-gene conditions, as some of the details on these conditions had likely changed. I have to admit I was quite nervous at first, particularly as the quality of Unique’s work is so high. However, Claire and Anna were amazing at showing me the ropes, and within a week I was already updating my first guide. My first guide focused on the single-gene condition known as GAND, and it was initially a real challenge to collect all the information from scientific research. Within a month, and with lots of help, I finished updating GAND, and it was ready to be reviewed by a professional volunteer. I have since helped update further guides on rare single-gene conditions and I have no plans to stop helping.

From my experience so far, I have learnt so much from the team at Unique. It has also been a privilege to help contribute to the charity’s cause, even in just a small way. Even though I have big aspirations to follow a job in clinical genetics, my respect for the charity and the team, as well as my interest in helping support families, I plan to continue volunteering for as long as they want me!