“The children and young people I have worked with, alongside their parents and carers, have taught me so much,”

The inspirational Laura Lee is a Clinical Nurse Specialist at Great Ormond Street (GOSH), working with children and young people with Batten disease. She tells her story and what she loves about her role. Laura works closely with the support team at the BDFA and the BDFA works in partnership with GOSH, part funding the CNS role.

Hello! For those of you who don’t know me, I am Laura, and I am currently in the privileged role of Clinical Nurse Specialist (CNS) for children and young people with a diagnosis of Batten disease. I am based within the Metabolic team at GOSH and work closely with the BDFA support team.

Helping families

I trained as a paediatric nurse in Guildford, Surrey in 2008 and subsequently worked in general paediatrics, neurology and neurosurgery before becoming a research nurse at GOSH. It was here that I was lucky enough to meet some wonderful families who have children affected by CLN2 Batten disease and were participating in the BioMarin clinical trial of Brineura. I have always loved working with children with complex disabilities and epilepsy and acted as a link nurse for these specialities in my previous role. When I saw the advert for a CNS specifically for Batten disease I jumped at the opportunity and haven’t looked back.

This role allows me to support families by enhancing their understanding of the diagnosis and changes their child experiences, advocating to ensure they can access everything they are entitled to and supporting them to navigate health services. I also hope to empower local teams in managing patients with a diagnosis of Batten disease by working together, sharing knowledge and linking professionals.

Sharing knowledge

The children and young people I have worked with, alongside their parents and carers, have taught me so much over the last eight years. I frequently use your experiences to support other families, particularly those receiving a diagnosis today, and I am extremely grateful to each child and family for allowing me to learn alongside them. I find immense satisfaction in being able to play a small role in helping families navigate such a difficult path.

I have had the privilege of working alongside, and learning from, many incredible professionals who have been dedicated to improving the lives of those impacted by Batten disease for decades. I’ve also had the opportunity to travel to conferences around the world to learn from experts and share my own experience. I am grateful to work alongside such a supportive team who have helped establish the CNS role over the years.

Improving research and services

During the time I have been in this role we have seen the first approved therapy for any form of Batten disease transition from research to an NHS service as well as seeing the number of potential trials for other forms of Batten disease multiply. We are also seeing clinical and support services expand, which is important for children on therapy, but equally important for children for whom an approved therapy or research trial is either not right or not available.

I find the resilience and unique strengths of each individual affected by Batten disease inspiring. Thank you all for letting me be a part of your journey.