“It is a privilege for me to work with our amazing patients, such a dedicated group of parents and the team at Great Ormond Street Hospital”

Paul Gissen, Batten disease consultant, tells us the story of working with families and what it means to him

Batten disease is not something we learn about in the Medical School. I first came across patients with Batten disease when I trained as a junior doctor in the mid-90s at Manchester Children’s Hospital where these and other patients with lysosomal storage disorders were looked after by Dr Ed Wraith, world famous paediatrician with great charisma, huge amount of knowledge and someone who always had patients’ and families’ interests at heart.

Treatments for incurable diseases

I did my PhD in Birmingham where I focused on understanding disease genes that control transport of chemicals inside cells. This research prepared me well for the understanding of processes that go wrong in Batten disease where abnormally transported chemicals get stored in the lysosomes.

My dream was always to be able to develop treatments for patients with incurable diseases and I was very happy to get involved in the BioMarin sponsored clinical trial of enzyme replacement in CLN2 type Batten disease. Obviously, the trial went well and I am honoured to be involved in transitioning this therapy into the NHS.

Amazing patients and parents

It is a privilege for me to work with our amazing patients, such a dedicated group of parents and the team at Great Ormond Street Hospital.

I have many happy memories of working with BDFA. My highlight is winning my weight in wine at the charity sports quiz. I always knew that the knowledge of Matt Pinsent’s winning margin in the Atlanta Olympics race would come in handy one day.