“The big thing that has changed during my career has been the development of effective treatment for CLN2 – we can now treat children to help them avoid losing skills.”
Dr Richard Brown shares his story of treating children with Battens disease, and his work to promote early diagnosis.
I’ve been a consultant paediatrician since 2009, having trained in paediatric neurology and neurodisability before then in Guy’s Hospital, London, Cambridge, and Sydney Children’s Hospital. I am the Chair of the OPEN UK national confederation of regional epilepsy networks, so I work with all sorts of people who have a say in how epilepsy services are delivered.
In one of my earliest clinics as a consultant, I met a four year old boy who had been having convulsive seizures, some epileptic drop attacks and some absences for a few months. He walked into my clinic a little stiffly. I had done some research into Batten’s disease during my training, so I thought of the diagnosis and tested him.
With a positive enzyme test, I had to break this terrible news to his family. It was incredibly difficult for them to hear that there was no specific treatment that could save him, and that we knew that children with this condition lost developmental skills very quickly.
He then lived for another ten years, with wonderful support from his incredible family and teachers. Since then, I have looked after another two patients with the disorder, and until recently it was always a desperate situation.
The growing importance of early diagnosis
The big thing that has changed during my career has been the development of effective treatment for this condition – with a diagnosis, we can now treat children to help them avoid losing skills. It has become paramount that we make a diagnosis as early as possible, and this is true not only for Batten’s, but many other genetic causes of early onset epilepsy.
To this end, I have developed a teaching course for paediatricians who are involved in epilepsy diagnosis, to share knowledge about how modern genetic testing technology can be used as early as possible in the child’s journey. Through this route, we hope that unnecessarily delayed diagnosis will become part of history.