Scarlett is 2 years old. She is our beautiful, happy, funny and very cheeky little girl who brightens up our world.

Shortly before her first birthday Scarlett suffered her first prolonged complex febrile seizure. With EEGs coming back normal and having been reassured it was “just” febrile, life continued mostly as normal but with extra bottles of calpol. In October 2022 Scarlett suffered her third and most serious seizure so far. It lasted an hour. It was now time to start ruling things out and Scarlett was referred for full genome genetic testing and MRI.

In January 2023 we received the devastating and shocking news that has changed our world forever. Scarlett has a mutated WDR45 gene consistent with a diagnosis of Neurodegeneration with brain iron accumulation (NBIA), specifically a rare iron storage condition called beta-propeller protein-associated neurodegeneration (BPAN).

In early childhood, symptoms of BPAN include seizures, delay in achieving developmental milestones and intellectual disability. This life limiting condition however is progressive and with time (typically in adolescence or adulthood), affected individuals will deteriorate with symptoms of Parkinson’s disease and dementia.

There is considerable variability in the severity to which individuals with WDR45 gene variants are affected. Some have severe developmental delay and intellectual disability from early childhood. For others, like Scarlett, there may be very few developmental concerns early on. It is not possible to predict how severely Scarlett may be affected or when her condition may start to progress. We take comfort she is currently on the ‘milder’ end of the spectrum and while her life is likely to be shorter, we are determined as a family to ensure her life is as rich and full as possible.

This condition is incredibly rare and there is currently no treatment or cure. We will be raising money in 2024 to help raise awareness and fund research at Great Ormond Street Hospital in the hopes that one day, there may be a cure for our precious girl and others like her.

Thank you so much for your support

Louise and Dave