Holly and Max Battle Batten Disease

In December 2022, our darling children, Holly (4) and Max (1) were diagnosed with CLN2 Batten Disease.

CLN2 disease is an ultra-rare and rapidly progressing incurable pediatric brain disorder, affecting only 30-50 children in the UK. Children with CLN2 disease produce deficient levels of the enzyme TPP1. Without enough of this enzyme, children are unable to clear waste from cells, which in turn accumulates in organs, particularly the brain and retina, contributing to the loss of cognitive, motor and visual functions.

CLN2 disease is autosomal recessive, meaning both parents of an affected child have a specific mutation on their TPP1 gene. James and I were confirmed to both be unaffected carriers of the same mutated gene, which means any of our children have a 25% chance of receiving both copies of the mutation and inheriting Batten Disease.

Affected children like Holly and Max will live a relatively normal and healthy life until around the age of 3, at which point they can suddenly experience seizures, language delays and difficulty coordinating movements. Holly began experiencing seizures in May 2022 and was shortly diagnosed with a complex form of epilepsy, followed by noticeable developmental delays and periods where she became unsteady on her feet.

The condition rapidly progresses to dementia, the loss of the ability to walk and talk, and blindness. By age 6, most affected children will be completely dependent on families and caregivers. Life expectancy for children with CLN2 disease is between just 6 and 12 years old.

In 2019, an enzyme replacement treatment was approved for use by the NHS under a 'Managed Access Agreement'. The drug is infused directly into the brain via an implanted device that has been shown to restore enzyme activity and slow the onset of disability. Shortly after diagnosis, Holly and Max both underwent surgery to enable them to receive infusions at Manchester Children's Hospital every fortnight. In November 2023, we made the difficult decision to stop Holly's treatment as the disease had already progressed significantly. Max continues to receive regular infusions and is responding well to treatment. Due to early diagnosis, he does not have seizures, can communicate well, run around the park, and is progressing in his development.

The Batten Disease Family Association supports families and professionals who work with them as well as actively increasing awareness of the disease and funding future research to identify potential therapies and ultimately a range of cures. All money raised via this page will be donated directly to the BDFA, to support the invaluable work they do for families like ours.

Thank you for reading and for your support,

Emily, James, Holly & Max