On 10th June 2023, a group of friends and family of Emily and James Weston, are taking on the Acorn Amble in aid of the BDFA, after their children, Holly (4) and Max (2), were recently diagnosed with Batten disease.

The Acorn Amble is a 22 mile walk from Castleton, Derbyshire to Burncross, Chapeltown and we would love for you to sponsor the team in taking on this challenge! Any donation, no matter how big or small will aid the BDFA with their commitment to fund future research into the disease and ultimately find a cure.

You can read more about Holly and Max's story below.

Thank you for reading and for your support,

Team Weston!

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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 a genetic condition, 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. Holly and Max have both undergone surgery and will receive infusions at Manchester Children's Hospital every fortnight.

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.

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Team Members:

Emily Weston, James Weston, Sarah Weston, Joe Forrest, Nick West, Ian Merity, Zoe Merity, Matthew Holmes, Dan Ridley, Dan Stamp, Kristy Burton, Ian Stackhouse, Kevin Hulme, Roisin Hulme, Will Frazer, Nicole Beresova.