The Brain Charity

Rachel and Phil, from South Liverpool, are the devoted full-time caregivers of their 13-year-old grandson, Freddie. They have been his guardians since he was just 4 years old. Freddie lives with a rare condition called Kabuki syndrome, affecting approximately 1 in 30,000 children. This syndrome brings a range of challenges, including impacts on growth, cognitive abilities, and motor skills.  

Kabuki syndrome is a rare genetic disorder that affects multiple systems in the body, causing distinctive facial features, developmental delays, intellectual disabilities, and a range of medical complications. Named after the traditional Japanese Kabuki theatre due to the facial similarities, the condition is typically caused by mutations in the KMT2D or KDM6A genes, which play a role in gene regulation and development.  

Individuals with Kabuki syndrome may experience hypotonia (low muscle tone), skeletal abnormalities, heart defects, immune deficiencies, and feeding difficulties. While the severity of symptoms varies, early intervention, tailored educational support, and ongoing medical care can significantly improve the quality of life for those affected. 

He also experiences mobility issues, requiring him to wear splints, and battles anxiety, particularly around time. Additionally, he has been diagnosed with Tourette’s syndrome. 

Rachel and Phil are committed to giving Freddie the best opportunities to thrive. They manage the challenges of his medical and developmental needs with determination, always looking for ways to support his progress. Despite the complexities, they take pride in his achievements and appreciate his positive outlook on life. 

Discovering The Brain Charity’s respite services through a social worker 

Rachel and Phil’s connection with The Brain Charity began through a physiotherapist who recognised the potential benefits of our services. Freddie’s grandparents had also previously had contact with our team when The Brain Charity had previously visited his school, Bankview in Speke for dance therapy. Intrigued and hopeful, Rachel and Phil decided to explore how we could support their caregiving journey. 

“We heard about The Brain Charity through a social worker. We were curious to learn more. Freddie attended Brain Changer Arts Project sessions with The Brain Charity over half-term, and we found them invaluable,” said Phil

Freddie’s positive experience and sense of belonging 

During a half-term break, Freddie had the opportunity to join The Brain Charity’s holiday art sessions. Our experienced and compassionate staff immediately put Freddie at ease, engaging him in a variety of enjoyable activities. Rachel and Phil were deeply impressed by how quickly and positively Freddie adapted to the environment. 

The Brain Charity’s brain changer arts project are free workshops that support children and young people with neurological conditions. Using dance for physiotherapy and art for occupational therapy, these sessions make essential therapies engaging and accessible.  Delivered in schools, nurseries, and community settings across Merseyside, the project ensures young people can benefit from innovative therapies while having fun.  

“Freddie was kept busy every day with things that he loved. He had a fantastic time and was already asking when he could go back. The staff were so patient and knew exactly how to support him,” Rachel recalled. 

Crucially, The Brain Charity became more than just a source of respite for Rachel and Phil. It became a place where Freddie felt a genuine sense of belonging. Often anxious about standing out and being ostracized, Freddie found himself welcomed and embraced as part of a community that understood him. 

The invaluable peace of mind for caregivers 

The support provided by The Brain Charity’s team extended beyond Freddie’s well-being, offering Rachel and Phil much-needed peace of mind. The couple, managing full-time caregiving responsibilities, were immensely grateful for the chance to step back and focus on their own well-being, knowing Freddie was in capable and caring hands. 

“The respite was so much more than just a break for us, it gave us peace of mind. It was such a relief to know Freddie was being cared for by people who truly understood his needs and ours,” Phil shared.

“We can’t thank The Brain Charity enough. The respite we received was invaluable & we would recommend The Brain Charity to any parents or carers in a similar situation to ourselves,” Rachel said.