Bethany is almost 18 and we live in Essex in the UK. She was only diagnosed in 2017 after many years of tests and procedures. Concerns were first raised when she wasn’t able to sit unsupported at the age of 8 months old. She was able to sit up by the age of 11 months but showed other delays like a lack of fine motor skills and was happy to crawl everywhere.
She didn’t walk unaided until she was around 2 and a half and even then she had an awkward ataxic gait. She had low muscle tone and delays in speech and had very little spatial awareness. It was thought that she had CP until an MRI at 4 and a half years old showed inflammation within the white matter of her brain.
Genetic and metabolic tests and lumbar punctures all drew a blank. Her scan was sent to Dr Van der Knapp In Amsterdam for a second opinion which also drew a blank. It was put down as being due to an event that happened either before, during or just after birth and was thought to be non progressive. Bethany plateaued for a few years but as she grew her mobility deteriorated further.
She has always had behavioural issues and is currently functioning at around a 5 year old level.
She developed dystonia a few years ago and it has gradually worsened to the point that she has lost the ability to use her right hand. In 2015 she was referred to Great Ormond Street Hospital and an MRI was eventually carried out which showed atrophy of the cerebellum which hadn’t been present at age 4 and a half.
A TUBB4A mutation amongst other things were suspected to be the cause and that’s when we got the diagnosis of H-ABC. Bethany is still able to communicate but is hard to understand unless you know her well.
Bethany lives at home with Mum and her 21 year old brother Reece. She attends the 6th form of a Special Needs School at present. She has some Physio and hydrotherapy at school and we have a close family who do all they can to support us.
Bethany is generally happy although has lots of behavioural issues and gets very frustrated at her limitations. She loves music and her iPad goes everywhere with her !!