The Brain Charity

Mum-of-two Christine went her whole life not understanding why she felt different.

The 66-year-old had experienced muscle tremors, jerky limbs and unexplained falls since childhood, but it took her 34 years to be diagnosed with hyperekplexia (HPX). 

The extremely rare genetic neurological condition causes balance issues, jerking movements, extreme muscle rigidity, unstable walking, cognitive difficulties and exaggerated startle reactions.  

Christine had been variously told her symptoms were due to growing pains, clumsiness, postnatal depression and mental illness – so to be finally given a diagnosis by a neurologist was life-changing.  

HPX is caused by a mutation to multiple genes controlling the nerve receptors in the brain.  

Grandma-of-five Christine said:

“Over the years I had so many tests and MRI scans, but no one was able to give me a diagnosis.  

“A doctor said I was mentally ill and advised I needed to see a psychiatrist. But I knew I had a physical condition, I used to scream with the pain.   

“I was prescribed epilepsy medication even though I don’t have epilepsy, which caused me to develop jaundice and damaged my liver. I am lucky to be alive.   

“My condition meant I missed out on a lot – even small things like walking my children to and from school.

“Because I used a wheelchair to help manage my limb jerks and falls, I became a non-person in the eyes of society. People disregarded me and talked to my husband Nick instead.”  

Christine, who moved to Merseyside from the Black Country in 2019, credits her husband Nick with helping her manage her disability.   

Sadly, Nick was diagnosed with a grade four melanoma in 2001 and died in February 2004 aged just 47.  

Christine was eventually diagnosed with HPX in April 2022, and her condition is now manageable due to ‘miracle’ medication which has stopped her limb jerkiness.  

She said:

“Finally getting a diagnosis was bittersweet.   

“It was such a relief to know what was wrong, but knowing I couldn’t tell Nick because he didn’t live to see it was heartbreaking.   

“My doctor said I was the first person they’d ever met with HPX which just shows how rare and difficult to diagnose this disease is.   

“Since my HPX diagnosis, my whole life makes sense.”   

Due to never having a diagnosis, Christine was unable to apply for welfare benefits.  

She first came to The Brain Charity in 2022 for help applying for Personal Independence Payment (PIP).  

While she was initially rejected, our staff helped Christine take the case to a tribunal which was successful, and she was awarded PIP in 2023. 

She was able to use the money awarded to go on her first holiday in 19 years, a trip to Berwick-upon-Tweed.   

Christine now regularly attends the charity’s programme of activities and events.   

She added:

“Coming to The Brain Charity, it was overwhelming to be with so many disabled people, but it was also so freeing because I could just be myself.  

“It didn’t matter that I walked funny, it didn’t matter that my words got jumbled or that my hands wouldn’t stop moving. I could just be me.”