When Fiona Willis’s grandfather died in a mental institution at the age of 54, just a year after developing an illness that left him unable to speak or move, it was assumed his job was to blame.
But, after her mother began developing similar symptoms, new tests found it was in fact a rare condition that can be passed on genetically. She told reporter Cara Simmonds what it’s like living with leukoencephalopathy in the family...
It all started in June 1982, when Peter Beale, from Newington, was struck down by an unknown disease.
In less than 12 months, he was paralysed, unable to feed himself or communicate with his loved ones, before he suddenly passed away.
“It was a very quick progression, he had a lot of seizures,” his granddaughter, Fiona, from Sittingbourne, recalled.
“I just remember hearing stories growing up about how my grandma was convinced that his job was responsible for his illness.
“My whole family believed that very strongly.
“He worked in a factory packing room, filling containers with pesticides. We assumed that’s what did it.”
Three decades later, however, her mum Bronwen, 57, started showing similar symptoms.
Fiona says she was just finishing university when she noticed odd changes in her behaviour.
“They weren’t too concerning, but now looking back I think it was the beginning,” the 35-year-old explained.
“She started to look quite bored when people were talking to her – displaying how she felt about a conversation on her face.
“I remember one Christmas she was being really open about the fact that she didn’t like the presents that she was given.”
Leukodystrophies are genetic disorders that affect the brain or spinal cord.
The majority are degenerative – with symptoms such as impaired mobility, vision, speech and hearing, as well as incontinence, inability to swallow and loss of cognitive skills.
There are more than 100 known types of leukodystrophy, including some so rare they only affect one or two individuals.
In some cases, they may be life-limiting.
Fiona’s mum has been diagnosed with Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia (ALSP).
According to the National Organization for Rare Disorders, the estimated number of people with ALSP in the United States is 10,000 – with similar estimates in Europe and Japan.
Bronwen lost her job at a local animal sanctuary when her condition started to worsen.
Fiona said: “She made some silly mistakes – I think she once forgot to give a cat some medicine.
“She also gave up taking in wildlife. Mum used to rehabilitate and re-release them. That was strange.
“After that she started having delusions.
“She had forgotten how to spell, was reading really slowly and struggled to find the right words when talking to us.
“She started picking at her skin and had scabs all over herself.
“Also, she would take her tea a completely different way now – she’d always have it really weak and milky.
“It changed to her not really caring and having it quite strong. That was totally against what she’d always done.
“It sounds like a small thing, but when you know somebody, you know it’s not right.”
Despite feeling like it was something more, the doctors kept telling the family it was just anxiety.
Fiona believed it might have been early onset dementia, but due to her mum only being in her late 40s, it was extremely unlikely.
During 2020, she started to become increasingly concerned.
“In the early days, there was a part of me that didn’t want to believe it was something more sinister,” Fiona said.
‘...there was a part of me that didn’t want to believe it was something more sinister.’
“As she got worse, I started to get more and more frustrated. It got to a point when it was becoming dangerous.
“It wasn’t until I was talking to my aunt, saying how worried I was and describing my mum's symptoms, when she said ‘that sounds like dad’.
“That was the light-bulb moment – it could be something genetic within the family.”
Fiona managed to get an MRI for her mum in September and was told there was extensive damage in her brain.
However, nobody could tell her what was causing it, only speculating that it could be vascular dementia.
Five months later, Bronwen was referred to the National Hospital for Neurology and Neurosurgery in London.
After a series of tests and numerous trips to the capital, Fiona’s mum finally received the diagnosis of ALSP.
It was also confirmed that other members of her family were at risk of inheriting the disease.
Fiona, along with her aunt, Tamsin Kimber, are now going through the process of genetic testing.
It involves three sessions of counselling and a simple blood test which will help determine if the disease will be passed onto their children.
Fiona, who can choose when she wants to learn the results of the testing, if at all, said: “The night before I was beside myself with worry which is strange because the whole time my decision hasn’t wavered - I don’t like unknowns.
“I questioned if I was doing the right thing.”
She says it took a "long time to get used to the idea" and went into what she called "a pit".
She said: "For a long time I was grieving for the life I would have had."
Now Fiona has given up her job as an NHS administrator and now works as a fundraising assistant for the charity which supported them over the last few years.
She says seeing the research being carried out has made her feel much less bleak about the future.
It allows her to look after her mum and help the cause.
Bronwen is now going through a clinical trial, which involves travelling to London every six months for pioneering new treatment.
‘I’ve had periods where I’ve felt incredibly low and that there’s nobody you can talk to.’
She now can't drive or cook, or get in or out of the bath on her own.
Fiona has become her full-time carer essentially, also looking after her finances.
Alex TLC (The Leukodystrophy Charity), is the only organisation in the UK that supports people affected by the disorder, as well as their families and carers.
“I’ve had periods where I’ve felt incredibly low and that there’s nobody you can talk to,” Fiona explained.
“Working with the charity and seeing the community of people with leukodystrophy has really helped.
“You feel like you belong and you aren’t powerless. You learn to appreciate the small things.”
To find out more about the disease, click here.
The Leukodystrophy Charity is lighting up Rochester Cathedral blue for awareness on Wednesday, September 13.