Kaycee Bradshaw stopped being able to walk and went back to diapers within 12 months after a devastating diagnosis after her observant mum spotted her twinkling eyes
Image: Claire Riley)
A baby girl has been diagnosed with an incurable disease so rare even a nurse had never heard of it after her doting mother saw her daughter’s eyes twinkle.
Claire Bradshaw was the first to spot the unusual symptom in nine-year-old Kaycee, after initially fearing her daughter was deaf because she couldn’t speak properly when she was four.
Claire, 49, told the Liverpool Echo her daughter would have seizures and break her teeth and bones falling to the ground without the mobility to stop.
That’s when Kaycee received a diagnosis that no one expected.
Devastatingly, doctors discovered that Kaycee had a genetic condition called Batten disease.
This causes the little girl to experience epileptic seizures, loss of speech and mobility, muscle spasms, progressive blindness and dementia.
Claire said that before the diagnosis in 2016 she had never heard of Batten disease – and she was not alone.
She said: “When we first got the diagnosis we obviously didn’t know much about it, but neither did the nurse we saw.
“The first concerns came when Kaycee wasn’t speaking properly, she wasn’t getting her words, so we started thinking ‘is she deaf?’, ‘is she that?’.
“Then she started having eyelid twinkles. I took her to the doctor and she was diagnosed with epilepsy and put some pills on, so we thought we’d live with it and eventually it would work out, but then it kept going down.
“She started to adapt and she ended up with broken teeth and broken bones because when she fell to the ground she didn’t stop like any other child – her mobility was gone.
“She had gone from walking and not having diapers, to suddenly not walking – only with our help – and back in diapers 12 months later.”
The mother-of-six said she was initially told her daughter could only expect to live to be eight or 10 years old. However, more recently, Claire was told to “start looking for a caregiver” as Kaycee will “most likely outlive her”.
While figures on the number of people in the UK with Batten disease vary, the BDFA (The Batten Disease Family Association) estimate that around 11 to 17 children, young people and adults are diagnosed with some form of the disease. incurable every year.
In an effort to combat the disease, in 2017 St Helens-born Kaycee was one of the first children to receive enzyme treatment on her brain at Great Ormond Street Hospital in London, which she continued to do every two weeks since its first treatment.
Claire says that since her daughter started receiving the treatment five and a half years ago, the results have been “absolutely brilliant”.
Claire told ECHO: “In the world of Batten disease, Kaycee shouldn’t be here right now, but she is. She’s still here, that’s how good it is.
“Kaycee was one of the first children in the UK to receive the treatment we had to fight for. We campaigned so much, we really fought for it and we won in the end, which means that now all children diagnosed with this disease will be able to get treatment immediately.
“It’s not going to save her life, she’s still terminal, but it’s going to happen at a much slower rate. We’re extending her life without extending her painful moments – just her happy moments, her laughter and her smiles. We’ve got a few good years left, and she’s a soldier.”
With the treatment a success over the past five years, Kaycee has now been selected as one of eight children who will take part in a new trial that aims to save the sight in one of her eyes.
The trial was only made possible after an extensive fundraising campaign by families of children affected by the disease and the Batten Disease Family Association (BDFA). In total they have raised over £200,000, in the hope the trial can change the lives of others.
The 18-month treatment trial, which is already a success in animal studies, involves injecting a drug called Brineura, which is already used to slow the disease, directly into the eye.
Doctors at Great Ormond Street Hospital believe the drug may save the sight of children with CLN2 type Batten disease.
Claire said if it could save just one of her daughter’s eyes, it would “make such a big difference to her quality of life”.
She said the trial, which began in August, gave them “hope” for Kaycee and other children with Batten disease.
Claire said: “Kaycee was the third in the world to start this treatment and hopefully this will mean she can keep sight in her right eye.
“Her sight is her life. All her smiles and her life come from sight, she can watch the grandchildren grow up and see the birds.
“Take that away, there’s nothing left.
“In 18 months his left eye will be gone, but his left will be too if we don’t try this – it’s just a waiting game now.”
The drug injected aims to restore enzymes in the nervous system that are not working or recycling waste products properly.
The breakthrough treatment works by restoring a “missing” enzyme that the nerves at the back of the eyes need to function.
At the end of the trial which will see Kaycee, along with four boys and three other girls, receive nine doses of the drug once every eight weeks, medical professionals will compare the difference in vision between the children’s eyes to see if the treatment has proven itself. effective.