Daily Mirror (Northern Ireland)
Gene disorder with no cure
MARK and Lisa Bushaway have spoken of the heartbreak at watching their two healthy daughters deteriorate into physical and mental wrecks after being struck down with childhood dementia.
The couple, both 48, said older girl Emily was diagnosed with crippling Niemann-pick type C when she was just six and her sister Sarah at 10, seven years later. They are the youngest siblings ever to have the disease.
Both suffered memory loss, severe confusion and seizures before the condition became so bad they were left unable to walk or talk.
Tragically, Emily died at the age of 21 after a blunder at a hospice with her breathing tube. And Sarah, now 19, is also expected to die young because of the rare genetic disorder that affects only around 700 people worldwide. Former NIEMANN-PICK Type C is a rare inherited neurodegenerative disease with no known cure.
It is caused by an accumulation of lipids (fats) in the brain, liver and spleen.
Symptoms can include loss of memory and balance, lung and liver failure, tremors, delayed motor development, learning difficulties, dementia, swallowing problems and seizures.
Some victims are diagnosed in early childhood, whereas others may remain symptom-free until adulthood.
The earlier the onset of the disease, the shorter the life expectancy of the child.
Children inherit the disease when two copies of a mutated gene are passed on from both parents.
nanny Lisa, who with Mark became a full-time carer for their daughters, said: “It’s such a cruel disease, one of the worst illnesses I have ever heard of. It’s robbed us of so much.
“If anyone developed dementia, we expected it to be me and Mark, when we reached old age.
“We never expected our young girls to need constant care.”
The couple have decided to speak out in a bid to raise awareness about NP-C.
Lisa told how Emily was at primary school when she started suffering loss of balance, muscle stiffness, difficulty speaking, confusion and memory loss. The youngster’s behaviour also changed, which led to her being sent home by teachers.
Lisa added: “Emily became very hyperactive and clumsy at school.
“She would fall over when with her friends and would come away looking traumatised, as if a normal school day had unsettled her.
“She’d say things like, ‘I’m going to a party,’ over