Heartbreaking Alzheimer’s diagnosis for little girls aged just six and 10

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Heartbreaking Alzheimer’s diagnosis for little girls aged just six and 10

Emily and Sarah Bushaway are the youngest siblings ever to be diagnosed with Niemann-Pick disease, which affects just 700 people across the world

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Mark and Lisa Bushaway have told of the heartbreak of watching their two healthy daughters deteriorate into physical and mental wrecks after being struck down with childhood dementia.

The couple, both 48, took Emily for tests after she began repeating herself and struggled to remember friends’ names.

The schoolgirl was just six when she was diagnosed with Niemann-Pick disease type C (NP-C) – a rare disorder affecting only around 700 people across the world.

Seven years later the family suffered a second devastating blow when Emily’s younger sister Sarah showed symptoms of the same genetic condition.

The girls are two of the youngest siblings ever to be diagnosed with the disease, which causes dementia as well as other devastating symptoms.

Sarah with her parents Mark and Lisa, who are her full-time carers (Image: PA Real Life/Dominic Lipinski)

Emily and Sarah were just 10 and six when they were diagnosed with the devastating condition (Image: PA Real Life)
Mark and Lisa became full-time carers for their daughters as they regressed, and they have lost the ability to walk, talk and write.

Lisa 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 Bushaways are speaking out about the rare condition in a bid to raise awareness, following the tragic death of Emily aged just 21.

Emily as a baby before she developed the devastating disease (Image: PA Real Life)
Emily’s sister Sarah, now 19, has a decreased life expectancy.

The disease has devastated Lucy’s family so much that even her belief in God has been shattered.

She added: “I used to have a faith, but having two children with this disease has stopped that.

“With one, you think you can manage, and they’ve been sent by God for you to look after, but two? That’s simply too cruel.”

Emily when she was aged 11, shortly after she was diagnosed (Image: PA Real Life)
Emily was attending primary school when she started suffering from loss of balance, muscle stiffness, difficulty speaking, confusion and memory loss.

Lisa, then working as a children’s nanny, said her behaviour also changed – prompting teachers to send her home from school.

She said: “Emily became very hyperactive and clumsy at school.

“She was always the child who would fall over when she was with her friends and would come away looking traumatised, as if a normal school day had unsettled her.

Mark and Lisa, pictured with youngest daughter, Sarah, want to do all they can to raise awareness (Image: PA Real Life/Dominic Lipinski)
“She’d say things like, ‘I’m going to a party,’ over and over again,” said Lisa. “And I’d have to tell her something three times, before it sank in.

“Mark and I felt like she was regressing. She’d come out of school covered in food, unable to feed herself properly. It just wasn’t right.”

The worried couple sought medical help and were initially advised their daughter had ADHD, which affects concentration.

But a neurologist at London’s Great Ormond Street Hospital carried out tests and Emily was diagnosed with NP-C in Spring 2001.

Emily was diagnosed after she struggled to remember her friends’ names (Image: PA Real Life)
Already parents to Harry, then nine, and Sarah, then three, the Bushaways’ family life was blown apart.

Mark and Lisa both carry the gene for the rare neurodegenerative disease, giving their children a one in four chance of developing the condition.

Lisa added: “We had no idea we were carriers. Now we were told Emily would be lucky if she lived beyond her teens.

“It was absolutely devastating to hear that our child would keep regressing to a point that we would lose her so young.

Emily tragically died while having respite care in a hospice last year (Image: PA)
“We cried and cried for Emily, for all the things she would be robbed of – boyfriends, a husband, children of her own. The list was endless.

“It was very tough. Our life changed beyond recognition.

“We had to move house three times to cater for her needs, whilst trying to give our other kids the best childhood we could.”

Warehouse worker Mark and Lisa became full-time carers to Emily when she stopped being able to talk or walk.

Emily with her grandad David (Image: PA Real Life)
And although their son Harry had normal development for a child of his age, as Sarah grew up she started showing hauntingly similar symptoms to those of her elder sister.

Teachers thought the schoolgirl could be dyslexic, but her parents, fearing history was repeating itself arranged for NP-C tests.

Lisa has vivid memories of Sarah, aged 10, disappearing from the family home with their dog Bow, only to be found by Mark confused and standing by the side of a main road.

Lisa said: “Like Emily, she needed a lot of support at school – she struggled in class. Mark turned to me and said, ‘We need to know.’

The girls lost the ability to walk and talk (Image: PA Real Life)
“Deep down, I think we knew she had it. I think that’s why, when Sarah was finally diagnosed at Great Ormond Street Hospital in 2008, I didn’t react.”

Like her sister, Sarah’s condition soon deteriorated, leaving her confused and with increasingly erratic behaviour.

As Sarah deteriorated, during one family trip to Southend when she was aged 11, she disappeared and was found on a rollercoaster alone.

She would also shout inappropriate comments at strangers, once yelling: “You’ve got a big leg,” at a man with arthritis.

Harry with his sister Sarah (Image: PA Real Life/Dominic Lipinski)
Mark and Lisa were even forced to build a 5ft fence around the house to stop Sarah from escaping as her behaviour became increasingly unpredictable as the disease progressed, and put a baby gate at the top of the stairs to stop her falling down them.

By the age of 17, when other teenagers were dating and applying to university, Sarah could no longer walk or talk and communicated through her iPad.

Last month she even lost the ability to write her own name.

The couple leave notes around the house with prompts which say: “My name is Sarah,” and “I like pop music,” because she cannot communicate.

Emily lost her ability to walk and talk (Image: PA Real Life/Dominic Lipinski)
Both girls also suffered from severe seizures – meaning they needed round-the-clock care from their parents.

Mark and Lisa were so devoted they provided one-to-one 24 hours care for them unaided, until 2013 when they finally accepted the help of carers.

Tragically, Emily died at the end of a five-day respite stay at Helen and Douglas House hospice in Oxford.

Lisa and Mark had spent the days re-decorating the girl’s bedrooms in their favourite colours ready for their homecoming, ringing them every day, but tragically Emily died during her stay away from home.

Sarah with her mum and dad and brother, Harry (Image: PA Real Life/Dominic Lipinski)
An inquest into Emily’s death last month heard how she was unable to breathe after a nurse mistakenly binned a vital part of her breathing tube.

Nurse Katie Philips gave evidence that she unintentionally removed a ‘whisper’ valve, which cleared Emily’s build-up of carbon dioxide.

She was found unconscious by her dad Mark and pronounced dead in hospital a short time later.

Recording a narrative verdict, Oxfordshire coroner Darren Salter said Emily’s “accidental death was contributed to by neglect”.

Now, the Bushaways, of Letchworth Garden City, Hertfordshire, are considering taking legal action against the hospice for alleged negligence with the help of their solicitors at Slater and Gordon.

Emily has a reduced life expectancy (Image: PA Real Life/Dominic Lipinski)
A spokesman for the hospice said: “We acknowledge fully and respect the findings of the Coroner’s ruling.

“We have taken action to ensure that this type of incident won’t happen again.”

The Crown Prosecution Service ruled out any criminal proceedings and Thames Valley Police confirmed there have been no arrests over Emily’s death.

The CQC are currently reviewing evidence from Emily’s case.
Lisa said: “No one should have to bury their child. When Emily died, a part of me died with her. We are so devastated by her loss and miss her every day.

“Luckily having Sarah gets me up every day. We don’t know what the future holds for her, but we know that our time with her is special.

“Now we want to continue Emily’s legacy, by making more people aware of the disease.”

What is the disease?

Niemann-Pick Type C (NP-C) is a rare inherited neurodegenerative disease with no known cure.
It affects infants, children and adults and is caused by an accumulation of lipids (fats) in the brain, liver and spleen.
NP-C is thought to affect around 700 people worldwide.
Symptoms vary but can include deterioration of memory and balance, lung and liver failure, tremors, delayed motor development, learning difficulties, dementia, swallowing problems and seizures.
The age of onset and rate of disease progression can vary greatly. Some children are diagnosed in early childhood if they develop neurological symptoms early, whereas others may remain symptom-free for a number of years and may not be diagnosed until adulthood.
Generally, the earlier the onset of the disease, the shorter the life expectancy of the child.
The disease is inherited when two copies of a mutated gene are passed on to a child. In every pregnancy of a couple who each carry a copy of the faulty Niemann-Pick gene, there is a 1 in 4 chance (25%) that their child will have Niemann-Pick disease.
NP-C is divided into two subtypes, NP-C1 and NP-C2, as each is caused by a different gene mutation.
Approximately 95 per cent of NP-C cases are caused by genetic mutations in the NP-C1 gene, with the other five per cent caused by mutations in the NP-C2 gene.
Although there is no known cure, there are a number of clinical trials currently taking place investigating new therapeutic options for patients with NP-C.