Babies battling dementia: Two tiny daughters, one deadly disease
Lisa Bushaway, 49, always assumed dementia was a disease that struck old people, not beautiful, youthful children…
Grass stains, grazed knees and broken toys are what a childhood is made of.
Kids are so busy running around the place that, as a parent, you get used to tears every time they take a tumble.
But with my daughter, Emily, by the time she was six, it was different.
Hyperactive and clumsy, her teachers were finding her unmanageable.
There were other things, too.
‘I’m going to a party. I’m going to a party. I’m going …’ she’d repeat, as if the thought was running through her brain on a loop.
As a nanny and with two kids – Harry, then nine, and Sarah, then three – I knew something wasn’t right.
At first, a doctor suggested it might be ADHD – a condition that affects concentration.
But that didn’t explain Emily’s clumsiness.
‘I have to tell her things three times. She’s forgetting friends’ names,’ I despaired. She was struggling to feed herself, too. The habits of a confused old lady, not a schoolgirl.
She was referred to London’s Great Ormond Street Hospital, where a neurologist put her through test after test.
In the meantime, we did our best to carry on with life.
But, in spring 2001, we were given Emily’s diagnosis – and our world came crashing down.
‘Emily has Niemann-Pick disease type C, NPC for short,’ the doctor explained. A rare progressive, genetic disorder, affecting around 700 people worldwide. If both parents carry the gene, there is a one in four chance of a child developing it.
‘It causes dementia,’ explained the doctor. ‘And Emily is unlikely to live beyond her teens.’
Devastated, we cried for Emily, for her siblings and for ourselves.
We put Emily into specialist education, vowing to care for her without outside help.
But three years later, in 2004, she could no longer talk or walk and had started having severe seizures. Mark, a van driver, had to leave work to help me with the kids full-time.
Having been devastated by the news we were both carriers, we watched for signs of NPC in Harry and Sarah.
Harry was fine but, five years after Emily’s diagnosis, when Sarah was 10, she developed similar symptoms.
‘Sarah’s disappeared with the dog,’ I exclaimed one day to Mark.
He came back with a panicky-looking Sarah and Bow the dog.
‘She was by the main road with Bow, looking confused,’ Mark sighed.
Meanwhile, she needed lots more support with everything she did.
At school, her teachers suggested she was dyslexic.
But, deep down, we knew she had NPC. And, in 2008, Great Ormond Street doctors confirmed it.
Our life had already changed beyond recognition, but now we had two daughters trapped in this horrible disease.
Tragically, like her sister,
Sarah deteriorated quickly.
We took her out of mainstream school and had to build a 5ft fence around our house in Hitchin, Hertfordshire, to stop her from escaping.
On a family trip to Southend, Essex, when she was 11, she disappeared. We finally found her – alone – on a rollercoaster.
There was some hope that year, when Sarah was given Zavesca – a drug to help slow the decline. It was too late for Emily, though, who could no longer swallow.
The drug was effective in slowing the disease down but, inevitably, Sarah began to visibly regress. She started shouting at strangers in the street and having serious seizures.
When she was 12, we had to install a baby gate at the top of the stairs, to stop her from falling down them.
Meanwhile, Emily, who was three years older, was struggling physically.
And, at 16, she had a tracheotomy, creating a hole in her throat for a breathing tube.
We had to accept outside support and be trained in changing the tube.
Poor Harry. Despite our best efforts, the girls and their needs dominated our lives.
We’d started taking occasional respite places for our daughters, to give us all a break and time with Harry.
In May 2016, we had a five-day break – Sarah stayed at a hospice in Cambridgeshire and Emily went to Oxford’s Helen & Douglas House, where she had stayed before.
Our family home felt quiet without the girls.
It was 14 May, a pleasant spring day, when the girls were due to come home. Sarah was being dropped off by the hospice she was at, while Mark and my dad, David, 74, set off to fetch Emily.
But when they arrived, they found our beloved daughter in her room, slumped over.
She didn’t seem to be breathing. Her lips and fingernails were blue.
Paramedics did their best, but it was too late.
Aged just 21, she was pronounced dead at John Radcliffe Hospital in Oxford.
I was hanging the washing out in the garden, when my mum Irene, 70, arrived to tell me.
The look on her face meant she didn’t have to speak.
Words are inadequate to describe our grief.
We gave her a wonderful send off. A white horse and carriage brought her lilac butterfly coffin to the crematorium, and she entered to Robbie Williams’ She’s The One.
We released doves at the end. ‘Be free, my sweetheart,’ I whispered.
When Emily died, a part of me died with her.
She always knew who we were, despite her condition, and we felt her love. We miss her every day. At an inquest into her death at Oxford Coroner’s Court in July 2017, it emerged that she had been left unable to breathe properly, after a small section of her ventilator’s ‘whisper valve’ was mistakenly discarded.
The nurse of 20 years had never changed a whisper valve before. The coroner said Emily’s ‘accidental death was contributed to by neglect’. We plan to take legal action against the hospice, through our solicitors at Slater and Gordon, as we want justice for Emily.
In the meantime, Mark, Harry, now 27, and I are watching Sarah, now 20, deteriorate. I leave notes around the house for her carers saying things like ‘My name’s Sarah’ and ‘I like pop music,’ so that she has a voice.
Sadly, last month, she stopped being able to write her own name.
If anyone was going to develop dementia, we expected it to be me or Mark, in our old age. We never expected it to be our little girls.
‘She always knew who we were, despite her condition, and we felt her love’