A six-year-old girl is fighting to save her little sister from the effects of their cruel genetic disorder that causes dementia.
Nicole Rich and her sister Jessica, three, both have Batten disease which is a genetic condition with no known cure or treatment available on the NHS.
When Nicola was diagnosed two years ago it was too late for medics to halt the most devastating symptoms of the disease.
The young girl is no longer able to eat by herself, walk on her own and has never had the ability to speak due to the debilitating condition.
Nicole Rich (right) and her sister Jessica (left), three, both have Batten disease which is a genetic condition with no known cure or treatment available on the NHS
Jessica (right) is fighting to save her little sister from the effects of their cruel genetic disorder that causes dementia
However Jessica, who was just one when her sister was diagnosed, has never shown as outward signs of the disease.
Her sister’s diagnosis led to doctors also testing Jessica for Batten disease, enabling them to catch it before it robbed her of her abilities.
Nicole’s treatment meant that her younger sister was given a spot on the revolutionary siblings drug treatment trial.
Jessica dotes on her older sister, holding her hand, stroking her face and bringing her toys, according to her proud parents
Their mother Gail (right) said the young girl is no longer able to eat by herself, walk on her own and has never had the ability to speak due to the debilitating condition
When Nicola was diagnosed two years ago it was too late for medics to halt the most devastating symptoms of the disease
Jessica dotes on her older sister, holding her hand, stroking her face and bringing her toys, according to her proud parents.
However it is Nicole’s diagnosis and battle for treatment that has given her sister the best chance at fighting the condition.
Gail, 41, is campaigning alongside the Batten Disease Family Association for the drug to be made available in the UK
The pair receive treatment twice a month at Great Ormond Street Hospital (GOSH) which involve injections into their brain, as they sit side-by-side holding hands.
Their mother Gail, 41, is campaigning alongside the Batten Disease Family Association for the drug to be made available in the UK.
Mother-of-three Gail from Newcastle said: ‘Nicole saved Jessica – it’s what we have been told many, many times.
‘If it wasn’t for Nicole, nobody would have known about Jessica until it might have been too late.
‘We always thought Jessica was going to be doing stuff for Nicole – and she does.
‘But if it wasn’t for Nicole, it would be now – all these years down the line – that Jessica would be starting to shows symptoms.
‘They have this incredible bond. Only they know what each other is gong through, really.
The pair receive treatment twice a month at Great Ormond Street Hospital (GOSH) which involve injections into their brain
‘Jessica’s life has been saved by that unique bond and it’s powerful and it gives me hope too.
‘In her own way, Nicole diagnosed Jessica and gave her some chances she doesn’t have.
‘She can’t walk on her own or talk, but she changes peoples’ lives. She brings out the best in people and Jessica is like a mother hen to her big sister.
‘If she coughs, she’ll run tap her back. She holds her hand when they are together and leads her around. She’ll go slow to help her and cuddles her and pats her face.
‘She’s just so lovely. Of course she doesn’t fully understand – but she knows they have a bond and that gives us hope.
With hindsight, Nicole’s first symptom was she didn’t speak – and aged two her parents tried Makaton and pictures cards to help her.
‘We thought that was just her character,’ said Gail, who has a son Louis, eight.
‘She was always running off and didn’t want to sit still.’
Aged three, they saw a paediatrician, thinking she had problems with her vocal cords, but he diagnosed her with Global Development Delay.
Jessica, who was just one when her sister was diagnosed, has never shown as outward signs of the disease (pictured with their son Louis, eight)
‘We were soon made aware that speaking was the least of our concerns and there was an underlying issue to the lack of speech and behavioural characteristics Nicole was displaying,’ said Gail.
A few days later she had a seizure, turning blue and then became lifeless when she was sat on the sofa with her family.
Nicole’s treatment meant that her younger sister was given a spot on the revolutionary siblings drug treatment trial
She was rushed to hospital and diagnosed with focal epilepsy – but her parents promised to stay positive.
‘Our main thought was ‘don’t worry, we’ll do it, we’ll face it.”
She moved to a school with an additional resource centre, but soon teaching staff spotted she was clumsy, falling over when she was playing or running.
Following blood tests, doctors called her parents in for a meeting in September 2016 and revealed she had Batten Disease – and there was no cure.
‘Your heart just sinks, said Gail.
‘We found out there was no treatment, no cure, nothing.
‘Our world collapsed in those few seconds and we cried and cried and cried.’
At the time Jessica was nearly one – and the family then faced the agonising wait to find out she too had the disease, in December 2016.
Their treatment slows down the progression of the disease, but it is not a cure
‘When we first found out about Nicole, we said that maybe God gave Jessica to us a gift, she was meant to keep us strong,’ said Gail.
‘We were so sure Jessica would be okay and we remember even thinking that whatever Jessica does in her life, she won’t be doing it just for herself, she will be doing it for her sister too.
‘After hearing about Jessica, we could have crumbled but that was not an option – our children needed us.’
The girls have has enzyme replacement therapy given directly into the brain by a device which sits inside the skull.
There was already a treatment trial running in the UK but the spots were already taken.
With the help of the Batten Disease Family Association Nicole’s family fought for an extra spot and she started treatment at GOSH in January 2017.
She has enzyme replacement therapy given directly into the brain by a device which sits inside the skull.
There was a separate sibling trial in Hamburg, but Jessica was too young to join it, but her family wrote to the pharmaceutical company, starting months of email and phone correspondence.
They begged and begged and in May 2017 Jessica became the youngest child in the world to ever have this treatment.
The girls travelled separately – with a parent each – to London and Germany every two weeks for ten months until they were both given a spot at GOSH in March this year.
The treatment slows down the progression of the disease, but it is not a cure.
Before being given a spot at GOSH the girls travelled separately – with a parent each – to London and Germany every two weeks for ten months
‘Because of Nicole, because of the journey she went through, with Jessica we had the time to get in there before the problem started,’ said Gail.
‘Jessica is showing now no symptoms at all.
‘Everyone is looking at her and asking ‘can she beat this?’ She’s running, jumping, speaking and laughing.
‘It’s horrible in a way to have, in our own family, the comparison that proves that this treatment works. We can see it right in front of us.
‘But it gives us hope for the future. There is hope.
‘We know Nicole will never be able to walk by herself again, but we don’t sit and cry about what she can’t do every day.
‘We have three beautiful children who are here with us now. It’s time to make memories – and we have lots more to make.’