Rare illness: Sisters are doing it for each other

DEVOTED SISTER: Jessica is like a little mother to Nicole (Image: Katielee Arrowsmith/ SWNS)

LIKE many sisters, Nicole and Jessica Rich are inseparable but there is a unique bond that unites these extraordinary siblings. Both girls suffer from a debilitating genetic disorder but whereas Nicole has already developed many of the symptoms linked to the illness, Jessica has been spared, thanks to her sister. Two years ago when six-year-old Nicole was diagnosed with Batten disease, which has no known cure and no treatment available on the NHS, doctors were unable to halt the most devastating symptoms.

But while she can no longer eat by herself, walk on her own, and has never spoken, her bubbly little sister shows no outward signs of the disease.

This is because when Nicole was diagnosed, Jessica was only one and their parents, Gail and Matthew, immediately requested the same tests be done on her.

Doctors were able to catch the disease before it could rob Jessica of her abilities and the family fought successfully to get Jessica on a revolutionary siblings drug treatment trial, which seems to be doing the trick.

“Nicole saved Jessica – it’s what we have been told many, many times,” said Gail. “If it wasn’t for Nicole, nobody would have known about Jessica until it might have been too late.

“In her own way, Nicole diagnosed Jessica and gave her some chances she doesn’t have.”

“In her own way, Nicole diagnosed Jessica and gave her some chances she doesn’t have.”

Proud parents Gail and Matthew, of Newcastle upon Tyne, watch with beaming pride when Jessica dotes on her poorly sister, holding her hand, stroking her face and bringing her toys.

“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 show symptoms.”

THE inseparable pair sit side-by-side, hand-inhand, for treatment injected straight on to their brains, during twice-monthly appointments at London’s Great Ormond Street Hospital for Children.

The sisters and their parents in hospital (Image: SWNS)

Gail, 41, campaigns alongside the Batten Disease Family Association for the drug to be made widely available in the UK.

Looking back, Gail and Matthew, who have a son Louis, eight, realise Nicole’s first tell-tale symptom was that she didn’t speak – and aged two her parents tried Makaton, a language programme that uses signs and symbols to help communication, and picture cards.

Gail said: “We thought that was just her character. She was always running off and didn’t want to sit still.”

When Nicole was three, she saw a paediatrician about potential problems with her vocal cords, but he diagnosed her with Global Development Delay.

FAMILY BOND: Gail and Matthew, left, with their children Louis, Jessica and Nicole (Image: Katielee Arrowsmith/ SWN)

Gail said: “We were soon made aware that speaking was the least of our concerns and there was an underlying explanation for the lack of speech and behavioural characteristics Nicole was displaying.”

A few days later Nicole had a seizure. She turned blue and became lifeless when she was sat on the sofa with her family.

Nicole was rushed to hospital and diagnosed with focal epilepsy – but her parents promised to stay positive.

Gail added: “Our main thought was ‘Don’t worry. We’ll do it. We’ll face it’.”

Nicole was moved to a school with an additional resource centre but soon teaching staff spotted she was clumsy and would fall over when playing or running.

After further blood tests, doctors called her parents in for a meeting in September 2016 and, with tears in their eyes, they revealed she had Batten disease – and there was no cure.

“Your heart just sinks,” recalled Gail. “We found out there was no treatment, no cure, nothing. Our world collapsed in those few seconds. We cried and cried and cried.”

At the time Jessica was nearly one and, having put her forward for the same tests, Gail and Matthew then faced an agonising three-month wait to find out if Jessica, too, had the disease.

MOTHER- DAUGHTER: Gail and Nicole (Image: SWNS)

The results came shortly before Christmas, 2016.

“We were so sure Jessica would be OK 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.

“When we first found out about Nicole, we said that maybe God gave Jessica to us as a gift, she was meant to keep us strong,” said Gail.

“After hearing about Jessica, we could have crumbled but that was not an option – our children needed us.”

Although there was already a treatment trial running in the UK, there was no space left. With the help of the Batten Disease Family Association, the Riches battled for an extra spot and Jessica started treatment at Great Ormond Street in January 2017.

Batten disease is caused by abnormal genes that render the body unable to produce the proteins it needs.

The rare disorder eventually causes sufferers to lose their sight and ability to walk and causes dementia. Sufferers are usually not expected to live into their teens.

For the Rich girls, there is a build-up of toxins and waste that affects their brain, and they don’t produce the enzyme to get rid of it.

Jessica has enzyme replacement therapy given directly into the brain by a device that sits inside the skull.

SISTERS LOVE: A kiss for Nicole (Image: SWNS
)

A separate sibling trial in Hamburg wouldn’t accept Jessica initially because she was too young, but, once more, Gail and Matthew went into battle for their daughters, writing for months directly to the pharmaceutical company that manufactures the drug.

They begged and begged and, in May 2017, Jessica became the youngest child in the world ever to receive the treatment.

The sisters travelled separately, with a parent each, to London and Germany every two weeks for 10 months until they were both given a place to continue their treatment at Great Ormond Street in March.

“They have this incredible bond. Only they know what each other is going through, really,” says Gail.

“Jessica’s life has been saved by that unique bond and it’s powerful and it gives me hope too. And Jessica is like a mother hen to her big sister.

“If Nicole coughs, she’ll run and tap her back. She holds Nicole’s 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.”

The treatment slows down the progression of the disease, but it is not a cure.

“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 now showing no symptoms at all.

Nicole developed many symptoms linked to the illness and spared her sister (Image: SWNS )

“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.

“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.”

One such special memory was this summer when Nicole was supported to walk across the finish line at the Great Scottish Run.

Thousands watched and cheered as Nicole, Gail and husband Matthew, 31, a factory worker, crossed the line.

They participate in events like this to raise awareness and funds for research into Batten disease, and to keep up the pressure on the NHS to fund the girls’ lifesaving drugs.

“Nicole can’t walk on her own or talk, but she changes peoples’ lives. She brings out the best in people. So we are the lucky ones. We’re fighting for everyone else,” said Gail.

For more information visit The Nicole Rich Foundation, thenicolerichfoundation.org.uk