Family on dream trip to Lapland with terminally ill toddler discover her sister has same disease on way to airport

A family hoping to celebrate their terminally ill daughter’s Christmas wish in Lapland were dealt another cruel blow – on the way to the airport.

Four-year-old Nicole Rich and her parents were on their way to meet Father Christmas in Finland when they learned her sister has the same cruel disease.

Nicole suffers from Batten’s disease, a neurodegenerative condition that means she might not make it to her teenage years.

She was diagnosed with the rare condition in September after her parents noticed she wasn’t developing at a normal rate.

The illness will rob her of the ability to move, see and function normally before ending her life prematurely. It currently affects just 40 people in the UK.

The girls’ mum Gail told how Nicole created a bucket list of things to do and see while she can still enjoy them, before Batten’s robs her completely of her sight and mobility.

One of the things she wanted to do was meet Father Christmas in Lapland, which the family were able to do thanks to a charity.

Gail, 39, Matthew, 29, Louis, six and Nicole – traveled to Finland leaving their one-year-old with family as they went to meet Santa last weekend.

They took sleigh rides, petted reindeer, went on walks in the snow and sat on Father Christmas’ knee in a dream trip for the youngster.

But on the way to the airport they were dealt the cruelest of blows when their doctor called to say another of their children has the disease.

Jessica, who is only one, also has the killer condition, with blood tests revealing she is a Batten’s carrier.

Mum Gail said that while Jessica is currently asymptomatic, she could quickly become immobile like her older sister.

She said: “We took her for blood tests because Batten’s is inherited so we wanted to be sure she didn’t have it.

“We were so confident she wouldn’t. We just couldn’t imagine that two of our children would have it. So when the doctor called we thought it would just be a quick conversation.

“But then he said Jessica had it and we just couldn’t believe it.

“We had to just get on a plane and go to Lapland. I spent the whole flight crying until Matthew said to me that we had to be strong and make memories for our little girl.

“It was the hardest week of my life. But we had to remember why we were there and we wanted to have a good time with our kids.”

Symptoms of Batten’s usually start between the ages of five and 10 years old – but Nicole’s began at the age of three.

Gail and Matthew have hope that by catching Jessica’s diagnosis early, they can halt the progress of the condition and bide her more time.

Early signs can be personality and behaviour changes, slow learning, clumsiness, or stumbling – but can become progressively worse quickly.

Only three to four children are diagnosed with the condition every year – and there are thought to be only 40 sufferers in the UK.

Nicole is currently on a trial at Great Ormond Street Hospital where she is being treated with enzyme replacement therapy.

She is one of five children in the UK selected to take part in the pioneering trial that could prolong her life, which her family hope could mean she will survive long enough for a cure to be found.

Jessica is too young to start the treatment, which is only available to children over the age of two.

But Gail is hopeful a siblings program will open in the new year which will see Jessica treated alongside her big sister.

She said: “Our hope is to halt the process. We know it’s too late for Nicole but it could help our Jessica.

“It’s the most horrible disease I’ve ever heard of and now we have to deal with it.

“There are drugs but because it’s such a rare disease, they haven’t been licenced in the UK. We hope they will become licenced and available on the NHS.

“Because right now, the enzyme replacement therapy is the only treatment we can give to them.

“Being quiet isn’t going to do anyone any favours, it’s got to be done and in a way we just have to get on with it.

“The whole disease is so unknown, even our GP hadn’t really heard of it.

“It’s just so rare and that’s the problem. It’s harder to get medication for it because there are bigger conditions that get the funding and the drugs. We are just desperate.”

They are hoping that the drug, called cerliponase Alfa (BMN 190) will be licensed and bought by the NHS.

Nicole’s current treatment with Great Ormond Street is designed to restore enzymes.

The therapy will flood Nicole’s brain with these enzymes – which she is lacking because of the condition – in the hope of improving her ability to break down proteins.

This will happen through a device fitted into her skull that releases the enzymes into her brain.

It’s thought that by doing this, it will prevent a build up of toxins which is what blocks the brain’s signals to parts of Nicole’s body.

The surgery won’t improve her eyesight – which will begin to deteriorate – but a second trial is currently in the developing stage that Gail is hopeful will help.

Nicole was diagnosed in September.

Remembering the shock diagnosis, Gail said: “Your world just changes in a second – it just feels like it’s not you. You listen to it and you think that he’s speaking to someone else, and I thought it can’t be because she’s the most beautiful little thing.”

Gail added: “She kept on falling over and she couldn’t balance properly and we thought it was her epilepsy medication, maybe we were giving her too much or too little or it wasn’t the right one.

“I was persistent and kept telling the doctors there was something wrong so they did some tests and I got a phone call quite quickly afterwards.

“The doctor called and asked us to both come to the surgery without our kids and to talk – well, at that point you just get this sinking feeling and you know something is really wrong.

“We thought she might need a wheelchair or she might have MS (Multiple Sclerosis) and I just felt heartbroken.

“When we got there, there was a neurologist and a nurse in with the doctor and we realised it was more than that.”

The family has set up a GoFundMe page to raise cash to pay for the practicalities of Nicole’s treatment.

Funds will also go towards helping Nicole get around with a custom made walker, which cost £1,500 each.

The money will also go towards traveling to London once a fortnight for Nicole’s treatment.

Gail and Matthew also want to raise awareness of the extremely rare disease through their fundraising page.

Kelsea Little, spokesperson for GoFundMe.com said: “We are touched by Nicole’s story and her family’s fierce determination to make her life as full and comfortable as possible.

“We wish the Rich family the very best in making Nicole’s dreams come true.”

You can donate to help Nicole on the family’s GoFundMe page.