Cruel blow for family as second daughter diagnosed with rare Batten disease
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The Rich family were on their way to the airport, about to take their three young children on the trip of a lifetime to Lapland.
But on the way to catch their flight to meet Father Christmas, Carlisle-born Gail Rich and her husband Matthew were dealt a cruel blow.
They were called by a doctor to tell them that their youngest daughter, Jessica, had been diagnosed with Batten disease, a rare degenerative brain condition.
The news came as a hammer-blow to the family considering they had just come to terms with the same diagnosis for their other daughter Nicole, four, in September.
Over time, children with Batten’s suffer mental impairment, seizures and progressive loss of sight, speech and motor skills.
Eventually, sufferers of the terminal disease will become blind and the type which Nicole and Jessica suffer from will likely prevent them from reaching their late teens.
Gail, 39, who grew up in Carlisle’s Newtown Road, told the News & Star: “It’s really rare, I don’t think there’s even 200 people in the UK with it.”
She says that at the moment the “worst case scenario” is that Nicole and Jessica will not even see their teenage years.
“Some people have likened it to having Alzheimer’s, dementia and Parkinson’s all in one child. That’s pretty much how the child suffers,” Gail added.
“It’s so unheard of but it is horrendous because it strips them of all of their skills. But we are trying to remain positive.
“It was the first time we’d come across it at all – we didn’t know what it was. It was totally out of the blue.
“What we noticed was Nicole stumbling a lot and it carried on, so we thought something wasn’t right. It got so bad when she fell she couldn’t pick herself back up.
“The doctors said they wouldn’t normally have done the tests she had, it wasn’t something they’d ordinarily do because it’s so rare. But because we were so insistent that she was having mobility problems they did it.”
Gail continued: “Your world just stops. When they told us what was wrong it was like they were talking to someone else.
“We were just getting our heads around it, saying we will be fine, but then they told us what it was and they said it’s very, very serious.
“It was when we asked the life-expectancy question we just felt as though they must have got it wrong... we asked ‘are you sure?’.
“But they said it was conclusive, they knew 100 per cent. There’s no words to describe it.
“We are just a simple little family and you’re dropped with this. It’s utterly life- changing in a second.”
Nicole is one of just five youngsters from the UK who have been selected to undergo specialist enzyme replacement therapy at Great Ormond Street Hospital in London.
She’ll have her first infusion this week and after that it will mean fortnightly trips to the capital for the foreseeable future to continue her treatment.
“There was a trial a few years ago which proved to be positive and the therapy slows down the symptoms,” Gail continued.
The company funding the treatment is US-based BioMarin, which extended its programme so treatment could be accessed for free.
“They have been really good and gave out more spaces for treatment after their trial had finished. The next stage for us is to try and get Jessica on it.
“In the meantime some amazing scientists are looking for a cure. We hope that in the time it is slowing down they will find something.”
When Nicole was diagnosed with the condition in September, kind-hearted people pledged money in their droves to help the family with the huge costs associated with battling the disease.
Around £30,000 was raised in just three months, with the money being used to adapt the family home for her condition, buy necessary equipment and take Nicole on some trips of a lifetime while she was still able to enjoy it.
Gail and Matthew, 29, have received huge support from people in Cumbria and the north east, where they now live.
Gail left Carlisle in 1999 to move to Newcastle for work but her mum Kathleen Baxter, who worked at McVities, still remains in Newtown Road. Her dad Michael Baxter, who worked for Metal Box, lives in Dalston.
“What has helped us though is all the support we’ve had. You don’t feel like you’re on your own,” Gail added.
“We were really confident that Jessica didn’t have it. Nicole was a late developer but Jessica was chatting away as normal.”
But after she started to show some of the symptoms Gail and Matthew, who also have a six-year-old son, Louis, decided to get her tested.
“We were in the car on the way to the airport as we were taking Nicole to Lapland before Christmas and the doctor rang. It was such a shock because we thought she was going to be okay. But we literally had to stop the car and get out. It has been horrendous.”
But the New Year brings fresh hope and vigour for Gail and her family. Their fundraising efforts are not stopping there as the couple are launching a charity – the Nicole Rich Foundation.
Money raised through the charity will be split between the ongoing medical costs for Nicole and Jessica and research into finding a cure for Batten disease.
One of the other things they are supporting is a bid by the Batten Disease Family Association (BDFA) to make it mandatory to screen newborn babies as they believe it is the best way to diagnose the disease early.
What is Batten disease?
According to the BDFA, Neuronal Ceroid Lipofuscinoses (NCLs) are several different genetic life-limiting neurodegenerative diseases that share similar features and are commonly referred to as Batten disease. It was initially recognised in 1903 by Dr Frederik Batten but it wasn’t until 1995 that the first genes causing Batten disease were identified. Since then more than 400 mutations in 13 different genes have been described that cause the various forms of Batten disease. It is estimated that about 11 to 17 children, young people and adults are diagnosed with a form of the disease each year, meaning there are between 100–150 affected individuals currently living with the disease in the UK.
Gail continued: “We want to keep a positive family home. We need to make sure we’re happy and loving, not to break down in front of the children.
“Our lives will never be the same but we have to keep it together for our three children.
“We have to live in the right now and live day-by-day.”
People wanting to offer their support to the cause can find out information on their Facebook page “Nicole’s Batten Journey”.