Mum reveals heartbreak after daughter, seven, saves her little sister with terminal diagnosis

Mum reveals heartbreak after daughter, seven, saves her little sister with terminal diagnosis

A SEVEN-YEAR-OLD girl saved her little sister after being diagnosed with a rare genetic disease first, her heartbroken mum has said.
Nicole and her three-year-old sister Jessica were both diagnosed with the rare Batten disease that means they could be left blind, immobile and dementia-stricken by the time they are teenagers.
SWNS:South West News Service Jessica, three, and Nicole, seven, face an agonising death if their drugs are stopped
But due to the extreme rarity of the disease, it took doctors months to realise what was wrong with Nicole, meaning she only started to receive treatment when she was five.
So when little Jessica started to display the same symptoms as a baby – parents Gail and Matthew Rich knew exactly what to test for first.
Speaking to the Sun Online, mum Gail revealed her heartache that her eldest daughter had given little Jessica a chance to receive treatment to slow the terminal disease’s progression down first.
She said: “To think that her sister hasn’t got that chance and won’t have the same chance as her younger sister – it’s really, really hard.
“If it hadn’t of been for Nicole, we would never have known about Jessica until it was too late and she had begun to lose abilities.
“Instead she is gaining abilities and skills as a three-year-old would.”
Nicole cannot speak, struggles to walk and is slowly losing her sight after she started receiving treatment two months before her fifth birthday.
Meanwhile, Jessica is a “walking miracle” after the disease was diagnosed when she was just 15-months-old.
Mum Gail, 41, said: “Jessica has just started mainstream nursery and is showing no signs whatsoever of the disease.
“She’s developing amazingly well, and doing things that Nicole has never been able to do.
“Nicole is an absolute sweetheart, nothing fazes her.
“It’s just heartbreaking to see the living proof of treatment when you compare the girls.”FIGHT FOR LIFE
The disease, which is estimated to effect just 30 children in the UK according to BDFA, means the Nicole suffers from epileptic fits and speech problems.
The incurable condition often means sufferers slowly lose their sights and motorskills, with doctors predicting little Nicole may heartbreakingly not make it past her teens.
And parents Gail and Matthew are now fighting to get the treatment to be available on the NHS.
Jessica is currently being given the enzyme infusion therapy as part of a trial which will run until the end of 2020.
However, Nicole is on a “compassionate use” trial. Both girls’ treatments are funded by American pharmaceutical BioMarin.
The family has even met with Matt Hancock, the Secretary of State for Health and Social Care, this week to push for NHS funding for the treatment.
Gail added: “There are children waiting to get access to the treatment, so they are desperate to get this resolved.
“Everyday that goes by is a day watching their child deteriorate, knowing a treatment exists and used around the world in over 20 other countries, but you are being denied access.”
What is Batten disease?Batten disease, otherwise known as Neuronal Ceroid Lipofuscinoses, is a fatal disorder that affects the nervous system.
The condition, which typically begins in childhood, can manifest itself in vision problems and seizures.
It can then worsen, with children suffering from cognitive impairment, worsening seizures, and progressive loss of sight and motor skills.
It is often fatal by late teens or early 20s.
According to BDFA UK, an estimated 1 – 3 children are diagnosed with an infantile form of the disease each year, meaning there are probably between 15 and 30 affected children in the UK.
There are other variations of the genetic disease, with 14 strains so far diagnosed.
There is currently no cure

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Samantha Barber, CEO of the Batten Disease Family Association, said: “It is not acceptable the only drug available for this awful disease can be turned down like this.
“The BDFA calls for all parties to re-open negotiations with a clear focus on achieving a solution for our children.”
The family has since launched The Nicole and Jessica Rich Foundation.
supplied Little Nicole cannot speak due to her Batten’s disease diagnosis
supplied Three-year-old Jessica has barely no symptoms
supplied Gail and Matthew Rich smile with their daughter Nicole
supplied The family met with Matt Hancock to ask for support over treatment for the rare disease
supplied The Rich family have been working to support both little girls after the devastating diagnosis

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