Brave Jess will meet with top medics
A brave schoolgirl living with a terrifying brain aneurysm will see top medics in London after being told she is the only known case of an unnamed disease.
Jessica Entwistle, who is a “whirlwind of joy,” will be seen by specialists at Great Ormond Street Hospital.
Medics fear the condition could cause multiple aneurysms with Jessica’s blood vessels becoming entangled, known as AVMs.
The seven-year-old, from Ayr, suffers from debilitating symptoms leaving her too unwell to complete full days at school.
She was told she has a disease caused by a genetic mutation, MAP2K1.
Mum Cheryl says her daughter is a “one of a one” meaning she is the only case ever discovered.
Both Cheryl, 40, and her husband Thomas, 38, say they were devastated when they were told of their daughter’s rare condition that has no cure and no confirmed treatment options.
Jessica will now visit top doctors in the UK capital who will determine an action plan to tackle the disease.
Cheryl, a teacher at Coylton Primary School, said : “We were horrified when we first found out (about the disease), we just literally went into a complete haze of fear.
“Thomas and I often say that we feel like our world is crumbling and we are screaming inside in pain while trying to put a brave face on everyday and make sure Jessica is protected against it all.
“It is trying to live for today whilst
worrying about tomorrow, it is a lot of sleepless nights. There is no plan in place until we get to London and when we get there we don’t really know what the plan is. It’s the unknown that terrifies us, Jessica’s disease is full of unknowns.”
Jessica was first diagnosed with a brain aneurysm after she temporarily lost her vision and was rushed to hospital.
The Post reported how medics had been running tests on “stroke-like symptoms” since March 2017 Last summer the courageous primary two pupil underwent a painful biopsy taken from her skin which was tested for hundreds of known genetic diseases to try and pinpoint what was wrong.
But eight months later medics were left baffled when results showed an unknown disease that they fear will get worse.
One option could be the use of chemotherapy drugs to halt the progression of the disease.
Cheryl said: “We know that we will be seeing top specialists in London.
“We’ve been told by doctors all over the world that they are the best.
“They live it everyday and they won’t stop researching, but no one wants to go there with their child, it’s bittersweet.”
Caring big brother Aaron, 12, last year took on a virtual walk to Great Ormond Street Hospital to raise funds for the neurology department in Glasgow and
the London sick kids hospital.
After successfully coining in £11,600, the family are embarking on another fundraiser to fund more research into rare diseases in children and to help them with costs of their trip.
The family are going to climb Ben Lomond on July 2.
Cheryl added: “We would ultimately need to win the Euro Millions to make a dent in research.
“We are all going down to support Jessica. There is travel costs and Thomas needs to take time off work.
“I would literally do anything to help Jessica. She is our little warrior and bundle of joy.”