Morecambe family's bid to enjoy time with two-year-old girl diagnosed as one of just eight children in UK with Krabbe disease
The family of a two-year-old girl with a rare incurable disease are hoping to make the most of their time with their little fighter.
Lexi Tindale has the incredibly rare neurological condition Krabbe disease, which affects just one in 100,000 births.
There are currently thought to be just eight children in the country with the incurable disease - and the average life expectancy is only two years old, although some children have lived up to eight.
It is now hoped that Lexi - who turned two in February - can enjoy as much of the time she has left with her family, once her Covid-19 shielding restrictions have been lifted next month.
Mum Erika also hopes to raise as much awareness as possible of the condition, which is a recessive genetic disorder caused by both parents having the exact same defective gene.
It was when Lexi was still very young that concerns were first raised about her development.
However, the disease is so rare that other conditions were ruled out before it was even considered.
"She was fine at birth but when she was little she started with really bad acid reflux and throwing her head back, which is a sign of the disease," Erika, 27, said.
"She was also missing milestones - she didn't learn to sit or crawl or walk.
"We had a lot of support but nobody knew what it was. We thought it could be a sign of autism as her older brother had just been diagnosed with it.
"She then started flicking her eyes upwards, and so we were referred to a neurologist and she had MRI scans on her brain and spine and some blood tests."
Lexi was initially tested for Rett syndrome, Batten disease and tubular sclerosis.
But just before Christmas consultants discovered she was missing the vital GALC (galactoscerebrosidase) enzyme, which covers a person's nerve cells, and after some more tests it was confirmed in March that she had Krabbe disease.
"It was horrific," Erika said. "I had no idea what it was.
"The life expectancy is two and Lexi is already two, so as unlucky as it is, we are one of the lucky ones because she's still here with us."
Although there is currently no cure for the disease, there is a campaign in the United States to test for the condition from birth.
If it's diagnosed quickly enough, a stem cell transplant can be done, which would give the children a bit more time.
Lexi is being regularly monitored, with a difficulty eating followed by her sight worsening being the likely signs that her condition is deteriorating.
"It affects every child differently so there's no guideline for how things might deteriorate," Erika said. "Every few months she has check-ups with a paediatrician and neurologist to check how she's doing.
"She can't move, she's unable to crawl or walk, she doesn't speak, she gets muscle tightenings and has very low muscle tone.
"But she finds a way to communicate with us.
"Eventually she will lose her sight and hearing and will have to be tube fed."
Lexi takes some medication to help her out, and has also been prescribed a sedative in case she needs it further down the line.
"It's about making her comfortable and happy, and giving her as special a time as we can," Erika said. "She's a fighter.
"I try and be happy around her, and save the sadness for night time."
Lexi was diagnosed just days later the Covid-19 pandemic struck the UK and Erika found herself looking after Lexi and three-year-old twins Lillie and Lucas without the possibility of any support.
Lexi is shielding until at least August 1, and, to keep her safe, her dad Ash Davis and other family members have only been able to see her and the twins through the window of their Torrisholme home.
However, Erika is planning day trips for the youngsters to enjoy once they are able to venture out,, and will be ensuring Lexi makes the most of her short life.
"I want to do as much as I can with her," Erika said. "She loves sensory rooms, and I want to take her to some zoos, anything that we can experience really."
Follow 'Lexi's Life' on Facebook to see how Lexi is getting on. You can also donate to a fundraising page here to help towards any specialist equipment which Lexi might need in the future.
What is Krabbe disease ?
Some of the symptoms that may occur include feeding difficulties, irritability, stiffness of limbs, clenched fists, fever & seizures, progressive mental and motor deterioration, sometimes leading to deafness and blindness.
Life expectancy of children with early infantile Krabbe disease is approximately two years.
A MEDICAL EXPLANATION
Krabbe disease is an inherited neurological condition with enlarged and characteristic globoid cells in the brain. A defect or mutation of the GALC gene results in a failure to make a special protein (an enzyme) required to breakdown and recycle complex lipids in the brain.
This enzyme is called 'galactoscerebrosidase'. When it fails to function, specific lipids accumulate and cause a breakdown of the myelin sheath that normally surrounds and protects nerve fibres. The breakdown of myelin leads to degeneration of the nervous system, especially the white matter, and therefore the disorder is referred to as a form of Leukodystrophy. The un-degraded complex lipids (galactocerebroside and psychosine) accumulate and are stored in special cellular bodies called lysosomes, and thus Krabbe disease is referred to as a lysosomal storage disorder.
Some 50 different inherited lysosomal storage disorders (LSDs) are known.
HISTORY OF THE DISEASE
Krabbe (pronounced Krab-ay) disease (also called Krabbe or globoid cell leukodystrophy or galactosylceramide lipidosis) is a rare genetic disorder of the nervous system. The disease is named after Danish neurologist Knud Haraldsen Krabbe (1885-1965) who first recognised the disease.
The symptoms can appear soon after birth in the ‘Infantile’ form or in older children or adults in the 'Juvenile' or 'Late Onset' form. Most patients have the infantile form. Affected infants may not show symptoms at birth but soon develop signs of neurological damage.
THE INHERITANCE TREE
Krabbe disease is caused by a deficiency of GALC ('galactoscerebrosidase') in the body. This is usually caused by a mutation of a gene called the GALC gene. The GALC gene is inherited from both parents, but Krabbe disease only arises when both parents pass on a faulty GALC gene, this is called an autosomal recessive pattern.
As such, although both parents each carry a copy of the mutated gene, they typically do not show any signs or symptoms of Krabbe disease. It also means that children with Krabbe disease can have siblings who do not inherit the condition.
Krabbe disease is very rare condition which means that statistically there is only one case in every 100,000 births. Approximately 1 in 150 people carries a faulty GALC gene.