Eccles family to take twin boys abroad to treat incurable disease that has robbed sister of ability to walk and talk
12:05 23 January 2016
Copyright: Archant 2016
A heartbroken family are taking their two baby sons abroad for a lifeline treatment for an incurable genetic disease, which has already left their older sister unable to walk or talk.
What is Metachromatic Luekodsyrophy?
Metachromatic Luekodystrophy (MLD) is a genetic disorder which currently has no cure.
It is caused by the mutation of a gene which is responsible for making a specific enzyme. The lack of the enzyme leads to chemicals called sulfatides building up and damages the nervous system.
In particular, the chemicals damage the protecting myelin sheath that surround nerve cells, which leads to a progressive loss of physical and, later, mental skills.
Life expectancy for those diagnosed with the condition depends on when the symptoms start, but is thought to be about five years in children.
When both parents carry the gene mutation that leads to MLD, there in a one in four chance the children will have the disease.
It is thought about one in 100 people carry the mutation.
The only treatment is bone marrow transplant or stem cell transplant.
There are thought to be three types of MLD - late-infantile, affecting children about one or two years old, juvenile, children between four and 12 years old, and adult, which may occur between age 14 and 16, or as late as 40s and 50s.
Children with the late-infantile MLD, the most common form, have difficulty walking when they are about one.
It is diagnosed in about one in every 40,000 births.
In a fortnight, Leah and Shaun Scott will take twins Oscar and Phelix to Italy for a pioneering gene therapy treatment to fend off the condition that will rob their three-year-old sister, Paige, of her life.
The nightmare began last January when the couple, from Eccles, near Attleborough, noticed Paige was not walking as she should be and, worried, took her to hospital.
Doctors diagnosed the bubbly youngster with the life-limiting Metachromatic Leukodystrophy (MLD) and then pregnant Mrs Scott, 27, was warned her twins had a one in four chance of inheriting the disease from the couple, who are both carriers of the dormant gene.
In a cruel blow, when the boys were born last June doctors confirmed the worst - they too had MLD, which, in children, is thought to give a life expectancy of five years after symptoms show.
And while Paige’s condition is too advanced to benefit - she has lost the ability to walk and sit up and is losing her sight - when the couple heard about the trials at the University School of Medicine, in Milan, which could see the six-month-old boys live a normal life, they knew it would be a race against time.
Mrs Scott, a former fashion retail manager said: “The last year has been absolutely traumatic for us as a family. Our bubbly little girl has lost all her skills and it has happened so quickly. We knew the boys had a one in four chance but when they confirmed the news it was devastating.”
It is hoped that as the boys’ symptoms are yet to show, the treatment - which could take about six months - can reintroduce the missing enzyme that causes the condition back into the bone marrow and stabilise their condition. Although with just five years of previous research, scientists cannot be certain.
And while the therapy itself will be funded by pharmaceutical company GSK - who agreed to treat the boys on compassionate grounds after the trial closed - they have issued a plea for help with the costs of keeping the family together.
Can you help?
If you would like to help, the Banham Barrel pub will be hosting two fundraisers next month.
On Saturday, February 20, a dance event will run from 6pm to about 2am.
There will DJs, entertainers, stilt-walkers and fire-spinners.
Tickets, of which there are 200, cost £10, with all funds going to the Scott family.
They can be bought by calling the pub on 01953 888593 or phoning 07881537086, 07715555105 and 07455142462.
Meanwhile, one week later on Saturday, February 27, an auction will be held from 2pm to the early evening.
It will include refreshments, cakes, live music and food from Natural Born Grillers BBQ and Catering.
Some of the prizes include a limousine pick up to Old Buckenham airfield for a flight around East Anglia in a Cessna 172 plane, hampers, vouchers and tickets to watch Ipswich Town play MK Dons in April.
The pub is at The Appleyard on Kenninghall Road.
“We want to enjoy as much time together as a family as we can, so we started fundraising so we could go out together,” Mrs Scott said. “We couldn’t bear leave our gorgeous girl at home when she needs us.
“We need a qualified nurse, care for the children, help with the bills at home and disabled accommodation while we are out there, so the costs start to add up.”
Generous well-wishers have already raised almost £20,000 for the family, who are thought to be the largest sibling group in the UK affected by the condition.
If you would like to donate, visit www.gofundme.com/6q6799a4
Do you know of a family campaign we can offer support to? Email firstname.lastname@example.org