The mum of a five-year-old who became the first child in the UK to undergo a revolutionary medical trial from America has now signed her daughter up for an extension study, in the hope of finding a cure for Batten disease, a neurodegenerative disease.
Little Matilda Moffatt has been travelling with mum Melanie to London’s Great Ormond Street Hospital on a regular basis, where a needle is placed into her brain, and enzymes are inserted to replace those missing because of her condition.
Twelve months on Melanie, from Leyland, is still hoping that things will improve for Matilda and other families.
“The pharmaceutical company has evidence that it is slowing down the disease,” she said.
“They have extended the trial because of positive results, and Matilda has been accepted on to that for another year, after which she will be reassessed.
“She has deteriorated, especially with her eyesight and her mobility, but the disease affects all children at different rates, so it’s difficult to tell if the trial has slowed things down for Matilda.
“In my heart, I feel like it’s helping, and it allows us to live in hope, so we can’t take that away.”Mum Melanie Moffatt
“In my heart, I feel like it’s helping, and it allows us to live in hope, so we can’t take that away.
“I felt like I was putting my neck on the line at first, especially being the first family from the UK to do it, it was so frightening.
“But I am glad we have done it. If you don’t try, they will never find a cure, and someone’s got to put themselves forward.
“It’s become our normal way of life now.”
But that ‘normality’ is far from the life devoted mum Melanie imagined having with her only child.
Until she was aged three, Matilda was like any other little girl. But she started suffering seizures, and was later diagnosed with late infantile batten disease.
Melanie said: “I refused to accept it at first; you never think anything like that is going to happen to you or your family.
“Your normal life of work and holidays changes overnight, it’s such an emotional rollercoaster.
“You go from crying to being angry, and you just have to take every day as it comes.
“If I’m happy, Matilda is happy, so I try to keep myself strong for her.
“I don’t really know if she’s fully aware of her surroundings, and it’s heartbreaking, but she absolutely loves music and Peppa Pig.
“Her face lights up when ‘Next To Me’ by Emeli Sandé comes on the radio; that’s her favourite song, she gets all excited.
“Her hearing hasn’t been affected, which is good, and she loves it when I sing ‘You Are My Sunshine’ to her.”
Matilda is quite the little daredevil too, having screamed with laughter when she and Melanie went on a ‘fast ride’ at Peppa Pig World in Hampshire.
And now, Melanie is excited about taking Matilda on her first holiday since she was three – to the magic of Disneyland in Paris.
A Just Giving page was set up for Matilda in 2013 to raise money for the dream holiday, and with the help of the Make A Wish Foundation, that dream is finally coming true this summer.
Melanie, who has also done fund-raising for Rock FM’s Cash For Kids and organised a family fun day last year for the causes, is now saving for an extension at her home, in preparation for when Matilda becomes bed-bound.
“The council has said they’ll pay for a lift, but I don’t want her stuck upstairs,” she said.
“She loves being outside so I want to create a bedroom and bathroom downstairs with doors opening up to the back garden.
“I don’t want her to miss out.
“It will get to the stage where she’ll just be able to smell and hear, and I want her to be able to smell the flowers and listen to the birds.”
Children with Batten disease normally become bed-bound between the ages of six and 11, and with Matilda turning six in July, time is now pressing.
She is still able to walk with help, and Melanie says her mobility is better after each round of treatment in London, which she has every 10 days.
Melanie’s sister and brother-in-law, Claire and Paul Wilding, are preparing to complete a sponsored bike ride to help with the fundraising.
Visit www.justgiving.com/Claire-Wilding1 to donate.
And this week, Melanie and Matilda are urging the people of Leyland to wear orange, to mark Batten Disease Awareness Day on Friday, June 5.
Melanie said: “It’s not about raising money this week, it’s about raising awareness.
“There still isn’t a cure, but if children could at least be diagnosed earlier, it makes a huge difference to the family.
“You sometimes feel like you’re banging your head against a brick wall, because you don’t know what’s wrong with your child.”
Symptoms of the genetic life-limiting disease include visual impairment resulting in blindness; epilepsy with severe seizures; rapid involuntary muscle spasm; difficulties sleeping; the decline of speech, language and swallowing skills; and the loss of mobility.
The form of Batten disease which Matilda suffers from is so rare that it occurs in fewer than one in 100,000 children, and sufferers don’t often see their 12th birthday.
For more information about the condition, visit the Batten Disease Family Association website at www.bdfa-uk.org.uk.