A heartbroken mum is trying to raise £2m in the desperate hope of finding a cure for her teenage daughter who is the only person in the UK with a rare motor neurone disease.
Carina Thurgood, 50, said she is losing a bit of her daughter Maddi, 18, everyday to the horrific condition Spastic Paraplegia Type 15 (SPG15).
The condition is a rare form of motor neurone disease that affects a person’s limb movements, their ability to breathe, their eyesight and brain functions.
There is currently no cure and now Carina is trying to fund vital research to help doctors find one for her daughter.
She watched her once bubbly and active teenager struggle to walk and now has a wheelchair meaning she’s had to give up ice skating.
Her mum said it’s a “ticking time-bomb” as they race to try and find a cure as the condition progressively gets worse and worse every day.
The family from Essex are now trying to raise £2 million to help find a cure.
Carina said: “This condition causes severe disability and we were told she would not be able to walk, it just progressively gets worse.
“It’s heartbreaking to watch your daughter go through that. It’s like a living nightmare.
“It really is a ticking time bomb. Every day that goes by, I’m losing a little bit of my daughter.”
When Maddi was just 14, her parents noticed that she had suddenly developed a limp.
Her mum said: “It was pretty much out of the blue. She just started walking with a really mild limp but I didn’t think it was anything serious. I just thought maybe it was teenage swagger!
“No way could I ever have dreamed that it was anything serious because she was really well.
“Maddi was one of these kids that never went to the doctors, she was never unwell.”
Carina took Maddi to their GP and she was then seen by an orthopedic doctor- but the family were no closer to finding out what was wrong with Maddi.
Doctors told Carina that they weren’t concerned and told her to bring her back in six months- but Carina wanted a second opinion as she knew “something was wrong.”
The family were then told by a second doctor to take Maddi to Great Ormond Street Hospital in London where they discovered there was something neurological going on.
A brain scan identified that Maddi had some kind of progressive condition but doctors still didn’t know what it was.
In the hunt for answers Carina even flew to America to speak with doctors there who recommended that Maddi be given a genetic test specific to the condition.
While the test cost around $10,000 in America the family asked Great Ormond Street to carry out the test which cost the family over £2,000.
After Maddi was initially given the wrong diagnosis of another fatal disease, they realised Maddi had Spastic Paraplegia Type 15 (SPG15) at the age of 15.
Carina said: “One of the doctors actually said she had never come across anyone with this condition before. It was the first for Great Ormond Street Hospital.
“We were told: ‘We’re really sorry but there’s no treatment for Maddi because it is so rare.’
“On my way from hospital I just kept thinking we’re just going to have to start researching about it.”
Carina started reaching out to doctors as Maddi’s condition continued to deteriorate.
She said: “Her condition is progressing more and more to the point where we had to get a wheelchair for Maddi because she was finding it really difficult to walk.”
During that time, Carina managed to find a surgeon in America who could tackle the spasticity in her legs- which causes stiffness and can affect normal movement.
Maddi, now 18, had the operation in September 2019 in America and was successful though does not cure her condition.
Carina said: “In no way did it cure her condition. We’re trying to do everything we can to make her life better. We’re just trying to keep her moving.
“We’re targeting the problems that come with the condition because once it happens, you can’t reverse it. Essentially the cells are dying.
“Maddi’s condition is just going to get worse and worse so it’s a really sad situation. In a few years, we just don’t know what’s going to happen.
“The scary part is, what’s happened now, we won’t get back.”
Scientists at Sheffield University have said they are prepared to work on a cure for Maddi, but the family will have to find the money themselves – around £2 million.
Carina said: “She’s an amazing girl, she never really complains, she’s always smiling no matter what.
“She used to go ice skating but anything like that she can’t do anymore. She doesn’t have a teenage life anymore, she has been robbed of that.
“Every single day, this overtakes my life. I’m looking after Maddi, taking her to physio, researching every night.
“I need to find a way to help my daughter.
“If a million people donate one pound then that would be huge for us. We’re having to fight for this for Maddi’s sake and we desperately need help.
“I’m just a mum who is trying to find a cure for her daughter.”
Carina, her husband Paul, 63, and their eldest daughter Alex, 24, have had no option but to start their own fight to save Maddi’s life.
The family have since set up a charity called the Maddi Foundation which can be found here: https://themaddifoundation.com/
You can donate to the cause by visiting the family’s Go Fund Me page here: https://www.gofundme.com/f/SavingMaddi