Tillie Mae Mawdsley has an extremely rare and incurable disease called Sanfilippo
Tillie Mae Mawdsley spent six years on a clinical trial which her parents say stalled the progression of the extremely rare – and incurable – Sanfilippo disease.
She was diagnosed with the condition, likened to a form of childhood dementia, as a toddler when her family was told to "go home and make memories".
The degenerative disorder is caused by a missing enzyme and creates a build up of sugar around the muscles, stiffening the joints and resulting in early death.
It affects only a handful of children in the world including Tillie Mae who is now unable to talk and is slowly becoming less mobile every day.
We feel like the rug has been pulled from beneath us and she's been handed a life sentence
Mother Michala Mawdsley, 36, said: "We feel like the rug has been pulled from beneath us and she's been handed a life sentence. It's difficult to accept there's nothing we can do for her now.
"Tillie's treatment gave her a quality of life. The trial was making her better and I believe that drug was working. I feel that she's doing better than some children we have met who haven't had the treatment.
"It was a huge risk for us to take but I felt like I was doing something. I'm grateful that we were part of it."
Tillie Mae was one of six children in the UK offered the enzyme replacement therapy (ERT) by Shire, an American pharmaceutical company.
Shire stated that it did not find any improvement in patients' condition but Tillie Mae's family are adamant that the drug stopped her symptoms from worsening.
Tillie Mae spent six years on a clinical trial which stalled the progression
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The treatment involved her making a 400-mile round trip from her home in Hatfield, Herts., to Manchester Children's hospital every four weeks.
She was then given the drug via a port inserted into her spine, which was directed into the cerebrospinal fluid (CSF) to cross the blood brain barrier.
Without treatment, children with Sanfilippo syndrome regress back to being a toddler as they lose the all the skills learned in early life.
Sufferers are not expected to live past 13-years-old and lose the ability to move, swallow and eventually, breathe.
However, Mrs Mawdsley and her husband Paul, 40, believe their daughter's symptoms were stalled thanks to the revolutionary drug.
Tillie, 9, with her sister Lexie, 10
Mrs Mawdsley said: "We were grateful that she had the opportunity but she stayed the same and that was enough for us.
"They wanted to see a change in children and argued the drug wasn't causing any cognitive improvement. They believed it was going to be the next big thing but then one day the trial just stopped and they never really gave us any real reasons why.
"When Tillie Mae's sister Lexie found out that the medicine had stopped she said 'Tillie Mae is going to die now', it was awful hearing it.
"Being part of something made us feel like we were going somewhere so it's been a massive blow but we have to be strong for Tillie Mae."
The family feel more could have been done and are angry that the trial was stopped without warning.
The family feel more could have been done
Mrs Mawdsley said: "We just feel after six years Shire should have had enough evidence before then to say if it was not working.
"At no point were we thanked for taking part and with regards to removing the device and it seems many children that took part in the clinical trial had complications with the removal of the device.
"With Shire being such a large company it is difficult to argue our case."
Tillie Mae has no understanding of what is happening to her because of the condition which is likened to a form of childhood dementia.
"It's memory loss, the disease attacks the brain," said Mrs Mawdsley, who works as a part-time customer services assistant.
Tillie having a transfusion at Manchester Children's hospital
"She is doing extremely well but the disease has got her. It's horrible, it really is like a childhood dementia.
"She's got everything to live for and a right to live but just because it's rare, there is no cure."
Mrs Mawdsley and utilities manager Paul, also parents to ten-year-old Lexie, are desperate to raise awareness of the condition – and funds to try and find a cure.
They are hoping to set up a charity to raise the profile of Sanfilippo syndrome help aid future research.
Mrs Mawdsley said: "We need to raise the funds and raise awareness. We want something here for children suffering in the UK.
The family are desperate to raise awareness of the condition
"It would be a dream to find a cure for Sanfilippo. People need to know what it is just like they know what meningitis and Down's Syndrome is.
"For now we're continuing to make memories and just living day by day, taking each day as it comes before Tillie Mae runs out of time.
"Hopefully in time we can help to find a cure."
A spokesman for Shire said: "Shire is extremely disappointed to have announced that this Phase 2b study did not meet its primary endpoint of slowing the cognitive decline in patients.
The family are hoping to set up a charity to raise the profile of Sanfilippo syndrome
"Analysis of secondary endpoints and exploratory endpoints, which were designed to further examine whether there was a therapeutic effect on slowing cognitive decline, an effect on behavioural achievements and slowing the loss of brain volume, were also not met.
"The results did not show any slowing of disease progression in these patients compared to control (untreated) patients.
"Given the lack of efficacy seen in the results of this study, Shire made the decision to close the MPS IIIA program, which includes discontinuing any ongoing extension studies.
"MPS IIIA is a devastating disease for which there are currently no approved treatment options.
"We are disappointed for and sympathetic to the Sanfilippo community and thank all the patients and their families for their willingness to participate in these trials."