A mum and dad have launched a desperate bid to find a cure for the rare illness which is slowly turning their daughter into a human mannequin.
Tillie Mae Mawdsley, four, was diagnosed with devastating degenerative disorder Sanfilippo syndrome two years ago.
The toddler is one of just a handful of youngsters in the world missing an enzyme creating a build up of sugar around her muscles stiffening her joints.
It means within just months the condition will leave her totally immobile unless someone else moves her arms and legs into position – just like a mannequins in a clothes store.
Tragically, the youngster is expected to die from the cruel illness before she is 14 unless she gets access to a new miracle drug – currently not available through the NHS.
Tillie’s dedicated parents Michala, 32, and Paul, 36, say medication called Genistein could halt the youngster’s deterioration – but they have no way of getting it in Britain.
Incredibly, the couple are bidding to pay for the £580,000 Department of Health clinical drug trials which could make it available to Tillie Mae themselves.
Heartbroken Michala says she hasn’t heard Tillie say ’mummy’ for months as the condition takes hold.
But the part-time customer services assistant, vowed to do everything to help stop her daughter’s deterioration.
She said: “It is almost worse that Tillie did speak as now I feel like I am losing more of her every day.
“Tillie is very bright. She gets frustrated when she cannot articulate how she feels or what she wants.
“She is like a tornado. She is busy, busy, busy. She won’t stop.
“It is terrifying for us as she has no awareness of danger. She will just run out on to the road.
“Some days you totally give up and then others she seems to be better. The doctors said she will not know she is ill, which is a comfort.
“She has started to become stiff, her left foot bends in and she cannot lift her arms above her head.
“We try to stretch Tillie’s limbs, but we cannot push her as she does not have a proper understanding of pain and does not cry when she is in pain.
“She will become like a mannequin – so stiff she can only move with our help.
“The thought of Tillie not being around is unbearable. We just cannot think about it right now. We just have fun everyday and try to be happy.
“We try to cram as much as we can into Tillie’s life. My camera is always out as we are so frightened for her future.
“We are so desperate to get this money. The drug would mean the world to us.
“I do not care what happens as long as we have Tillie here with us.”
Tillie, who lives with her mother, construction site manager father Paul and her older sister Lexie, six, in Hatfield, Herts., was diagnosed with Sanfilippo syndrome when she was two.
Michala added: “People always said Tillie looked different to Lexi, but we just said Tillie looks like daddy and Lexi looks like mummy.
“Now we know Tillie has the coarse facial features of Sanfilippo.”
She had spent 10 months of the year on antibiotics for a cold before she was transferred to a specialist who spotted the syndrome.
Luckily Tillie, who now goes to specialist nursery in Welwyn Garden City, Herts., learned how to talk, which is common during the first stage of the condition – when she appears like any normal little girl.
The second stage of the condition, which Tillie is entering, includes loss of speech, mobility and balance as the build up of chemicals attacks the brain and makes the muscles stiff.
Children with the condition also cry for no reason and get frustrated and can go on to develop Autism.
In the final stage of the fatal condition children have to be tube fed and are prone to colds and infections, which often kill them.
Miracle drug Genistien, which is found in soy foods, is non-toxic, can be taken by mouth and is relatively cheap, could delay the progression of the disease.
Developed at Manchester Children’s Hospital, it has already been used to good effect in the US.
But because the condition only effects a handfull of children in Britain each year funding for clinical trials to appraise the drugs viability for NHS use has not been provided.
A group of families are now trying to raise £580,000 to fund the clinical trial at Manchester Children’s Hospital with the help of new charity Wicked Genes.
The Society for Mucopolysaccharide Diseases has already raised £200,000 for the trial and funded early studies to test the drug on mice.
The proposed trial at the University of Manchester will determin the correct and safe dose to be prescribed to children with the condition.
Christine Lavery, chief executive of the society for mucopolysaccharide diseases, said the research would only take around four weeks once the funding is in place.
She said: “There is not much money from government to fund research and the Medical Research Council and Welcome Trust did not want to fund the Genistein trial.
“It is down to private trusts or people who have an interest to fund it.
“These children are rare and we need rare money. We have to do the research now or a whole generation of children will miss out.”
A Department of Health spokesperson said: “Government funding is available for research into rare diseases including clinical trials.
“Researchers are encouraged to apply for funding through the National Institute for Health Research.
“Applications are judged in open competition and awards are made on the basis of the scientific quality of the proposal.
“The Department of Health is increasing its annual investment in health research to over £1 billion.”