A mum has slammed doctors for failing to spot her child’s rare condition – meaning she will never grow up and is losing her ability to walk and speak.
Little Camilla ‘Millie’ Pengelly-Wood, aged four, was growing up normally until she was one – but her skills are now reversing.
She has a rare disorder called Metachromatic leukodystrophy (MLD) which means she can’t grow up.
It damages the ‘white matter’ of the brain, causing a progressive loss of physical and, later mental skills.
It’s believed Millie has the most severe form, late infantile, which generally means the child only survives for 5-10 years.
Currently, she cannot sit unsupported, it takes her weeks to overcome a virus and even struggles to do everyday activities which involve using fine motor skills.
The adorable “cheeky monkey” loves singing, swimming and playing with her Peppa Pig and Paw Patrol Fan toys, but is no longer able to do any of them.
Her mother Lucy Pengelly, 31, from Woodmancote, Glos., has blasted doctors for not diagnosing her daughter sooner as stem cell treatment may have been an option.
She said: “It is really sad that she was not diagnosed sooner as she would have potentially been able to have stem cell treatment.
“We are still looking for anything that could still help her.
“This year has been a big step back, the MRI scan has shown how the white matter in the brain has been affected. We should not have had to wait so long really for the official diagnosis.
“Doctors didn’t give us the full diagnosis until it was too late – it was in March this year but we had the tests done back in November which showed the faulty genes.
“I feel let down by it.”
Lucy, now Millie’s full-time carer, had at first noticed her daughter was reaching milestones but her progression then began to wane when she turned one.
But the hope and excitement turned to heartbreak when they realised the little girl was developing the wrong way and losing her ability to walk and speak.
She was diagnosed in March this year and since then Millie has deteriorated and now does not walk at all.
“I noticed that Millie did not progress much past her first steps,” she added.
“Then her feet were turning a little inwards when she was walking and her coordination was off. It just never seemed to progress.
“There seemed to be a lot of movement in her joints so we went to see a paediatrician who noticed that her eyes would flicker and she had an ever-so-slight tremor.
“There is no definitive known treatment or cure.
“Millie was what you would class as a normal child and she was hitting her milestones. Then just slowly the condition robbed everything back.
“There are three stages of MLD but it’s hard to say where Millie stands.
“She didn’t start to fully regress until January of this year. She is very up and down.
“A bad day would be not understanding her at all and just deciphering the noises coming out of her mouth.
“Millie presents in a unique and unusual way at first, she plateaued for such a long time.
“It’s devastating watching your child have their life robbed away from them.
“It’s hard to explain unless you have been through something similar. You expect your child to be ok, to do things and think about the future.
“We are grieving someone who is sat infront of us – there’s nothing that can be done now.
“On the positive side of things she is still her happy little self. You ask her if she is a little cheeky money, and she always laughs and says yes.
“Her legacy should be to create more awareness of this horrific disease and help those trying to find a cure.
“Now she is being fed through a nasogastric tube as well as meals to try and help her put on weight and to give her more energy.
“We also have to make sure that she does stretches so she can stay supple as she does not move much physically now.”
The family do not want to live under an outlined prognosis of Millie’s future and say they will do what they can to support the youngster and continue making memories.
Lucy said: “Our friends set up a wonderful crowd funding page to send us to Disneyland Paris and she absolutely loved that.”
“There is still an awful lot that Millie needs. The family has been donated sensory equipment and they keep trying to adapt and adjust to her needs.
“I am trying to get what I can to keep her as able as possible. We need to be able to get her a buggy and a car seat.
“However, at the moment she has a special indoor chair to help support her to sit up and a standing frame.”
A fun day to raise money for the equipment that is needed to help Millie will be held at Bishop’s Cleeve Football Club on July 22, from 11am till 5pm.
The late infantile form of MLD is the most common, and produces symptoms between the ages of 1 and 2. The juvenile form generally becomes apparent between the ages of 4 and 12, and the adult form occurs after age 14.
With modern treatment and care, the child may survive for 5-10 years. Death generally occurs as the result of an infection such as pneumonia.
