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Little girl, 4, is battling rare disease

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Monday, July 17, 2017

Mille was growing up normally until she was a year old.

Now she is slowly losing the ability to walk and talk due to a rare disorder called metachromatic leukodystrophy, which affects the part of the brain responsible for carrying nerve impulses in the body.

The condition causes a progressive loss of physical and mental skills.

It's believed Millie has the most severe form, late infantile, which means she has a life expectancy of five to ten years.

Millie can no longer sit unaided nor can she sing, swim or play with her toys.

Her mother Lucy Pengelly, 31, from Woodmancote, Glos., claims doctors failed to spot Millie's condition soon enough.
Millie has even forgotten how to play with her toys

She said stem cell treatment may have been an option for her if it had been spotted earlier .

Lucy 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.

We are grieving someone who is sat in front of us - there's nothing that can be done now.
Lucy Pengelly, Millie's mum

"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, noticed her daughter was reaching key milestones but it got worse when she turned one.

She was heartbroken when she realised her little girl was developing the wrong way and losing her ability to walk and speak.

Millie was diagnosed in March this year and since then has deteriorated.

Now she cannot walk at all.

It's devastating watching your child have their life robbed away from them.
Lucy Pengelly, Millie's mum

Lucy added: "I noticed that Millie did not progress much past her first steps.

"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 known cure for Millie's condition.
What is metachromatic leukodystrophy?

Metachromatic leukodystrophy is a rare disorder that affects the white matter of the brain.

It causes a progressive loss of physical and mental skills.

The white matter of the brain is the fatty substance that surrounds nerve cells and connects the gray matter of the brain (where the never cells are stored) to each other.

Cause:

It is caused by an abnormal build-up of substances in the nerve cells, particularly in the white matter of the brain.

The substances are usually broke down by enzymes in the body but those with this disorder cannot break the substances down.

As the brain is the control centre of the whole body, blockages in the messages to other parts of the body will prevent those parts working efficiently, even though the parts themselves seem quite healthy.

It is an autosomal recessive disorder, which means that both parents are carriers of the disease.

Treatment:

There is no known cure for the disorder but some treatments are available to manage symptoms.

Drugs can be given to control muscle spasms, treat infections and control seizures.

Pain relief drugs can also be used and feeding can be assisted.

Physiotherapists can also help parents and carers care for children with the condition.

Lucy explained how her daughter seemed to be a normal child before she was robbed of everything.

She said: "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.

"It's devastating watching your child have their life robbed away from them.

"We are grieving someone who is sat in front 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."

Author: Andrea Downey, Digital Health Reporter
Source: The Sun
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