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Liverpool Echo
Liverpool Echo
National
Andrew Nuttall & Alan Weston

Toddler's missing teeth leads to life-limiting diagnosis

A "beautiful" toddler was given a devastating diagnosis after his mum noticed some of his teeth were missing.

Georgia Hughes noticed her three-year-old son Myles Tucker had some missing teeth and brought it up with his doctor.

After being referred for tests, she was given the devastating news by Alder Hey children's hospital that her "sweet and beautiful" little boy was living with a rare condition that affects only 120 children worldwide.

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Georgia, from Holywell, told North Wales Live how 4H leukodystrophy is a rare genetic disorder that affects the nervous system.

The condition is almost invisible to the naked eye - but there are some tell tale signs that can be spotted in infants.

She said: "I first noticed that he had some missing teeth.

"I brought this up with his paediatrician and she referred us to Alder Hey and it was there he was diagnosed with hypodontia - which is collectively part of the leukodystrophy."

The abnormal development of teeth (or lack of) is just one of three key signs of the illness.

The young mum explains how hypomyelination is another - which means that a "brain cover" has not properly developed.

Georgia said that Myles - who turned three in September - has had two MRI scans to confirm this in his case.

Another sign is "atypically delayed puberty" - but that obviously cannot be picked up until the child would normally experience those bodily changes.

Georgia said: "Myles is such a sweet and beautiful boy. He absolutely loves pre-school and this condition just doesn't stop him.

"He's full of determination and always has a smile on his face."

Georgia hopes that by speaking out other parents will be aware of the signs to look for in this rare condition.

She said: "The general life expectancy is ten years for a child with leukodystrophy. He'll need more professional care and support coming into his life as he grows up.

"As the disease progresses we'll need to keep an eye out for things like swallowing difficulties. These are things that are yet to happen but we've been told they can occur.

"I hope that by making more people aware of this condition we can help others understand it and know what to look out for."

Georgia has set up a fundraising page with the hopes of funding a cure for this illness. You can support her by visiting the page here.

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