Georgia Hughes has been told that her three-year-old son Myles Tucker is living with a rare condition that affects only 120 children worldwide.
North Wales Live reported the "beautiful" toddler was given the devastating diagnosis after his mum, from Holywell, Wales, noticed some of his teeth were missing.
The illness 4h leukodystrophy is a genetic disorder that affects the nervous system, a complain so rare that Myles's case is only the third identified in Wales.
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 it) is just one of three key signs of the illness.
Georgia said that hypomyelination is another. This means that a "brain cover" has not properly developed.
She added 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 is obviously detected later.
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."
She added: "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 in the hope of funding a cure for this illness. You can support her by going to www.justgiving.com/fundraising/georgia-hughes4.
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