A FLINTSHIRE mum is raising awareness of the 'extremely rare' brain disease her son was recently diagnosed with, whilst also raising money for a charity working to find a cure.
Georgia Hughes' son Myles was recently diagnosed with 4H syndrome Leukodystrophy, POLR3B type - an extremely rare degenerative brain disease which affects the nervous system.
Myles, who is three years old, was diagnosed with his condition at Alder Hey just last week.
His mum Georgia is 24-years-old and lives in Holywell. Due to the level of care that Myles requires, she is unable to work.
Following his diagnosis, she said: "I knew in my gut all along he had 4H, I just didn’t know which mutation until the geneticist revealed it. I now feel adamant to raise awareness of the condition but at the same time very upset."
Georgia is hoping to raise £1,000 for the Yaya Foundation which is dedicated to finding treatments and a cure for 4H Leukodystrophy by funding and connecting critical research efforts.
It also works to provide education, support and advocacy for children and families living with 4H Leukodystrophy today.
Georgia added: "There are currently 60 different kinds of leukodystrophies in the world and heartbreakingly this (one that Myles has) is one that has no cure.
"If it wasn’t for the Yaya Foundation I wouldn’t have had the opportunity to speak to Dr Nicole Wolf, based in Amsterdam. She reviewed my son's MRI scans and confirmed this disease, before the geneticist confirmed which mutation he had.
"Myles, despite all of his set backs is the happiest child you could ever meet. He has high levels of determination and is extremely affectionate.
"I would ask people to please consider donating to this cause, all proceeds will go to the Yaya Foundation who are tirelessly working to find a cure for this heartbreaking disease.
"4H syndrome shortens your life span considerably and has devastating affects. As well as wanting to raise as much awareness as I can, I hope for a cure for all our children."
People with 4H leukodystrophy often have motor problems, including stiffness of the muscles and joints and problems with balance and coordination.
Leukodystrophy is a group of conditions that affect the white matter of the brain. These diseases damage the myelin sheath, which surrounds and protects the nerve cells in the brain and spinal cord.
Georgia's fundraiser has so far collected £295 (figure correct at time of writing). To donate, visit: www.justgiving.com/fundraising/georgia-hughes4
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