Reggie Griffiths is thought to be the youngest person in the UK ever diagnosed with Sanfilippo syndrome - a terminal condition which is usually fatal in late childhood or early adulthood.
Rebecca Griffiths, 25, has revealed her son was diagnosed in January and was told nobody with the syndrome lives past the age of 20.
Reggie was transferred to Birmingham’s Children’s Hospital after a paediatrician at Royal Stoke Hospital first noticed the symptoms.
“I didn’t cope well at first but I’ve got two other children to be a mum for and I want to give Reggie the best life possible,” said Ms Griffiths of the diagnosis.
“He will just slowly deteriorate to the point where he will be wheelchair and bedridden and won’t be able to eat. You just deal with each problem step by step."
Ms Griffiths added: “I want to make the most of him while he’s with me and give him amazing memories while he can recall them. There’s no point me falling apart.”
Usually diagnosed in childhood, sufferers experienced deafness, hyperactivity and behavioural problems, developmental delay, and seizures during the later stages of the condition.
“This case is one of the youngest I’ve come across,” said Bob Stevens, group CEO of the MPS Society.
“It is definitely very rare, especially outside of families that don’t have a history of Sanfilippo syndrome.”
“Each case is different depending on the individual but life expectancy is usually the late teenager years.
“There are increasing developments in terms of gene therapy and genome editing which has led to better diagnoses and treatment,” Stevens added. “We offer help and support during every step of their journey.”
Ms Griffths and Reggie’s father Jake Huckfield, 27, said they hoped to fundraise to help provide more research into the condition.
”It would be of some comfort in the future if we can say we’d contributed towards a cure in any way we can,” said Ms Griffths.
“A lot of people try and raise money for treatment abroad and we were told there were clinical trials - but I don’t want to put him through that.
“None of the clinical trials have worked so far and you don't know he is going to react to them," she added.
“I don’t want him being used as a guinea pig, so we’re just focused on giving him the best life possible while we have him with us and accept what's to come.”
Additional reporting by agencies
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