A mum has said she wants her five-year-old son to “experience life as much as he can” after he was diagnosed with a rare neurodegenerative condition that has no cure.
Sophie, from Blackpool, said Bobby has MPS Sanfilippo Syndrome, often called “childhood Alzheimer’s” or “childhood dementia.”
The 35-year-old said Bobby was diagnosed after a visit to the speech and language therapy team because of a delay in his speech development, which led to a further referral for hearing examinations.
“To us he was our baby, you don’t notice things that others might call ‘abnormalities’ you just brush them off because you love your child and you love them however they develop,” she said.
Sanfilippo Syndrome Type A, also known as Mucopolysaccharidosis type III (MPS III), causes the gradual loss of abilities, such as walking and eating.
Sophie, who works at Blackpool Teaching Hospital Trust, said an audiology consultant noticed Bobby had some facial features indicative of the condition.