A couple whose son was struck down by a rare form of childhood dementia have vowed to make it their life’s work to help find a treatment.
Parents Ben James and Scarlet Rojek-Smith, from Cheddington, were given the devastating news in October 2014 that son Roman had type C Niemann-Pick disease, a fatal condition known as childhood Alzheimer’s.
After enjoying a completely normal babyhood, Roman – now aged four – has fast deteriorated since his initial diagnosis.
Mum Scarlet said: “When Roman was first diagnosed, I was eight months pregnant with my second son Gabriel and panic-stricken. I didn’t know how severe the disease was going to be.
“In a sense, having Gabriel so soon afterwards was a blessing because it kept us going. He was hardly going to wait for us to pull it together.”
The LBO last interviewed the couple in December 2014, as they nervously awaited the results of Gabriel’s blood tests.
“At that point we were waiting to find out if Gabriel had the disease. He doesn’t, he’s just a carrier.
“I think it was a shock to everyone including the professionals how quickly Roman has deteriorated. His condition is quite aggressive. He’s now completely tube-fed, he suffers fromseizures and he’s completely immobile.”
Dad Ben added: “Within eight months, he lost the ability to eat, walk and talk.”
Ben is Roman’s registered carer, while Scarlet is a registered carer for her own mum. She said: “We’re both here 24/7 around the clock.
“In terms of prognosis, initially they gave him 10 years but his condition has been so aggressive it’s now more like two years.
“He’s having periods of dips where he loses a lot of ability and then he stabilises for a couple of months.”
The family are supported by community nurses, and Roman also receives respite care at Keech Hospice. “He loves it there,” said his mum.
It is estimated there are around 1,000 cases of type C Niemann-Pick disease around the world, with about 100 in the UK. Scarlet and Ben have already met three families affected by the illness in Milton Keynes.
With relatively few cases around the world, more research is now going into type C Niemann-Pick disease – whose patients suffer different levels of severity.
Roman’s parents have organised The Roman James Charity Football Match and Fun Day on Sunday, August 7 at Pitstone Memorial Hall and Recreation Ground raising money for Niemann Pick UK - a charity dedicated to further research of the illness.
Scarlet added: “Even after Roman is no longer here, we’ll make it our life’s work to find a treatment, and hopefully one day a cure.
“We know there’s not going to be an efficient treatment to save Roman, we’ve had to accept that.
“But we will make it our job to find a treatment.”
The charity football match begins at 11am on Sunday at Pitstone Memorial Hall, with kick off at 1.30pm.