A Leighton couple have been left with an agonising wait to hear if their newborn son has the extremely rare and incurable condition which is threatening the life of their first child.
When two-year-old Roman James was first taken to hospital with a chest infection in April, doctors discovered he had an enlarged spleen and subsequently diagnosed the toddler with leukemia.
What came as a shocking blow for parents Scarlett Rojek-Smith and Ben James got worse as further testing found that their son actually has type C Niemann-Pick disease, a fatal condition known as childhood Alzheimer’s.
Less than a thousand people across the globe are known to suffer from the disease, which in Roman’s case has caused severe neurological regression.
Following the birth of Scarlett and Ben’s second son Gabriel on November 24, the couple now have an uneasy wait over Christmas and New Year to find out whether the newborn has inherited the genetic disease.
He has a one in four chance of being diagnosed with Neimann-Pick.
Scarlett, 23, of Meadow Way, told the LBO: “This has felt like a double blow for us and as a mum I found it very hard being pregnant knowing we could have another one with Roman’s fate.
“We’re staying positive and hoping that lightning doesn’t strike twice, otherwise it would be torture.
“We have a feeling of helplessness as even the professionals don’t know much about this, it is the fear of the unknown.
“When we were told Roman had leukemia we thought it couldn’t ever get worse, that would now be preferable to what he has.”
Sufferers of Neimann-Pick endure differing symptoms.
Having been completely healthy throughout his first two years the last 12 months have seen Roman gradually lose the ability to walk, talk and swallow without difficulty.
He is now learning sign language and has been given a walking aid, while Scarlett and Ben have been restricted to only feeding their son solid foods that dissolve.
The toddler also needs fluids thickened for him to be able to swallow.
As there is no known effective treatment Roman’s parents can only manage their son’s symptoms.
Scarlett said: “Doctors have said that this might as well be called Roman’s disease as every child presents differently.
“Nobody can tell us what will happen, Roman’s life is in his own hands.
“Throughout this he has been amazing, he is always happy and any obstacle he will overcome.
“He has learned ten signs in two weeks so now he is able to communicate again and he has figured out he can’t walk anymore so he has gone back to crawling.
“We can’t be sad as he has stayed so happy, at the tender age of two he can teach alot of people about life.
“We are cherishing every day we have with him and we are still hopeful for a cure.”
Shortly after Roman’s diagnosis Scarlett posted a message on the support page of charitable organisation Niemann Pick UK and was stunned to hear back from Milton Keynes-based Helen Carter, whose own daughter Holly was diagnosed with the condition in 2008.
The pair have now met and Scarlett and Ben have pledged their support to Hope For Hollie, the charity Helen established in March.
The Leighton couple also now wait on the results of Gabriel’s blood test, which will take between four and eight weeks.