Parents’ fears for baby with rare disorder
Jun 20 2008 by Paul Loraine, The Journal
THE parents of a 13-month-old boy born with a rare genetic disorder which may see him die before reaching adulthood have spoken of their ordeal.
Ross Phillipson has a vital enzyme missing in his blood – a peroxisomal disorder which has left him with a number of complications including blindness and impairment to his hearing.
He also has extremely poor muscle tone, meaning it is quite possible he will never walk and he experiences serious respiratory problems.
Parents Carl and Caroline, who look after him at their home in Whitley Bay, said he had been fitted with a tube in his windpipe in order to maintain his airway.
They yesterday gave their full backing to The Puffin Appeal – an effort to raise £2m for a new childhood respiratory department in Newcastle.
Mr Phillipson, 33, a company director, said: “Before he had the tracheostomy tube put in, his oxygen levels were dangerously low.
“We were trained in how to change the tube which we do every day.
“It’s quite onerous on the parents because we have to care for him 24 hours a day. It’s extremely difficult.”
Ross’s condition leaves him so fragile, said 35-year-old Mrs Phillipson – an account manager for an advertising firm – that every time he gets a chest infection they are uncertain of the outcome, as ultimately he is likely to die of pneumonia
“Some kids with the condition die at two, some at nine, some at 14,” she said. “We just don’t know and it could happen at any time.”
Ross – who is fed through a tube in his stomach – requires round-the-clock care and his parents regularly go to sleep at around 8.30pm to prepare for a nighttime spent in and out of bed, managing his airway.
“You never ever expect to have anything other than a normal healthy baby like everyone else,” Mrs Phillipson said. “So when you get delivered the news that your child has a life-limiting condition, your world just crashes down.
“It affects everything – your relationship, your extended family who are worried about their son and daughter and their grandson.
“Sometimes we wake up and think one day we will have to face the most horrific ordeal some day in the future.
“Will we be strong enough to cope? The main thing that keeps us going is that Ross is not in any pain at the moment and he doesn’t know any different. He laughs and he smiles and that lifts you.”
The couple are expecting their second child, another boy, in 10 weeks and they had genetic testing done which confirmed the new baby does not carry the defective gene. “We were delighted to hear that because there was a one in four chance that he would also have the same genetic disorder,” Mrs Phillipson added.
She said any strengthening of services which the Puffin Appeal may bring about in the North East would be extremely welcome.
“Any improvement in the quality of care would obviously be a good thing and so would the research department,” she said. “If it meant that there was a nurse with him at all times when he’s in hospital then we could have a little bit more peace of mind.”
Rare condition affects muscle tone
ROSS’S condition, classified as non-classical Zellweger Syndrome, is extremely rare.
The genetic disorder causes floppy muscle tone in his body – affecting the muscles that control both physical movement and breathing.
Because his muscles don’t keep his airway open, it flops inwards and causes respiratory problems. He was also born with club feet, which was corrected by surgery.
There have been isolated reports of people with peroxisomal disorders living into adulthood but the majority of sufferers die as children.