THE only child in the Thames Valley with a rare, life threatening lung disease is living life to the full despite being connected to oxygen tubes 24 hours a day.
No one knows how long battling 14 month old Oscar Stone will have to continue the treatment, but it will certainly be for years to come.
But because his condition is not considered life-limiting he is still able to do anything any other toddler can, although he does get a “puffed out” quickly according to his Mum, Kelly, who says he “melts the hearts of everyone he meets”.
After failing to grow as quickly as expected, eating less and tiring quickly, the Aston Clinton toddler began to shows signs of breathing difficulties.
Doctors suspected Oscar might be suffering from bronchiolitis, but following weeks of IV antibiotics, tube feeding and oxygen therapy he was transferred from Stoke Mandeville Hospital to the John Radcliffe in Oxford.
After a lung biopsy was sent to the Great Ormond Street Hospital, he was diagnosed with NeuroEnocrine-cell Hyperplasia of Infancy (NEHI), which causes respiratory distress.
Initial tube feeding helped Oscar with weight gain as he was not strong enough to feed, and despite no longer needing it Kelly has to work hard to keep weight on him, planning high calorie meals and sometimes putting double cream in his feed.
Now Oscar is oxygen dependent, meaning he even has to sleep with the tubes, something which causes concern for Kelly and husband Dan because of the risk of strangling, and it is unclear when his condition might improve.
“He will start by having short breaks off of oxygen and go from there but only when he is ready,” said Kelly.
“At some point it is expected that he will only need oxygen whilst asleep and when poorly.
“He is likely to need it whilst at pre-school and possibly at school too, although we hope by the time he is at school that he will only need it whilst asleep.”
The couple, who also have a six-year-old daughter, Amber, have to be constantly on the lookout because of the risk of infection to Oscar, and he regularly gets ill and has to return to hospital.
“What would be a simple cold for me or you means a trip to the hospital for him,” said Kelly.
Nevertheless, Oscar is as happy as any other child in the Vale.
“He is very determined and really doesn’t let anything stop him,” said Kelly. “We love him so much. He is a pleasure to have.”
Many doctors are unable to identify NEHI as it is so rare, increasing the risk of misdiagnosis, and Kelly even had to tell Oscar’s paediatric doctor about it.
But she praised the work of the children’s team from Stoke Mandeville’s Florence Nightingale Hospice and the Children’s Interstitial and Diffuse Lung Disease (chILD) Lung Foundation, which provides support to families affected by a range of conditions and helps raise awareness.
It has also arranged a three-day retreat for affected families from around the country so they can share experiences and make new friends, which Kelly is looking forward to.
“It can be quite isolating as there is not usually someone to talk about it,” she said. “And it will be nice for Oscar to see other children on oxygen and for his sister to meet other children with conditions.”
The oxygen therapy is used to reverse the effects of NEHI, but there is currently no cure or treatment to aid recovery, only medicines which can help with the effects.
The disease inhibits the lungs’ ability to undergo gas exchange, often causing oxygen deprivation in the blood. The body tries to compensate by using accessory muscles to breath and by breathing faster, causing respiratory distress.
Most children will show signs of the condition when they get their first bug.
You can watch a video of Oscar’s story at http://www.youtube.com/watch?v=f5HfAF71IKk.