Rugby boy with rare lung condition gets ready for his first Christmas without feeding tubes

Now six-year-old George Mayer-Maguire is getting ready to enjoy his first Christmas without the tubes.

But his family also know that there is a long way to go for George - and they are backing an appeal to fund more research into George's condition.

When has was born, George was diagnosed with lung surfactant deficiency, a rare condition that causes breathing problems due to faults in the ABCA3 gene.

George’s health has improved but his feeding tube, which he has had since birth, was only removed after his sixth birthday.

Children’s charity Action Medical Research and self-funded not-for-profit, LifeArc, are funding research into gene therapy for babies with lung surfactant deficiency caused by faults in the ABCA3 gene.

George’s mum Rame said: “When George was born we were told to prepare for the worst and started planning for this. To hear that your son is not ‘compatible with life’ is every parent’s worst nightmare.

"We had George christened whilst he was hooked up to a ventilator, but fortunately, he started to improve and was weaned down on to oxygen.

"George is six now and is full of energy, life, has an infectious smile and is a total chatterbox. He had his feeding tube taken out earlier this year and is on high calorie oral supplements as he uses more energy than he takes in. This is the first time he’s been tube free since birth. I sobbed for hours as this was a huge moment for the whole family.”

Lung surfactant is a complex mixture of fats and proteins that lines the lung tissue and makes breathing easy. Without normal surfactant, the lungs can collapse, leading to life-threatening breathing difficulties.

Professor Deborah Gill, University of Oxford, said: “Our aim is to develop a new gene therapy for babies with severe breathing problems caused by faults in the ABCA3 gene by using a harmless virus to deliver a working copy of the ABCA3 gene into the baby’s lung cells. By enabling babies to make normal lung surfactant, this treatment should help them to breathe without mechanical ventilation.”

George’s health has improved and his parents have had to become ‘experts’ in understanding lung surfactant deficiency. George attends mainstream school and is coping well despite having regular hospital appointments, physiotherapy, and visits from the community nurse.

Rame is supporting Action Medical Research’s Christmas appeal to raise £100,000 to support research that aims to develop a vital new gene therapy treatment for lung surfactant deficiency.

She added: “Although George isn’t hooked up to oxygen every day anymore, planning in life is still a huge challenge when you’re living with a rare condition like ABCA3. We can’t just pack our bags and go on holiday. We still need oxygen to fly and that comes with its own challenges. George’s older sister Holly copes really well. We rely on her for help sometimes, but she is always smiling. "Life is challenging but we cope as we have no choice but to get on with it.”

For more about Action Medical Research’s Christmas Appeal, visit: www.action.org.uk/george