Sophie's story- 22q11.2 deletion syndrome - Jeans for Genes

Sophie's story

22q11.2 deletion syndrome (di George syndrome).

For most girls aged 12 a playdate with a friend is a regular after-school event. But for Sophie it is something much more special. Sophie, 12, had her first ever playdate this year with her good friend from school.

Parents Caroline, 47, and Simon, 49, share their daughter’s joy because this was a milestone they feared their bubbly, sociable daughter would never reach. Remarkably Sophie has endured over 50 operations in her young life because she has a genetic disorder.

“It’s the most ordinary thing in the world but because Sophie has been so ill, a playdate is something we’d never thought she’d manage. We thought we were going to lose her so many times. Something as run of the mill as a having her friend round for tea is a fantastic achievement, something to celebrate.” Mum, Caroline aged 47.

Sophie’s operations started when she was just one month old.

The Diagnosis

When Sophie was born she was rushed to St Thomas’s in London because she couldn’t breathe without intubation – a plastic pipe fed into her windpipe to open her airways.

“Sophie had her first heart operation at one month, her second at two months and her third at three months. It was after her third operation that she was diagnosed.”

Still anxious about Sophie’s recovery from a third surgery on her aorta, the family were told Sophie had the genetic disorder 22q11.2 deletion syndrome (also known as di George syndrome).

22q11.2 deletion syndrome

The condition results from a missing piece of chromosome and causes heart defects, learning difficulties, cleft palates and many more health issues. Although 22q is little known it affects one in 2,000 births.

Life with Sophie

The impact on the family including Sophie’s siblings Ryan, now 24, and Abbi, now 21, was enormous.

“We were living on the edge, we didn’t know if Sophie was going to live or die at that point. We were six weeks in the neonatal intensive care unit because of her heart anomaly. She was home for about four days then had to be rushed up to Guys Hospital’s because she couldn’t breathe. Every day we didn’t know what was happening. We were lost.” Dad, Simon aged 49.

“We brought the other two children up to Guy’s because we wanted them to spend time with their sister in case anything happened to her. We were living in Ronald McDonald house in a tiny room for three months. We just coped.”

Sophie battled through those early months but a lifetime of operations followed.

When Sophie was aged one, she contracted pneumonia and her lungs collapsed. She was wired up to a heart monitor at Great Ormond Street Hospital. She had surgery at three because her spine was misshapen and pressing on her lungs. That was the first of 18 back operations. For nine years she had to wear a fibre glass brace.

“We knew at some point Sophie might need an emergency tracheostomy (a plastic tube inserted into her windpipe to help her breathe) so surgeons put one in two weeks before a spinal op so she would have time to get used to it.

“She was nasal tube fed for a while. She had to have a gastrostomy (a surgical feeding tube inserted into her stomach) at one point. Eating was a big issue. She had swallowing issues and sensory issues.”

Simon adds: “She didn’t walk or talk until she was three. Now, she’s a bit hard to understand, but she can’t stop talking!”

Because Sophie has spent so much time in hospital she has become a bit of a celebrity on the wards where she stays during treatment and recovery.

Simon says: “She hasn’t got used to it but she knows the routine. She knows Daddy will bring her a magazine when she comes round. I must own half of WH Smiths by now. She’s grown up with operations. She knows when she’s going into theatre.

“Many of the staff have known Sophie since she was six weeks old. They volunteer for her surgeries. It puts Sophie at ease and us at ease. We can phone them if we are worried about things at home and they know we can deal with the issue without having to bring to her in to the ward.”

So now that she’s had a friend to her house for a playdate what else is on Sophie’s to do list?

“I want to go swimming,” she says.

Simon explains if doctors remove the tracheostomy this year that will become possible for the first time in Sophie’s life.

He says: “We don’t know the prognosis for her, we don’t know if something will suddenly make her ill but she has amazed everyone with her bravery.

Caroline adds: “There’s a high incidence of psychosis with this condition that can appear at any time. Thankfully we haven’t got that.

“We think positively about the future. We manage her symptoms and her meds, which she takes four times a day. Hopefully when the trachy is gone she can achieve more.

Simon adds: “As Sophie gets older I think ‘She should be walking to school by herself’. We joke about her driving but she’s never going to do that.

“People take so many things for granted, getting up, getting dressed, going to work. Every minute is precious for us. It sounds so corny but it’s true.”