IT is a condition which affects one in 4,000 newborns, yet di George syndrome remains largely unheard of – but one mother is now aiming to change that.
The condition is a severe genetic disorder which can result in heart defects, learning difficulties and kidney problems to name a few, and has left Rebecca Bird’s two sons, Connor and Rayden, requiring constant care.
Rebecca and husband Michael, of Nelson Street, Swadlincote, fought for five years to have oldest son Connor diagnosed as having the condition – finally making the breakthrough after the mother herself suggested it to the experts after conducting some of her own research, having grown frustrated at the lack of answers from the professionals.
And on July 1 she is calling for everyone who knows about the illness to tell just one person about it.
Rebecca is desperate to do whatever she can to spread awareness of the condition which would have most people scratching their heads and turning to Google to find out more.
That is of course unless, like the Birds, it has had a direct impact on your life.
Rebecca said: “It was my idea. There is a support group for families called Max Appeal, which is great but is pretty much the only group there is.
“I just want someone to tell one person and then at least one more person knows.”
The difficulty with di George is that it can affect its victims in different ways.
Five-year-old Connor’s development has been severely hampered, so that he has the mental age of a child three years his junior.
He also requires the support of a walker to get around, his vision is impaired and his immune system is dangerously low, meaning he cannot be around children with coughs and colds and hospital trips are common.
But for his brother Rayden, who is approaching his second birthday, his mental development has been largely unaffected, but he has to be fed through a tube as he cannot swallow, is sick many times during an average day, while the condition has also stunted his growth.
Part of the reason for Rebecca being so desperate to spread the message is that she does not want any other families to have to go through what they did when battling to have Connor diagnosed.
Rebecca said: “He was poorly all the time and not developing as quickly as he should have been. That was the first time we thought something was not right.”
It was only when Rayden came along that the couple finally made progress - when the experts finally confirmed it was di George as Rebecca had suspected.
“When Rayden was born, we knew he had issues with his kidneys and he had to be tube fed. Both our children were poorly,” she said.
“It came into my head last year that it could be di George syndrome, I had looked it up online.
“I said to them ‘have you heard of this condition?’ but they ruled it out because Connor didn’t have a heart condition.
“But it is a misconception that a child has to have a heart condition for it to be di George - it is only about 70 per cent of cases.”
After many trials and tribulations, the couple have now been able to plan ahead, knowing for sure what they are dealing with.
Rebecca said: “Connor will need constant care, but we are hopeful Rayden will be able to go to a mainstream school. They are both extremely happy. They live in a world where everyone is beautiful. They are blissfully unaware of what they are going through.
“We just get on with it. I know it sounds like a cliché but we wouldn’t have them any other way.”
But the painful experience of the past five years has left Rebecca feeling much more needs to be done.
She said: “Specialists need to be aware of the symptoms. I just wish they would have listened to me.
“We wouldn’t have had all that stress. It is really hard to go through that.”
And on July 1, she is calling on anyone who can to do what they can to help.
“Tell someone. Log on to Facebook, share the event. Spread the word.
“Someone needs to have a voice.”