A THREE-YEAR-OLD boy with a genetic disorder so rare only a handful of people are diagnosed with it worldwide is helping to raise awareness for a charity fundraising day.

Charlie Stanbury from Poole has a heart murmur, asymmetric limbs and dysmorphic features, as well as behavioural challenges due to a chromosome disorder called 17p 13.3p 13.2 duplication. The condition is rarer than one in 1,000,000 and health professionals cannot tell Charlie’s mother, Ruth, and her family how the condition will present itself as he gets older.

“When my husband Robert and I first got the diagnosis we were understandably devastated as you don’t want anything to be wrong with your children, you just want them to have a normal, happy life.

“My major concern was how Charlie would be accepted by society at large. Would he become an outcast? No one wants that for their child.”

Ruth was advised not to have any more children when Charlie was diagnosed but was already pregnant with her second child Poppy. Fortunately, neither she nor her husband Robert were carriers, so their daughter is fine.

Ruth said: “It was an incredibly worrying time for us though and I am still very vigilant of Poppy, but she is meeting all her developmental milestones just fine."

Charlie’s additional symptoms include a squint in both eyes, glue ear, enlarged kidneys and gigantism, which means he is currently the size of an average five-year-old. He also has very low muscle tone, which was how his problems were first picked up as he was not meeting any of the major developmental milestones, such as sitting up and babbling. While Charlie does walk now, his low muscle tone means he gets tired very easily.

“Being tired doesn’t help with Charlie’s behaviour issues either,” Ruth continued. “At the moment we’ve had no official diagnosis for his behaviour but it’s in the pipeline. Personally, I think it all stems from his frustration with not being able to communicate. Charlie’s speech has been very delayed.

“Even though Charlie struggles to express himself, he is such a fun and lively child; his smiles light up my life,” she added.

Since Charlie’s diagnosis, the Stanbury family have received support from Unique, the rare chromosome disorder support group. Children’s charity Genetic Disorders UK is holding a fundraising day, Jeans for Genes Day on September 18 and all the money raised will go towards Unique’s family days.

For more information, visit jeansforgenesday.org.