Callum is five years old and has an extremely rare condition called Nicolaides-Baraitser syndrome (NCBRS). The illness is characterised by mental retardation and absent or limited speech. He’s the youngest of just 33 people in the world with NCBRS, all of whom share similar physical attributes – a large mouth, a long and broad nose, progressive skin wrinkling, sparse hair, and short fingers and toes.
Callum lives with his dad Lee, mum Michelle, older brother Josh, and younger sister Kyra. While the diagnosis came as a shock, Lee’s dad remembers there were clues something wasn’t quite right during the pregnancy.
‘Michelle had more prenatal scans than you’d normally have. They also tested for Down’s syndrome but everything came back clear.’ Then, when Callum was born, his mum and dad knew straight away that he was different. ‘He had big, bold, blue eyes, had unusual facial features, such as enlarged nostrils, a wide mouth and a narrow face, and was really skinny.’
Specialists started to carry out tests for a range of genetic conditions but they all came back negative. After finally being referred to geneticists at Great Ormond Street Hospital, the diagnosis of NCBRS was confirmed.
Straight away the couple began to search for information on the internet but soon realised that, due to the rarity of NCBRS, there was very little to be found. So together with another family affected by NCBRS, Lee and Michelle created a Wikipedia page about the condition and a social networking group on Facebook. As a result of both of these, increasing numbers of affected people and their families began to get in touch with each other, widening the NCBRS community and making it clear that a formal support group would be beneficial.
‘2010 was the first time we held a meeting, and six affected people and their families turned up from the Netherlands, Italy, Ireland and the UK,’ says Lee. ‘It was amazing to see all of these children who looked just like Callum, all in one place. It was so moving.’
The annual meetings give families the opportunity to meet up with each other, and to hear presentations from doctors and ask them questions about health and management of the condition.
Three years after his diagnosis, Callum is thriving. He’s a big fan of motorbikes, buses, football and swimming. ‘He also loves to drive his brother and sister mad but then he smiles his amazing smile and the sun shines!’ says Michelle.