Lee and Michelle live with sons Josh (7), Callum (5) and daughter Kyra (2).
Callum is like any other five-year-old boy – mad about motorbikes and buses, keen on swimming and loves nothing more than winding his brother and sister up! But he’s also unique – he’s believed to be the youngest of only 33 people diagnosed worldwide who have a rare genetic condition called Nicolaides Baraitser Syndrome (NBS).
“When we were expecting Callum, we had no idea how it was going to change our lives,” says dad Lee. “There were some indications that something was wrong – Michelle had more prenatal scans than you’d normally have. They also tested for Down’s Syndrome but everything came back clear.” But when Callum was born, the couple knew straight away that he was different. “He had big, bold, blue eyes, had unusual facial features, like enlarged nostrils, a wide mouth and a narrow face, and was really skinny,” says Lee and Michelle.
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 Nicolaides-Baraitser Syndrome was confirmed. A condition that is believed to affect 33 people worldwide and is characterized by mental retardation, absent or limited speech, large mouth, long and broad nose, progressive skin wrinkling, sparse hair, and short fingers and toes.
Straight away the couple began to search for information on the internet but soon realised that, due to the rarity of NBS, there was very little to be found. “We found that when we were looking for information, there was hardly anything on the internet,” says Lee. “A diagnosis of a genetic condition is such a shock and is really isolating, and this is so much worse when there’s very little information out there and no way of getting in contact with others in the same situation.”
Together with another family affected by NBS Lee and Michelle created a Nicolaides-Baraitser Syndrome Wikipedia page 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 NBS community and making it clear that a formal support group would be beneficial.
“Last year, 2010, was the first time we held a meeting and 6 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 and is 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.
Now Lee has been given a Jeans for Genes grant to set up the NBS support group, formalising the work started with the Wikipedia and Facebook pages. “The grant from Jeans for Genes has been an enormous boost and it’s helping us to go from being just a few people with kids affected by NBS to starting an official support group,” says Lee. “It makes me feel very proud and emotional.”