A rare genetic condition affecting only 19 people globally has been diagnosed in a 12-year-old boy from the UK. Dylan Torrance has Partial Triplication 15, a mutation of his 15th chromosome, and is the only person with this specific defect.
His mother, Janie Torrance, spent three years seeking a diagnosis. 'It was doing my head in that no one knew what it was,' she said. The condition is so rare it has no name, only a description of the chromosomal abnormality.
Dylan cannot speak, has severe epilepsy, and uses a wheelchair. Despite a normal pregnancy, he was floppy and uninterested as a baby. A genetic test confirmed the condition when he was three.
There is currently no cure, but Janie remains hopeful. 'I look at Dylan and think how can I moan about my situation when my son goes through this every day?' she said. The family strives for normality, with Janie working part-time and ensuring older son Callum, 14, does not miss out.
Rare Disease Day, marked on 29 February, raises awareness for the 60 million people worldwide affected by 6,000 rare diseases. Nick Meade from Rare Disease UK noted that low patient numbers hinder research, and diagnosis can take up to 20 years.
Another family shared their story: Husna Naee, now 16, was diagnosed with Friedreich's Ataxia at age five. The progressive disease damages the nervous system and heart, and she has lost mobility, eyesight, and hearing. Her mother Rahna described it as 'a dark grey cloud coming over your head and it's not shifting.'
