It took three years for the Torrance family to discover that their son Dylan, now 12, had Partial Triplication 15 – a mutation of his 15th chromosome. The condition is so rare that it affects only 19 people globally, and Dylan is the only person with this specific defect.
His mother, Janie Torrance, expressed relief at finally receiving a diagnosis: “It was doing my head in that no one knew what it was.” The condition has no name; the diagnosis is a straightforward description of the chromosomal abnormality. “The first thing you try and do is find someone else with it – and to be told there was no-one was quite a blow,” she added.
Dylan is unable to speak, has severe epilepsy, and uses a wheelchair. Despite a normal pregnancy, he was floppy and uninterested as a baby. Janie says persistence was key to obtaining a genetic test, which confirmed the disease when he was three. “I’m positive about life. I look at Dylan and think ‘how can I moan about my situation’ when my son goes through this every day?” she said.
Rare Disease Day, observed on 29 February, aims to raise awareness for the 60 million people worldwide affected by 6,000 rare diseases. Nick Meade from Rare Disease UK explained that these illnesses affect fewer than one in 2,000 people, including conditions like cystic fibrosis and haemophilia. The low patient numbers hinder treatment development, often leaving palliative care as the only option.
For the Naee family, a viral infection led to a devastating diagnosis. Five-year-old Husna was taken to hospital in 2008 and emerged 10 days later in a wheelchair. She was diagnosed with Friedreich's Ataxia, a life-limiting condition causing progressive damage to the nervous system and heart. Her mother, Rahna Nabi, said: “There is nothing worse than being told that your child will die slowly before your eyes.”
