Niamh Stirling is like any 15-year-old Irish girl, bubbly and enthusiastic, petite and pretty as a picture, large dark eyes and generous smile lighting up when she walks into the room. Her bedroom, like most teenagers’, has scattered posters of her favorite pop stars such as One Direction and Union J, her iPad and iPhone are never far from hand, and she is a football season ticket holder.
But Niamh Stirling is not like any other 15-year-old. For one thing, the morning of my first meeting with her, she failed to show. As dawn broke, her mother, Imogen, a qualified psychiatric nurse and psychoanalyst originally from Newry, Co Down, had hurriedly driven her to the hospital with fears that the muscles working her heart were erratic and that the pain that had kept her awake all night were warning signs of a possible heart attack.
For another thing, Niamh Stirling is a girl in a million. Precisely, she is a girl in 50,000,000, one of only 148 recorded people worldwide with Dubowitz syndrome, the only known case on the island of Ireland.
Niamh is the only child of Imogen and Ken, also a psychiatric nurse from Ballymoney, Co Antrim. And both parents carry the rare rogue gene. So rare is this gene that their chances of meeting are almost incalculable.
Dubowitz syndrome is a rare mutation in an inherited gene, characterized by neurodevelopmental disorder, short stature, and eczema. Sufferers are extremely prone to infections and have to undergo numerous surgical procedures.
To date, Niamh has had 20 trips to the theater. She also requires occupational therapy and physiotherapy on an ongoing basis, neither of which is available to her locally due to cutbacks.
The muscles in our bodies are arranged in a particular pattern: in Niamh Stirling, her muscles are in a different pattern and her particular case of Dubowitz, which in many can cover a broad spectrum, is primarily gastrointestinal, immunological and neurological.
She is a [Dublin Childrens’ hospital] Crumlin ‘peg’ baby, with a permanent tube in her tummy which feeds her food and her daily cocktail of 20 different medications.