Dominic Blower, who lives with his family near to London, in St Albans, had undergone several major operations. By the age of 5, he had already spent more than half of his life in hospital. Muscle biopsies had caused long snaking scars on his legs. His lungs were left as fragile as tissue paper due to severe bouts of pneumonia.
The Blower family’s crisis began five weeks after Dominic’s birth in 2006. He struggled to breast-feed, drowning in milk and resulted to weigh loss.
During one incident, his mother, Renata was told to prepare for the worst. It was the time he developed acute respiratory distress syndrome, which stiffens the lungs, preventing them from working.
Renata, 39, a former National Health Service liaison officer screamed when she was told Dominic’s chances of surviving were very small.
Today, Dominic, who is now 8, although stable, is unable to walk, relies on feeding and draining tubes in his abdomen, has osteoporosis and is given painful growth injections every night. A full-time care is necessary.
Doctors believe he has a genetic condition that causes a complex and unpredictable array of problems but they are as yet unable to determine its precise nature. This undiagnosed genetic condition is categorized as SWAN (Syndromes without a name).
The best that doctors could tell her was that a genetic condition is so rare. There is no diagnosis, and no prognosis.
And because the condition is believed to be genetic, the probability that Dominic’s siblings are also affected is high.
Renata realized how isolated she had become. There is little support for families such as the Blowers.
Renata used to spend hours online desperately hoping she would find someone else who had seen Dominic’s condition.
In 2011, Renata came across a website called SWAN UK. She made contact, and began working to raise awareness of undiagnosed children.
First in her wishlist was a specialist nurse who could act as an advocate for parents as well as ensuring undiagnosed children get a care pathway.
The existence of first specialist nurse in the UK will be based at Great Ormond Street Hospital made her wish come true.
She has no illusion that the future will be anything other than challenging, but at least now there is hope.