17 August 2015
Rare “Wilson’s Disease” Leaves Teenager in Wheelchair
A teenager has been left wheelchair-bound after his GP practice failed six times to diagnose a rare life-threatening liver disease known as ‘Wilson’s Disease.’ His symptoms were repeatedly dismissed as being caused by teenage hormones.
Wilson’s disease, also known as hepatolenticular degeneration, is an extremely rare condition affecting approximately one person in 30,000 worldwide. Wilson’s disease is a disorder that causes a higher than normal amount of copper to accumulate in the body. The condition occurs due to a genetic defect that prevents the liver from being able to metabolise and remove excess copper from the body. An overload of copper is poisonous and can cause devastating damage to the liver, brain and other organs.
Sam Fitzgerald, 15, suffered bouts of anger and developed an increasingly short temper. His mother noticed that something was not quite right and contacted his school to see whether he was being bullied. He was not. Sam then developed pains in his hands. Blood tests were carried out but nothing showed up to explain his personality change and other symptoms.
When Sam’s hands then began to curl up and his speech became slurred, doctors dismissed this as ‘a stage.’ Sam’s condition deteriorated further when he returned from school one day and informed his mother that he couldn’t walk properly. When Sam’s mother took his shoes off, his toes were curled up and despite attempts to straighten them out, as soon as he began walking they would simply curl back up again. X-rays were performed to see whether Sam had broken his toes but the X-rays failed to show anything.
Due to his mother’s persistence, Sam was referred to hospital where he was diagnosed with the extremely rare Wilson’s disease. Unfortunately, in Sam’s case, the copper had accumulated in the basal ganglia in his brain, which controls fine motor movement and so his hands, feet, speech and ability to swallow are affected. Sam can no longer move his legs so is sadly now restricted to a wheelchair.
Symptoms of Wilson’s disease usually appear between the ages of six and 40, most commonly in late adolescence or teens. Symptoms can range from jaundice to acute liver failure, disabling physical symptoms, problems with language and speech, and psychiatric symptoms.
It is not clear whether earlier diagnosis in this case would have made a difference to Sam’s outcome, however, the British Liver Trust report that with early detection and successful treatment, a healthy lifestyle can be enjoyed. Sadly, if Wilson’s disease is not treated, it can be fatal.
It is clear that, going forward, Sam is going to need treatment, care and aids, and equipment to help him to live as full a life as possible and to cope with this disease. Should Sam’s family wish to pursue a GP negligence civil action they would need to prove that no responsible GP would have failed to refer Sam to hospital for further investigations in light of his symptoms. They would also need to show that, had Wilson’s disease been diagnosed earlier, it would have made a difference to Sam’s outcome, and that his condition would now be less severe, or alternatively, cured.
If you feel your doctor was negligent in dealing with you, call our Medical Negligence Solicitors for a free consultation on freephone 0800 916 9049 or start your claim online and we will call you.