Emma Gaul’s story is a good reminder of how quickly life’s plans can change when your body turns against itself.
Less than two years ago she was a vibrant and active teenager with big dreams—she’d just played the lead role in her school’s musical production of Oliver, and had her eyes set on attending drama school.
What she got, though, was a real-life drama that took Emma and her family completely by surprise.
The first signs of trouble for the Northern Ireland native came shortly after she had braces put on her teeth. Emma’s mother noticed that she was having difficulty talking and eating; she had the braces removed, but Emma’s symptoms continued to worsen, and she also began having foot spasms and difficulty walking. Within months, the outgoing, active teenager had become quiet and bedridden. Her rapid decline terrified her parents, and they were desperate to find answers.
After going through a series of tests, including a brain scan and blood tests, Emma’s doctors found an answer: Wilson’s disease, an extremely rare genetic disorder that prevents the liver from flushing copper out of the body. The excess copper accumulates in the brain, liver, and other organs, leading to complications like cirrhosis of the liver and cognitive decline. Left untreated, it can be fatal.
Though initially devastated, Emma and her parents were determined to fight her Wilson’s disease and tried to stay positive.
But Emma needed treatment urgently—her disease had progressed quickly, and she had already developed cirrhosis.
Fortunately, Emma’s aunt found out about a clinical trial for Wilson’s patients at Royal Surry County Hospital in England—one of two sites in the UK studying a new drug called bis-choline Tetrathiomolybdate (WTX101).
Since enrolling in the trial, Emma’s condition has taken a real turn for the better. She’s been able to reduce the number of drugs she is taking, and blood tests have shown that her liver is actually starting to repair itself.
Emma and her parents are staying positive, and while she still has a long road to recovery ahead of her, they are encouraged by her progress. With more time and healing, Emma may yet return to her dreams of acting. But already she’s landed the role of a lifetime…as a Survivor.
Are you over age 18, living in the UK, and want to participate in the Wilson’s disease trial? They’re still recruiting, so head over here to contact Professor Aftab Ala at the Royal Surrey County Hospital. You can also read more of Emma’s story… and hear her singing voice!