A talented drama student left bed bound and struggling to talk by a rare liver disease is being helped by researchers at Royal Surrey County Hospital.
Emma Gaul was forced to put her plans for drama school on hold when she was diagnosed with Wilson’s disease, a genetic disorder which causes a toxic overload of copper in the body.
The illness progressed rapidly and left the teenager with neurological difficulties and cirrhosis of the liver, which is more commonly associated with people who drink too much alcohol.
The teenager from Warrenpoint, Northern Ireland, is now the first patient taking part in a clinical trial at Royal Surrey County Hospital.
The Trust is one of two sites in the UK that has been chosen to trial the new drug, bis-chloline Tetrathiomolybdate (WTX101), with Professor Aftab Ala chosen as the principle investigator.
The initial results have been encouraging and after a successful peer review, they will be presented at the European Association for Study of Liver Disease in Barcelona later this month.
“The problem with Wilson’s disease is actually getting to the right specialists and here at Royal Surrey we are a centre of excellence,” said Professor Ala.
“Wilson’s is a very rare condition where sufferers have a higher than normal amount of copper in their body, which can damage their liver, brain and other organs.
“This excess of copper is caused by a genetic disorder that stops the liver from processing and removing the copper from the body.
“There are very few drugs available and those that are, can have side effects. They also have to be taken up to four times a day and this can be very onerous for the patient.
“Clinical trials, such as this one, help improve the access to new drugs.”
Two years ago Emma, now 19, was the star of her school production of Oliver, taking on the role of Nancy and was destined for a place at a top drama school.
But she was forced to change her plans after being diagnosed with the potentially life-threatening condition.
Her family first noticed that something was wrong when she had a brace fitted to her teeth at the end of 2014.
“She wasn’t doing very well with the brace, her speech was funny and she wasn’t really eating,” said her mother Geraldine Gaul.
“We asked for the brace to be taken out to see if that would help, but when they took it out she was still not very good.”
Emma then began to display signs of spasms in her feet, which made it incredibly difficult for her to walk.
“Things were just not right,” said Mrs Gaul, who along with her husband, Terry, cares for Emma.
“We went and saw her GP and they did every test they could, but they simply could not find anything wrong.”
It was only after that Emma was sent for a brain scan that doctors started to suspect that she had Wilson’s disease. It was later confirmed by a blood test.
“Within a matter of weeks Emma had gone from someone who was having difficulty walking and eating to someone hardly talking and unable to walk.”
“As a parent it was devastating to watch, especially because Emma was a performing arts student.
“When we were first given the diagnosis we had a little cry, but since then we have been very positive.”
Emma’s aunt discovered the pioneering research being done at Royal Surrey and her doctor in Northern Ireland referred the teenager to Professor Aftab Ala.
“We came over and met Professor Ala and his team and they have been absolutely fantastic.
“They know everything there is to know about Wilson’s and they explain it in simple terms, so that we can understand.”
Since Emma started the clinical trial the number of drugs she has to take has been reduced and her condition is improving.
“Her liver has actually started to repair itself and all the blood tests show that things are improving,” said Mrs Gaul.
“Throughout everything, Emma has always had a fantastic attitude.
“As a mother, it has been hard to see your daughter, who should be going out with her friends and doing things she loves, like this.
“We still have a long way to go, but thanks to Royal Surrey, Professor Ala and his team things are on the way up for Emma.”
Royal Surrey currently has 420 research studies open, involving more than 4,000 patients.
The 24-week Wilson’s disease trial is still recruiting and is open to any patient diagnosed with Wilson’s disease within the last year and aged 18 and over.