Belfast Telegraph

Drug trial giving hope to promising drama student struck down by rare disease

By Neil Hyde

A talented drama student from Northern Ireland is responding well to pioneering treatment after a rare liver disease put her career in jeopardy.

Emma Gaul (19) was on course for a place at a top drama school after wowing audiences in her school's production of Oliver, in which she played Nancy.

However, her dreams were put on hold after she was diagnosed with Wilson's disease, a genetic disorder that left her bed-bound.

The illness progressed rapidly, causing neurological difficulties and cirrhosis of the liver, which is more commonly associated with alcoholics.

Emma - a former pupil at St Mary's High in Newry who went on to college in Armagh - is now doing well under the watchful eye of consultant Professor Aftab Ala, who is treating her at the renowed Royal Surrey County Hospital in Guildford.

Emma, from Warrenpoint, is the first patient taking part in a clinical trial at the hospital, one of two sites testing a new drug called bis-chloline Tetrathiomolybdate, also known as WTX101.

Hospital spokeswoman Samantha Gibbons called the initial results encouraging.

And Professor Ala added: "The problem with Wilson's disease is getting to the right specialists, and here we are a centre of excellence.

"Wilson's is a rare condition where sufferers have a higher than normal amount of copper in their body, which can damage the liver, the 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 help to improve the access to new drugs."

Two years ago Emma was the star of her school production of Oliver, and was destined for a place at drama school.

However, she was forced to change her plans after being diagnosed with the life-threatening condition.

Her family noticed something was wrong when she had a brace fitted on her teeth in 2014.

"She wasn't doing very well with the brace," said Emma's mother Geraldine. "Her speech was funny and she wasn't really eating. We asked for the brace to be taken out to see if that would help, but she still wasn't 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 Geraldine, who along with her husband Terry, cares for Emma. "We saw her GP and they did every test they could, but they simply could not find anything wrong."

It was only after Emma was sent for a brain scan that doctors started to suspect she had Wilson's disease. A blood test confirmed their fears.

"Within weeks Emma went from someone who was having difficulty walking and eating to someone hardly talking and unable to walk," Geraldine said.

"It was devastating to watch, especially because Emma was a performing arts student. When we were 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 referred her to the team.

"We came over and met Professor Ala and his team and they have been fantastic," said Geraldine. "They know everything there is to know about Wilson's and they explain it in simple terms we can understand."

Since Emma started the clinical trial the number of drugs she has to take has been reduced and her condition has improved.

"Her liver has actually started to repair itself and all the blood tests show that things are improving," said her mum. "Throughout everything Emma has always had a fantastic attitude. As a mother it has been hard to see your daughter, who should be out with friends and doing things she loves, like this.

"We still have a long way to go, but thanks to Royal Surrey and Professor Ala and his team, things are on the up."

The Royal Surrey County Hospital currently has 420 research studies ongoing involving more than 4,000 patients.

The 24-week Wilson's disease trial is still recruiting and is open to any patient diagnosed with the disease within the last year who is 18 or over.

Belfast Telegraph


From Belfast Telegraph