A Maltese mother, whose daughter suffers from cystic fibrosis, is elated after she learnt that the largest gene therapy trial for this life-threatening disease has started in the UK.
“When my mum called me at work and broke the news, I just cried for three hours. I was shaking and my skin turned to goose flesh – I had been waiting 11 years for this news,” Josette Falzon said, her eyes still welling up two weeks later.
When Ms Falzon’s daughter Franny was born in August 2000 and diagnosed with CF an agonising three months later, she exorcised her fears by running to raise funds for the British Cystic Fibrosis Trust, and support its research to find a cure.
31 years
average life expectancy of CF patients
Eleven years later they may not have found a cure, but these trials – a first worldwide – promise to drastically improve patients’ quality of life and more importantly provide them with normal life expectancy.
CF, an inherited disease which occurs in one child in every 4,000 to 6,000 born in Malta, is cruel because the average life expectancy of patients is around 31 years. There is currently no cure and the only available treatments rely on alleviating symptoms.
The condition causes the body to produce thick, sticky mucus to build up in the lungs and obstructs the pancreas, preventing digestive enzymes from reaching the intestines to help break down and absorb food.
The fears of Ms Falzon and her ex-husband David are that they will outlive their lively daughter, but these latest developments have given them hope. “A representative of the trust told me, ‘this is just a start Jos, but you can go and celebrate’,” Ms Falzon said.
The researchers in the UK CysticFibrosis Gene Therapy Consortium havedeveloped a successful method fordelivering a working copy of thedefective gene directly into the lungs of patients.
The trials, which will assess if giving gene therapy repeatedly for a year will improve patients’ lungs, are going ahead thanks to £3 million raised in funding.
Ms Falzon feels fulfilled to have raised €140,000 since 2005 towards this research through running – which is an “agonising” sacrifice – and charity dinners (she is top fundraiser for CF Trust in the UK).
“Raising funds has kept me going. I couldn’t have achieved this without the help of family and friends. I’m proud the Maltese have contributed towards this breakthrough in treatment.”
Mr Falzon greeted the news with cautious optimism, even though the two share a bit of anxiety as they await the outcome of these trials, expected within two years.
“Now it’s basically a waiting game... Fund-raising has to continue for further research into a cure, but this breakthrough will keep me hopeful,” Ms Falzon said, as she handed two pills to Franny who was about to tuck into an apple pie.
Before consuming any food, Franny has to take Creon digestive tablets that will help her body break down the fats – she can take up to 20 at a time, depending on how fatty the food is.
Listening in on the conversation, Franny quipped with a mischievous smile: “The pills are a part of my life. If people want to get to know me they have to get to know my pills.”
Although Franny looks healthy, she has to undergo chest physical therapy to clear the mucus every morning and take adaily dose of antibiotics to keep infections at bay.
Next month she will also have to undergo intravenous treatment because routine check-ups have shown her lung function levels are down.
The latest medical developments have boosted Franny’s boisterous spirit, but the 11-year-old is eager for answers to her questions now: “How long will I live now? And will I still need to be taking all these pills?”
Those who wish to help Ms Falzon in her fund-raising campaigns can access this link: http://uk.virginmoneygiving.com/team/CFMalta