Patient story: "I call it my Christmas miracle"
If you were introduced to Darren Lapicki, you probably wouldn’t realise that you’re meeting a miracle of modern science. But that’s what he is.
Born with a severe case of haemophilia A, Darren became the first success story in an incredible clinical trial which effectively ‘cured’ him.
Haemophilia A is a hereditary condition where lack of a single gene means the body does not produce a protein which helps blood to clot. Haemophiliacs (those who suffer from haemophilia) risk excessive bleeding from even tiny injuries and knocks and bumps can cause internal bleeding. Not only is this potentially life-threatening, but internal bleeding can also lead to damage and arthritis in the joints.
Being a genetic condition, Darren has traced his family tree to discover he is the sixth generation in his family to suffer the condition. His Uncle was also affected and sadly died from a related illness.
Darren remembers his condition being explained to him as a child, where he imagined tiny dominos toppling but one being missing. That ‘missing domino’ is the “factor VIII” gene responsible for haemophilia A.
As an active boy, Darren’s mum refused to wrap him up in cotton wool, but he needed to take special care. He recalls being delivered to school in a pram when he was 8, because a bump and bleed in his ankle made walking there impossible. For Darren, a game of football was fraught with danger and he would regularly end up hopping to lessons or sitting on the bench.
Growing older, work too, was difficult. Darren harbored dreams of joining the armed forces, but his condition made it impossible. Plans to join the police force were also scuppered.
The day to day practicalities of managing his haemophilia were also complex. Cupboards and fridges would be dedicated to storing the tourniquets, needles, bins and medication needed to administer injections and control his condition.
In 2015, Darren enrolled as a participant in a Clinical trial. He had always been an avid follower of research into his condition, but the trial, running at Barts Health NHS Trust (Barts), was the first his consultant felt could be right for him.
Darren tells us: “I was very keen to sign up. I’d read lots about the different research going on and was interested to learn about possible new treatments. My consultant, Professor John Pasi, is involved in a lot of clinical research but had said I wasn’t suitable for several of the trials I’d read about.
When he said I was eligible for the BMN270 trial, I jumped at the chance.” The trial was running across England and aimed to test the effectiveness of a new therapy. Patients were injected with a copy of the missing gene, which they hoped would allow cells to produce the missing clotting factor.
After pre-trial tests, Darren was given a single infusion of the drug therapy. The results exceeded all expectations.
“Within a few days, my levels had already increased”, says Darren. “I started noticing that minor knocks were not bruising like they used to.
“Just a week after treatment, I was at work when a child accidently rammed me with a shopping trolley. I thought ‘oh no, that’s really going to be bad’ and I was all prepared for a bad ankle bleed. But instead of needing 4 days of bed rest it heeled within 24 hours, I couldn’t believe it” he said. “The treatment had happened on the 21 December and the incident was just after Christmas. I called it my Christmas miracle!”
Darren’s factor VIII levels continued to rise and a month later, his readings were 90% normal. Both Professor Pasi and his patients were amazed. The treatment’s success surpassed their expectations.
In 2017 Professor Pasi and the team at Barts and Queen Mary University of London, announced that 85 per cent of those treated with the gene infusion were showing normal or near-normal levels of the blood-clotting protein, one year after the trial began. The results had particular significance for Darren, and for sufferers around the globe. The trial was the first successful gene therapy trial for the treatment of haemophilia A.
“The treatment has changed my life considerably” says Darren.
“I already had damage and arthritis in some of my joints and it was such a relief to know it wouldn’t continue to get worse. It’s great not having to inject anymore.
“I’d always tried to lead as normal a life as I could but it’s brilliant not having to worry all the time whether I might bump or scratch myself. There’s no more need to panic.”
More recently, Professor Pasi confirmed that three years after treatment, all trial patients continued to benefit from a substantial fall in bleeding rates and continued to express Factor VIII at good levels, although lower than at their peaks levels. None of the 13 patients had required further regular medication.
Both the trial and Darren are shining exemplars of what clinical research can do. Darren is keen to share his story and encourage people to get involved.
He says: “Think of the people who did the research years ago, to help discover the drugs we use now. If not for pioneers in the 1960s I wouldn’t have had hope of an anywhere near normal life. I want the younger generations to live an even better life than me. Taking part in research now is my way of returning the favour.”