Tuesday 2 August 2022 01:51 AM For 25 years Luke needed jabs to stop bleeding. Now he's been liberated by a ... trends now

Tuesday 2 August 2022 01:51 AM For 25 years Luke needed jabs to stop bleeding. Now he's been liberated by a ... trends now
Tuesday 2 August 2022 01:51 AM For 25 years Luke needed jabs to stop bleeding. Now he's been liberated by a ... trends now

Tuesday 2 August 2022 01:51 AM For 25 years Luke needed jabs to stop bleeding. Now he's been liberated by a ... trends now

When Luke Pembroke was diagnosed with the bleeding disorder haemophilia at 11 months old, doctors offered his mother Debra a glimmer of hope — one day, thanks to gene therapy, there might be a cure for the inherited disorder, which made every bump and fall potentially lethal for her precious son.

It was a bold prediction in the early 1990s, when the science of gene therapy — the replacement of faulty genes with healthy ones to correct incurable genetic conditions — was in its infancy.

But fast forward nearly three decades and the prediction is coming true, bringing hope to thousands living with haemophilia in the UK. 

According to charity The Haemophilia Society, at least 16 types of gene therapy for the disorder are in development. Some are already in clinical trials and could be available on the NHS in the next two to three years.

While they vary in approach, the aim of each is the same: to correct defective genes — turn off faulty genes involved in causing the illness, or switch on dormant ones that can correct it.

‘I’m very excited by gene therapy — it is a genuine advance,’ says Dr Gavin Ling, a consultant haematologist at St Thomas’ Hospital in London, who has a specialist interest in bleeding disorders. 

Luke was just a baby when his mother noticed he was covered in bruises. When she took him to A&E after finding a large bruise on his head, she was initially greeted with suspicion by doctors who feared she was abusing her baby. Last year, Luke, now 28, fulfilled a dream trip to the Amazon jungle in Peru (above) to work on a conservation project ¿ something that previously would have been impossible

Luke was just a baby when his mother noticed he was covered in bruises. When she took him to A&E after finding a large bruise on his head, she was initially greeted with suspicion by doctors who feared she was abusing her baby. Last year, Luke, now 28, fulfilled a dream trip to the Amazon jungle in Peru (above) to work on a conservation project — something that previously would have been impossible

‘It won’t provide a complete cure for everyone but if it works, patients will, for the first time, be able to live much more normal lives.’

Haemophilia is a genetic disorder that affects more than 8,500 people in the UK. It is due to one of the body’s clotting factors — proteins that help to form blood clots in the event of injury — being missing from birth.

Those affected are missing either factor VIII (which causes haemophilia A, the cause of 85 per cent of cases) or factor IX (which is responsible for haemophilia B, the other 15 per cent of cases).

The gene responsible for making these proteins is on the X chromosome — when it’s damaged men only have one copy of this (women have two), hence mainly men are affected, although women who are carriers of the faulty gene can develop mild haemophilia. Those affected are under constant threat of uncontrollable bleeding, not just from cuts and grazes but from significant internal blood loss from falls or blows to the body.

Contact sports, such as rugby, are out of the question and even painkillers such as aspirin and ibuprofen are risky because they can inhibit clotting even more. The only therapy to date has been regular injections of man-made versions of the missing clotting factors — in some cases every 48 hours.

Luke was just a baby when his mother noticed he was covered in bruises. When she took him to A&E after finding a large bruise on his head, she was initially greeted with suspicion by doctors who feared she was abusing her baby. 

‘Sadly, this is quite a common story in the haemophilia community,’ says Luke, now 28 and creative director at a research consultancy in London. ‘Children with haemophilia have serious bruising and sometimes internal bleeding no one can account for.’

But within hours, a blood test confirmed Luke had haemophilia and further tests revealed he had type B — the most severe form.

Luke says: ‘Mum tells me she remembers sliding down the wall in tears, not knowing what she was going to do next.’

Debra had to come to terms with helping her young child cope with this life-changing illness. That meant learning to inject him — up to three times a week — with clotting factor, through a needle inserted into a vein.

It was traumatic for them both. Luke became so scared of needles, his mother would often have to pin him down to get the factor into him. A family video even shows him howling with fear as his mum tried to pin a birthday badge on him when he turned two. Even with these regular injections, Luke’s condition was so severe he still suffered frequent internal bleeding that left

read more from dailymail.....

NEXT Health service initiative offers patients a chance to see a GP on the same day ... trends now