Living with haemophilia: “It”s not a life sentence” says mother of three
With her three young boys dashing about the garden playing football and bouncing on the trampoline, Tracy Woodward seems like any other busy mother, keeping a watchful eye as she cooks a family meal.
But she is perhaps more attentive than others might be. For a simple knock or cut — the stuff of childhood for roustabout boys — requires immediate medical treatment.
Ten-year-old Ben, Joe, seven, and Dan, five, all suffer from severe haemophilia, the bleeding disorder caused by a lack of factor VIII, a blood-clotting agent. As a result, a graze — even a bruise, if severe — can be life-threatening.
Happy family: Tracy and Gary Woodward with their sons (from left) Dan, 5, Ben, 10 and Joe, 7 who all suffer from severe haemophilia
Yet the twist to this family’s story is that Ben was diagnosed with the condition when he was only one. Tracy and husband Gary then had the option of genetic testing and IVF, which could have prevented them having more children with the condition. But despite knowing the risk of passing on haemophilia was high, the couple refused.
A parent’s natural instinct is to protect their child against any suffering, and many might find the Woodwards’ choice unsettling. But it highlights the growing role of genetic testing. And many more of us might soon have to face similar choices.
Since the human genome was first mapped in 2003, scientists have been working to identify the specific genes linked to diseases and disorders. But while the emerging field of genetic testing has the potential to change all our lives, couples carrying faulty genes are among the first to feel its real impact.
“I lay awake all night clinging to Gary, mourning for the bright future our son would never have.”
Specialists argue genetic tests avoid the need for ‘reproductive roulette’ in families affected by genetic disorders. However, some ethicists warn such testing devalues human life and takes the focus away from finding cures.
These issues were far from the Woodwards’ minds when Ben was diagnosed with haemophilia. It came out of the blue for Tracy, 40, a bookkeeper in the family scaffolding business, and her husband Gary, 42, the company director, from Stoke Poges, Bucks. ‘Ben was a happy, healthy baby,’ Tracy says.
She adds: ‘His only problem had been that after his immunisations, he cried for the whole afternoon. The GP said it must have been a bad reaction, but I now know the jabs had caused bleeding into his muscles, and he must have been in agony.
‘Then one day when he was just one, he was in the kitchen in his baby-walker and cut his finger on the inside of the dishwasher. It started bleeding and it just wouldn’t stop. That was the start of it.’
Thinking he might need a tetanus jab, the couple took Ben to the GP. ‘But the cut wouldn’t stop bleeding after an hour so the GP sent us to hospital. The cut was small, but doctors couldn’t stop it bleeding, so Ben was admitted.’
Ben stayed in hospital for a week for tests — ‘he was like a cushion by the end of it because they kept trying, and failing, to take blood, but couldn’t find a decent vein,’ says his mother.
The diagnosis was a terrible shock.
Football fans: Dan, Joe and Ben all love to play in the back garden, but one knock or cut could cause serious problems and even be life threatening
‘The doctor said Ben had severe haemophilia, a lifetime of spontaneous bleeds, joint damage and that he would end up in a wheelchair when he was an adult because of the damage done through the bleeding,’ says Tracy. ‘I lay awake all night clinging to Gary, mourning for the bright future our son would never have.’
Ben was transferred to a hospital haemophilia centre, where he underwent a blood transfusion. It worked immediately, but thereafter Ben’s parents had to become experts at keeping their son alive.
“Doctors had told us we had a normal, healthy boy and should treat him as such, but every time he hurt himself we were sick with worry.”
They then found out Tracy was a carrier of the faulty haemophilia gene. ‘If we had more children, any boys we had would have a 50 per cent chance of having the gene and any girls would have a 50 per cent chance of being a carrier.
‘Once a boy is born with the haemophilia gene, they always go on to develop the condition. As we watched Ben suffering, Gary and I thought about the pain to come, and those odds strangled our plans for a large family.’
Ben had to go to their local hospital whenever he fell or cut himself to be monitored for internal bleeding — he was there almost weekly. ‘Doctors had told us we had a normal, healthy boy and should treat him as such, but every time he hurt himself we were sick with worry,’ says Tracy.
Then just before Ben’s second birthday, doctors suggested fitting him with a permanent catheter in his chest so Tracy could provide treatment at home. The operation took place at Great Ormond Street Hospital, Central London, and then the whole family’s attitude to Ben’s haemophilia changed.
‘We established a routine of regular treatment, with a small 5ml injection of a clotting factor every other day,’ says Tracy. ‘Although the haemophilia was still there, we felt we were in control of it, rather than it controlling our lives.’
It was then the couple started to plan to have more children. ‘When Ben was diagnosed we thought it was a life sentence but we realised this was not the case and it freed us to think about having more kids,’ says Tracy.
Decision: Tracy and Gary opted not to have screening as they felt it would be like saying they didn”t want to have another Ben
The hospital told Tracy she could have IVF sex selection to screen out male embryos.
Doctors in Britain are now licensed to ‘screen out’ more than 160 genetic conditions before an embryo is implanted. Conditions include haemophilia, muscular dystrophy, cystic fibrosis, breast cancer linked to the faulty BRCA1 and BRCA2 breast cancer genes, Alzheimer’s and the degenerative brain disorder Huntington’s.
Two to three days after the embryo has been created in the laboratory, a single cell is removed and checked for the specific rogue gene. Only embryos unaffected by the relevant gene are implanted during IVF into the woman’s womb.
“We’ve tried to teach the boys that life comes first and their condition comes second.”
Doctors say this technique, called Pre-Implantation Genetic Diagnosis (PGD), spares families the stress of having a severely disabled or sick child, or the trauma of choosing a late abortion. However, some campaigners point out that a number of conditions on the list — such as Down’s syndrome and breast cancer — don’t necessarily produce children so disabled or sick that they cannot have meaningful lives.
Continued medical advances mean the situation is constantly evolving — in the Sixties, the life expectancy for haemophilia was 11 years; while the condition is potentially life threatening, Tracy’s boys have normal life expectancies.
There are concerns, too, about whether the greater ability to screen for genes will lead to ‘designer’ babies, selected for eye colour as much as good health — and parents screening to save money.
As Dr Jacqueline Laing, a medical ethicist at London Metropolitan University, argues: ‘The dehumanising implications of PGD should not be underestimated. Invite people to design offspring by clinical means and they will.’
However, Professor Simon Fishel, who’s been at the forefront of genetic testing in Britain, strongly disagrees. He says: ‘It’s important people understand PGD is a healthcare option, the only option apart from having children with horrendous genetic disorders.’
Sex selection for family balancing is not allowed in the UK.
Professor Fishel says: ‘Nobody in their right mind would do PGD for the sake of it. It is a huge decision and a costly one.’ (The technique is available on the NHS in centres across the country, but usually only for the first cycle. After this, it must be paid for privately and costs around 6,000.)
He adds: ‘There’s no doubt if it were freely available it would save the NHS money. It has been estimated for the blood disorder thalassemia, the cost of care is 1m to 2m in the lifetime of a child.’
Brothers in arms: After Ben was diagnosed at the age of one, his siblings Dan and Joe were both diagnosed shortly after birth using blood from their umbilical cords
For Gary and Tracy, the decision to reject screening came down to their feelings about Ben. ‘Gary and I both felt to have testing would be like saying we didn’t want another Ben. And we did want him, we love him so wholeheartedly.’
Tracy was also offered an amniocentesis during her pregnancy to find out if the baby was a carrier, but she refused. ‘When I say I have three boys with haemophilia, I get gasps. Before having Ben, if I’d known I was a carrier of the haemophilia gene, I may have gone down the genetic testing route. But once we had Ben, there was no way we wanted to screen out our babies.’
The younger boys’ diagnoses were confirmed at birth following tests on their umbilical cord blood.
Joe was just six weeks old when he had his first bleed — he’d banged his hand on his cot; Dan was six months old when he suffered a bleed from knocking his feet against his car seat. These days, the boys no longer have chest catheters, but are given an injection every other day — Ben has even started to do his own.
Tracy says: ‘The boys are normal, healthy, happy kids. They play football, although not contact sports such as rugby. We travel abroad like other families, although we do take rather a lot of medication with us.
‘We’ve tried to teach the boys that life comes first and their condition comes second,’ she says.
It’s a message they seem to have taken on board. When the family recently moved to Bucks, the boys’ care was transferred to Wexham Park Hospital, in Slough.
Says Tracy: ‘At an appointment to set up emergency out-of-hours arrangements, the doctor said to the boys: “So, you three, tell me what it is you have got wrong with you” The boys just looked at each other in confusion and replied: “Nothing!”’
To find out more about the Great Ormond Street Hospital’s campaign to raise 6.5m to create Europe’s first birth defect research centre, visit gosh.org/bringingresearchtolife
Letter printed in the Daily Mail following publication of this article: Great strides have been taken in the treatment for haemophilia but compassion, rather than a lack of it, is what is needed for families like Tracey Woodward’s (Mail) who are faced with very difficult decisions in planning a family.
As with many rare disorders, there’s a distinct lack of public awareness about haemophilia. It’s true that genetic testing has afforded those families who are aware that they carry a risk of passing on a condition to their children greater opportunities to make an informed decision – but it’s still a decision which can be taken only by the families concerned, in consultation with health professionals.
Around 22,000 in the UK are diagnosed with bleeding disorders, usually inherited, in which the blood fails to clot properly. They take treatment to try to prevent painful bleeding into tissue or joints, which can damage the surface of the joint, causing chronic pain and mobility problems.
Thanks to the high quality of care available in the UK, many people with bleeding disorders live full and active lives. A good is example is Alex Dowsett, a professional cyclist with Team Sky and an Olympic hopeful who has proved that with the right treatment you can have severe haemophilia A and reach the highest sporting standards.
CHRISTOPHER JAMES, Haemophilia Society UK