Living with haemophilia

Tracy and her husband feared the worst when their baby son was diagnosed with severe haemophilia. But thanks to new and better treatments they've learned that Ben can look forward to a bright future. Here Tracy tells their story.

"It was raining the night we were told our son had haemophilia. I lay awake clinging to my partner Gary, listening to the rain buffeting the windows outside. 

"Severe haemophilia the doctor had said. A lifetime of spontaneous bleeds, joint damage and eventually Ben would end up in a wheelchair. He told us how his body didn't make any "Factor VIII", a blood clotting agent.

"The condition was genetic and I would later learn that I had passed on the faulty gene to my son. He wasn't even a year old, but that night my husband and I mourned for the bright future we thought he would never have.

"It had taken us a visit to the doctor and a week's stay at the hospital to get a diagnosis. Ben had cut his finger on the dishwasher. It was only a small cut but we just couldn't get the bleeding to stop. The doctors couldn't get it to stop either. It took the hospital almost a week to get a sample of blood large enough to test."

Blood transfusion

"We were referred to the Haemophilia Centre at the Royal Free Hospital where Ben was to have an injection of Factor VIII. Because Ben had been bleeding for a week and was totally traumatised, the nurses were unable to inject into his veins. The veins were shutting down so the injection had to be done under general anaesthetic. He also needed a blood transfusion. These were our worst days. So much for a young child to endure and as parents we felt helpless.

"As we started to learn more about the condition, we realised that if we had more children, any boys would have a 50 per cent chance of having the condition and any girls would have a 50 per cent chance of being a carrier.

"We watched Ben suffering, we thought about the suffering to come, and those odds strangled away our plans for a large family. It was April, and we were just a few weeks away from our wedding day."

Frequent injections

"The Royal Free had told us that we had a normal, healthy boy and should treat him as such, but the next year was hard. Every time he fell or hurt himself we were sick with worry. We were backwards and forwards to the Royal Free (about an hour's journey from our home) for life-saving Factor VIII injections and the inevitable struggle to get a needle into Ben's very small veins.

"Ben hated having those injections - they were upsetting for him and us as well. We literally had to pin him down for them. He was too young to understand what was happening, or why he needed the medication.

"Ben's condition really affected our lives. There's no way we could go away on holiday - we needed to be near the hospital in case Ben needed an injection. I remember when we took him to have his first pair of shoes fitted. The assistant took hold of his foot to measure it and he panicked - he thought he was going to have blood taken again. 

"Then just before Ben's second birthday came a ray of light. The hospital suggested that Ben be fitted with a port-a-cath. We learned that this is a device that sits under the skin on the chest, with a tube leading directly into a major blood vessel. This would allow Ben to have the treatment he needed via the tube rather than having regular painful injections into an arm, hand or foot. It would allow me to provide him with this treatment at home."

Port-a-cath breakthrough

"We jumped at the chance. The operation took place at Great Ormond Street Hospital (GOSH). It was very straightforward, and went smoothly, but we stayed at the hospital for a week so we could learn how to use the port-a-cath. 

"We were on Lion Ward and it sounds strange, but we really had a nice stay. Ben enjoyed himself in the ward playroom. In fact he headed there only a couple of hours after his operation! We met all the Haemophilia team and they were so helpful and supportive. It was such a relief to be able to get the treatment into Ben without him crying, and having to hold him down.

"Once we knew we felt comfortable with giving Ben his treatment, we went home. A nurse came to help us give it at home at first and it was great to have that support. 

"I can quite honestly say that we haven't looked back since. Once we had established a routine of regular treatment, we actually felt like we were on holiday. Before this, it felt like haemophilia was in control of our lives. Once the port had been fitted, the haemophilia was still there, but now we felt that we were the ones in control."

Three with haemophilia

"Nine years on and our outlook is totally different. We went on to have two more boys - Joe, now seven, and Dan, five. Both also have severe haemophilia.

"We considered sex selection (allowable in the UK for haemophilia) but decided against it, as we felt it would be like saying we would rather have been without Ben, which just isn't true.

"We travel abroad with the kids (albeit with rather a lot of medication) and I'm a dab hand with a needle and syringe. Ben can administer his own injections.

"Of course there are some things it wouldn't be sensible for the boys to do at a very competitive level: rugby, boxing and wrestling being some of them. But it is a small price to pay given that I have three healthy and happy boys who enjoy football and trampolining in the garden, running around with the dogs and generally being normal kids.

"This is the wonder of medical science. My sons now have a normal life expectancy, but in the 1960s they would have had a life expectancy of about 11 years old, which is the age that Ben is now.

"All the boys' care is now at GOSH and we come every six months for them to have a general check-up. This involves meeting the Haemophilia team - the doctors, nurses and physiotherapist, and they also see the hospital dentist. I know that if I have any concerns in between, I can ring the team for advice. They always say too that if I'm worried I can just bring the boys to the hospital.

"Somehow GOSH is different to other hospitals. The care and support is fantastic and because it's a children's hospital they just seem to know what we need. They also have a parents' support network so if you are the parent of a child newly diagnosed with haemophilia, you can talk to parents whose children having been living with the condition for years. I found this really useful in the beginning.

"I know my sons are all still young and puberty may bring its own challenges, but I believe their future is indeed bright. We have tried to teach the boys that life comes first and the condition comes second.

"This was borne out for me by a recent visit to our local hospital to set up emergency out-of-hours treatment. The doctor came in to speak to my boys and said: 'So, you three, tell me what it is that you have got wrong with you?' They looked at each other in confusion and replied: 'Nothing!' Long may that attitude continue."

Better treatment today

Kate Khair, Nurse Consultant for Haemophilia at Great Ormond Street Hospital, says that enormous improvements in treatment in recent decades have resulted in such a bright outlook for Ben and his brothers.

"We now use genetically engineered Factor VIII which stops the infections with viruses that children used to experience when we used human blood," says Kate.

"We have also found that giving treatment every day to prevent bleeding, rather than treating children after a bleed has happened, is far more effective. In the past, children with haemophilia unfortunately often suffered joint damage. Now they have normal joints and are able to play sport just like boys without the condition."

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