Name: ‘LM’, 48 years old.
Son: ‘I’, 12 years old.
City and country: London, UK.
What type of haemophilia does I. suffer from? Haemophilia A – he also has an inhibitor.
What is the severity of his condition: severe, moderate or mild? Moderate.
Is there anyone else in your family who suffers from haemophilia? My father.
When was he diagnosed?
He was diagnosed as soon as he was born as I knew I was a carrier as my dad is a haemophiliac. When I was thinking about starting a family I spoke to my dad’s consultant to ask him to run me through the genetic side of it and to see what the chances were of me passing the gene on. I kind of knew it, but wanted to refresh my mind, and just to ask him about any special precautions that might need to be taken in pregnancy or in childbirth, but that was it, it didn’t influence my decision whatsoever. I had a normal delivery, but if there had been complications I wouldn’t have been allowed to have any assistance via ventouse or forceps in case he was haemophiliac (we didn’t test until after he was born).
What treatment is ‘I’ on now?
Up until he was almost 11 he had been diagnosed with mild haemophilia, so he was just treated on-demand. There were no extra injections or regular hospital appointments, just 6-monthly consultant appointments. If he had an accident we would go to A&E for a dose of factor VIII, and if he needed more than one dose we’d just stay in as necessary.
It was inconvenient if he had an accident as it was unpredictable, and a bit of a worry, but it was fine. However, last summer his levels were redefined as being moderate. As he’d had a few bleeds, particularly into his ankles and, was going on to secondary school they wanted to protect him and put him on prophylaxis treatment. Last summer they trained him to do his own intravenous injections. We had a couple of months of ‘I’ injecting himself twice a week, which took a bit of getting used to, but we were happy as he was responding well and had fairly good levels of cover. We had a couple of incidences where he did hurt himself and there could have been a bleed but, as he was having the injections he was fine.
Unfortunately, in November 2016, he developed an inhibitor and the treatment stopped working. This has had a massive impact on him and on our family. Just before Christmas he had to go into Great Ormond Street Hospital to have a port-a-cath fitted, and since Christmas we’ve been doing an injection every single morning. We still have quite a long way to go with that.
Normally, at the weekends he injects intravenously, and on weekdays we inject via the port. After a few months, there was no measurable level of factor because although we were giving him his factor, the activity of the inhibitor was just killing it off. More recently, the factor is hanging around better than it has been and he’s got a little bit of protection, and had fewer bleeds; from November to April we were in and out of hospital all the time which is hugely disruptive to his school work, family life and our work life but he seems to be coping a bit better with normal physical activities. We are dealing with the emotional impact of daily injections which has been really hard for him. The injection has to be done in completely aseptic conditions – it’s like a medical procedure every morning which has had a big impact on him.
We’ve had over 40 hospital appointments over the last six or seven months, and that doesn’t include A&E visits or admissions, which means he’s missed a lot of school. He’s often late as he doesn’t want to do the injections, he’s had to give up tennis, and he’s not been allowed to do PE at school for the last 4 or 5 months, although he’s finally been allowed to go back to PE.
There’s nothing they can do to change his treatment at the moment as we’re still hoping the immune-tolerance will work – the results are beginning to look promising. The inhibitor hasn’t gone, but is low, and his factor levels are starting to increase, so we don’t want to change anything now. Once we start to get negative inhibitor levels, we’ll stick with the treatment for another couple of months, and then we’ll start to reduce the dosage he receives each day but, it will still be a daily injection.
How is your access to healthcare? Do you think you have enough support from the government of the UK and the NHS?
We get a huge amount of support; ‘I’ probably wouldn’t be with us if it weren’t for the NHS. The treatment itself is very expensive, so they help hugely just by providing the treatment. We have an excellent healthcare team. Beyond his specialist nurse who is one in a million and his consultant we have a physiotherapist who we can call at any point, specialist dentistry and a psychologist. Although he’s a 12 year old boy who doesn’t enjoy talking about how he’s feeling, he does like the way that the psychologist helps him to look at things and learn coping strategies.
Are you part of any support groups? If yes, what are your main activities and how does that help you?
We’re members of the Haemophilia Society, and attended an activity camp last week. There were 47 children who were haemophiliacs and their siblings! Because ‘I’ doesn’t like anyone else doing his port injections, myself and my husband did half the week each. We didn’t take advantage of support from the society for a long time as we were just getting along, and I didn’t often feel the need to talk to other people but there have been a few events recently that we’ve been contacted about, and the activity camp was one of those.
‘I’ sometimes feels like he’s the only person living with the condition, and this was an opportunity to see other people and do activities he wouldn’t normally be allowed to do, as there were nurses and physiotherapists there for support. It was also nice for my daughter to have a nice time as she puts up with a lot. It meant that ‘I’ could meet other people and exchange contact details, but they didn’t really talk about haemophilia other than treatment. I think it did him a lot of good.
What do you hope for your son and others who have haemophilia? How do you see the future for haemophilia patients?
My hope is that the gene therapy they are working on proves to be effective and can be rolled out to more boys and men. I’d also like easier, less frequent treatment for my son. I know that children today in their teens and twenties have benefited from such big advances in medical treatment than older sufferers, even those in their thirties and forties. Even given our situation at the moment and how difficult it is, I try to remain optimistic because I know there are people working on improving outcomes and treatment.
Is there anything you think is important to share with people who don’t know much about haemophilia?
The one thing I have learnt is that every single patient is different, and it’s really difficult to standardise care. There are so many different phases too; when he was thrashing around in his cot I’d worry about him bruising his arms, then when he was starting to walk I was worried about him falling over. Now he walks to school on his own and you worry about that. Soon it will be the teenage years when he will be out and about on his own more. Every age brings its own challenges.
One of the big issues in the community is the disaster of infected blood products being used back in the 70’s and 80’s. 4,800 people were infected with hep C, 1,200 of whom also contracted HIV. Over half of those have since died. Finally, it looks like the government might start to take this matter seriously and conduct a proper inquiry into what happened to hopefully give some recognition of how disastrous this was for those affected families.
Haemophilia is an interesting condition as it impacts so many people in such different ways. You can’t underestimate the psychological impact of it – there’s not always enough focus on this side but we are lucky in that respect.