PharmaTimes talks to Carreen McCay about her 10 year-old son Henry’s experiences with haemophilia A
Can you describe the events that led to Henry’s haemophilia A diagnosis?
He had unexplained bruises as a baby. From early on, even in the first few weeks, he would get bruises across his knuckles. We took him to the doctors but nobody was overly worried at the time. Then, when he was about five months old, he got a really horrible bruise just below his rib cage that turned in to a nasty black welt overnight. I think the GP was a bit fed up of me asking all the time, but I had her direct number and asked her about it and she said “I’ve told you, just take a picture of it, it’s nothing to worry about”. Luckily though, there was a baby clinic up the road to which I took him, and they told me to take him to a doctor immediately as it was not a normal bruise.
The doctor booked us in for blood tests for the next day, and the night after we were told: “There’s something wrong with Henry’s blood. If there’s anything that you’re worried about take him straight down to the hospital.” We weren’t really sure what we were meant to be looking out for, so that night we sat above his cot just staring at him all night. The following day it was confirmed that he has haemophilia. It took a bit of back and forth to get a diagnosis, but I’m heavily involved in support groups so I know our journey was comparatively easy, some families even have social services involved.
How would you describe his symptoms?
As a baby he would hold his limbs differently. Also, in hindsight, we now realise he was a really cry-y baby. Now we’re thinking maybe he just ached a lot and didn’t know how to express it. He never presented himself as a textbook haemophiliac – he doesn’t often get swelling, he didn’t often go red. He always had little bruises but they were in places that you could explain it, but now thinking back it’s the internal bruises that would have been causing the pain.
At two years old he developed an antibody against the essential blood-clotting protein factor VIII, which meant he had no protection against any bleeds.
From the age of two we were probably at the hospital once a week, and then a couple of years ago he managed to get on a new drug. It’s stopped his bleeding, and so this is the first school year that he hasn’t had to miss any days because of haemophilia. We just have a hospital check-up every three months.
What sports can’t Henry do as a result, and what are his favourites?
Mainly it is the contact sports, such as rugby, that are a no-go. For a while he couldn’t play football, but now that his health has got a lot better he has joined a football team. He’s done spats of fencing before and he loves archery. Henry also likes trampolining but we have to actively avoid it because of the damage on the joints, or any potential accidental collisions. Even on this new medication, he’s been to two trampolining parties and ended up on crutches the next day.
He’s a bright and lovely boy who can work it out for himself, and he also has haemophilia support groups that he can find activities through. It helps him using his muscles and increasing his fitness, as well as just knowing that he can take part.
As a parent, what do you worry most about with his haemophilia?
The bleeds, as they can be life-threatening. A brain bleed is still my biggest worry to this day, I would always surround his bed with teddies just in case he fell out in the night. He’s still got a low bed, just for peace of mind. Often he gets into our bed during the night, but when he does spend the whole night in his own bed I always have to take a deep breath before going through his door in the morning because I’m terrified of what might have happened overnight.
Could you tell us a little bit about Henry in general?
He’s a very mature boy, which might be because he’s had to spend so much time around adults in his life. He can hold a conversation so well. He’s very protective, and he’s definitely a leader. He’s really caring and inquisitive, he wants to find out everything. He likes to find out everything about what’s going on with his body, or what Donald Trump’s doing in the news. He could give you a little explanation on Brexit if you asked.
What does a typical day caring for Henry involve?
It has changed a lot, it used to be that we needed two hours before we left the house so we could administer the medication, etc. Now he just has subcutaneous medicine every two weeks, so it’s a lot easier. His school is great, they’ve established good communication with him and they know to ring me if something is out of the ordinary. Day-to-day, it’s the same as looking after any other child but you’re just on a more heightened alert.
What would you say is the greatest challenge for both you and Henry with haemophilia A?
Other people not recognising it or understanding you. People need to understand that one day he can be on crutches, really hurting and aching, but then next day he can run around. In the play park I always need to keep an extra eye – if he falls it’s going to cause a lot more problems than it would a regular child.
What coping strategies have you developed as a family?
We talk a lot, we’re very open. We make sure even his sister is included. We’ve also got support groups – myself and one of my friends recently got charitable status for our support group. It started as a few of us in the local area, but we suddenly have loads of members. Ultimately it’s families supporting families, and you get a huge sense of relief from knowing that these people understand you and what you’re talking about. It’s a coping mechanism.
What advice would you give other families or patients in the same situation?Communication with other people is the main thing. Also, knowledge is power. If you have something bothering you, definitely find out about it and speak to other people about it. Even if your consultant says something that you’re not sure on, question it and get a second opinion.
Generally, if your child says that there’s a problem, 90% of the time there is a problem, they know their body better than you do. Finally, no question is a silly question. Don’t be afraid to find out everything. Up until now I didn’t think that much of counselling either, I just kind of accepted what was happening and thought it was ok. Funnily enough, as Henry had gotten better I’ve stopped to look back and realised that everything was so full on for so many years, that I probably didn’t have a chance to properly sit down and think about it.
What is your greatest hope for the future?
That he continues to be a strong, lovely boy. I wouldn’t even go so far as saying I hope for a cure, I just hope it continues to be managed appropriately. So that he can live his life to the full, just like any other child.