44-46 - Patient file: haemophilia

Can you describe your path to diagnosis?
My dad has severe haemophilia A, which is a hereditary condition, so I always knew that I was going to be tested to see if I was a genetic carrier. When I was 18, my dad booked me an appointment for a blood test. At the appointment, I explained that I had experienced some heavy bleeding during my lifetime, but this wasn’t conclusive. The consultant said he would check my clotting levels whilst I was there ‘to be sure’ and I was on my way back to the car when I was called and informed that my clotting factor levels were 27% (where normal is anywhere between 50 – 200%). This meant my levels were actually low enough to have mild haemophilia and I was almost certainly a carrier, and that I shouldn’t play certain sports as this may put me at risk of a bleed.

What were you told about living with haemophilia?
Beyond my diagnosis, I didn’t ever have a consultation about what it was like to live with haemophilia from my centre. I knew about living with a bleeding disorder through the experiences of my dad, although these were very different as he has severe haemophilia and is male. I learnt bits about it from looking online and through The Haemophilia Society’s website. The information was largely negative and it scared me.

How did you cope with the diagnosis?
At first, me and my family were shocked: we never knew that a girl could have haemophilia as haemophilia primarily affects males. Over time, as I figured out what it meant for me, I went through quite a roller coaster of emotions. Part of me wasn’t too worried because I had lived with the condition for 18 years and hadn’t been too badly affected. However, it was only after my diagnosis that I realised how much haemophilia had impacted my life in the past and I began to worry about what implications it could have for the future. I didn’t know any other girls with a bleeding disorder, so I felt quite isolated.

What care have you received?
In the past, my care has been patchy and inconsistent. Some doctors have refused to consider me outright because of the common misconception that ‘girls don’t have haemophilia’. Treatment is hard to come by and my health concerns are often dismissed and blamed on other things. I have always struggled with heavy menstrual bleeding and doctors have previously just said that it is simply bad luck and nothing can be done! I ended up having to go to a gynaecologist who has no experience or expertise with bleeding disorders in order for my symptoms to be taken seriously.

However, I currently have the most amazing consultant at my centre who makes sure I am well looked after. She speaks to the other medical professionals that I come into contact with and advocates for me, making sure I have access to all the other support and services that people with severe haemophilia have. I genuinely believe she has my best interests at heart and couldn’t be more grateful to have her on my side.

How does having haemophilia affect your day-to-day life?
I’m an avid rugby fan, having watched it from a young age and desperately wanted to play. I knew from my dad that contact sports were not advised for people with bleeding disorders which was incredibly difficult to process: I wanted to play rugby when I started university and I was heartbroken to know that it was something that I couldn’t do. After a few years, I decided to give it a go and just see what happened. The contact element was hard and I found I couldn’t play as many games as the other girls because I took longer to recover than they did. Playing rugby with a bleeding disorder is not recommended, and I’ve had to give it up for the time being, but I got so much from being part of a rugby team and it completely changed my life. If I didn’t have a bleeding disorder, I would certainly play it more.

My menstrual bleeding has always been heavy and at times it has had a huge impact on my life. I hated being away from home when I was on my period as I was worried about leaking or not having the supplies with me that I needed. I stopped going to sleepovers altogether as I couldn’t get through the night without bleeding through and avoided socialising if I knew I would be bleeding. I was a conscientious student so tried to avoid missing lessons, but there were times that it was so heavy that I had to ask to go to the toilet during lessons: some teachers were okay but others would tell me to go to the toilet during my own time and I had to wait to change my sanitary protection. I regularly bled through my clothes and lived in constant fear of someone noticing before I did. I am regularly anaemic because of how much blood I lose and at times, the amount of sanitary provision I have needed has been incredibly expensive and I’ve avoided changing towels when I could to save money.

What would you say is the greatest challenge living with a bleeding disorder?
Being a girl with a bleeding disorder is incredibly difficult because there is still a misconception that only men have bleeding disorders. This has meant that when I have spoken to medical professionals (including those at my haemophilia centre) about symptoms I am experiencing, I am told that either I am exaggerating or that it has nothing to do with my haemophilia. This means that you can’t access the right treatment and I have often been left to live with these symptoms without help. These difficulties can be further exacerbated by the fact that haemophilia is a very rare condition, and very few people, including medical professionals, have heard of it.

An example of this is when I went to the haemophilia centre with a swollen knee. The physiotherapist said it wasn’t a knee bleed and didn’t offer treatment. My knee was later aspirated in hospital and blood was in the sample.

How has your mental health been impacted as a result of your bleeding disorder?
Predominately, I have felt very isolated and alone, like no-one understood what I was going through. It was difficult growing up with a dad who had a bleeding disorder as none of my friends understood what it was like to have someone in the family who you had to provide care for, so I had no one to talk to about what I was going through. My mum struggled mentally with the strain that it put on our family, so I often had to support her too. At times I felt so low that I couldn’t see a way out.

I often feel resentment towards my bleeding disorder, especially when I’m faced with an injury, as I’m usually quite an active person and injuries get in my way. I also struggle with my identity because I often don’t feel like a person with a bleeding disorder because I don’t have severe haemophilia, but I don’t feel normal either. I’m stuck in a weird in-between.

On the flip side, having haemophilia has given me a unique sense of purpose and made me the person I am. It’s given me a passion for helping others and a determination to do things that I set my mind to. I have been given so many incredible opportunities and met so many amazing people that I wouldn’t have met if it wasn’t for my bleeding disorder and being a part of the bleeding disorder community.

How has the multidisciplinary team supported you with managing your condition and do you feel involved in the decisions regarding your care?
For the first time ever, I have been involved in a multidisciplinary team this year. It has been incredible to be part of a team of people who are there for your best interests and are working together for the best possible outcome. I can talk about my experiences and I’m taken seriously. Although this is something that has been new for me this year, there is still room for improvement and there are still professionals that I would love to see working collaboratively for women with bleeding disorders.

Previously, care was very clunky and it was difficult to know what to do in regards to managing my care with other health issues as well as my bleeding disorder.

What advice would you give to someone newly diagnosed with haemophilia?
A life with haemophilia is still a normal life! Having a bleeding disorder doesn’t stop you from having friends or going and doing crazy things and you definitely don’t need to be wrapped in cotton wool. Managing your treatment gets easier over time and it will allow you do everything you want to do in your own way. If it’s right for you, engaging with the bleeding disorder community will help you figure things out. Since finding other people with bleeding disorders I have been so much more confident and it’s helped me accept who I am.

What are your hopes for the future?
I’m hoping to run the London Marathon this year to raise money for The Haemophilia Society – it’s quite a challenge! I’ve never run long distance before or even run in an organised event… but it’ll be worth it to raise money for such a worthy cause.

I’m also hoping to do more within the community now that COVID-19 restrictions are starting to lift. I’ve already got a few events planned and I’m very excited for the future.