At what age were you diagnosed with haemophilia, and what were your symptoms?
I was diagnosed with haemophilia A (clotting factor VIII deficiency) at birth. My 3 percent level is classified as moderate but I have a severe phenotype, meaning I bleed like someone with levels below 1 percent.
My mother carries the faulty X chromosome inherited from my grandad, who also had haemophilia. This means that there was a 50% chance each son of hers could be affected. It transpired that my parents would have three of us with the condition! As the youngest son, I guess you could say they were prepared for the outcome, even though I had no visible symptoms of bleeding.
What is your earliest memory of the condition?
My mum likes to remind me how clumsy I was growing up (although to this day, I still am!). I frequently had a bump or bruise on show, which took a long time to heal. I also remember having excessive nose and mouth bleeds, so you can imagine the horror show waking up some mornings! But it was the internal bleeding into my joints, in particular my ankles and elbows, that standout in my memory the most. The tell-tale tingling sensation, warm to the touch, visible swelling and ever increasing pain are all symptoms I still recognise with today.
During my early years, I was receiving conventional on-demand replacement therapy as a moderate, so at the first sign of a bleed my parents would have to take me to the local general hospital for my intravenous injections. The trauma of a bleed was only worsened by the fear of the hospital/doctors/needles and often difficulty of finding my vein. All of these have stuck with me!
Do you feel it has a significant impact on your life?
I was brought up to think that I am no different to anyone else and always encouraged to lead the life I want. But the impact of repetitive bleeds in the same joints (“target joints”) have somewhat taken their toll. I cannot straighten my right arm and I had to have my right ankle fused when I was just 16, meaning no up or down movement. I am limited with daily activities and the types of exercise and social activities I can do, which altogether makes living independently a challenge.
History feels like it is repeating itself with my left ankle as I am now having similar problems. This means attending numerous hospital appointments, which can really disrupt my working life. Luckily, I have very understanding clients but it is still difficult to manage at times.
What do you find the worst aspect of living with the disease?
Haemophilia is unpredictable, so I never know when I may have a bleed. I had been adhering to treatment prophylactically every other day for a number of years, when out of the blue, I suffered two progressive spontaneous joint bleeds simultaneously. I was hospitalised for a week. It shook me that an episode like this can still happen to me out of my control.
With ongoing problems in my left ankle, I am now having daily infusions to give me a higher level of protection. Although I would prefer not to have to inject at all, I am fortunate to have access to safe, sustainable treatment to help prevent further damage
and protect my future mobility.
What have you been told about your prognosis?
As yet, there is no cure for haemophilia. For now, I continue to work closely with my specialist multidisciplinary care team to personalise my treatment plan and access different services to help give me the best possible outcome.
What treatment have you received for the condition?
Up until the age of 8, I was receiving plasmaderived factor. This was a huge quantity and took a long time to mix and administer, either in hospital or eventually when my parents learned to treat me and my brothers at home. It was a relief to switch to a recombinant product in 1998 with smaller vials and less to infuse, whilst being assured it was a safer option. I am still treating with a standard recombinant factor today.
The other forms of treatment I receive include physiotherapy to help improve and maintain joint function as well as orthotic care to aid my walking. I have also been offered psychological support, which is comforting to know should I need it. I believe mental wellbeing is as important as physical health, so having access to services like this are really important.
Have you been told about any clinical trials, and would you consider taking part?
There are now clotting factors that have been engineered to last longer in the body (Extended Half-Life). These have the potential to increase protection from bleeds for longer and I know of ongoing trials for similar products. I am also aware of new subcutaneous delivery systems on trial that may reduce dosing to once a month as well as gene therapy trials, which could signifi cantly change the treatment paradigm in the years ahead.
Due to circumstances, I have not yet been on a trial. I do, however, fully appreciate the willingness and bravery of people to take part in clinical research that could improve the lives of people like me. I would seriously consider the opportunity should it arise.
Do you think the depth and quality of information offered to haemophilia patients is adequate?
I am never afraid to ask questions to my specialist clinical team and trust the medical advice, support and resources they give me but maybe this is not the case for everybody. Patient groups like The Haemophilia Society exist as a go-to-charity for wide-ranging information and community services for all those affected by bleeding disorders. There is also a plethora of haemophilia-related content online, although you have to be wary of what is accurate. For many patients, social media can be a lifeline to connect and share experiences and knowledge with each other, whilst raising awareness to the wider public of what living with haemophilia is really like.
Are you happy with the NHS care you have received?
In our younger years, my family relied heavily on the community nurse from our specialist centre in London visiting us at home in Essex to provide specific care needs that were not local to us. Today, I have to travel to London to access specialist services because they are still not provided locally. The fact that I live under a different NHS Trust can also mean delays in referrals for certain, necessary procedures as a consequence of having haemophilia.
Then again, I never lose sight of the fact that I get my specialist care from one of the best centres in the world. What’s more, I am lucky to have clotting factor through the NHS when an estimated 80 percent of individuals with haemophilia globally have no access at all.
What inspired you to become a Youth Ambassador for The Haemophilia Society?
At the heart of patient advocacy is a great desire to help and I had reached a stage where I felt I could make a positive difference to people like me. Becoming a patient representative for my specialist centre was an important step towards eventually volunteering with The Haemophilia Society and engaging more with the wider bleeding disorders community, especially young people.
Being a Youth Ambassador and patient advocate in general opened my eyes to an active and cohesive global network that I never knew existed and one I would become part of. It has changed my life for the better, from making lifelong friendships to giving me so many different advocacy opportunities at home and abroad. I feel really fortunate now to be to working in the haemophilia space.
What advice would you share with fellow haemophilia patients?
When volunteering and meeting young people and families, I stress the importance of adhering to prophylaxis to safeguard against future joint damage. Looking back, I was unaware of the consequences of being active without the necessary cover and so prevention is key. I also make a point that if you manage your condition well enough and with the right support, you can achieve absolutely anything. You do not have to let your condition define who you are!
What are your hopes/fears for the future?
It is really promising to know the type of advancements happening in haemophilia right now and I can only hope this commitment and investment will continue. I do recognise, however, the NHS does not have an infinite budget, so although access to new treatment options should be made available to everyone no matter where you live, I wonder if this will be the case?
Looking ahead, personally it is the prospect of having another ankle fusion that scares me the most but at least I have choices available, unlike many of my friends with haemophilia across the world. My one wish for the near future is that equal access to care and sustainable treatment becomes a reality for all.
