How and when were you first diagnosed with hereditary angioedema (HAE)?
I was diagnosed at the age of 15 after visiting many different consultants, dieticians and doctors over the previous 13 years. I was finally diagnosed by a doctor at the Nuffield Hospital in Taunton who only by chance suggested he test for it, because he had no idea what was wrong with me. This was a turning point in my life.
As it’s hereditary, who else in your family experiences it?
My sister, brother (and niece), father and grandmother. My great-grandmother also had HAE but she had passed away by the time I was diagnosed, but she used to suffer with facial swellings which she was always told were allergic reactions to something.
Was it known when you were born that it would be passed down?
I wasn’t aware I had HAE until the age of 15. I was symptomatic from the age of two but no one knew what was wrong with me when I was unwell. Because of my diagnosis, my family were all tested and some of them diagnosed.
Which type of angioedema do you have, I, II or III?
Type I. (This is one of the most common types of hereditary angioedema, caused by a mutation in SERPING1 gene that results in depleted levels of the C1 inhibitor.)
Is there anything in specific that triggers an attack for you?
Repetitive exercise and stress (good and bad stress) often cause swellings. I haven’t found any food triggers, although many HAE patients say they have to avoid certain foods.
Where on your body do you experience your worst symptoms?
Abdomen. These are my most frequent swellings. I often start an attack in my hands, feet, back or groin area, but it always progresses to a stomach attack, which I find extremely painful. I have suffered a few throat swellings in the past, these are really frightening and extremely uncomfortable.
Could you describe an average day living with hereditary angioedema?
I am always on edge wondering when an attack may occur, which has a big impact on my day-to-day living. My attacks are very frequent, twice per week, so I always have to make sure I have my medication with me if I travel away from home to ensure I can self-administer as soon as can. I even have to consider my HAE if I plan a night out with friends or a day of shopping, ensuring I know where there is a safe, clean space for me to self-administer if I need to. I have a positive outlook though and don’t let having HAE stop me from participating in events, travelling to faraway countries and enjoying things anyone else would. It just takes a little more planning!
Have you ever experienced any stigma due to the visual aspects of the disorder?
I felt quite excluded growing up because I was undiagnosed and suffered frequently from visible swellings. No one knew what it was and it often took days for the swellings to subside, meaning I was unable to participate in activities with my peers, and making me feel like an outsider.
What do you find the most difficult aspect of the condition?
The unpredictability. With all the planning in the world you can never anticipate exactly when an attack will occur. I have lost track of the social events, parties and nights out that I have had to miss or leave early, due to an attack.
What treatment have you received, now or in the past and how did it work for you?
After diagnosis I was prescribed androgens, which worked amazingly for me. They almost stopped my attacks, I only suffered one or two breakthrough attacks per year. So having the androgens meant I could concentrate and fully participate in school, pass my exams, go to college and get a full time job. About eight years ago I stopped the androgens to start a family and suffered two minor heart attacks in two years, so because of this I am no longer able to use androgens as a treatment due to the risks. So more recently I have been taking C1 inhibitor as an on-demand treatment, which is working very well for me. I treat on demand as soon as an attack starts, and it means it doesn’t have a huge impact on my life. The C1 inhibitor starts to work quite quickly and I only need to take a short time out of my day to administer and rest, before continuing as normal.
Are you happy with the NHS care you’ve received?
The NHS care I receive for my HAE is excellent. I have a really good relationship with my consultant, and he is always willing to talk about my concerns, allows me to make decisions about my treatment, and discuss new treatments and taking part in trials.
Do you think the quality of information available publicly about hereditary angioedema is adequate?
I feel there is a lot of information about HAE but it is not known about enough. Very few doctors and nurses have ever heard of the condition, so it makes it very difficult for people to understand how an attack affects you and the importance of swift treatment in an emergency setting.
Have you ever taken part in any clinical trials, and if not, would you consider it?
I have taken part in one clinical trial and would be very keen to participate in more, but due to my heart issue, I am excluded from most.
What are your hobbies?
I love being active, running, surfing/bodyboarding and playing rounders as part of a local league team. I also enjoy travelling and spending time with my family and friends.
What are your hopes and fears for the future?
I look forward to new treatments which will offer all HAE patients, regardless of where in the world they are, to live a full and active life without fear of painful attacks. With the many HAE national member organisations around the world now, knowledge is growing and we are better able to support each other, this will only get better. Personally, I worry about access to medication in the UK immediately after Brexit and for the future.π
