My name is Stephan Meijer. I’m 26 years old, live in Utrecht, the Netherlands, and I have Bernard-Soulier syndrome. This is an ultra rare hereditary platelets disorder, which affects only 370 patients worldwide.
At the age of six my parents took me to the hospital, because I had pinpoint bleeds. After the first scare, the symptoms, save the little bleeds and bruises, fortunately turned out no to be so bad. As a child I could do whatever I wanted, and my parents definitely encouraged me: swimming, scouting, music lessons, vacations and student exchange programs. Yet, there was always this insecurity about bleeds. Especially because of their unpredictability, the bleeds where always on my mind, even when things were fine.
After eighteen years and many, many tests and hospital visits, finally the diagnosis was made: Bernard-Soulier syndrome. Although it didn’t make much difference to my daily routine, it’s reassuring to finally have a definitive diagnosis. With medication it’s also easier to keep the bleeds under control.
Nonetheless, even with medication the bleeds are still unpredictable. This randomness is the most annoying aspect of my disease. Not too many people have heard of blood clotting disorders, even fewer people understand what it means to have one. So, when I have a bleed, people can get freaked out. It’s also not always easy to muster the energy to explain what exactly is going on. All this is very unpleasant, especially when you have to cancel an appointment at the last minute, because you have a bleed and you know you’ll have your hands full for the next few hours.
By participating in the ‘blood relatives’ project, I hope to bring blood clotting disorders to the attention of a wider audience. I think it’s important more people understand disorders like this, and I hope more research into this kind of rare chronic diseases will get done.