Women with inherited bleeding disorders – experience as an affected woman and as a treating doctor

I was born in Herne, Germany in 1969, through a normal delivery and without suspicion of any disease in the eyes of the obstetrician/gynaecologist, paediatrician and even my father who is an experienced surgeon. Till the age of two, I had several incidences of haematomas and bruises, which were not taken seriously and evaluated as injuries of a hyperactive child. One of our neighbours has asked my parents if they used to hit me, causing these injuries! Of course my parents had never used any physical violence against me. On the contrary, they were the best parents you can ever imagine. At the age of two, in 1971, I suffered severe bleeding after a lip injury while playing actively at home. The wound was sutured in the hospital by my father and after a long night at home, my mother and father together finally succeeded in stopping the bleeding by applying local pressure. The next day, a haematological assessment was commenced to determine the cause of the bleeding so that a suitable therapy could be instituted. The result was so-called ‘Pseudo haemophilia/Angiohaemophilia’, with differential diagnosis of leukaemia. I had a bone marrow biopsy to exclude the latter diagnosis. However, this did not help me receive appropriate treatment, primarily because von Willebrand factor concentrate was not yet available. Secondly, my parents made the absolute decision to decline cryoprecipitate, because of the fear of the blood borne infection. Iwas 5 years oldwhen I sustainedmyfirst joint bleed at kinder garden.My father (as a surgeon) performed a joint puncture to drain the pressure, used alcohol bandages to avoid infection and of course, applied local pressure. Following that, I had several other injuries, haematomas, bruising and joint bleedings. My family and I became used to managing and coping with these bleeds until at the age of 11, when I experienced menarche, which was a real nightmare. Especially for my mother who had read Dr von Willebrand’s old publication of a 13-year-old girl (Hjdoris, the index case) who died during her third menstruation because of persistent severe bleeding. I did not pass away after my first menstruation despite 18 days of severe bleeding being bound and swaddled like a baby. This was a real horror for me and my parents because of the significant psychological impact from being restricted from physical activities. Even wearing white trousers and skirts or visiting friends or neighbours were all limited by the ongoing severe bleeding. Von Willebrand factor was produced in 1978. However, my parents were not convinced at the time that the product was completely safe. At the age of 19, I started medical school in Hanover. My primary aim was to help myself but I also wanted to help other patients (mainly women) to have better treatment and consequently less bleeding and better quality of life. I got the first prescription of contraceptive pills from my gynaecologist at the age of 25. This reduced my menstrual bleeding from 18 to 8 days but unfortunately could not attenuate the severity of bleeding. At the age of 25, I started my residency specializing in paediatrics at the Muenster medical university Germany. At the same time, with great enthusiasm and passion, I worked in the field of coagulation disorders and these efforts were rewarded with a rich and successful experience in three specialties (paediatrics, transfusion medicine and haematology). Women’s issues and concerns were always the most important focus of my research and clinical practice (the diagnosis and therapy of menorrhagia, bleeding during pregnancy, postpartum bleeding and causes of miscarriages). The fact that I was suffering from von Willebrand’s disease and menorrhagia pushed me to care better for affected women and collaborate with their gynaecologists to ensure optimal medical care and psychological support. Correspondence: S. Halimeh, Paediatric Haematologist, Coagulation Centre Rhinel Ruhr, Konigstrase, Duisburg, Germany. e-mail: Susan.Halimeh@gzrr.de