Doubly rare: Evelyn Grimberg and Minette van der Ven

T here are many aspects of living with haemophilia that make people feel different from others. But imagine the impact of having a bleeding disorder so rare that you feel different from almost everyone else with a bleeding disorder. Evelyn Grimberg and Minette van der Ven from The Netherlands are two such people: they have Glanzmann’s thrombasthenia, an inherited platelet function disorder. There are perhaps 2,000 – 3,000 people worldwide living with this diagnosis – a prevalence of about 1 in 4 million population worldwide. However, there are many more cases than expected in some countries – for example, in some areas of Iran, where the prevalence is estimated at 1 in 200,000. Whichever figure is correct, the odds of having two people with Glanzmann’s in the same room at random are inconceivably small. But this is not a random meeting: Evelyn and Minette are close friends who have come together, not because they share this unusual diagnosis, but because they have the same outlook on living with it. And they have also bonded as women who see services for bleeding disorders heavily geared towards boys and men with haemophilia, to the extent that the impact on women with bleeding disorders has been underestimated or ignored. For Evelyn and Minette, early life with Glanzmann’s was similar to that for many of the current generation of adults with a bleeding disorder. Suspicion first arose after an episode of uncontrolled bleeding – at age four months for Evelyn and two years for Minette. Both are the only family members known to be affected. For their parents, the uncertainty of a future living with a bleeding disorder was compounded by difficulty identifying the cause – it was two years before Minette’s diagnosis was confirmed – but both families adopted a robust approach to raising their child.