Doubly rare: Evelyn Grimberg and Minette van der Ven

There 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.

Children with bleeding disorders are special but not different, the women agree. Both were treated the same as their peers:

Both women grew up as a cherished daughter, not a person with Glanzmann’s to be protected, and they credit their positive attitude to their upbringing. They do, however, recognise that their parents paid a price for allowing them such freedom. To this day, Minette knows her mother waits apprehensively in case the phone rings with a call for help. Both women still rely on their parents’ support, though now they are the ones who recognise when they need help.

A childhood lived with a bleeding disorder through the 1980s and 1990s was less of a challenge when factor replacement therapy was available but, by contrast with haemophilia, there is no effective prophylaxis for Glanzmann’s. Bleeds are treated (with a platelet transfusion, in severe cases), not prevented. For many people, this would be enough to make them avoid the slightest risk – but Evelyn and Minette are not the type to hide away. They have several long distance bike rides behind them, including a 1,000 km, 15-day trip from Utrecht in the Netherlands to Stavanger in Norway for the 2016 European Haemophilia Consortium (EHC) conference.

As well as raising awareness about bleeding disorders, the project also emphasised the value of being active and physically fit.

Planning the bike ride took a year, from conception to completion, with monthly plans providing regular goals. Minette says she has a tendency to over-exercise and needed other people to rein in her enthusiasm. The project created a small, supportive group whose members can go on to inspire others.

Having realistic ambitions is especially important for someone with Glanzmann’s because the risk of a bleed is ever present. This affects a person’s confidence when participating in sports and going on holiday, at any time or place where medical care is not readily accessible. The key to becoming more active is to start small, build up slowly and keep yourself motivated by involving other people. Talk to the medical and nursing team – especially the physiotherapist – but be aware that health professionals are sometimes sceptical about an individual’s ambitions.

Thinking about what can and can’t be done affects all aspects of life – even issues as mundane as choosing furniture:

And in truth, bleeding disorders can have effects that reach far beyond the immediate problem of uncontrolled bleeding. For women this is something that has not been properly acknowledged, whether they are told they are a haemophilia carrier or they have a specific diagnosis of a bleeding disorder.

Evelyn and Minette feel strongly that this is a topic that is not sufficiently aired. Their families had not fully understood how heavy their periods would be and had not realised this was the norm for women with a bleeding disorder: for some it is severe, for others very severe. This lack of awareness was shared by general physicians and nurses. Even today, they believe, families are not fully educated about the impact of bleeding disorders on women.

The standard treatment for heavy periods is a hormonal contraceptive, but some women still have breakthrough bleeding and troublesome side effects.

In such cases, the only option is to eliminate periods completely by inducing an early menopause with injections of a progestogen.

Both Evelyn and Minette feel that the doctors they consulted had not fully understood the impact of starting periods, and consequently their families were unsure what to expect. Health services need to do a better job of educating parents and girls that what’s likely to happen will not be normal. This is not something that girls with bleeding disorders feel able to discuss with their peers at school, so families should be able talk to one another more easily. One idea to help share experiences is to develop an online resource of women’s first-hand accounts of living with a bleeding disorder. This applies equally to the women currently diagnosed as haemophilia carriers but who actually have a bleeding disorder themselves.

And once the immediate problem has been managed, there is time to think about the longer term implications:

Evelyn and Minette have a positive outlook on the future for someone born with a bleeding disorder. There will be times when questions have to be answered:

But their advice for parents could apply equally to every child: