Sonya, 54, lives just outside Hull and is one of five sisters. Her father had haemophilia B – a rare form of haemophilia – and as children the girls were often quite poorly when their teeth came out or they otherwise were injured and bled, but nothing was ever said about it.
When Sonya became pregnant, aged 30, she was offered testing and it emerged that she is a genetic carrier of haemophilia B and the low levels of clotting factor proteins in her blood (23) confirmed that she has a moderate form of the bleeding disorder herself.
In fact, all of Sonya’s sisters have now been tested and all have factor levels under 50, the threshold for being diagnosed with a bleeding disorder. But when Sonya was younger – and to an extent still today – there was little recognition that women who carry the haemophilia gene can also have a mild form of the disorder. This means many women struggling with the symptoms of a bleeding disorder who need a diagnosis, support and care.
“I feel that I could have received much more support before, if I’d been diagnosed before I became pregnant when I was 30. I’ve had to deal with very heavy periods, and so worrying about embarrassing leaking, all my life. But I just thought that that was normal.
“I also spent a week in hospital because I severed my tongue and it wouldn’t stop bleeding, but again, no-one suggested that there might be something unusual happening.
“There is a lack of understanding and awareness and it seems that too often from birth until they carry a child, women just haven’t been offered specialised testing, even if they have a family history of bleeding disorders.
“My sisters and I all suffer with joint problems, and one sister has already had a knee and ankle replacement at the age of 56. I can’t help but think this wouldn’t have been the case if we’d have had been diagnosed and offered proper care from a haemophilia team sooner. Just prior to having a child is too late to find out.
“If you have symptoms, and especially a family history of a bleeding disorder, I would urge you to demand to have your factor levels checked at a haemophilia centre where they will have the expertise to diagnose you and support you, whatever your age. Now, if I need an operation or a tooth removed, I’m offered factor treatment as a precaution, and I can be prepared. The care that me and my family receive from our local haemophilia centre is amazing, and I’m very grateful for that support.”
As well as four sisters who are genetic carriers of haemophilia B, Sonya’s daughter is a carrier, as well as some nieces. Her son also has haemophilia B, and his love of sports has been a challenge which fortunately, Sonya says, his haemophilia team have worked really hard to support.