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Jane’s story – genetic testing for haemophilia

One of the main reasons women choose to have genetic testing for the altered gene for haemophilia is to find out if they can pass it on to their children. For many women, including Jane, this is a complex issue that can stir up a lot of different feelings.

‘I had been thinking about having a child, but was overwhelmed by the issues arising from my family history of haemophilia and the likelihood that I was a carrier. These issues were buried deep, and I felt that subjecting them to the light of day might unleash a tsunami of emotion and distress.’

Jane has one brother with haemophilia and a brother and a sister who are not affected. For Jane, discussing haemophilia with others would necessarily mean speaking about her brother.

‘I was talking about my brother’s life, and along with this perhaps my mother’s greatest achievement – my brother’s very survival and the maintaining of his health – and surely these were matters far too sacred to be adequately addressed in a mere “conversation”.’

Then a friend suggested Jane see a genetic counsellor to help her think through some of the issues and to learn about her options around testing and pregnancy. ‘Prior to that I had not even known such an avenue existed for someone like me.’

‘First I met with a clinical geneticist. I remember how carefully she listened to me and how comforted I was by her specialised support. Then I was referred to a genetic counsellor. I was able to express my grief for my brother and my parents and the years of worry and struggle to help and treat my brother. The counsellor was incredibly helpful and supportive. He talked to me about the choices I had regarding finding out my status, including whether I even wanted to undergo testing. We also talked about what I might do with or without test results.’

Jane decided to go ahead with testing and her brother agreed to provide his genetic information. This was used to look for the genetic alteration specific to her family. The same alteration was confirmed in Jane. Looking back, she has no regrets about getting tested. 

‘It was the only way forward. It is so much better to live with the reality than to not know. It was an essential step in arming myself with information so that I was ready to go ahead and have a child.’

Jane and her partner met with the genetic counsellor to discuss how the gene is passed on through inheritance and the choices they had, for example, with prenatal diagnosis. They followed this with a discussion with the haematologist and haemophilia nurse at the children’s hospital, to understand what the realities are for a child born with haemophilia today.

mother talking to daughter on bed - ketut subiyanto for

Jane now has a daughter. When she learned she was carrying a girl at the first ultrasound, ‘it was almost a shock, having done so much work to prepare for the possibility of a boy with haemophilia.’

Reflecting on her experience, Jane felt that the process of genetic counselling had a very positive effect on her life. 

‘There was no pushing, nor judgement of me or my relationship, the time it had taken me or the age that I was, only the calmest and most helpful support that I could ever have wished for. It left me feeling ready to embrace the future which was not something I could ever remember feeling previously. I believe that my daughter was literally born out of this new hope for life.’

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