A 52 year old woman describes a time, over 30 years ago, when she waited to hear the results of her infant son’s testing for haemophilia. “It was the worst time of my life. I cried all the time. I couldn’t sleep. I felt so guilty knowing I might have passed this bleeding disorder onto my child”.
Her younger brother had been born with haemophilia, and although there had been no family history, she knew there was a possibility that she and her sisters were carriers. At that time, however, no carrier testing was available, and women simply took a chance and hoped that their sons would be free of haemophilia.
Things have come a long way since then. Carrier Testing is now widely available. Products are safe, home treatment is a matter of course, and prophylaxis gives greater control of haemophilia, allowing people with haemophilia to have more choices. However, when it comes to carriers, mothers still worry about passing on the haemophilia gene to their children, have feelings of guilt when it happens and despair about having a son with haemophilia.
There is a saying that “knowledge is power”, but there is also a saying that “ignorance is bliss”. Women who know they are carriers of haemophilia have knowledge, but stress and worry still come with knowledge. They would have previously perhaps seen male relatives suffer or even die from haemophilia.
Women who are potential carriers face tough choices. Some may simply not want to know, choosing instead to take a chance and see what happens. Others want to know as soon as they realise there might be a possibility that they might carry this gene. Parents of a son with haemophilia may want to get their daughter carrier tested right away to find out if she is a carrier, and what her factor levels are, which in turn helps to determine if she might have a bleeding disorder of her own.
People cope in different ways when they are faced with new information. This depends on age, reasons for seeking the test and on any previous experience they might have with the condition. Carriers can receive this diagnosis at a young age due to health problems, or as adults after the birth of a child with haemophilia in the family. A girl or woman can experience a wide range of emotions when she finds out that she’s a carrier. She may be afraid of what it will mean for her, her relationships and any children she may have. She may feel a sense of loss that she is different from everyone else and may even fall into a pattern of denial and refuse to acknowledge the diagnosis. When a son is diagnosed with haemophilia and there is no family history, parents also have to deal with the possibility that his sisters are carriers. Parents may feel like this is a second blow. A person’s decision to progress with carrier testing can affect the extended family. Genetic counsellors can provide suggestions on how to inform other at-risk female relatives such as sisters, daughters or nieces.