The family where not having haemophilia makes you the “odd one out”

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Haemophilia has always been a part of my life, and my family’s life – my dad Len has haemophilia and we grew up in an environment in which he chose not to let it dominate. Most of the time it didn’t alter his or our lifestyle choices, but the times he had a bad bleed it involved some real challenges for him and the rest of the family in managing the bleed and the subsequent recovery,” Julia said.

Julia’s boys are four and two-and-a-half, both with moderately severe haemophilia. Rebecca has one son, who is three-and-a-half, with severe haemophilia – but her youngest, who is not yet a year old, does not have haemophilia. Julia isn’t a symptomatic carrier so never had bleeding issues, while Rebecca can remember she would always bruise easily. “A few days before my first day of Year Seven, I’d been jumping on my sister’s bed and banged my eyebrow really hard and got a black eye. By the time my first day of school came around, the bruising had spread to the other eye, so I had two eyes in various colour shades. That was quite a challenge when I just wanted to blend in with the other kids!” recalls Rebecca.

She was also given some recombinant factor VIII  for a knee reconstruction as a precaution but doesn’t recall that her easy bruising was every a big issue for her.

Preparing for the possibility of haemophilia

Both girls were very open with their partners about haemophilia and their carrier status, and both partners responded in a very positive way. “For us my carrier status was not really an issue,” said Julia.

They both had genetic counselling before starting a family and both had the view that the process was not too difficult. “My dad has always tried hard not to let haemophilia change his lifestyle and he has remained physically active. He was a great role model,” said Rebecca.

“I do recall a sense of shock when we found out our first baby had haemophilia,” Julia said. “But I think the real sense of shock came from finding out our baby’s factor levels: less than one percent. We’d been told factor levels generally ‘run true’ in a family, and my dad’s levels were four to six percent, but I knew that less than one percent was classified as ‘severe’ and was something altogether different to ‘moderate’ haemophilia. However, since birth their levels have varied and, in fact, we’ve been very pleasantly surprised – both by our first boy and our second, who was also diagnosed as moderately severe – at the relative infrequency of their bleeds and their ability so far to live like normal toddlers.”

Rebecca had a similar experience of shock when finding out her son’s factor levels. “Having our first newborn was such a new experience, that this was just another thing in the mix to work out how to deal with (along with nappy changes, feeding etc etc!). Our short time living in the US with a child with haemophilia gave us a small insight into some of the challenges associated with health insurance coverage and the high cost of product. When our second son came back negative to haemophilia, it was a strange feeling. Of course we felt the relief that he wouldn’t have to deal with hospitals and needles and all the challenges along the way. However, it also felt a bit strange, as his big brother, two cousins and grandfather all have haemophilia, so in a way he’ll be the ‘odd one out’,” said Rebecca.

Facts about haemophilia

  • Haemophilia is a rare genetic bleeding disorder.
  • It occurs when blood doesn’t clot properly as there is not enough of a protein in the blood (called factor VIII or IX) that controls bleeding.
  • It is caused by an alteration in the gene making factor VIII (8) or IX (9).
  • Haemophilia is usually inherited, but a third of people affected by it have no previous family history.
  • It is incurable and can be life-threatening without treatment, which can help prevent repeated bleeding into muscles and joints that causes arthritis and joint problems.
  • Approximately 3000 people in Australia have haemophilia and most are male.
  • Both women and men can carry the haemophilia gene and pass it on to their children.
  • In the vast majority of cases the males with haemophilia in a family will have the same level of severity, but this is not always so.

source;http://www.kidspot.com.au/

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