No 188 December 2014
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Haemophilia - All in the Family (Personal Story)
Julia and Rebecca and their families are members of the Australian bleeding disorders community.
Two sisters, Julia and Rebecca, who both carry the genetic alteration causing haemophilia, tell their story of growing up and having families. Between them they have four sons, all toddlers - and three have haemophilia.
“Haemophilia has always been a part of my life, and my family’s life – my dad 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,” said Julia.
Julia’s boys are 4 and 2 years old, both with moderately severe haemophilia. Rebecca has one son who is 3 years with severe haemophilia – but her youngest, who is not yet a year old, does not have haemophilia.
Rebecca, Julia and their father
CARRYING THE GENE
Although both sisters carry the genetic alteration that causes haemophilia, they have each experienced this differently. Julia has never had any bleeding symptoms, while Rebecca has always bruised easily. She commented that generally this was never a great problem for her. The only time she ever had treatment product was when she was given some recombinant factor VIII (8) coverage for a knee reconstruction as a precaution. Bruising too was not usually an issue - except when she was about to start at a new school and didn’t know anyone else there. “A few days before my first day of Year 7, I had been jumping on my sister’s bed and banged my eyebrow really hard and got a bad black eye,” recalled Rebecca. “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 shades of purple, black, brown, blue and green. That was quite a challenge when I just wanted to blend in with the other kids!”
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.
Julia and Rebecca had genetic counselling before starting a family. Julia also had genetic counselling during pregnancy, “though we chose not to test our babies for haemophilia in utero – instead going into my labour prepared for the eventuality that our baby did have haemophilia, in case of birth complications.”
Rebecca commented that family planning issues were perhaps less complicated for them than the situation other parents might face. One reason related to their family experience of haemophilia. Their father has moderate rather than severe haemophilia and, while the home infusions, the trips to and extended stays in hospital have been a regular part of his life, he has also been very involved in sport since he was young. “My Dad has always tried hard not to let haemophilia change his lifestyle and he has remained physically active. This was a great role model – particularly for my husband who had no prior exposure to the condition. So my husband and I were of the view that we’d deal with whatever came,” explained Rebecca.
Understanding the advances in treatment in recent years has also made a difference. Their father is now dealing with the long term health impact of having haemophilia – “years of joint bleeds have left him with some bad arthritis which affects mobility,” noted Rebecca. He also has liver disease from hepatitis C acquired from his treatment before screening and viral inactivation was introduced in 1990. In contrast, their sons will have the advantage of prophylaxis treatment to prevent and manage bleeds and recombinant clotting factor product, which is genetically engineered, contains little or no human or animal material, and has not been known to transmit viruses.
“I think there’s a lot to be said for finding out as much as you can,” remarked Julia. “Without an understanding of haemophilia, the treatment options and what that means for the chance of living an ‘almost normal’ life, haemophilia can be quite daunting. But these days the prospects of a fulfilling and relatively pain-free life are really good and once you realise this, it’s easier to accept. A lot of people talk about the ‘guilt’ of passing haemophilia on in a family but I don’t view it like that. I (and I think my family too) have been accepting of haemophilia and remain hopeful that the recent advances in treatment will continue.”
For the sisters, the process of family planning and genetic testing was a very personal decision and one which they thought would be different for each woman or couple. “It’s your decision, take your time, do what you need to do, talk to whoever you need to talk to,” said Rebecca.
DEALING WITH DIAGNOSIS
Even after careful planning, diagnosis was challenging.
“I do recall a sense of shock when we found out our first baby had haemophilia,” commented Julia. “Perhaps it was simply that we always quietly hoped that the answer would be ‘no’ and the ‘yes’ immediately signalled a whole new reality for us (even if it was one that we had thought through in advance).
“But I think the real sense of shock came from finding out our baby’s factor levels: less than 1%. We’d been told factor levels generally ‘run true’ in a family, and my dad’s levels were 4-6%, but I knew that less than 1% was classified as ‘severe’ and was something altogether different to ‘moderate’ haemophilia. We were immediately put in touch with a paediatric haematologist and I remember the first few months in particular being quite scary as we tried to get a feel for the degree of our boy’s 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 initial factor levels, which were less than 1%. “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.”
Ironically, having a child that doesn’t have haemophilia has added a little more complexity to Rebecca’s family.
“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.
The recent World Congress in Melbourne proved to be a great environment for Rebecca to learn about the experiences of siblings who don’t have haemophilia and strategies for parents such as involving the siblings in treatment and care, helping to prepare infusions, and other ideas.
“Our little one is only 11 months now, so we’ll deal with this further down the track. In the meantime though, we’re all off to our first family camp later in the year so this will be a whole-of-family experience!”
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