LARA NICHOLSON
Lara Nicholson is Senior Social Worker at the Haemophilia Treatment Centres at the Queensland Children’s Hospital and the Royal Brisbane & Women’s Hospital, Queensland.
In Queensland both the paediatric and adult Haemophilia Treatment Centres (HTCs) have clinics that aim to identify haemophilia carriers among women and girls statewide through their family trees and genogram (diagram of family relationships).
WHAT IS A CARRIER?
In genetics all females who have the gene alteration for haemophilia are described as haemophilia carriers, because they ‘carry’ the gene alteration.
The paediatric and adolescent carrier clinic commenced in 2019 and continues to be run by specialist Nursing Practitioner Joanna McCosker. The paediatric and adult Queensland Haemophilia Centres work to identify and review possible and known carriers in collaboration with HTC Directors Dr Jane Mason and Dr Sally Campbell and their specialist nursing and allied health teams at the Royal Brisbane and Women’s Hospital and Queensland Children’s Hospital respectively. The adult HTC sees haemophilia carriers within the main haemophilia clinic and is regularly referred women for genetic counselling and testing.
Once a potential carrier is contacted or presents at the Centre, the HTC supports them to test their factor levels and begins assessment and treatment specific to their condition. For potential carriers a process of genetic counselling is undertaken, and genetic testing is done at a time that is right for the individual woman.
In Queensland we have shared leadership across the paediatric and adults HTC hospitals with excellent communication across sites. Clinicians at both sites can update family genograms, which improves identification and testing of carriers. We have a process of identifying haemophilia carriers through routine reviews after childbirth with haemophilia carriers who deliver a female and engaging that baby immediately with the paediatric carrier clinic as a possible carrier.
At other HTCs around Australia haematologists regularly see haemophilia carriers and our national colleagues are looking at ways to connect potential and known carriers to relevant testing and treatment pathways. The HTCs are also prioritising and building crucial relationships with genetics, obstetrics and gynaecology colleagues and looking at ways to develop a more female-centric approach.
Rebecca is a haemophilia carrier and recently delivered a baby boy up north in regional north Queensland.
When did you first know you were a carrier of a bleeding disorder?
I officially knew I was a carrier of haemophilia A when I was pregnant with my first child. That was my choice. I knew that it was a likely possibility for a long time before that, as both my brothers have severe haemophilia A and I personally was a bit prone to bruising.
How did you find out?
I first learnt about the possibility of being a carrier when I was 11. Growing up I always attended my brothers’ HTC outreach clinics and this particular year we met the HTC Director. He was the first one to explain what it meant to be a carrier. Up until that point I hadn’t considered how haemophilia could affect my personal future separate to my brothers. From that discussion I decided not to test myself until I was actually having children.
My GP was the perfect person to oversee my pregnancies because he also looks after my brothers and does a lot of obstetric work in our town. So as soon as I knew I was pregnant he tested my FVIII (8) protein levels so we could plan for the birth.
When has it been most relevant for you?
For me personally, knowing my carrier status has only been relevant for pregnancy but I have no medical history outside of that.
How did you prepare for your pregnancy?
Knowing the carrier status was useful when it came to preparing for the birth and we had a very well-planned labour. A lot was put in place before our son was born, which I thought was great. We did not know however that he was a haemophiliac until after he was born because I chose not to have any foetal testing. My husband and I felt that the risks did not out-weigh the benefit of knowing in our specific context and birthing history.
I often wonder if other carriers feel daunted by the conversation that their child may have a lifelong condition with their future partners? I felt it was such a vulnerable place to be, yet an extremely important part of preparing for pregnancy. I think it was valuable to my husband that he knew about it very early on in our relationship. I also tried to check in on him throughout the thick of it. Pregnancy, labour and fatherhood can be just as daunting for new dads let alone when there is all this other stuff to learn and consider.
I found that the challenge as a pregnant carrier in regional Queensland was planning for birth. Small town hospitals do not feel equipped to manage the birth in the event that something could go wrong. The convenience of birthing close to home is not an option. You need a large support network because for us it meant relocating before the due date – I stressed everyone out and didn’t move until 38.5 weeks and for reference my son was born 40 weeks 5 days, haha! The logistics of travel from my local town to the regional city had a lot of variables and the roads are in a terrible condition at the best of times let alone labour. And I had lots of people on standby to help with our daughter.
The personal stories of Rebecca and Leilani are only two of many unique stories belonging to Australia’s potential haemophilia carriers. What is apparent in their stories alongside existing HTC clinics running nationally is that haemophilia carriers may or may not be engaged with an HTC but can be linked in at any age with a systematic process of referral to start a conversation.
Even then, however, there are practical and understandable factors that influence if and when a haemophilia carrier has the appropriate factor level testing. Life is busy for any parent from the moment their child is born. Haemophilia being more treatable now also means the community are less connected to both each other and their Treatment Centres to share wisdom.
Unfortunately, many women who carry the gene alteration for haemophilia describe feelings of complex guilt for having children who are carriers or who have haemophilia and their capacity to engage with haemophilia generally can be traumatic for them.
Leilani is a potential carrier.
How did you know you might be a carrier of a bleeding disorder?
My family’s [previous] generations have haemophilia – like my pop who passed it down to my mum making her a carrier, making me a potential carrier of haemophilia.
What do you know about bleeding disorders?
Bleeding disorders include blood not clotting properly like haemophilia.
Who are the members of your family who have a bleeding disorder and what do they have?
My brother, grandfather and cousin have haemophilia
If you are a carrier, what do you need to think about for the future?
Be prepared for when I have a child and be extra careful when it comes to terms of them hurting themselves. I need to expand the safety of them and think about my bleeding disorder alongside surgeries for me.
In summary, the landscape has shifted significantly over time, prioritising the access of girls and women who are haemophilia carriers to clinics and testing and the focus remains on improving communication between adults and paediatric health services nationwide on this important topic.
If you or anyone you know thinks they or their child might be a haemophilia carrier, please reach out to your local Haemophilia Treatment Centre.
MORE INFORMATION
If you would like to know more about testing, treatment and care for girls and women in your state or territory, speak to your local Haemophilia Treatment Centre.
To find out more about haemophilia carriers and contact details for Haemophilia Treatment Centres in Australia, visit the Haemophilia Foundation Australia website – www.haemophilia.org.au.
Sign up for the latest news, events and our free National Haemophilia magazine