Deb and Pete consider themselves extremely lucky to have 5 amazing children: Callum (13), Georgia (11), Hunter and Angus (8), and Millar (3) – and all three of their boys have Haemophilia A. Haemophilia is not contagious – it is a congenital, inherited and lifelong disorder that their mother, as carrier, passed down to her boys. In Australia, haemophilia affects about one in every 10,000 males, and there is no known cure.
The diagnosis came out of the blue after Angus had a lumbar puncture for suspected meningitis. Although results showed he was negative for the virus, his wound site continued to weep for almost a week, and clotting tests showed he was extremely low in a specific clotting factor called Factor 8. Usually there is a 1 in 4 chance of other boys in a family inheriting the condition (and a 1 in 4 chance that the girls now carry the genetic alteration), however since Angus and Hunter are identical twins they are both sufferers, and further testing showed that Callum is a haemophiliac as well.
Haemophilia may be classified as mild, moderate or severe, depending upon how low the levels of clotting factor are for an individual. With low clotting factor, a haemophiliac will not ‘gush’ blood or bleed more than a normal person, but they may bleed for an extended period of time if they do not receive treatment. For shallow cuts, treatment can be as simple as applying pressure to the wound. In fact the biggest concern for sufferers is internal bleeding, which can happen as a result of injury, or spontaneously for no reason at all.
Most people with haemophilia can manage their condition by administering clotting factor every couple of days, and they can generally participate in all but the roughest physical contact activities. But in some cases, such as that of Hunter and Angus, the body develops inhibitors – meaning that the immune system views the treatment as an infection and fights it off, leaving them with 0% clotting factor. With no clotting factor, the boys cannot play sport or jump on their trampoline – they’re not even permitted to go outside at recess or lunch, as internal bleeding, especially into joints, can cause permanent damage resulting in disability, or may even be fatal.
In 2014 alone alone the family clocked up 106 days as inpatients in the haematology ward, and between them the boys have had seven surgeries and thirteen internal bleeds. Each surgery requires the child to be admitted to hospital for 48 hours before and after, during which time they receive 3-hourly infusions of a special clotting factor known as Novo-7. Deb has had to stop working to care for her children, and the family now struggles to survive on one income. Hunter has had a Broviac and two PICC lines, but after suffering five staph infections he now has a subcutaneous port. Every second day, his mother has to needle his port at home to administer his treatment, and Callum, the eldest, will soon be taught how to access his veins to administer his own treatment.
There is little support available for families, with only two specialist haematology nurses in Western Australia – one in paediatrics and one in adult care, and only a single social worker, who is not based at the children’s hospital.
Today, thanks to blood donors and advances in medicine, many children with haemophilia grow up with little risk of their bleeding disorder damaging their health, but the physical and emotional toll it can take on families is still extremely high. You can make a difference by supporting the Haemophilia Foundation of Australia’s Red Cake Day fundraiser, donating to the Haemophilia Foundation of Western Australia, or by volunteering with Communified’s Dial An Elf program to help reduce the burden on families.
This post is in support of Haemophilia Awareness Week.Share