Monday, 22 October 2018
Private Members' Business
I congratulate the member for Calwell for bringing this motion. It really is very apposite. Last week, 7 to 13 October, was Bleeding Disorders Awareness Week, and it's very important that the Australian community is able to access the best treatment for these complex and fascinating disorders. Bleeding disorders are more than just haemophilia. You may be aware that newborn babies in most developed countries now get vitamin K injections to prevent what was a very severe and sometimes fatal bleeding disorder of newborns called haemorrhagic disease of the newborn due to vitamin K deficiency. Australia led the world in introducing this many years ago.
Haemophilia is a disorder that most of us recognise as the most significant bleeding disorder, but it's not the most common. Haemophilia A, or factor VIII deficiency, is the most common severe bleeding disorder. Its counterpart, haemophilia B, or factor IX deficiency, is rarer and generally less severe but can be quite severe. But the commonest bleeding disorder was mentioned by the member for Lyne: von Willebrand disease. There are over 200,000 Australians who have von Willebrand disease—usually fairly mild and unlikely to cause a problem unless there's severe injury et cetera but occasionally quite severe.
These disorders are genetic. Haemophilia A and B are what are called X-linked. In other words, the mutation's carried on the X chromosome. Females have two X chromosomes, so they don't express the disorder; males, who have one X chromosome and one Y chromosome, will express the disorder if the genetic abnormality is on their X chromosome, inherited from their mother—although some can be mutations. The English royal family were afflicted by haemophilia B—not A, but B. The defective gene was carried by Queen Victoria, and she caused several of her descendants to have severe haemophilia B.
I've looked after many kids with bleeding disorders, particularly the haemophilias and Von Willebrand disease. The treatment used to be essentially that of replacement therapy, using factor VIII in the case of haemophilia A when bleeding occurred, derived from pooled blood products. As the member for Lyne has explained, many of these children developed HIV, hepatitis B and hepatitis C. Thankfully we now use recombinant clotting factors VIII and IX. This is bioengineered; it's not from human blood products and is much safer. We now have treatments, very effective treatments, for hepatitis C.
The central problem with haemophilia though is spontaneous bleeding, often presenting not in the newborn period, but when a child first starts to mobilise, starts to walk. The usual story is you see a child coming in covered in multiple bruises but who is otherwise well when he's started to walk. Kids, as we all know, when they start to walk, they have lots of falls and get lots of bruising. Sometimes it's a pretty traumatic time waiting to get the blood test results when you see a child like this. Is it leukaemia or is it a bleeding disorder such as haemophilia?
A diagnosis of haemophilia is quite a difficult one, because these children have spontaneous bleeding often to their joints, and this can lead to a lot of scarring inside the joint and joint deformity. Many of the older people with haemophilia in particular are left with quite significant long-term joint deformities. These days we're much better at treatment. We offer prophylactic treatment to try to prevent bruising and bleeding, to prevent ongoing joint damage. And now, just around the corner, is gene therapy. This is a fantastic new treatment. There's a new medication called emicizumab, which is a gene therapy given subcutaneously on a weekly basis that can really prevent long-term damage. So it's a wonderful new therapy, which is just starting to become available. It's a wonderful new development that I'm very pleased to see. I hope that we can provide this treatment for our children with haemophilia in the future, and we'll prevent long-term damage. (Time expired)