Teresa Gambaro (Brisbane, Liberal Party) Share this | Link to this | Hansard source

I rise this evening to speak about rare diseases and to give my support to efforts towards the development of a national plan for rare diseases. Just over two weeks ago, on 28 February, people around the world recognised those with a rare disease and the impact on their families and carers and the medical staff who support, treat and care for them.

Now in its seventh year, Rare Disease Day aims to increase awareness of and improve care for people living with a rare disease. I was really fortunate to attend a Rare Disease Day in my electorate at the Wesley Hospital in Auchenflower, and I want to thank all those at the Wesley Hospital and the many from my electorate who attended. It was a very informative day and there was a very expert group of medical speakers as well.

I listened to Krissy Roebig and Peter and David Bissell talk of their experiences with rare diseases. Krissy, as a parent, has never given up on improving the lives of her children. Peter and David, who are adults, have not let their rare disease prevent them from living life to the full.

I was reminded that there is so much that is not yet known about rare diseases. Many people, and I count myself in this list, assume that a rare disease is likely to be something we have never heard about before—something strange and, most likely, very difficult to pronounce. But the truth is that it can be something we are quite familiar with. Cystic fibrosis is a condition that many have heard of before, but most people, when you ask them, would not think that that is a rare disease. But it is. So is Huntington's disease, for that matter, or mitochondrial disease, or muscular dystrophy, or even polycystic ovary syndrome. These are all rare diseases, and they are called that because these life-threatening or chronically debilitating diseases are statistically rare. According to the International Conference on Rare Diseases and Orphan Drugs, that means that rare diseases are those:

… with an estimated prevalence of 5 in 10,000 or of similarly low prevalence and high level of complexity that special combined efforts are needed to address the disorder or condition.

Put very simply in layman's terms, it means that, while the chances of one individual being the only person in the world to have a particular disease are low, it is not that uncommon for an individual to have a rare disease. In Australia it is estimated that 10 per cent of the population, which is around two million people, are affected by a rare disease. Few Australians would know that, with approximately one in 12 Australians being affected, they may have been closer to knowing someone with a rare disease than they originally thought.

Of particular concern is that close to 80 per cent of rare diseases affect children and, sadly, approximately 30 per cent of patients are dying before their fifth birthday. These are really harrowing statistics, made even more poignant when you hear the personal stories of the parents of children with a rare disease. As I listened the other day to Krissy Roebig in Brisbane talk about the day that she and her husband were told that one of her children was diagnosed with a rare disease and how it would affect their lives and the changes that they would have to make to their family's life, I felt my eyes start to well up, and most of the people in that room had their eyes well up with their personal story.

But it was not the tragedy of the story that affected me the most; it was how this incredible family just refused to give up. It was the sheer volume of love and determination to find a better life or even a cure first for one and later for two of their children. Krissy's story was one of harnessing that support and encouragement of friends and not accepting the prognosis. There was little she could do, but she could make a difference to the lives of her children and also to other sufferers of rare diseases. I thank her for her efforts in making sure that no other parent ever has to suffer alone. Her efforts on that are to be applauded.

It also highlighted the need to better understand not only diseases themselves but also the reason they are called rare diseases and what this might actually mean. For many who are told that they or a loved one has a rare disease, the first step is, 'What is the disease?' Even at this point, there are hurdles. A report into rare diseases by a working group of the Australian Paediatric Surveillance Unit in 2004 found that, while most rare diseases begin in childhood, one of the key problems is obtaining a definitive prognosis. This can be difficult, costly and time consuming. The report found that health professionals are often the ones that lack the health information and the resources. It was also found that families of sufferers experienced financial and psychological stress. Then, before we have even got it, there is the matter of the treatment. Some diseases require new, expensive treatments but, sadly, many rare diseases have no treatment at all. Despite the relatively low prevalence of rare diseases in the population, medical professionals will tell us that rare diseases have a high level of complexity. This means that special efforts and health resources are needed to treat patients and address the condition or the disorder. As the International Rare Diseases Research Consortium found, rare diseases do not attract much interest from pharmaceutical companies because the potential market is way too small. It is an age-old problem about demand and supply.

But in the last few years there has been a call for a national plan to support rare and orphan diseases. That would recognise the impact of rare diseases on individuals and their families and carers as well as on health professionals and resources. It would give people living with a rare disease access to diagnosis, awareness, treatments, services, coordination of care, research and information, and it would offer a comprehensive approach to rare diseases, paving the way for improved diagnosis and treatment, and contribute to the overall development of future public health policy. I am really happy to stand here today to support the progression of such a plan. It is estimated that there are more than 8,000 rare diseases, most of which are genetic diseases. Among other categories are rare cancers, congenital malformations, autoimmune diseases as well as toxic and infectious diseases.

It is a fact that we do not know quite enough about rare diseases, and that is what is at the heart of a push for a national plan. If you visit the Orphanet Australia web site, which provides an inventory and classification of rare diseases, as well as providing other detail, including about research and patient support groups, you can start to see the scale of rare diseases and the merits of pooling information nationally. We in Australia are the newest member of the Orphanet consortium. We are only the second country outside Europe to join the Orphanet global consortium to pool information resources on rare diseases. There is quite a way to go but, as in all things, making a start is the first step to achieving a goal.

I commend my colleague from Western Australia the member for Swan, who sits opposite me, for organising the day we had in parliament recently, which was attended in great bipartisan fashion by people from both sides of politics. I thank him particularly for organising the attendance of Megan Fookes, the Executive Director of Rare Voices Australia, a not-for-profit organisation established two years ago to provide a unified voice for Australians living with a rare disease. I was so pleased to see Megan, whom I had seen just a few days earlier in Brisbane. I commend Megan and her team on their ongoing work raising awareness and understanding about what a rare disease is and, most importantly, what it means to have a loved one of the rare disease.

I thank Krissy Roebig and Peter and David Bissell, who spoke at the Brisbane event and shared their stories. I have known Peter and David for many years, as have many hundreds of children who have spent time in Brisbane hospital. When they are not talking about their diseases they are known as Peebo and Dagwood, a pair of clowns who have turned their own experiences with the rare disease cystic fibrosis—and having spent considerable time in hospital—into a reason to spread cheer to others. They do it so well. They have not let a disease prevent them from doing the things that they love and they have lived their lives to the fullest. Krissy, Peter and David's stories and those of thousands of Australians with a rare disease increase our understanding about not just that rare disease but also the impact of the disease on the lives of carers and supporters and medical staff.

I encourage all members of the House to take the time to learn more about rare diseases and join with two million rare disease sufferers in Australia to improve outcomes for these sufferers, their families, their friends and the medical staff in their treatment and care.