Jill Hall (Shortland, Australian Labor Party) Share this | Link to this | Hansard source

Rare diseases are life-threatening or chronically debilitating diseases with an estimated prevalence of one in 2,000. In Australia, 10 per cent of our population is directly affected by one or more of 800 diseases. Of those people, 400,000 are children. Collectively, that is about 1.2 million Australians with a rare disease, which is the same number of people as those affected by diabetes. But there is a difference. Diabetes is one disease. There is one disease that you need to research. There is a critical mass of people with that one disease who can then influence the decisions of government, whereas, when you have a number of small diseases with very few people who are affected by each disease, their voice is small. Pompe's disease is one that comes to mind. There are many motor neurone diseases, and there are types of cystic fibrosis that have very small numbers of people who are affected by them. And, because there is no critical mass, the research into those diseases, the treatments and the drugs that are needed do not eventuate.

Because these diseases are so rare, and because collectively they are so uncommon, it does impact on people. There is an inadequate rate of diagnosis. A person will go to a doctor with a set of symptoms and, because the disease is so rare, it often takes a very long time before a diagnosis can be made. The diagnosis and management—an early diagnosis, in many cases—is really important so that the disease can be managed. For most people with a rare disease, to actually have a diagnosis is a major achievement. In developed countries, 60 per cent of individuals with intellectual impairment do not have a diagnosis.

Establishing a diagnosis for patients with rare diseases provides an answer for families, guides management and enables accurate genetic counselling for family members. Identifying a genetic basis is the first step towards understanding biological pathways and developing targeted treatments. Only a minute proportion of people have a therapeutic option. Individuals with rare diseases often require complex management and multidisciplinary services. Access to evidence based information, education, expert opinion and continuity of care is very limited in Australia.

Only 3.5 per cent of rare diseases are coded by the current ICD—that is, the International Classification of Diseases. Poor codification and surveillance mean that this group of Australians is invisible to government. Inadequate epidemiological data leads to an inability to study burden of illness at a personal, community and economic level, and this inadequate data also reduces the patients' recruitment into research studies. The full extent of research in Australia is unknown, although some patient registers, biobanks and sequencing projects are in operation in research silos.

There have been a number of responses by governments around the world. In the US, there is the Orphan Drug Act, and Singapore and the EU also have orphan drug acts, but the bottom line is that there is a lack of knowledge. The bottom line is that we need to know more about the people who are living with a rare disease. The bottom line is that I believe that there needs to be a register. A national register of rare disease should be investigated, and I strongly support its establishment. I would also like to congratulate all those who have been involved with the research and those people from Rare Voices Australia who attended the first International Rare Disease Research Consortium this year. This is an important issue and should be supported by the House.

Ken Wyatt (Hasluck, Liberal Party) Share this | Link to this | Hansard source

I rise to add my support to the member for Shortland's motion to raise awareness about the challenges facing those people in Australia suffering from rare diseases. What many Australians may not realise is that approximately 1.5 million Australians, or 10 per cent of our population, suffer from one of 8,000 rare diseases. In Australia every single rare disease is represented within our population, and for these 1.5 million Australians the future is looking extremely bleak.

Unlike those Australians who suffer from more common diseases, rare diseases are not only not commonly known by the general public but they are also not well understood by the medical fraternity. Rare diseases are difficult to diagnose and the average time to—

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Rare diseases are difficult to diagnose, and the average time to diagnose a condition is 10 years. This is compounded by the lack of medical specialist consultants. Many general practitioners are left to attempt to navigate the murky waters of rare diseases, making guesses as to the cause of the symptoms and their association with the rare disease. There are so few of these cases that there is little opportunity for medical advancement towards recognising the causes, developing cures or understanding the implications for the individual. For those suffering from a rare disease that is understood, there remains little or no support from governments and communities to help them cover the exorbitant costs of medications.

Australia is some 30 years behind the rest of the world in a healthy policy in this area. We are the only country without a national plan or register for individuals suffering from rare diseases. It is little wonder, then, that these individuals feel isolated or let down by their own government. Some countries have legislated to recognise rare diseases and provide treatment for citizens. For example, the United States has enshrined into law the Orphan Drugs Act, which grants special status to a product to treat a rare disease.

As we know, the treatments for rare diseases are often complex, and many rare diseases do not have a medically accepted adequate treatment. It is time that Australia catches up with the rest of the world and begins to take appropriate care for the 1.5 million Australians who live with a rare disease. It is time that we have a national register and a national plan for rare diseases. It is time that we plan to ensure that individuals living with rare diseases have access to the very best medical care as well as the best emerging treatments, such as the opportunity to be involved in national and international clinical trials.

It is for these reasons that I would like to commend Rare Voices Australia. Rare Voices Australia is the first national organisation that has been advocating for individuals living with a rare disease. Rare Voices Australia works not only with government but also the research community, medical physicians and the broader public to raise awareness about rare diseases and to fight for better outcomes for those suffering from them. Rare Voices Australia provide a support network for families, friends and carers of those with a rare disease and work hard to improve the quality of life for sufferers and those around them. It is due to the work of Rare Voices Australia that the key policy makers in parliament are beginning to understand the plight of individuals living with a rare disease and searching for better ways for our health system to accommodate them.

Part of the challenges that we as policy makers face is identifying ways to encourage the development of life-saving drugs to treat rare diseases. Unfortunately, many of these vital medications do not have the investment of time or research, simply because they do not have the critical mass of support, due to the limited number of individuals with the disease throughout the world. These medications, commonly called 'orphan drugs', are not cost-viable to pharmaceutical companies and require additional support to ensure they continue through development and testing. The difference, however, that these medications can make in the lives of those with rare diseases is incredible. In order to support the development of these medications, and encourage the availability to individuals with rare diseases, the Orphan Drug Program was established in 1998. It is a long, arduous process for medications to be made available under this program.

I hope that Australia is proactive in looking at some of the solutions and optional treatments for those living with rare diseases so that they may enjoy the same quality of life that we take for granted on a daily basis. Often, it is not until we know someone with a rare disease that we have an understanding of the challenges they face, their families face and often siblings—brothers or sisters—with a rare disease face. I commend the motion of the member for Shortland.

Chris Hayes (Fowler, Australian Labor Party) Share this | Link to this | Hansard source

I would also like to thank the member for Shortland for giving us the opportunity to discuss the challenges faced by individuals and families living with rare diseases. Each rare disease, by nature, affects a small number of individuals; but combined, they impact on a large number of people in our community—in fact, there are more than 8,000 rare diseases currently known.

In Australia alone 1.2 million people are affected, including 400,000 children. If we consider the carers and the families of all those individuals we come to the conclusion that the majority of Australians, in some form or another, are affected by these rare diseases—yet there are many instances where, due to the rarity of certain illnesses, people fall through the cracks when it comes to government support. One such case concerns a three-year-old girl, Olivia Toole, one of only 30 sufferers of what is known as Phelan McDermid syndrome. Phelan McDermid syndrome is a rare genetic disorder caused by a micro-dilution on chromosome-22 in the human genome, which plays an important role in the brain development of infants. The diagnosis of the syndrome was not made possible until 1999. Until then, many cases were thought to be sufferers of autism or similar, showing similar symptoms. Three-year-old Olivia's symptoms are in a lot of ways very similar to those of children with autism. She has not acquired speech, she suffers from seizures and pneumonic episodes and has been hospitalised so many times in her short life. Olivia's mother, Megan, is known to me because she went to school at St Thomas More with my youngest son, Jonathan. I know that Megan and her husband Andrew have invested much in terms of Olivia's health, and I have been impressed by what they have done to promote the issue of Phelan-McDermid Syndrome for other families living with sufferers of that disease.

Early intervention, as with anything else, is a very important part of dealing with this syndrome. To get early intervention support, sufferers must have a disease that falls within the regulative framework, and unfortunately Phelan-McDermid Syndrome does not fall within that framework. The families go through the same struggles as anybody else with the high cost of treatment therapies, medications and other expenses. In young Olivia's case, this emphasises what can happen when a child falls through the cracks.

I would like to congratulate the work and praise the efforts of Rare Voices Australia, a national organisation assisting families, friends and carers impacted by rare diseases. They are a very strong advocate for the many individuals whose voices deserve to be heard.

A little time back, I used the opportunity to raise awareness of another lesser-known illness affecting many Australian families called spinal muscular atrophy. SMA is a leading genetic killer of infants under two in Australia. It is a rare genetic motor neurone disease causing progressive deterioration of motor neurones in the spinal cord. One in 35 Australians carry the recessive gene and 55 Australian infants die from this disability each month. I am always amazed at how people who go through the toughest times find the strength to assist others in similar situations.

I spoke about Megan O'Toole and what she is doing in relation to her daughter's disease. I would also pay tribute to Julie Cini, the CEO and founder of the Spinal Muscular Atrophy Association of Australia, who lost two daughters to SMA and who is using her experience to assist others—as is my cousin, Tamara, who sadly lost her daughter Summer in 2010.

What this shows is that there are many people who fall through the cracks, but fortunately there are good people who will do everything they can to ensure that they can protect fellow members of the community. (Time expired)

John Alexander (Bennelong, Liberal Party) Share this | Link to this | Hansard source

A rare disease is a highly uncommon condition which individually affects fewer than one in 2,000 Australians. However, collectively these diseases affect between six and eight per cent of the Australian population and damage the livelihoods of patients, their families and the community at large.

I thank the member for Shortland for bringing forward this motion; however, discussion on this issue must recognise that the federal government has failed to provide relief for the thousands of Australians suffering from chronic and debilitating rare diseases. Changes to the Life Saving Drugs Program have made it increasingly difficult for potentially life-saving drugs to satisfy the listing criteria for the Pharmaceutical Benefits Scheme. These changes have put crucial treatments, which can cost up to half a million dollars per year, further out of reach for most Australians. The strictness of this new program has been heavily criticised by health professionals. Despite this, the changes continue to deprive patients of access.

National plans for addressing rare diseases are already in place in many countries around the world. Australia can draw on significant overseas experience, particularly in Europe, where national rare disease plans exist in 11 countries and are in development in all other EU member states. Indeed, Australia is currently trailing well behind these nations in our support of rare disease patients and their families. The member for Shortland has flagged the need to promote medical research progress in the field of rare diseases.

Investing in the benefits of a national rare disease registry in Australia would provide an important step forward in the way the government deals with rare diseases. A national registry could provide vital support networks for patients and specialists of rare diseases. It would help connect specialists in Australia with those around the world and facilitate the exchange of knowledge and expertise. It would encourage the development of guidelines and referral networks designed to help patients receive timely diagnosis and the right care for their condition.

Australia's current approach to rare disease management has failed to encourage early diagnosis of many chronic conditions. Diagnoses of rare diseases can take up to 10 years in some cases, meaning by the time of accurate diagnosis, the patient's disease is well advanced and often more difficult to manage. To address this critical issue the government should broaden the scope of its investigation and begin measuring the benefits of strategies such as compulsory population screening for newborns. This would encourage early diagnosis of rare diseases and ensure that patients have access to effective and timely treatment. Currently, undiagnosed rare diseases result in the chronic debilitation of patients and significantly burden public health in Australia. Early detection and treatment can often stall the onset of debilitating symptoms.

Population screening may well deliver significant cost savings to the community by avoiding this public health burden. Other initiatives in this area could help address the lack of access to care and support for patients by tackling low awareness of rare diseases and the fragmented provision of services in this field. New strategies could help to ensure that more rare disease patients receive the right care, and that government resources are being used effectively. Indeed, in September last year, my colleague the member for Goldstein criticised the current government's ineffective response to rare diseases and continuing deferral of access to medical treatment for patients. He blamed the government's financial mismanagement for putting life-saving treatments further out of reach for Australians suffering from rare conditions. Yet despite this government's failure, advocates and businesses around the country and the community at large continue to do great things for patients suffering from rare diseases.

I praise the efforts of several companies in my own electorate of Bennelong for the incredible work they do in this field. Companies such as Genzyme, who have pioneered the development and delivery of transformative therapies for patients affected by rare and debilitating diseases for over 30 years, continue to advocate for the recognition of rare diseases and the implementation of policies to facilitate better treatment and support. I acknowledge the efforts of these groups and encourage this government to broaden the scope of its investigation into avenues for addressing rare disease management in Australia. Only by investigating all the available options can we begin to truly begin to alleviate the suffering of thousands of Australians and their families and provide the support they deserve.

Geoff Lyons (Bass, Australian Labor Party) Share this | Link to this | Hansard source

I rise a today to speak on the motion proposed by the member for Shortland regarding rare diseases. Rare diseases are often chronic and complex, requiring many different specialised health services and community support. They are defined as a condition, syndrome or disorder that affects one in 10 000 people or less. There are more than 8,000 known rare diseases. Eighty per cent of rare diseases affect children and most begin in childhood and continue throughout life. Although each disease is rare collectively, they affect up to 10 per cent of the population.

Neurological and intellectual disabilities occur in about half of all cases, regardless of disease type, and lead to loss of independence and opportunities. Obtaining a diagnosis is often difficult and delayed, and many have no cures. Trying to find an underlying diagnosis for many conditions can be a very long and frustrating experience. With particularly rare conditions, a diagnosis can often take many years. Rare diseases are characterised by a large number of broad and diverse disorders and symptoms that vary not only from disease to disease, but also within the same disease.

According to the Steve Waugh Institute, 80 per cent of rare diseases have identified genetic origins while other rare diseases are caused by infections, allergies, chemicals or radiation or a combination of environmental and genetic factors. Statistics show that rare diseases often begin in childhood, continue throughout life, are disabling and life threatening. Families and carers of children with rare diseases experience significant psychological stress due to stigmatisation, social isolation, unemployment, diagnostic delays, lack of information and difficulty accessing appropriate health care. The impacts of rare diseases go beyond affected individuals. There are wide-reaching impacts on families, carers, health professionals, health resources and the wider community.

For all rare diseases, research can provide some answers. Many rare diseases can now be diagnosed through a biological sample test. Researchers are increasingly working through networks in order to share the results of their research and to advance more efficiently. In Australia there is a general lack of awareness of the impacts of rare diseases and in the past there was a lack of strong and coordinated advocacy. However, Australia is in an excellent position to learn from extensive international initiatives. The Australian Paediatric Surveillance Unit convened the National Rare Diseases Task Force to develop, seek wide endorsement and advocate for the implementation of a national plan to support research, education and service development and to promote awareness of rare diseases. They also provide advocacy for affected individuals and their carers. I wish them well in their endeavours. Organisations representing sufferers and their families, health professionals and researchers are excellent advocates for rare diseases. In rural and regional areas, however, these organisations are less accessible.

We know that early and accurate diagnosis and appropriate management will reduce the costs and morbidity associated with rare diseases and will enable prevention. As I have said in this place many times before, the only way to get good results for an efficient price in health is to do it right and to do it early. Rare diseases pose a challenge to people working in primary, secondary and tertiary health settings. For many rare diseases standardised diagnostic criteria do not exist, which leads to delay of treatment. Investigations and diagnostic delays of a year or more are common.

The National Rare Diseases Working Group convened by the Australian Paediatric Surveillance Unit have stated that families affected by rare diseases need accurate, accessible and locally relevant information about rare diseases including descriptions of signs, symptoms and prognosis, and opportunities to access educational courses and other educational resources. These are available but they need proper access.

I thank the member for Shortland for putting this on the agenda. It is important. I would also like to thank the people who assisted one of my constituents with a rare disease in obtaining life-saving drugs at a reasonable price.

Jane Prentice (Ryan, Liberal Party) Share this | Link to this | Hansard source

I rise to speak on the member for Shortland's motion regarding rare diseases. As the motion notes, approximately 10 per cent of the Australian population is directly affected by one or more of 8,000 rare diseases, of whom 400,000 are children. In total there are as many as 1.2 million Australians with a rare disease, the same number of Australians affected by diabetes. With a large number of diseases which individually only affect a small number of people, advances in medical treatments have been slow for three reasons: firstly, pharmaceutical companies have no market on which to base investment in treatments; secondly, health authorities do not deem them a public health issue when compared to other more prevalent diseases; and, lastly, the rarity of a disease means rarity of data, which can preclude the medical community from conducting research.

These diseases often mean a life cut short, all the while relying on expensive therapeutic treatment, if a treatment does in fact exist. One of those affected is Doug Wheller in my electorate. In 2009 he was diagnosed with Pompe disease, a disease so rare it affects only 25 people in Australia. After suffering a near fatal heart attack Doug has relied on a drug called Myozyme, which has been provided to him under a compassionate access scheme operated by the pharmaceutical company which manufactures the drug. Unfortunately, the Pharmaceutical Benefits Advisory Committee has continued to reject providing support for people like Doug to access life-saving treatment and the compassionate access scheme is closing to new patients, which could have a disastrous impact on these patients and their families.

Pompe disease is just one of the 8,000 rare diseases from which Australians can suffer, but Doug's story draws attention to the incredible difficulty that they have in gaining appropriate recognition and support from the government. However, the research community is finally making inroads into learning more about rare diseases, of which approximately 80 per cent are genetic in origin. These diseases are further complicated by the fact that genetic mutations vary by location and can occur across the entire human genome, making their origin very difficult to detect.

Very important research in this area is being undertaken at the University of Queensland, particularly at the Institute for Molecular Bioscience. In October last year, Dr Ryan Taft was awarded a University of Queensland Foundation Research Excellence Award after analysing the genome of Massimo Damiani, a toddler suffering from Leukodystrophy. With that grant, Dr Taft and his global team of researchers were able to conduct genomic sequencing of Massimo and his parents, and in turn, successfully identify the gene behind this genetic disease. This is a crucial step forward in being able to identify where and why genetic mutations have occurred, and is potentially a stepping stone in devising therapeutic interventions. As Massimo's father said, 'Although there is currently no cure for leukodystrophy, achieving a diagnosis gives us hope. It is the vital first step to one day developing a treatment for Massimo.' Dr Taft's goal is to dramatically reduce the number of unresolved cases of rare genetic disease in children. As Dr Taft said, 'This is the future of medicine—doctors, including clinical specialists like MRI experts and genomics researchers, working together to diagnose and develop treatments for people with unknown diseases.'

I recently had the opportunity to hear from Professor John Mattick, Director of the Garvan Institute of Medical Research, and Geoff Dixon, Chair of the Garvan Research Foundation. As the medical community continues to improve in genomic mapping techniques, so does the ability to predict how one's genes are expressed and whether someone may one day suffer from a rare disease. The medical community may only be scratching the surface, but advances in genomic mapping help us understand diseases where a genetic element is likely to be involved, such as schizophrenia.

If we know this information, it does raise very serious legal questions, in particular whether insurance companies can discriminate against pre-existing conditions based on data from genetic testing. Future parliaments will no doubt be required to consider their role in this area—although such considerations may come sooner than we think.

Lastly, I want to congratulate Rare Voices Australia and all those Australians who participated in the world's first International Rare Diseases Research Consortium, held this year in April. This consortium has highlighted the amazing results that are possible with truly global cooperative research. I am heartened that these advances in medical research promise a much brighter future for rare disease patients. I commend the motion of the member for Shortland.

Debate adjourned.