Author: Sarah Cannata

Rare Voices Australia is advocating as its number one priority for Australia to adopt a National Rare Diseases Plan. Over the past two years extensive research and information has been gathered through national coordinating committees, international meetings, engagement with those from across the rare disease sector and detailed reviews of literature. This information was used to develop the Scoping paper on the need for a National Rare Diseases Plan as requested by the Australian Health Ministers Advisory Council (AHMAC) in 2011.

In 2014 Rare Voices Australia undertook a national Roadshow to progress a national plan for rare diseases. The Roadshow involved round table discussions with patient, healthcare, research, government and industry stakeholders, with sessions in Queensland, Victoria, South Australia, New South Wales and Western Australia. The discussions focussed on the need, barriers and drivers for coordinated action on rare diseases and for a National Plan.

The key findings from the Roadshow, which will be presented at the Rare Disease Summit, have determined the Summit focus and themes.
Four focus areas of the Rare Disease Summit include:

•      Current Initiatives to progress a National Plan for Rare Diseases
•      Data Collection and Use
•      Models of Health Care
•      Diagnostics, therapeutics, & Clinical Trials

Over two days, attendees of the Summit will listen to and engage with experts in these four focus areas of Rare Diseases.  Interested delegates will include Clinicians, Researchers, Industry Executives, Health System Planners, Health Policy makers, and Leaders of Patient Organisations.

Rare Voices Australia attended the public RightsTalk discussion – “Balancing the Scales of Justice” presented by Graeme Innes, Commissioner for Disabilities, at the Human Rights Commission, Sydney, Monday 16th June 2014.

Panel presenters included Mark Ierace SC – Senior Public Defender; Therese Sands – Executive Director of People with Disability; Denis Clifford AC – NSW Police and Jim Simpson – Senior Advocate for the NSW Council of Intellectual Disability.

Earlier this year the Commission released its report Equal before the law: towards disability justice strategies. The report focused on people with disabilities who need communication support or who have complex and multiple support needs and who have come in contact with the criminal justice system. Click here to read the report.

Graeme Innes says:

“Equality Before The Law is a basic tenet of human rights. But I have learned, both as an advocate and during my time as Australia’s Disability Discrimination Commissioner, that equality is not always available for Australians with disabilities in the criminal justice system. This report provides a snapshot of where that equality does not exist, highlights services and programs that improve equality before the law for people with disabilities, and sets some directions by which change may occur.”

Rhiannen Sugars wants people to know that February 28 is Rare Disease Day, a relatively new way of raising awareness of the many complex and mysterious medical conditions that each affect the lives of a small number of people.

A little under two years ago, the horse-mad, 24-year-old UC student was diagnosed with Ehlers-Danlos Syndrome (EDS), a connective tissue disorder with a long list of painful and debilitating symptoms including extremely loose joints, weakness and chronic fatigue.

Before that, all she and her family knew was that something was clearly wrong with her body, to the point where even walking was becoming difficult.

“When I was diagnosed a few years ago, my body was in crisis,” she says. “The condition had gone undiagnosed so it was basically out of control. For a while I was walking on crutches and I came very close to being in a wheelchair, because I was getting so unsteady on my feet it was getting dangerous.”

The diagnosis was a major turning point for Rhiannen that allowed her to start rebuilding the strength in her weak muscles and joints, and came from a stroke of luck that demonstrates how greater awareness helps people with rare conditions.

Her friend Dr Jacqui Desovski, in her final year of medicine at the time, saw a patient with EDS and noticed striking parallels with Rhiannen’s symptoms. Luckily, this happened just before she went to see geneticist Dr Mary-Lousie Freckman, who followed up the lead and confirmed it was indeed EDS, hypermobility type.

“In two years I’ve come a long way,” says Rhiannen. “It’s been a lot of hard work but each day you see improvements.”

After working on her strength through conventional physical therapy, she is now able to manage the condition herself. Fortunately, these days she can do that mainly by indulging her passion for horse riding. It’s an activity that gently exercises her muscles while her upper body is supported by the sturdy back of her mount, Chief, a resident of Forest Park Riding School in Curtin.

“Basically, horse riding is the reason I can still walk,” she says. “It’s really good that I can make [physical therapy] fun. When I’m working with Chief in the arena I’m not really doing physical therapy; I’m just riding. And even though I’m working a whole lot of muscles at once, it’s not as noticeable.”

Added together, there are more than 6000 rare conditions affecting about 10 per cent of any given population, according to Rare Disease Day organisers, amounting to more than 2.2 million Australians. This year’s theme is “Disorders without Borders”, which aims to foster international collaboration.

RVA Board Director Dr Tracy Dudding recently attended the Royal College of Pathologists of Australasia’s Pathology Update.

Professor John Christodoulou, a Director of the Western Sydney Genetics Program, Children’s Hospital at Westmead in Sydney, says that identifying rare, genetic (orphan) diseases has become a funding priority. In recognition of the importance of the need for equitable access to specialized genetic testing for patients, the Royal College of Pathologists of Australasia has been working closely with the Federal Government for the past 12 months to reach an agreed framework to tackle this critical issue.

“There are about 8,000 rare or orphan diseases, collectively affecting as much as 10% of the Australian population, and collectively have far reaching health, psychosocial and financial implications to the community. Moreover, with advances in cutting edge genetic technologies, new genetic disorders are being described on a weekly basis,” says Prof Christodoulou.

“Finding effective treatments has become a serious public health concern. Pathologists need to have access to the right technology in order to reach a diagnosis in the quickest, most efficient and most cost effective way.”

Many orphan diseases are inherited and are caused by mistakes in genes (mutations) which interfere with the normal functioning of that gene. Such changes in human cells and organs can play a role in the development of diseases and in their transmission from parent to child.

In the last five years, technology and the ability to analyse large amounts of data has become more advanced, however most DNA testing is not currently funded by the Medicare Benefits Schedule.

“We can now screen every single gene in the human body (the so-called human genome) using rapid and affordable sequencing technology. Currently, most DNA tests are either funded by State hospitals or by the patients themselves,” says Prof Christodoulou.

“It is vital that pathologists have access to this type of technology in order to have a better understanding of the genetic basis of a patient’s disease. This inevitably would lead to more accurate genetic counseling for families, and with a better understanding of the underlying biology of the disorder, access to more effective therapies and better personalized care,” says Prof Christodoulou.

The costs to patients for diagnosis, treatment, and other related expenses can be exorbitant. Increased funding would positively benefit patients, all of whom tend to share many common frustrations.

“Getting an accurate diagnosis can often take years, and patients often need to travel long distances to visit the few doctors knowledgeable about their illness. By speeding the diagnostic process up and making it more efficient, we can help to get patients off the diagnostic treadmill and find an answer to the problem, potentially avoid invasive testing such as biopsies,” says Prof Christodoulou.

British Prime Minister, David Cameron, recently earmarked $100 million to this area of medicine in the UK. He announced plans in December to introduce high-tech DNA mapping for cancer patients and those with rare diseases, within the NHS. The introduction will see up to 100,000 patients over three to five years having their whole genome (personal DNA code) sequenced.

“In the majority of cases, where there is a primary gene that is the cause of the disease, there is a real risk that multiple family members could be affected. By identifying the gene, we can begin to understand the biology behind the disease which helps parents and extended family members who are at genetic risk,” says Prof Christodoulou.

Dr Tracy Dudding is a Consultant Clinical Geneticist and is co-founder of Rare Voices Australia, which is a national alliance which represents the interests of all Australians living with a rare disease.

“Low prevalence does not equal low burden of illness. Rare diseases often begin in childhood, are disabling or life threatening and can be difficult to diagnose. For many of these conditions, there is no effective treatment. Families and carers of children with a rare disease often experience significant psychological distress due to complex medical problems, delayed diagnosis, social isolation, lack of information and difficulty accessing co-ordinated health care. Rare conditions are referred to as “health orphans” because they are neglected with respect to research,” says Dr Dudding.

The paradox about rare or ‘orphan’ diseases is that, collectively, they are not uncommon. There are thousands of identified rare diseases affecting about 350 million people worldwide. This includes six to eight percent of all Australians, which equates to about 1.2 million people. Yet diagnosis can be difficult, especially if there are perhaps just five other known cases of a particular disease in the world.

“Many parents or patients describe the ‘diagnosis odyssey’ which often involves telling their story over and over to many different clinicians,” explains Dr Tracy Dudding, consultant clinical geneticist at Hunter Genetics. “All they want is a diagnosis yet around 60 percent of individuals with intellectual disability remain undiagnosed while others have a delayed or inaccurate diagnosis.”

Rare diseases share a low prevalence of less than one in 2000. They are serious chronic diseases which are usually life threatening, and are often referred to as ‘health orphans’ because they are neglected with respect to research. About half of these diseases begin in childhood, and about half again involve neurological and intellectual disabilities.

Despite having different diseases, many patients face similar difficulties in their quest for a diagnosis, relevant information and proper direction towards qualified professionals. Dr Dudding says that while there may not be a cure, or even treatment available, a diagnosis is vitally important.

“Once people have a diagnosis they says things like ‘now I know that I didn’t do anything wrong’, ‘we can meet other parents’ and ‘now I have an answer when people ask what is wrong’. The importance of having a name for the disease cannot be underestimated.”

“One of my patients presented with severe intellectual handicap, seizures, brain malformations and incontinence,” she says. “He was also wheel chair bound and, because of overgrowth, weighed 80kg when he was 12 years old. His parents were in financial and emotional crisis because both of them had to give up work to care for their son.”

Families living with rare diseases are often in crisis, but there is some light on the horizon. New high output genetic technology may revolutionise the diagnostic process by outlining a genetic basis for these diseases, and potentially a therapy. Present estimates suggest that 80% of rare diseases may have an underlying genetic basis.

“The International Rare Diseases Research Consortium (IRDiRC ) is also working towards 200 new therapies for rare diseases, and the means to diagnose most rare diseases, by the year 2020,” says Dr Dudding. “But help is also needed now.”

Dr Dudding is a founding board member of Rare Voices Australia[1] which is a not-for-profit organisation established in 2012 to provide a unified voice for all Australians living with a rare disease. The New Zealand Organisation for Rare Disorders (NZORD) was set up in 2000, while orphanet[3] is the reference portal for information on rare diseases and orphan drugs for all audiences.

Without a diagnosis or treatment, patients living with a rare disease, or those caring for someone with a rare disease, can feel like the orphans of the health system. The pivotal role of genetics in the diagnosis, treatment and contribution to the understanding of rare diseases is yet to be realised, but it does give rise to a new era of hope for the millions of people affected by this collectively common plight.

New RVA supporter, Kath of Deer Park VIC, talks of her daily struggle living with a rare disease and the hope that RVA brings to her and her family.

The Brimbank mother was struck down with Guillain-Barre syndrome in August 2011.

Guillain-Barre is a rare auto-immune condition that results in a spreading paralysis. After a bout of bronchitis, Mrs Donaldson woke up one morning feeling like she’d been “hit by a bus.”

“I was really tired with pain all over my body,” she said. “The next day I felt better so I went to work, but the following day I felt worse.”

Within three days, her vision was blurry, and she could not feel her feet or walk down steps. By the end of the weekend, she was in hospital undergoing scans and tests. Doctors initially thought she had suffered a mild stroke, but after many tests, it was revealed to be GBS.

Her symptoms included tingling, severe fatigue, laboured breathing, and weakness. “I could no longer do all those little things we take for granted,” she said. “I was so used to being very independent, but suddenly I became dependent on everyone.”

Mrs Donaldson gradually built up her strength with physiotherapy, and despite numbness in the hands, her specialists have said she still may have another two or three years before she returns to normal – if at all. “I’m feeling much better though,” she said.

“You do go through a time where you think why me, but now I think I got GBS for a reason, so I could do something to bring awareness of it. “I’m feeling much better, and I’m up for the challenge.”

Mrs Donaldson has become a member of Rare Voices Australia, a new organisation which aims to represent Australians living with a rare disease.

She hopes to set up a support group in the western suburbs, and raise money for more research into the disease, of which little is known.