Modern Australian

What is a rare disease? It's not as simple as it sounds

  • Written by Yvonne Zurynski, Associate Professor of Health System Sustainability, Australian Institute of Health Innovation, Macquarie University

If you have a rare disease, you may be the only person in Australia with that condition.

You may not know, however, that being diagnosed with a rare disease means you are part of a community of up to two million Australians with one of these conditions. And more than 300 million people globally.

Read more: When you're sick, the support you'll get may depend on the 'worth' of your disease

Today, health minister Greg Hunt announced Australia will have its first National Strategic Action Plan for rare diseases.

This action plan will harness the power of rare disease advocates, patients and families, clinicians, researchers, peak bodies, industry and government to improve care for people with rare diseases.

What is a rare disease?

A rare disease is one that is very uncommon. The most widely accepted definition stipulates a rare disease affects fewer than five in 10,000 people.

Rare diseases are serious, complex, usually chronic, often life-limiting and most have no cure.

We know of about 7,000 different rare diseases, most with a genetic origin. Many begin in childhood.

Rare diseases are often progressive — they get worse over time — and can be associated with physical or intellectual disability.

Examples of rare diseases are uncommon childhood cancers such as hepatoblastoma (a cancer of the liver), and other better-known conditions like cystic fibrosis and phenylketonuria (a birth defect that causes an amino acid called phenylalanine to build up in the body, and untreated can lead to intellectual disability, seizures and behavioural problems). Both are symptomatic from birth. Huntington’s disease is another, but only shows symptoms in adulthood, even though it’s inherited.

Read more: Explainer: what is cystic fibrosis and how is it treated?

What makes a rare disease so difficult to diagnose and manage?

For a person living with a rare disease, and the people around them, the journey to obtaining a diagnosis and receiving treatment can be difficult, complex, worrying, confusing and isolating.

Rare diseases are difficult to diagnose because individually they occur so infrequently, and symptoms can be very complex. My research and another Australian study show it can take years to get the final correct diagnosis. Most health professionals have never diagnosed or cared for a person with osteogenesis imperfecta, Fabry disease or any other of the 7,000 rare diseases.

Added to this, the onset of symptoms for a rare disease can occur anywhere between birth and adulthood, and diagnostic tests are lacking or difficult to access.

What is a rare disease? It's not as simple as it sounds Rare diseases are often genetic. Shutterstock

But diagnosis is only part of the puzzle. People with rare diseases typically need complex care from large teams of health professionals because with many rare diseases, several body systems are affected. Also, given the often-progressive nature of the condition, care needs can change — sometimes dramatically — over time.

Important questions also arise around life expectancy and what the risks would be if the person with a rare disease was to start a family. Would their children inherit the disease? Genetic counsellors can help with these sorts of questions.

Read more: No matter how you fund it, medical research is a good investment

Further, care is costly to families and to the health system. The cost of providing hospital care to just one child with a rare lung disorder who eventually needed a lung transplant amounted to almost A$1 million before the child’s ninth birthday.

The market for drugs for rare diseases, often called “orphan drugs”, is small. Although governments incentivise the pharmaceutical industry to develop orphan drugs, there are no effective drug treatments for most rare diseases.

In recognition that rare cancers and rare diseases traditionally lose out to more common diseases in terms of research, additional targeted funding has recently been allocated to boost research in Australia. In 2019 the NHMRC and the Medical Research Future Fund pledged A$15 million over five years for rare cancers, rare diseases and unmet need.

While a positive step, we are still lagging behind other countries. The United States, for example, spent US$3.5 billion (A$5.3 billion) on rare disease research in 2011.

What is a rare disease? It's not as simple as it sounds Rare diseases commonly progress over time. Shutterstock

What does the future look like?

The action plan recognises people with a rare disease and their right to equitable access to health and support services, timely and accurate diagnosis and the best available treatments. It aims to increase rare disease awareness and education, enhance care and support, and drive research and data collection.

Its roll out should lead to better outcomes for people with rare diseases and less worry and frustration for families. For example, access to care coordinators or care navigators could help guide people and families through our often-fragmented health, disability and social care systems.

Read more: Personalised medicine has obvious benefits but has anyone thought about the issues?

Recent advances in personalised medicine, where a person’s specific genomic make-up could be used to tailor specific medicines for that person’s particular disease, holds much promise for people with rare diseases in the future.

Genetic testing for critically ill babies and children is already resulting in faster diagnosis and treatment of rare diseases.

The action plan aims to build on and support the sustainability of these important developments.

If you or a family member has a rare disease, and you’d like more information, the Rare Voices Australia website is a good place to start.

Nicole Millis, CEO of Rare Voices Australia, co-authored this article.

Authors: Yvonne Zurynski, Associate Professor of Health System Sustainability, Australian Institute of Health Innovation, Macquarie University

Read more https://theconversation.com/what-is-a-rare-disease-its-not-as-simple-as-it-sounds-132251

NEWS

Delivery workers are now essential. They deserve the rights of other employees

Along with home delivery of groceries, pharmaceuticals and alcohol, demand for food delivery is booming. Services such as Uber Eats and Deliveroo have become essential to cafes and restaurants that...

For public transport to keep running, operators must find ways to outlast coronavirus

Minimising health risks has rightly been the focus of discussion during the coronavirus outbreak. This includes efforts to protect both frontline public transport employees and the travelling public. But we...

A major scorecard gives the health of Australia's environment less than 1 out of 10

Dave Hunt/AAP2019 was the year Australians confronted the fact that a healthy environment is more than just a pretty waterfall in a national park; a nice extra we can do...

Thinking like a Buddhist about coronavirus can calm the mind and help us focus

Sabine Schulte/Unsplash, CC BYThe coronavirus pandemic is challenging our health, work, family, food and fun. It’s also disturbing our peace of mind and forcing us to question our own existence...

Public gatherings restricted to two people and all foreign investment proposals scrutinised, in new coronavirus measures

No more than two people are to gather together in public spaces, and playgrounds will be closed in the latest restrictions in the coronavirus crisis.Meanwhile the government will now scrutinise...

Give people and businesses money now they can pay back later (if and when they can)

ShutterstockThe novel coronavirus sees Australia facing major unprecedented health and economic crises. The key to preventing a downward spiral of the economy is to avoid a collapse in incomes of...

Government says Australia's coronavirus curve may be flattening

The federal government says there are signs the coronavirus curve may be flattening in Australia.Scott Morrison told a Sunday news conference the rate of increase in cases had fallen to...

All Australians will be able to access telehealth under new $1.1 billion coronavirus program

Scott Morrison will unveil on Sunday a $1.1 billion set of measures to make Medicare telehealth services generally available during the coronavirus pandemic and to support mental health, domestic violence...

Hotel quarantine for returning Aussies and 'hibernation' assistance for businesses

All Australians arriving from overseas will be quarantined in hotels or other facilities under strict supervision for a fortnight, under the latest crackdown in the battle against the coronavirus.Announcing the...

how sharing your data could help in New Zealand's level 4 lockdown

New Zealand and much of the world is now under an unprecedented lockdown. Public health experts say this is the best way to suppress the spread of the virus. But...

What is orthohantavirus? The virus many are Googling (but you really don't need to worry about)

ShutterstockAccording to Google Trends, the top globally trending topic this week is “orthohantavirus”, as spurious sites claim it’s the next pandemic on the horizon.Take it from me: it’s not. This...

MyGov's ill-timed meltdown could have been avoided with 'elastic computing'

DAN PELED/AAPThese past few weeks have shown the brittleness of Australia’s online systems. It’s not surprising the federal government’s traditionally slow-moving IT systems are buckling under the pressure.On Sunday, the...

Popular articles from Modern Australian

Safety First: Tips & Tricks for Your First Road Trip8 Essential Woodworking Tools You Need in Your ArsenalThe Future of Gambling Sponsorship in Australia5 Common First Aid CoursesSafety Tips for Operating Your Wood HeaterANZ Access Advantage card reviewBeyond Beauty - 5 Ways Cosmetic Procedures Can Improve More Than Just Your AppearanceHow to Make Extra Cash From Your AssetsThis can help you regulate the temperature in your bedroomI’m A Nutritionist And This Is The Food I Eat EverydayHow To Get The Best Hotel Experience And Save MoneyTips for new driversSEVEN WAYS TO IMPROVE YOUR VISIONVampire: The Masquerade - Las Vegas free slot