Simon and Samantha Daff were in for a rude shock when they learnt that their newborn son Jackson suffered from metachromatic leukodystrophy, a rare condition. Their eldest daughter Mackenzie, 4, was diagnosed with the same diseases just weeks before.
“We went from not sleeping at all to getting the news — I haven’t slept as good as I did that night in a while,” Mr Daff said when they found some hope through a research program in Italy. The Perth based family is not alone in their suffering, there are more than a million people in Australia today suffering from such rare diseases.
A rare disease, as the name suggests is a chronic illness that is not widespread in the general population. Rare diseases affect only a small percentage of the population, but the incidence can differ in diverse populations. A disease is defined as rare when it affects less than 1 in 2000 people or 0.05 percentage of the population.
Typically, rare diseases are hereditary in nature and often worsen with time, making it life-threatening. The incidence of rare diseases increases due to infections, rare injuries, cancers, mental health disorders, and adverse effects of certain medical treatments.
- Complex and chronic
- About 10,000 rare diseases exists
- Around 8% or 1.4 million of the Australian population are affected by a rare disease
- Nearly 17% of the affected population are children
- Only 20% of rare diseases are due to infections, allergies and environmental causes, the rest are genetic in nature
Rare diseases can occur either right from birth or symptoms can start a little later. The common forms of rare diseases include auto-immune diseases, metabolic conditions, inherited malformations and some childhood cancers. Some of the rare diseases are cystic fibrosis, haemophilia, phenylketonuria, huntington’s disease, spina bifida and muscular dystrophy.
Ironically, rare diseases are not so rare in Australia. The number of people affected by rare diseases in Australia is same as the number of people affected by diabetes. As per a 2014 estimate at least 1.4 million Australians, i.e. nearly 8% of the population are affected by rare diseases. Of this, around 250,000 patients affected are children.
Life is not quite easy for these families living with the rare disease as the patients suffer in pain and their quality of life deteriorates. Other challenges include delay in diagnosis, lack of treatment options, financial burden and a dearth of multidisciplinary services.
Of late, however, rare diseases have received the much needed attention by the international community. The European Union has adopted a co-ordinated national plan for rare diseases, while the U.S. based National Institutes of Health (NIH) has set up an Office for Rare Diseases Research.
Though Australia has taken a few baby steps in this direction, a coordinated national plan to address the burden of rare diseases is still pending. Better access to information, an umbrella organization that can address research and funding needs, greater awareness among clinicians, families and teachers are some of the needs of the hour. However, the government of Western Australia has taken some concrete steps in this direction and has established a strategic framework for rare diseases.
There are a few organizations and support groups available for people living with rare diseases. Some of them in Australia are Genetic Alliance Australia, Genetic and Rare Disease Network (GaRDN), Centre for Genetics Education, Steve Waugh Foundation, Variety – The Children’s Charity. These support groups provide counseling services, networking with families and support services, educational resources, fundraising and medical services. Apart from these Europe based Orphanet and US based National Organization for Rare Diseases are also good resources to connect to.