Rare diseases are a major child health issue.
Although each rare disease is rare, as a group, they are common. Up to 10% of the population may have a rare disease. Rare diseases are often associated with pain, disability, uncertainty and early death. New information suggests that more than half of rare diseases start in childhood. This creates a large burden on children and their families very early in life.
To improve health and social outcomes for children and families living with rare disease, Governments must recognise that there is an unmet need. This need must be addressed with positive policy that allows the burden of rare disease to be recognised, and the best interests of these children to be met.
The United Nations Convention on the Rights of the Child (UNCRC) applies to children across the world. Rare disease can also impact any child or family regardless of their race, social status, abilities, or family history.
Even though each rare disease only affects a small number of people (often defined as one person in 2000), there are many rare diseases which means that across the world there is a huge number of people affected. Some estimates indicate that 6% and 10% of the population have a rare disease, and there is estimated to be 63,000 children living with rare diseases in Western Australia alone.
The total number of people affected by rare disease creates a global and universal health issue.
Ethical conflicts erupt for doctors as the Australian government overrides their clinical decisions for refugees. What happens to their medical ethics? What happens to their patients? This documentary exposes a medical system where the best interest of refugee patients is not at play and doctors fight back against this. The government says their offshore deterrence system protecting Australian borders will fall apart with the recent passing of the Urgent Medical Transfer Bill. How will this conflict be resolved when many lives are at stake?
Medical ethics is at the core of this powerful film as it lifts the lid on this issue by getting behind hospital doors and hearing first hand from the clinicians. The film will educate Australians and remind health practitioners of the ethics they must follow.
This year’s Fiona Stanley Forum, to be held on the eve of the expected Federal Election, will see the launch of @ARACYAustralia policy priorities for the next Australian Government. https://www.aracy.org.au/events/event/fiona-stanley-forum-2019
Progress in the area of Rare Diseases
Whilst children and their families living with rare diseases undoubtedly face enormous challenges, it is a time of increasing opportunity and convergence, in Australia and internationally. The current consultation around the National Rare Diseases Strategic Framework is particularly notable not only because of its great importance to the rare diseases community, but also because that consultation is being led by the community through Rare Voices Australia.
This month some notable international events occurred on a background of globally increasing recognition of rare diseases as a public health priority. At United Nations headquarters in New York, was the second meeting of the NGO Committee for Rare Diseases , established under the umbrella of the Conference of NGOs in Consultative Relationship with the United Nations .
At Microsoft New York Headquarters was a meeting of the Global Commission to End the Diagnostic Odyssey for Children with Rare Genetic Diseases. Both of these are a testament to the power of the united patient voice to drive partnerships for change.
The importance of addressing rare diseases initiatives in Indigenous populations has also been further emphasised recently, including with the endorsement of an Indigenous populations taskforce through the diagnostics scientific committee of the International Rare Diseases Research Consortium.
Also, there was the launch of Life Languages, in affiliation with the United Nations Year of Indigenous Languages. Life Languages is to retain and empower Indigenous languages and through this to help equitably transform (genomic) medicine and create connected communities. It has commenced through the first two Life Language Champions, Aboriginal medical students Yarlalu Thomas and Shamir Rind.
Professor Gareth Baynam
Clinical geneticist, Head Western Australian Register of Developmental Anomalies
ACAH Board member
26th February 2019
DONT FORGET - DFTB 19
DFTB19 is an acute paediatric conference, which will run in London. After two successful years in Aus, it’s time to come over to the other side of the world.
DFTB19 is run by the team at DontForgetTheBubbles.com, an award-winning and internationally recognised online resource that specialises in providing up-to-date medical education to the entire spectrum of clinicians caring for children. With a diverse audience from quaternary centre paediatricians to rural GPs, Don’t Forget The Bubbles provides a wealth of quality information for all-comers.
With the overarching theme of “The Journey”, DFTB19 will consist of three days of conference sessions, a Storytelling Event on Sunday 16th June 2019, a Welcome Reception held on Monday 17th June 2019 and a Party on Tuesday 18th June 2019. There will also be a full day of workshops on Sunday 16th June 2019.
Britain is broken: poor child health proves it
on total benefits, and long delays for the receipt of universal benefits. The dire situation was highlighted recently by a report from the UN Special Rapporteur on Extreme Poverty and Human Rights, Philip Alston, following a visit to the UK. The Alston report painted a dismal picture of working families struggling to make ends meet and relying on food banks for their next meal, a complicated and unwieldy benefits system, public services decimated in the name of austerity, and a government “in a state of denial” about the perilous situation. Government ministers meanwhile dismissed the Alston report. And when it was debated in Parliament earlier this month, only 14 Members of Parliament showed up, highlighting how little value the government places on the most vulnerable in society. Funding constraints have led to reduced budgets for public health services at a local level, with spending in 2017–18 on frontline public health services 5% less in real terms than that in 2013–14, with a further £85 million of funding cuts planned for 2019–20. Provision of public health programmes for children aged 5–19 years as well as mandated services for 0–5 year olds, specifically health visiting services, have been drastically cut back, leading to unacceptable variation in the quality and quantity of provision of child health services across the country. Cuts to public health spending do not reflect the health needs of the local population, and many disadvantaged areas with already poor health outcomes have seen substantial reductions in services. The RCPCH calls for an urgent analysis of the impact of the recent public health cuts on child health and a moratorium on further reductions until this has been done. With the threat of Brexit looming, an extended period of financial uncertainty for the country seems inevitable and the consequences for those living in poverty cannot be underestimated. The socioeconomic determinants of health in the UK are deteriorating. Britain feels broken. That one in three children is living in poverty in the world’s fifth largest economy is nothing short of a disgrace. Simply tinkering with plans and procedures will not improve the grim future that lies ahead for many children in the UK unless austerity measures and cuts to front-line public health services are reversed.