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2nd December 2020 Latest News Rare Diseases

Australian-first guide for rare diseases

Rare Find Foundation launch

Supporting those diagnosed with Tay-Sachs and Sandhoff Diseases.

An Australian-first resource for families, carers and the medical community supporting those diagnosed with Tay-Sachs and Sandhoff diseases has now been launched by the Rare Find Foundation, thanks to funding from The Hospital Research Foundation.

The hardcopy and online guide fills a critical information gap and will provide families with crucial support.

Tay-Sachs and Sandhoff diseases are rare neurological conditions and those affected will suffer a relentless deterioration of mental and physical abilities, and in most cases, will not live past the age of four.

There is no current cure.

“As the diseases are rare, there is limited high-quality information available publicly, particularly specific to the Australian context,” says Rare Find Foundation Founder and Chair, Anna Pak Poy.

“This initiative has been developed with the experience of families and carers at the forefront.

“Sadly, up until now, it is common for families to have to source and filter information themselves which is distressing, confronting, time consuming and often very misleading.

“We aimed to overcome this by obtaining comprehensive information from a range of reliable sources including medical experts, allied health and social support providers.”

Among these sources is Dr Nicholas Smith, Head of the Department of Neurology and Clinical Neurophysiology at the Women’s and Children’s Hospital.

“[This is] a truly valuable tool for Australian families impacted by GM2 Gangliosidosis,” Dr Smith said.

“The publication delivers a sensitive and practical reference to assist families throughout the course of a most difficult, complex and overwhelming journey.”

By design, much of this information is transferrable to the disease journey for other pediatric chronic illnesses, some of whom may not have a formal diagnosis of a known condition, or may not have access to a charity related to their diagnosed disease.

The hardcopy guides are designed thoughtfully, with separate booklets to support flexible use and to allow families and members of the care and support network to explore these issues at a time they are ready to do so.

The online resources contain more extensive content than the hard copies, and can be accessed at the Rare Find Foundation website:

The Rare Find Foundation received a grant from The Hospital Research Foundation earlier this year to contribute to the creation of this vital resource.

Rare Find Foundation was founded in 2019 by Anna Pak Poy and husband Marc Coupar following the passing of their son, Sebby, who was diagnosed with Tay-Sachs Disease and passed away at only 22-months.

Fast facts

  • There is no current cure and funding for research is needed for lifesaving treatment
  • The most common form of Tay-Sachs is infantile, where children have a life expectancy between 1.5 years to 4 years
  • There are also Juvenile and Late Onset forms, both also have no cure
  • Carrier frequency varies between 1 in 27 to 1 in 250 depending on ancestral background
  • Incidence Rate is 1 in every 180,000 births
  • These conditions are Lysosomal Storage Diseases. There are 70 known Lysosomal Storage Diseases. The incidence rate of Lysosomal Storage Diseases is 1 in 5000 which mean together, these are a lot more common
  • Tay-Sachs and Sandhoff Diseases are included in a larger group of around 70 neurodegenerative conditions known as ‘Childhood Dementia’
  • The Rare Find Foundation Guide launch event will be held on Tuesday 1st December from 10.30am – 12pm at Ayers House, North Terrace.