THRF grant will help families of children diagnosed with rare incurable diseases.
Families of children diagnosed with rare incurable diseases will be at the forefront of an Australian-first support service backed by funding from The Hospital Research Foundation (THRF).
A $25,000 grant has been provided to the recently established Rare Find Foundation, aimed at caring for families of children with the devastating diagnosis of Tay-Sachs and Sandhoff Diseases.
Rare Find Foundation founder Anna Pak Poy explained that THRF’s funding will help produce online and hardcopy information resources, supporting roughly one in 180,000 Australian families who will sadly face this diagnosis for their child.
“There are no words to describe the pain and heartbreak of knowing that your child is facing a life-limiting condition with no cure,” Anna said, who in 2019 lost her 22-month-old son Sebby from Tay-Sachs.
“It’s a sad reality that Australian families given these devastating diagnoses don’t receive specific disease information. The lack of crucial information and support leaves families who are faced with the most traumatic event imaginable feeling isolated and ill equipped.”
“We are incredibly grateful for THRF’s support, arming us with the funds we need to rapidly develop this essential resource. It will have a tremendous impact on those affected by Tay-Sachs and Sandhoff diseases in Australia, as well as those in the broader Rare Disease Community.”
THRF has a strong commitment to both neurological conditions and end-of-life care, with CEO Paul Flynn saying the organisation felt it was necessary to play a role in supporting these families of children diagnosed with a life-limiting condition.
“At The Hospital Research Foundation, we believe everyone deserves someone fighting for their health,” Paul said.
“We feel strongly about collaborating with local charities who like us, are committed to making a difference in people’s lives at a time they need it most.
“Access to disease information, particularly when the diagnosis is so heartbreaking, is a basic yet essential healthcare service. We’re very thankful to our supporters for enabling us to fund this unmet need in the community.”
Tay-Sachs is a rare progressive neurological genetic disorder that is caused by the lack of the Hexosaminidase, an enzyme which plays the important role of clearing away GM2 waste in the brain.
Sandhoff disease is very similar to Tay-Sachs but the defected gene, called HEXB, does not allow the production of two enzymes (beta-hexosaminidase A and beta-hexosaminidase B). The disease also results in premature death in a sufferer and the signs and symptoms are the same as in Tay-Sachs.
Sadly, there is currently no cure for Tay-Sachs or its associated diseases. A cure for Tay-Sachs will also mean a cure for over 70 other Lysosomal Storage Diseases as well as other neurological conditions such as Parkinson’s, Alzheimer’s and Multiple-Sclerosis.