Tallulah Moon is one of only nine people in the world diagnosed with hereditary spastic paraplegia type 56. After initially being "crushed" by the news, her parents are fighting back by raising money to fund research into treatment and a cure.
Tallulah Moon's family raises money for research into hereditary spastic paraplegia type 56
was 14 months old and beginning to walk and talk — when suddenly her laughter and dancing stopped.
Her legs stiffened, and when her previously confident stride faltered she reverted back to crawling.
Her parents were distraught and at a loss.
After a long run of tests, they got a blessing and a curse of a diagnosis, hereditary spastic paraplegia type 56 or SPG56.
Rarest of the rare
Professor Alan Mackay-Sim and his team at Griffith University and the University of Queensland are global leaders in researching treatments for hereditary spastic paraplegia.
Sadly, for Tullulah, the outlook isn't good.
Professor Mackay-Sim said despite it being unknown how the genetic disease will manifest, the only way to know what her future will look like is to compare her to other childhood onset HSP sufferers.
"It's very unfortunate, there is just more spasticity and weakness, and quite possibly early death."
He says because of the rarity, there is no way of providing a timeline on Tallulah's decline as it varies so greatly between cases and there isn't enough information about her particular mutation.
Treatment in the works
The hunt for a treatment is making great progress.
Professor Alan Mackay-Sim is already doing clinical trials on a treatment for SPG4, which could become a treatment for SPG56.
"Tallulah literally has a full-time job with therapy every day, struggling to keep her disease at bay.
"We loved our life in Darwin where our kids were born and our son Finn was just starting pre-school, but we moved to Queensland to give Tallulah the early intervention support she needs: intensive specialist paediatric physiotherapy, speech therapy and occupational therapy."
Professor Alan Mackay-Sim
For thousands of years it was thought impossible to regenerate the spinal cord. Now we know it's both possible and safe, thanks to the pioneering work of the 2017 Australian of the Year.
Australian of the Year: Professor Alan Mackay-Sim linked nerve cells in your nose to spinal cord repairs
For thousands of years it was thought impossible to regenerate the spinal cord.
Now we know it's both possible and safe — and that's thanks to the pioneering work of Emeritus Professor Alan Mackay-Sim, the 2017 Australian of the Year.
It was a breakthrough described as the scientific equivalent of the moon landing.
It started with the nose
in 2002, after many years of research, Professor Mackay-Sim took the step of being the first in the world
to try this therapy.
Cells were taken from the nose, they were purified and then put back into a spinal cord to repair an injury.
He found it was indeed safe to inject the human spinal cord with olfactory ensheathing cells, and spinal repair was possible.
This was a huge moment and other research teams around the world followed his lead.
Australian of the Year, Alan MacKay Sims (Professor)
"We must, as Australians, prioritise our spending so that we can afford not only to look after the disabled and the diseased in our community, but to look at future radical treatments that will reduce future health costs," he said.
"As a nation, we must be part of this and we must invest in young scientists and give them great careers. Researchers need a long view, much longer than the political horizon."
That approach may be the only long term hope for Tallulah Moon