Please help Darwin toddler Tallulah Moon
Darwin's Tallulah Moon was 14 months old and beginning to walk and talk — when suddenly her laughter and dancing stopped. Tallulah has a rare genetic disease SPG56 which means she needs intensive specialist paediatric physiotherapy, speech therapy and occupational therapy.
Tallulah Moon 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.
Her mum Golden Whitrod says the diagnosis feels like a couple of lifetimes ago.
"Suddenly she stopped walking, then she began to crawl, then her arms began to crumble under her when she would crawl," she said.
"It happened really quickly, things started to almost avalanche."
She said the diagnosis was illuminating, but then scary, as it's a recessive genetic disease Tallulah inherited from her parents.
"There's no treatment known, no cure known, because it's so rare.
"So we were left to love our daughter."
Inspiration from tragedy
After the initial shock, Ms Whitrod and her partner Chris started to look for other families around the world going through similar struggles.
"We connected with families with other rare diseases, but specifically a community of people with the same disease as Tallulah overseas," she said.
"And there we started to find out about the research opportunities that were going on."
"Talking to families about gene therapy and drug discovery projects then lead us to the Hereditary Spastic Paraplegia Foundation."
The family, who were settled in Darwin, also learnt about the work of 2017 Australian of the Year Emeritus Professor Alan Mackay-Sim into research and treating rare genetic diseases.
Impressed by the Sunshine Coast resident's expertise, the family packed up and moved to be nearer to his research.
The relocation also brought them closer to the HSP Foundation's headquarters, and has spurred the couple's fundraising efforts for research into possible drugs to treat SPG56.
The couple, who aims to raise $1.5 million over the next year and a half, has already raised more than $150,000 in two days.
"We started these mini fundraisers on Facebook for Genetic Cure For Kids and we have 149 fundraisers going," Ms Whitrod said.
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.
"This is a very rare condition, and it's a strange one because the same symptoms apply through about 80 separate mutations," Professor Mackay-Sim said.
"So somebody can have one of these 80 mutations in their genes and have the same clinical diagnosis.
"The common mutation, SPG4 occurs in about 40 per cent of cases, whereas she has SPG56, [which] has nine cases around the world."
He said symptoms can vary as can onset age and severity.
"The more common [genetic diseases] are usually adult onset, and they might not occur until you are 30.
"Some people may only have a mutation that affects them in late life, and those are mostly where they have just spasticity and weakness and then later paralysis developing in their lower limbs."
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.
He said his team are investigating drugs that have already been developed and approved to determine if they are effective treatments for SP.
"We are in the final process of getting ethical approval to take the cells from Tallullah and get them growing very soon. It all depends on funding," he said.
"We've got a great plan, it's just a matter of getting that funding from the fundraisers."
The research could also lead to a cure using new gene therapy technology, Professor Mackay-Sim said.
"Gene therapy is just coming into practice in other single-gene diseases. The potential is there, that would be more permanent and would be a cure," he said.
From Darwin to Coolum for treatment
The Whitrod family are now focusing on raising funds for research through their campaign Our Moon Mission and helping Tallulah with her therapy.
"We've got our boy in school here on the Sunny Coast, and Tallulah is loving her therapy," Ms Whitrod said.
"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."
How you can help
- Please check out the family's Go Fund Me page here
- Follow their Facebook page here
- And please donate towards Tallulah's research. Every little bit counts.