A family in the Australian state of Queensland is forced to sell their dream home to raise funds for their daughter's life-saving treatment.
Talulah Moon, 5, was diagnosed with SPG56, a degenerative brain disease caused by a rare genetic mutation.
Talulah was a healthy, happy baby until just after her first birthday, when she suddenly began to lose her motor skills.
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“She was hitting all her milestones, and then all of a sudden she experienced a very rapid regression. Her abilities fell off a cliff like an avalanche, and it was terrifying.” Talulah Moon's mother, Golden Whitrod, told FOX News Digital. On-camera interview.
Talulah Moon (left) has been diagnosed with SPG56, an extremely rare neurodegenerative disease that worsens over time. Her mother, Golden Whitrod (right), is committed to finding and funding a gene therapy that could save her daughter. (Our Moon's Mission/Golden Whitrod; Sara Climie Photography)
“She went from being a little girl walking and talking to suddenly not being able to sit up on her own, raise her arms over her shoulders or support her neck,” Whitrod said. said.
Swallowing and choking were also concerns.
“We watched this beautiful child grow up to be 14 months old, and then she regressed to the capabilities of a 4-month-old,” Whitrod recalled.
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Talulah Moon was also frightened, unable to understand that she had lost her powers.
“I remember her looking at us as if to say, 'Why aren't you helping me?'” her mother said. “I felt it as a parent. I didn't know what to do.”
devastating diagnosis
At first, Mr. Whitrod hoped that what was causing Tallulah's decline could be easily resolved.
After six months of tests and scans, doctors conducted a genetic study known as whole genome sequencing (WGS) and Talulah Moon was diagnosed with SPG56 in August 2020.
Talulah Moon, then three years old, was pictured at her family's home in Darwin, Australia. The family is putting their house on the market to fund their mission to cure their daughter's self-propelled gun No. 56. (Our Moon Mission/Golden Whitrod)
SPG56 is a type of hereditary spastic paraplegia (HSP) that typically begins around age 1 or 2 and worsens over time, causing muscle weakness and, as seen in past cases, Gradually takes away the ability to walk, talk, stand, and sit.
In later stages, the disease can cause cognitive decline, seizures, and even an inability to swallow.
SPG56 is one of the rarest types of HSP, with statistics showing that fewer than 1 in 1 million children are affected.
“We watched this beautiful child grow up at 14 months old and then he regressed to the capabilities of a 4-month old.”
There is currently no cure for this disease.
“The doctors told us, 'Just love your baby,'” Whitrod said. “They said there was nothing they could do, there was no cure.”
mother's determination
After “coming out of the fog” after her diagnosis, Whitrod immersed herself in research and made connections with other families who had children with the same rare genetic disease.
One of them is Terry Pirovolakis, a Canadian father whose son was diagnosed with SGP50, a disease very similar to Talulah Moon's SPG56.
Pirovolakis immediately began researching to find a gene therapy that could help her son.
Whitrod (left) met with scientists at the Gene Institute and carefully built his own research team. (Our Moon Mission/Golden Whitrod)
After meeting with experts from around the world, he tapped into his own savings and paid a team of researchers the funds to begin developing a treatment. After a major fundraising campaign, their son received a one-time treatment in 2022 that halted the progression of his disease.
Following Pirovolakis' lead, Whitrod met with scientists at the Gene Institute and carefully set up his own research team.
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The research team spent three years developing an experimental gene therapy for SPG56, which Whitrod called a “huge victory.”
The next step is to put the treatment through clinical trials to ensure it is safe and effective for children who need it, but the cost is too high for most families to afford. .
Whitrod said it would cost a staggering $3 million to manufacture the drug before administering it to Talulah Moon in clinical trials.
Chris (left), Finn (above), Golden and Talulah Moon enjoyed a day at the beach on International Rare Disease Day 2023. (Our Moon Mission/Golden Whitrod)
“Unfortunately, big pharmaceutical companies have no interest in funding research into these rare diseases, even if treatments are possible,” she says.
“We realized that if we wanted to do this, we had to finance it ourselves.”
Talulah Moon, 5, lives with her parents, Golden and Chris Whitrod, and their daughter, SPG56, who has the neurodegenerative disease SPG56. (Sarah Climey Photography)
Dr. Walter Gaman, founder of Executive Medicine of Texas, emphasized that rare diseases often come with an economic burden.
“Rare diseases inherently have small market shares, meaning there are few customers who can absorb the cost of bringing effective drugs to market,” Gaman, who is not affiliated with the Whitrod family, told Fox News Digital. Ta.
“We realized that if we wanted to do this, we had to finance it ourselves.”
In 2003, Deloitte reported that the average cost of bringing a drug to market exceeded $2 billion, Gaman said.
“One of the most important victories for orphan drugs came in 2017 when President Trump signed the Food and Drug Administration Reauthorization Act (FDARA),” he noted.
“This is a huge win for orphan therapies because it expands the FDA's rare disease program and also speeds up the review process. As a result, a record 59 orphan drugs were greenlit in 2018. We need to build that momentum again.”
In 2003, the average cost of bringing a drug to market exceeded $2 billion.
There is still much work to be done, he noted.
“We need to bring orphan drugs to market, but we also need to consider how to make these drugs more affordable to end users,” Gaman said.
Possible ideas, he suggested, include giving tax breaks to companies that support such drugs, or imposing a tax on drug companies that donates directly to the FDA's rare disease program.
“Bigger dreams”
“We stand on the precipice of a cure for Talulah and children in her position,” Whitrod said.
“I feel like we're almost there. But of course $3 million is a lot of money for a small Australian family.”
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The Whitrods have started a charitable foundation called Genetic Cures for Kids and are running a fundraising campaign called Our Moon's Mission.
Although the family had raised some funds through donations, it was only a fraction of the funds needed for Talulah Moon's treatment, so they decided to sell their home.
The house, located on the outskirts of Stuart Park, is scheduled to go up for auction this week.
Talulah Moon's mother, Golden Whitrod (left), has formed a research team to identify a treatment for her daughter's genetic disorder. (Our Moon Mission/Golden Whitrod)
“We were hoping that a miracle would happen and we wouldn't have to sell and that help would come before we got into this crisis,” Whitrod said.
“But ultimately we realized that it was the last asset we had and that could help us get to the finish line.”
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They sacrificed their family's “dream home,” but now they want to “dream bigger,” Whitrod said.
“It's about giving Talulah the life she deserves, and we're all working towards that.”
Whitrod is passionate about saving her daughter, but she also has a broader goal in mind: helping other families with children facing similar challenges. (Sarah Climey Photography)
Meanwhile, Whitrod said Talulah Moon is working to combat the neurodegenerative disease through physical, occupational and speech therapy.
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Whitrod is passionate about saving her daughter, but she also has a broader goal in mind: helping other families with children facing similar challenges.
Golden Whitrod is pictured with her 5-year-old daughter Talulah Moon, who has the rare neurodegenerative disease SPG56. (Sarah Climey Photography)
“What we are creating is not just a treatment for Talula that will end up in children with SPG56. We are creating a replicable framework so researchers can develop treatments for other similar diseases. can continue to develop,” she said.
“If we arrive in time, we can help Talulah live the life she deserves. And we can help not only her, but many other children just like her.”
