‘We cannot do this alone’
In October last year, at the age of six, Sasha was diagnosed with such a rare disease it doesn’t even have a name, so doctors called it “SLC6A1”.
Nadine and David Lipworth are in a heartbreaking race against the clock to save their daughter Sasha from further regression and have been touched by the support of the community.
“We started noticing that Sasha wasn’t developing like her peers,” the Lipworths said.
“Until age four she was progressing – delayed, but progressing. But then she started going backwards. While other parents celebrated milestones, Sasha was losing skills, not gaining them. Her insomnia was torture. She became incontinent, and stopped playing. Sasha’s severe autism and involuntary movements increased in severity. She stopped speaking.”
In October last year, at the age of six, Sasha was diagnosed with such a rare disease it doesn’t even have a name, so doctors called it “SLC6A1”. Only one other person in the world is known to share Sasha’s mutation.
“The doctors had never heard of it, and none of us knew the ramifications of this diagnosis,” Nadine said.
“I was in disbelief when I was told there was no cure and no treatment. That dark place should never be visited by a parent. Insidious absence seizures – blank staring spells, hundreds a day – stole Sasha’s future, wiping from her memory the few words she had fought so hard to learn. Grief set in. Our entire world became research, learning about the disease and connecting with world-renowned scientists, searching for a way to give Sasha a future.”
The only potential cure is gene therapy.
“Leading institutions in Australia have dedicated scientists ready to develop a gene therapy for Sasha’s specific mutation of SLC6A1,” the Lipworths said.
“This means that Sasha has the chance at an independent future, able to talk, toilet herself and learn. Gene therapy costs millions of dollars.”
In the meantime, there is only one medication that can halt the regression. It’s called ‘Ravicti’ and it costs $60,000 to $110,000 per year based on Sasha’s weight, making it one of the most expensive medications in the world. Between now and delivering the cure, Sasha needs to take this medication.
The Lipworths have set up a fundraising page to help them cover the costs of trying to save their daughter.
“Sasha will be a pioneer and go down in history – she will help millions of people,” Nadine said, explaining that if Sasha’s mutation can be fixed, it will pave the way to treating others for all kinds of genetic diseases.
“David and I are profoundly touched by the solidarity our community has shown. Knowing we’re not alone in this journey is comforting, particularly as we endeavour to raise enough money for Sasha’s gene therapy.
“We cannot do this alone. Your support and care for Sasha’s future mean the world to us and with your help we will give her a brighter future.”
To help save Sasha visit www.gofundme.com/SavingSashaSLC6A1
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