SLC6A1 Stole Sasha’s Future.
Help Us Give It Back.
Support the race to save Sasha before it’s too late.
The Time is Now — We Must Hurry!
The Cure
First of Its Kind Gene Therapy
Top scientists in Australia and the US are developing the world’s first personalised antisense oligonucleotide (ASO) therapy targeting a splice site mutation causing genetic epilepsy
— the first of its kind in the world.
This breakthrough is Sasha’s only chance to speak, learn and live independently.
Sasha’s Story
I'll never forget that moment our beautiful, perfect baby girl was placed on my chest - March 2017. I sobbed uncontrollably with joy. I felt so relieved she was healthy. That is all a parent ever wants to know: that their child is healthy. That relief was short-lived. What happened in the following years is indescribable.
We started noticing that Sasha wasn't developing like her peers. Until age 4, she was progressing - delayed, but progressing. But then she started going backwards. Whilst 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: just as she was beginning to find her voice, it was taken from her. She was slipping away from us. The struggle to survive day-by-day took over our lives.
The Diagnosis
In October 2023, at age 6½, we finally found out the reason for Sasha's severe regression. One of the rarest diseases on the planet. So rare it doesn't even have a name. “SLC6A1” said the doctor. “SLC6A-what??” The doctors had never heard of it, and none of us knew the ramifications of this diagnosis. 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.
With time not on our side, we need to move fast now.
“Scientifically rigorous and globally significant, this is the most compelling example of personalised RNA therapy I’ve seen.”
- Professor Sue Fletcher (OA)
The Scientific Panel and Advisors
Sasha the Pioneer:
Her Cure Will Help Millions
Your donation is part of a much bigger picture. Sasha has a splice site mutation (ie, a mutation that affects RNA splicing). 15%+ of all disease-causing mutations are splicing mutations! So when we show that Sasha's mutation can be fixed, that will pave the way to treating millions of people for all kinds of genetic diseases.
We must fight for her, and millions of other children like her.
Institutions and Partners
Murdoch University
WA - Australia
Stanford University Programme
USA and Australia
Queensland University
QLD - Australia
TCAR RareLabs
Austin, Texas
