Saving Sasha from SLC6A1 - We Must Hurry!

Without your support, Sasha will never develop - she will be an infant trapped in a woman's body, severely disabled and needing 24/7 care for the rest of her life.

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.

With time not on our side, we need to move fast now.

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.

The Cure - Gene Therapy

Gene therapy is used to correct defective genes in order to cure a disease. Leading institutions in Australia have dedicated scientists ready to develop a gene therapy for Sasha's specific mutation of SLC6A1. This means that Sasha has the chance at an independent future, able to talk, toilet herself and learn. Gene therapy costs millions of dollars.

Sasha The Pioneer

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.

Medication in the meantime

There is only one medication that can halt the regression, called “Ravicti”, and it costs $60,000 -$110,000 per year based on Sasha's weight. One of the most expensive medications in the world. Between now and delivering the cure, Sasha needs to take this medication.

David and I will contribute every penny we can but we need to raise $2,000,000 for development of a gene therapy and to pay for Ravicti to halt the regression process.

This is our only chance to help our daughter. We must fight for her, and we must move fast. Her future depends on it. I am facing the pain of seeing the person I care for most in the entire world deteriorating, so anything you can do to help, I will be eternally grateful for.

David and I ask for your help today.

We nearly have it in our grasp to save our special daughter from further disabilities and restore what she has lost.

Where is my donation going?

Your donations will be placed in a medical fund for Sasha. We are opening a bank account for Sasha where the funds will be held and used to purchase the medication Ravicti that will halt Sasha's regression. Donations will also go towards research into a gene therapy to finally cure Sasha and other medical expenses.

Every dollar will be accounted for. Updates will be made to the master copy of Sasha's Medical Budget Forecast as steps are achieved. This is a projection of the expenses we expect along the way. We want every single donor to know exactly where their money has been spent.

Your contribution to medical science

The insights derived from Sasha's gene therapy breakthroughs will be leveraged to aid numerous rare diseases. Your contribution extends far beyond Sasha; you're contributing to a broader effort that will alleviate the suffering of countless children worldwide.

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YOU can help pave the way to curing childhood SLC6A1: