From her first smile, her first word, her first step and her first birthday — doting parents Nadine and David Lipworth captured every moment of their “feisty” Sasha.
But seemingly overnight, their little girl could no longer even utter the words “mummy” or “daddy”.
The once-vibrant seven-year-old has lost her ability to talk, she is back in nappies and her fine motor skills have vanished.
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Sasha is essentially reversing in age.
She will grow older, but, as she does so, her functions will regress.
She will become a woman trapped at an infantile developmental level.
“Our vibrant, engaging daughter was disintegrating before our eyes, and the doctors couldn’t stop it,” the Lipworths tells 7Life of their daughter’s one-of-a-kind diagnosis.
“I can’t even describe the grief of watching your child be robbed of their future, with a lifetime left to live.”
Sasha has a disease so rare not only does it not have a name, only one other person in the world has the same variant and mutation.
But now, an incredible team of genetic specialists has discovered that, by helping Sasha, it will open the door to potentially curing millions of people around the world who have other, “splice site” gene mutations.
“Sasha doesn’t realise it, but she is going to help millions of people,” Nadine beams with pride.
The Sydney mum recalls the first moment she laid eyes on her precious newborn.
As baby Sasha was placed on Nadine’s chest, she stretched out her tiny hand and gently rested it on her mum’s body.
“At that moment, my soul promised hers that we will always look after her. We tell her that every day,” Nadine says, confessing she sobbed upon hearing that Sasha was a healthy newborn.
After settling into their room in the maternity ward, Nadine watched on as David and Sasha had their first cuddle.
Life with their new baby was a whirlwind, with Nadine filling her phone with apps to track Sasha’s development and meeting up with her local mothers’ group.
From just a few weeks old, Sasha was a sweet but sassy little girl with a smile which lit up the whole room.
But from a young age, it became obvious to David and Nadine that Sasha marched to the beat of her own drum.
She was meeting her milestones, just slower than her peers — something doctors repeatedly told the first-time parents to not worry about.
To combat their anxiety, Nadine threw herself into focusing on just Sasha, and blocked the noise out from other mothers.
And as she grew, Sasha’s unique personality continued to shine, with David and Nadine kept on their toes by their little firecracker.
But on Sasha’s fourth birthday, as she struggled to blow out her candles, her parents knew things were not quite right.
The young girl began “zoning out” and having daydreams, a symptom many doctors attributed to a lack of attention and a subsequent global developmental delay, ADHD and severe autism diagnosis.
However, in reality, Sasha was having hundreds of seizures a day.
Lasting 10-15 seconds each, these absent seizures were silent, but a sign of something much more sinister.
“Until this time, she had been delayed, but developing,” Nadine explains.
“This is when she started losing all of her abilities, and retreating from the world around her.”
After just a few months of suffering from hundreds of daily seizures, Sasha began losing her capacity to play.
Before their very eyes, Sasha lost the ability to hold utensils at the dinner table, and became incontinent and mute.
“She stopped speaking: Just as she was beginning to find her voice, it was taken from her,” Nadine writes on the family’s GoFundMe page.
“She was slipping away from us. The struggle to survive day-by-day took over our lives.”
The worried parents put their lives on hold and threw themselves into a world of doctors’ appointments and tests as they desperately grappled for any answers.
For more than two years, they watched their little girl retreat backwards — until countless examinations finally revealed the truth.
Sasha was suffering from one of the rarest diseases on the planet.
So rare, it doesn’t have a name.
A unique mutation in the SLC6A1 gene left the parents with more questions then answers.
Mutations in the gene have been found to cause neurodevelopmental disorders including epilepsy and delays in development and movement.
“Our first response was, ‘SLC6A-what?’,” Nadine says.
“Even the doctors hadn’t heard of it.
“When they told us that there’s no treatment and no cure, and Sasha will remain at the level of an infant for the rest of her life, we were devastated.
“It was like the entire earth was pulled out from under us.”
The instant David and Nadine walked out of the doctors’ surgery they made a pact to not sit back and do nothing.
David quit his job and spent his days reading scientific papers and speaking with leading scientists around the world.
Nadine threw herself into caring for their girl full-time, taking her to appointments and keeping up with an abundance of trial medication.
The couple watched on helplessly as Sasha began losing the skills they had celebrated not too long before.
They became like shift workers in the night, sitting with their now seven-year-old as they did when she was a newborn who wouldn’t sleep at 1am.
Meanwhile, Sasha continued to suffer from hundreds of daily seizures, each one stealing a piece of her future.
“There’s no pain like watching your child go backwards, losing their abilities and becoming so frustrated that all they can do is scream,” Nadine says of her daughter’s regression.
“Now she can’t tell us what’s wrong, or how she’s feeling.
“She can’t even let us know when she’s hungry, thirsty, too hot or cold, or in pain. She’s trapped.”
The incredible seven-year-old kept putting on a brave face as doctors continued their desperate attempts to unlock a cure to her genetic mutation.
And, miraculously, doctors believe they have found one — not just for Sasha but for millions of people around the world with other, less rare gene mutations.
“We learnt that Sasha’s mutation is fixable!” Nadine smiles.
Although Sasha’s condition is extremely rare, it is caused by a “splice site mutation”.
This mutation is the root of more than 15 per cent of all disease-causing mutations.
So by helping Sasha, it opens the door to using the same treatment on millions of others in the future.
The proposed treatment is two fold: a medication, which costs approximately $110,000 annually, and new ‘precision gene therapy’, which is a further cost impost on the family.
The costly medication will act as a “masking tape”, preventing Sasha’s development from regressing further.
The gene therapy they wish to develop will, in theory, return some of Sasha’s lost abilities and help her to continue to progress into adulthood.
The Lipworths refuse to let go of the potential hope for their daughter — despite the prohibitive costs of the treatment.
David and Nadine have started a fundraiser, hoping to raise $2 million to help with the costs of the expensive, ongoing treatment.
“We won’t stop fighting for Sasha until she gets back what every child deserves — a future,” Nadine says.