Inside young family’s heartbreaking struggle to save their daughter Sasha from a cruel genetic condition so rare it doesn’t even have a name

A young family suspected on their daughter Sasha’s first birthday that something wasn’t quite right… but it took years to finally discover the truth about her condition.

After years of anguish and misdiagnoses of global developmental delay, ADHD and autism, last month Nadine and David Lipworth finally discovered that an extremely rare genetic mutation was robbing Sasha of almost everything she had learned since birth.

The disease causes seizures and is so rare that it doesn’t even have a name: it is simply known by the affected gene, SLC6A1.

“(It’s) the cruelest thing you can imagine that could happen to a child, because from the age of four, instead of continuing to progress, he started to regress,” Mr Lipworth said. The project on Tuesday.

“(On) his fourth birthday he was singing happy birthday and blowing out the candles and he was just an average four-year-old, and then a couple of months later all of that was stolen from him,” Ms Lipworth said.

‘She had just escaped from us and it was fast. They weren’t years. It was months.’

At the age of five, Sasha was back in diapers and could no longer talk, play, or perform basic tasks.

When he turned seven in March, he had trouble blowing out a single candle.

‘It’s so bad. Children are supposed to progress. Don’t back down,” said Mr. Lipworth.

“Watching Sasha go through a process that is exactly like dementia is something that is truly torture to watch. It’s cruel when it happens to an elderly person. But it’s unfathomable when it happens to a child.

While there is a medication called Ravicti that can stop Sasha’s regression, it is one of the most expensive medications in the world, costing between $60,000 and $100,000 a year.

“I thought how can a pharmaceutical company charge so much to stop my son from making further progress,” Mrs. Lipworth said.

‘And then secondly, I thought: how are we going to do this? It is literally impossible for us to pay that amount to stop her from drifting further and further away.’

Both parents left their jobs to care for Sasha full-time and learn as much as possible about her condition.

A crowdfunding campaign in GoFundMe has helped them raise enough money to purchase a first supply of the medication.

But Lipworth’s main hope is that researchers can develop a personalized gene therapy, not just for Sasha, but for all children with rare genetic diseases.

“Every time we tackle a new disease, we learn more about the technology,” said rare disease expert Professor Sue Fletcher.

“We come up with new ideas about how to improve it, and ultimately each of these diseases we work on will pave the way for additional therapies.”

But he added that research is expensive and time-consuming.

“Treatments for rare diseases have not kept pace with diagnosis,” he said.

‘In fact, there are few treatments for the more than 8,000 rare diseases that have been identified. What is needed is research, funding, resources.

“Given the number of these diseases being researched, I am hopeful that over time we will be able to improve outcomes for these young children.”

Sasha’s parents told her ‘“The sense of urgency is enormous.”

‘We can still feel it there. The joy is still within her. She still has that spark. We know we can get it back if she is given the right therapy,” said Mr Lipworth.

‘My biggest fear is that Sasha will not receive gene therapy and will have a life full of disability. “I want her to be able to sing Happy Birthday to her again and say ‘Mom’ and all the things she used to say,” Mrs. Lipworth said through tears.

‘My promise to Sasha is that we will not give up. We will not give up.’

‘We tell him that mom and dad love you very much. Mom and dad will always take care of you and we have to be her voice because she doesn’t have her own voice.

“And we will never stop until he is given the opportunity he deserves.”