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 something was wrong on their daughter Sasha’s first birthday… but it took years before they finally discovered the truth about her condition.

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

The disease causes her to have seizures and is so rare it doesn’t even have a name; it is only referenced 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 she started to regress, instead of progressing,” Mr Lipworth said. The project on Tuesday.

“(On) her fourth birthday she sang ‘Happy Birthday’ and blew out the candles and she was just an average four-year-old, and a few months later that was all stolen from her,” Ms. Lipworth said.

David and Nadine Lipworth (pictured) have promised their daughter Sasha that they will not give up

‘She had just slipped away from us and it happened quickly. It wasn’t years. It took months.’

When Sasha was five, she was back in diapers and could no longer talk, play, or perform basic tasks.

When she celebrated her seventh birthday in March, she struggled to blow out even one candle.

‘It’s so wrong. Children are supposed to make progress. No decline,” Mr Lipworth said.

‘Watching Sasha go through a process that looks exactly like dementia is truly torture to watch. It’s cruel when it happens to an older person. But it is incomprehensible if it happens to a child.’

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

“I thought to myself, how can a pharmaceutical company charge so much to prevent my child from progressing,” Ms. Lipworth said.

“And secondly, I thought, how are we going to do this? It is literally impossible for us to pay that amount to prevent her from slipping further and further away.’

The parents have both quit their jobs to care for Sasha full-time and learn as much as possible about her condition.

A crowdfunding campaign has started GoFundMe helped them raise enough money to purchase an initial supply of the drug.

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

Nadine Lipworth is pictured with her daughter Sasha when she was a newborn

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

“We’re coming 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 she added that research is expensive and takes a lot of time.

“Treatments for rare diseases have not kept pace with diagnosis,” she 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 and resources.

“Given the number of these diseases being investigated, I am hopeful that we can improve the outcome for these little children.”

Sasha’s parents told them ‘The sense of urgency is enormous’.

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

The disease that Sasha (in the photo with her mother) has causes her to have seizures and is so rare that she doesn’t even have a name; it is only referenced by the affected gene, SLC6A1.

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

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

‘We tell her that mommy and daddy 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 a voice of her own.

“And we will never stop until she gets the chance she deserves.”