Telethon 2024: Incredible story of a mother & daughter with mystery illness

At the annual Telethon Ball, with all the good will and giving, and the dignitaries and the donors, and the politicians and personalities, it can be hard to encapsulate what really stands out.

But in 2020 a mother’s story did.

Laura West told a hushed audience about her fragile daughter Charlotte.

Hidden behind the joy of the day she was born, was the dark discovery she carried an unknown and rare condition.

In time they would find out less than 10 females in the world were plagued by it.

And it meant Charlotte and her family lived under the constant shadow of uncertainty.

But, as Ms West watched on at the 2020 Telethon Ball, a generous audience raised more than $1 million to support The Kids Research Institute Australia’s efforts to decode undiagnosed diseases.

And some of those donations would go towards trying to unlock the secret slowing little Charlotte down.

The stoic 10-year-old has endured 64 surgeries, relies on 16 daily medications, and had been diagnosed with several conditions including cerebral palsy and seizure disorders.

Yet, the root cause of her illness remained unknown.

“Basically, all we knew was we had a very sick little girl,” Ms West said.

“She was having unusual seizures and various issues with fluctuating blood sugars that had no real reason and left doctors scratching their heads in terms of a diagnosis.”

But five years of research culminated in the announcement of a ground-breaking discovery by the scientists at The Kids Research Institute Australia in partnership with the Undiagnosed Diseases Program.

The scientists identified a unique genetic variant responsible for Charlotte’s condition affecting a minuscule number of girls and women across the globe.

And the discovery was possible thanks to the $1.1 million raised at the 2020 Telethon Ball.

“We can now unequivocally say that Charlotte is going to have a long life. She is not going to go backwards, there is a path forward,” Undiagnosed Diseases Program lead Gareth Baynam said.

The diagnosis means Charlotte can now receive a treatment plan that works well for others with the same condition.

“To see all of the support that was channelled into this program was just absolutely overwhelming and then to come full circle and get that call was amazing,” Ms West said.

“This find has given us a community that we can compare notes with and get an idea as to what the future might look like and give us a bit of a roadmap.”

It has also given her a sense of hope not only for Charlotte’s future but also for her three other children.

“We had no idea about what the future would be like for Charlotte and also for our other children, whether they were going to be able to have children one day without having to worry about having a child that had medical issues,” Ms West said.

“This specific gene variant has just occurred out of the blue. It was something that happened and it’s not hereditary and can’t be passed on.”

Ms West said she was forever grateful for the scientists that keep trying to find answers for her daughter.

“I have so much gratitude for the researchers that basically persisted, knowing that it wasn’t going to be simple, knowing there was nothing obvious, but still continuing to search for this answer and then eventually being successful and giving us this answer,” she said.

“This gives us a bit of a hope for the Charlottes of the future . . . knowing that another little baby that’s born down the track isn’t going to have the kind of huge question mark and the confusion and fear we had to deal with.”

Cracking the genetic code of Charlotte’s conditions marks a significant milestone in medical research — promising faster and more accurate diagnoses for other children facing unknown and rare diseases.

The Kids’ Precision Health Program head Timo Lassmann said discovering Charlotte’s gene variation was like finding a needle in a haystack.

“Charlotte’s case was extremely complicated and challenging because of the unique characteristics of the variant,” he said.

“Now, as a result of this work, we will be able to apply the process we used to other cases to diagnose unknown diseases more quickly.”

Ms West will share Charlotte’s story live on the Telethon broadcast at 11.15am on Sunday.