Even though doctors insisted everything was fine, Sydney mother Danielle knew her normally bright and bubbly baby was behaving differently.
Charlotte, then eight-months-old, changed almost overnight and was suddenly listless and tired, her trademark grin gone.
A couple of little bruises on her arms and legs wouldn’t go away either.
“I’d taken her to the doctor a few times and was told it was just a developmental thing,” Danielle recalled. “They said she was just moving more, being more active, and probably bumping into things as a result, getting a bit tired from that, so it was just normal.”
When she then came down with a nasty virus, the doctor said the high temperature and vomiting would ease, but it didn’t.
“She didn’t get worse but there was no improvement either,” Danielle said. “And she just didn’t look right. I don’t know how to explain it. She was puffy. She just looked wrong.
“I took her to the hospital and we were there for 12 hours. They did a heap of blood tests. In the middle of the night, the emergency doctor said they’d called in a paediatrician to talk to us.
“She got there and told us it looked like leukaemia. We were put in an ambulance and sent straight to the Children’s Hospital, and we were there for seven weeks.”
Charlotte was diagnosed with acute myeloid leukaemia (AML), an aggressive blood cancer with a low survival rate that’s incredibly hard to treat.
Just one-quarter of children with AML survive – the majority die within five years.
But for families like Danielle’s in the future, that might no longer be the case thanks to a groundbreaking discovery by the Children’s Cancer Institute in Sydney.
Researchers have developed a new therapeutic approach that could specifically target leukaemia stem cells, with their work published today in the leading medical journal Cancer Cell.
“Leukaemia stem cells have their own protective mechanisms that make them resistant to anti-cancer drugs”, explains lead researcher Dr Jenny Wang, head of the Cancer and Stem Cell Biology Group.
“After chemotherapy, if even one leukaemia stem cell is left alive, it can regenerate and the disease can come back.”
The new treatment approach works by disrupting the ability of leukaemia stem cells to self-renew. Specifically, it uses an antibody treatment, known as anti-RSPO3, to interfere with the interaction between two key molecules thought to drive the self-renewal process.
Testing in highly specialised laboratory models have been hugely positive, not only markedly reducing the amount of leukaemia, but also preventing new leukaemia cells from growing.
Researchers also found that the treatment tests didn’t harm healthy stem cells, which kids with AML need to reconstitute their blood system.
And best of all, the new targeted therapy could replace intensive chemotherapy, which has a number of serious and long-term side effects, Dr Wang said.
“This disease is very tough, and the survival rate is low. We really need to find a cure.”
For little Charlotte, while it saved her life, the treatment was intensive and horrific, and will have lifelong consequences.
Over the course of six gruelling months, oncologists at The Children’s Hospital at Randwick “threw everything they had at it”, Danielle said.
“She had six lots of chemotherapy, which was a mix of infusions, infections and oral chemo. They found leukaemia cells around her brain so she had to have chemo injected directly into her spinal column. That was quite full on.
“Then she had to have a stem cell transplant as well because she was at a higher risk of relapse. There were lots of blood and platelet transfusions too.”
Thankfully, Charlotte – now 11 – is well and happy.
Apart from breaking both of her ankles on a trampoline at vacation care in January, that is, but the passionate dancer is fully mended and back to her energetic self.
“She’s a very, very determined girl,” Danielle said.
There’s an increased risk of secondary cancers and doctors will keep an eye on her heart, which was likely damaged by her treatment, for the rest of her life.
“It’s expected there will be some issues with her fertility when she’s older, but it’s something they’ll keep an eye on,” Danielle added.
“But she’s happy and healthy and full of life.”
The Children’s Cancer Institute needs donations to continue advancing this research to clinical trial stage. You can donate at ccia.support/charlotte.