A girl wearing a dark beanie and white jacket smiling for the camera.

Addie died of cancer at the age of 16. Genetic testing had revealed a painful truth

Michelle Brady remembers how much her daughter Addie loved life.

Even when Addie was treated for cancer at age nine, Michelle says she was selfless and brave.

“She was an incredibly young child. Very smart, very, very beautiful. I know a lot of parents say that about their children, but she really was.”

Addie had a rare form of bone cancer. Her tibia had to be replaced with a prosthetic bone in her leg and she spent months in the hospital undergoing heavy chemotherapy. But it wouldn’t be her last brush with cancer.

“When she was 14, she got up one morning and out of the blue — there were no signs of any of this, this is five years after her first cancer — she couldn’t speak and had a seizure,” says Michelle. say.

“And she was taken to hospital by ambulance. A few days later, we were told she had an inoperable brain tumor.”

Addie had an inherited mutation in the TP53 gene, known as the “guardian of the genome.”Delivered: Michelle Brady

Michelle knew there was more to it. It didn’t make sense that her young daughter could get two different cancers in such a short time.

Genetic testing revealed that Addie had Li Fraumeni syndrome — or LFS.

It is an inherited mutation of the TP53 gene, known as the ‘guardian of the genome’ because it stops cancer from forming. But for people with LFS, this process goes awry.

“Addie knew the seriousness of cancer because she had experienced it at the age of nine,” says Michelle.

“She had seen children she had been on the ward with lose their lives to cancer.

The cancer eventually moved to Addie’s spine, and Michelle remembers how hard the last few months of Addie’s life were.

“It was heartbreaking to see her experience that and not be able to do anything about it.”

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Addie passed away in February 2018, aged just 16.

Although LFS is usually inherited, Addie had what’s called a de novo mutation — meaning she was the first person in the family to carry the mutation.

In recent decades, many hereditary mutations have been discovered that put people at an increased risk of cancer.

There are genetic changes that occur in all cancers, often due to lifestyle and environmental factors. But these gene changes are hereditary — not acquired.

An inherited gene mutation does not guarantee that cancer will develop, but it does put people at much higher risk, often at a younger age. These hereditary mutations are responsible for 5-10 percent of all cancers.

Doctors look for ‘targeted treatments’

dr. Mark Pinese of the Children’s Cancer Institute leads a personalized medicine team looking at the inherited and do novo gene variants that put some children at risk for cancer.

“If we can identify those kids who are at risk for cancer, then maybe in the future we can…have relatively small drugs that they can take that take their risk out…that they just don’t get cancer at all,” says Dr. pinese.

“And that for us is the ultimate goal – and so much better than a cure.”

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