Living with Li-Fraumeni Syndrome: A Rare Patient Story

James Higgins’ father was diagnosed with brain cancer in 1965. At that time, there was basically no treatment for brain cancer, and about a year after the diagnosis, he was dead. He died at a relatively young age, and James and his siblings grew up without a father in their lives.

In the early 1990s, his sister was diagnosed with breast cancer. However, in this case, her breast cancer was effectively cured. Then, just a few years later, she was diagnosed with cervical cancer, and, not long after, leukemia. This final diagnosis would ultimately claim her life, much like cancer had taken his father’s.

There isn’t necessarily something unusual about family members getting cancer; it’s a pretty common cause of death, after all. But generally, cancers are diseases of old age. At the time, the doctors simply concluded that the Higgins family was especially unfortunate when it came to cancer.

Cancers of varying types would affect and ultimately take the lives of James’ two daughters. It was during these visits that a knowledgeable doctor finally urged the family to undergo genetic testing.

“Li-Fraumeni is a mutation of the p53 cancer suppressor gene, which is the major cancer suppressor in the body. In her case, she inherited one mutated copy of the gene, which means it was turned off.” – James

Testing confirmed that the family was impacted by Li-Fraumeni syndrome. The p53 gene suppresses the development of cancer by repairing cell DNA mutations or triggering the destruction of mutated cells that it cannot repair.

James initially didn’t get tested, because at the time that his family was facing these diagnoses, he didn’t have insurance. Genetic testing was incredibly expensive.

Once it was clear that the family had the syndrome, Kerry, James’ eldest daughter, had her eggs harvested and tested for the mutation. Thanks to this decision, his granddaughters do not carry the mutation. Once James passes, the disease will no longer be a part of the Higgins family.

James has since had his own battles with soft tissue sarcoma, which had to be treated with surgery and radiation in 2014. He has had to face multiple encounters with this cancer as well as other types, such as a cutaneous anaplastic large T-cell lymphoma.

“It’s a struggle every day. You have to walk a fine line between diligence and paranoia.”

James undergoes annual full body MRI and blood tests in order to scan for any hidden cancers.

“In some ways we’re better off than the general public because we’re being watched. It’s more likely to be caught early.”

Naturally, the knowledge of the diagnosis living with such a high risk of cancer carries a serious mental health burden.

“It’s all about awareness, you’ve got to be aware of your own body. Make your friends and family aware.”

Learn more about Li-Fraumeni syndrome at the links below:

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