I lost my mother, three siblings and my nephew to early stage cancer… Years later I discovered that a little known genetic silent killer was to blame

Cancer touches many families, but some seem especially cursed. Mine is one of them. Cancer has haunted my family for over half a century.

Five members contracted the disease and all died, four of them before the age of 45.

My mother was first diagnosed with breast cancer at age 30 and died in 1968 at age 42. My youngest sister died of abdominal cancer in 1981 at age 24, and my other sister died of lung cancer six years later at age 32.

My brother's son, who survived cancer in his cheek at the age of two, died in early 2019 from developing a bone tumor.

My brother survived lung cancer at age 46, but suffered from several other cancers before dying of pancreatic cancer at age 69, just seven months after his son.

Each new cancer brought grief and disbelief. Why did this happen? Was there nothing that could be done? Why was I the only one of the four siblings who was spared? Was I next?

For a long time, oncologists had no answer to this question.

Particularly heartbreaking was the ordeal my nephew Charlie endured at the age of two. What doctors initially thought was a bruise on his cheek was diagnosed as soft tissue cancer, giving him only a 20 percent chance of survival.

Against all odds, Charlie survived, although the radiation stunted the growth of his jaw and disfigured his face. He underwent numerous reconstructive surgeries over the next two decades.

During Charlie's initial treatment, his doctors agreed that the number of cancers in our family was so unusual that they took a section of skin from our forearms and ran tests to look for anything unusual.

But they couldn't find anything suspicious. Perhaps because the cancers were different, the doctors didn't think the cause could be hereditary.

Maybe the alarming cancer rate was related to our father's work as a research chemist, we thought. Maybe he brought home tiny carcinogenic particles on his clothes that were inhaled and caused cancer years later?

After my second sister died, her husband wrote to a scientist and asked if this could be the case. The answer was that our theory was “unlikely”.

Finally, in 2014, 46 years after our mother's death, an oncologist suggested my brother get a genetic test. The test revealed that our gene pool was affected by a disease called Li-Fraumeni syndrome, in which the cancer-fighting gene p53 loses its ability to prevent abnormal cell growth.

Two pioneering physicians, Frederick Li and Joseph Fraumeni Jr., had spent several decades trying to solve the medical mystery. The syndrome is extremely rare, affecting only 5,000 to 10,000 out of 125 million families in the United States.

Unlike many so-called cancer genes, such as the better-known BRCA gene, which mainly causes breast and ovarian cancer, the p53 mutation can lead to a variety of cancers occurring within the family, often at a very young age.

A telltale sign is when a patient has been diagnosed with cancer early in life – sometimes multiple cancers – and has other close family members who have suffered a similar fate.

A person with Li-Fraumeni syndrome has a 50 percent chance of developing cancer by age 40—ten times higher than normal—and a 95 percent chance of developing it during their lifetime.

There is still no way to stop the spread of cancer caused by the mutation.

However, regular screening of affected family members can help detect cancer at an early stage. Studies show that this significantly increases the chances of survival.

Sometimes I wonder if it wouldn't have been better if we had known about the mutation in our family earlier. Maybe we would have been more alert and some of the cancers would have been diagnosed earlier.

However, it is impossible to say whether this would have made a difference, since cancer can be so deadly that even early detection does not guarantee survival.

In 2015, a year after learning about Li-Fraumeni syndrome, at my daughter's repeated request, I decided to get tested myself.

Despite the strong family history, I was told that the chance that I had inherited the mutation from my mother's side was only 50 percent. After waiting a month, I got the result: negative.

Fate has blessed me with the ability to escape the family curse. I will not pass it on to my children.

Since my family died of cancer, I sometimes feel a wave of melancholy. Every Christmas Eve, I retreat to a quiet place and go through a box of old family photos.

In one of my treasured photographs, the four of us as children are sitting in a row, from oldest to youngest. In another, my younger sister Angela, about five, is sitting in a sleeveless striped cotton dress, smiling despite her missing teeth.

And there's one of our beaming mother, kneeling and holding up little Gina, who is standing a little wobbly. When you hold on to the memories of the good times, they're never really over.

It may not happen soon, but I am convinced that one day, with the help of dedicated doctors and the Li-Fraumeni Syndrome Association, there will be a cure.

And families like mine are spared the pain of what we had to go through.

This essay is an adaptation of the book A fatal inheritance: How a family accident brought a deadly medical mystery to lightedited by Henry Holt.