My relatives have been dropping dead from mysterious causes for generations – now I know why

Susan Weiss Liebman spent years searching for tiny genetic mutations in her family’s DNA that had caused generations of sudden, unexplained deaths.

Her research is detailed in her new book dressmaker’s mirror, It started with the sudden and unexplained death of my niece Karen.

Karen was 36 years old, otherwise healthy and pregnant when she collapsed at a restaurant in Brooklyn in 2008. dilated cardiomyopathy (DCM), when the heart becomes weak and enlarged; unable to pump blood Effectively.

This was the same condition that Karen’s mother, Diane, had suffered from for years. It was genetic, but for nearly a decade no one knew about it.

“This meant that Diane’s disease was genetic and not a complication of a viral infection, as doctors had previously thought,” Dr. Liebman wrote. Instead, Diane passed on the deadly gene to Karen. ”

“We had to find the mutation before God’s cruel Russian roulette took away more of our families.”

The tragedy, which occurred almost a year after her father suffered a sudden heart attack at age 66, prompted the 78-year-old to use her expertise as a geneticist to find answers. She scoured the research and corresponded with experts in the field about the latest discoveries about the variations in human DNA that make us who we are.

Dr. Liebman soon discovered that many in her family had inherited a potentially lethal genetic mutation involved in the production of proteins important in maintaining the function and structure of muscle cells, including those that make up the heart. I learned that it was.

Dr. Susan Weiss Liebman’s new book, The Dressmaker’s Mirror, is as much a genetic exploration as it is a memoir following generations of her family, marked by sudden deaths.

When Dr. Liebman was a child, he heard about the unexpected death of his father’s younger brother, Eugene.

Eugene was only four years old when he was crushed to death by a falling mirror in 1916.

His family tried to lift the mirror from him, but it was too late, and the story haunted Dr. Liebman for decades until she learned it was a lie.

The 4-year-old’s death certificate made no mention of an accident, mirror, or being crushed. In fact, the child died of congestive heart failure after five days in the hospital.

The death was not an accident. He inherited the killer gene, and Dr. Liebman’s family tree was later joined by her grandmother, father, niece, and others.

Her father did not know the family’s terrible secret and did not find out the truth until she had already been a trained geneticist for 30 years.

She says, “I have always thought about genetics in terms of my career. I studied this technology as an undergraduate at the Massachusetts Institute of Technology (MIT) and as a graduate student and postdoctoral fellow at Harvard and the University of Rochester.” It has expanded.

“I understood that genetics determined my eye and hair color, handedness, and other characteristics, but I had no idea it would have such a significant impact on my actual life. Now Now everything has changed.”

Dr. Liebman’s niece Karen is pictured with her husband Andrew. The couple shows off Karen’s baby bump the day before she suffers her fatal heart attack

The search for the culprit took years and included multiple DNA tests on Dr. Liebman and his sister Diane.

Every time I tested, I didn’t get an answer. There were no red flags or clues.

The pieces of the puzzle began to fall into place when Diane died of heart failure in 2016 at the age of 73.

Genomics is constantly evolving. Advances in technology have led to more effective ways to explore genes in greater detail and identify previously unknown genes and gene variants.

Before Diane’s death, the sisters provided blood samples to a geneticist who now works at Northwestern University.

When Dr. Liebman asked about a possible genetic link to Diane’s symptoms, Dr. Beth McNally, a cardiologist at Northwestern, said scientists had previously linked Diane’s DNA to cardiomyopathy. reported the discovery of a previously unknown genetic mutation. But it could be the answer. now.

At the time of its discovery, Dr. McNally said Diane’s gene was the only gene associated with cardiomyopathy. But as the years have passed and more reports have emerged of a possible link between genes and disease, “it’s becoming increasingly likely that this is a real link.”

Dr. Liebman and his family are Jewish, an ethnic group that is at high risk for a mutation that makes people more susceptible to deadly heart disease.

The photo shows Dr. Liebman’s father. [left] He died of a heart attack at the age of 66, next to his brother Cyrus. Their father David is seated on the far right. he died at the age of 41

“Recently completed small research study I asked if the mutation in my family was the main cause of DCM in Ashkenazi Jews. Our results suggest that possibility,” Dr. Liebman said.

mutation We changed a key part of our DNA. In some cases, this can lead to premature cessation of production of certain proteins, which can contribute to potentially fatal heart diseases like DCM, Dr. Liebman explained.

When she learned about the defective gene, which she believes was inherited from her father’s side, she alerted her entire family.

She said: “I have contacted all my cousins ​​and second cousins ​​who have a 12 per cent and 6 per cent chance of carrying the mutation respectively.”

“People who learned about my niece Karen’s death were immediately interested. People who I didn’t know and didn’t know Karen were sometimes skeptical about the relevance of my information. At first I thought I was part of a scam.”

Dr. Liebman also discovered that neither she nor her children carry this deadly genetic mutation, meaning they can no longer pass the gene on to future generations.

At last, Dr. Liebman thought he had an answer to the premature death that had plagued her family for generations. Finally, they could know for sure whether future generations of their families would face a similar fate.

DCM does not have to be fatal. This disease can be managed with a proper heart-healthy lifestyle, regular check-ups, echocardiography, and medications such as beta-blockers.

Dr. Liebman was photographed with her husband Alan at their wedding reception in 1969.

Dr. Liebman’s genetic search led him to reconcile the beliefs of his ancestors with the tragedy that befell them.

Dr. Michael Arad of Tel Aviv University said his team had identified 23 mutations in the new defective gene, and that the family that discovered the mutations was Ashkenazi Jewish, like Dr. Liebman and his family, and that it was the origin of the gene. He told her that he had a human gene. A gene that is present in the DNA of a small group of ancestors and is passed on to many descendants.

His research found that some people who died suddenly had no signs of impending death on an echocardiogram, the standard method for measuring the heart’s electrical activity.

All Ashkenazi Jews are descendants of an ethnic minority of fewer than 500 people in Eastern Europe, whose genetic origins are split evenly between Europe and the Levant, which is now part of Syria, Lebanon, Jordan, Israel, and Palestine. , and parts of Turkey and Iraq.

“Remarkably, the mutation in my family occurred in 1 in 800 Ashkenazi Jews, but was not present in other ethnicities,” she said.

As small populations reproduced with each other, defective genetic mutations spread to their offspring.

Dr. Liebman wondered why the family would lie about Eugene’s death more than a century ago, but now the mother is worried that her sons will be ostracized because of the known risk of death, and that she will not marry. I understand that he hid the truth because he didn’t want his prospects to disappear. In line with their condition.

Dr. Liebman wrote, “Marion’s imaginary shattered mirror and the resulting shards of broken glass are the embodiment of her perceptual fears about her family’s future.” are.

“Marion’s fears for her family as her premature death affected her descendants, including her 59-year-old mother, her 47-year-old mother, and her 66-year-old son, as well as later generations suffering from heart-related illnesses. turned out to be prophetic.

“Despite Marion’s hunch, there was nothing she could do.”

The lack of autopsies on Marion and her son obscures any genetic link to DCM, and early recognition and treatment may have saved future lives.

Dr. Liebman continued: “Grandma Marion modeled for us how to deal with loss by choosing to live her life accordingly.

“Little did she know, the cause of all deaths would be determined and genetic testing and early treatment would help end the family curse.”