Susan Weiss Liebman spent years searching for the tiny genetic mutation hidden in her family’s DNA that had been causing unexplained sudden deaths for generations.
His investigation, detailed in his new book The dressmaker’s mirror, began with the sudden – and inexplicable – death of his niece Karen.
Dr. Susan Weiss Leibman’s book is part memoir, part exploration of genomics, and part mystery, as she attempts to piece together the root cause of her family’s premature deaths.
Karen was 36, otherwise healthy and pregnant when she collapsed in a Brooklyn restaurant in 2008 from Dilated cardiomyopathy (DCM), a disease that causes the heart to become weakened, enlarged, and enlarged. unable to pump blood effectively.
It was the same problem Karen’s mother Diane had been dealing with for years. It was genetic, but no one would learn that for almost a decade.
Dr. Liebman writes: “This meant that Diane’s illness was genetic and was not a complication of a viral infection, as doctors previously thought. Instead, Diane passed on a deadly gene to Karen.
“We had to find the mutation before God’s cruel game of Russian roulette wiped out more family members.”
The tragedy, nearly a year after her father’s sudden and fatal heart attack at age 66, prompted the 78-year-old to use her expertise as a geneticist to find an answer. She pored over research and corresponded with experts in the field about the latest discoveries about the variations in human DNA that make a person who they are.
Dr. Liebman soon learned that many members of his family had inherited a potentially fatal genetic mutation responsible for the production of a protein essential for maintaining the function and structure of muscle cells, including those that make up the heart.
Dr. Susan Weiss Liebman’s new book, The Dressmaker’s Mirror, is both a memoir and a genetic exploration, tracing generations of her family marked by sudden deaths.
When Dr. Liebman was a child, she heard the story of the untimely death of her father’s brother, Eugene.
Eugène was only four years old when he was crushed to death by a falling mirror in 1916.
Her family members tried to take the mirror away from her, but it was too late and the story haunted Dr. Liebman for decades – until she learned it was a lie.
The four-year-old’s death certificate made no mention of an accident, mirror or crushing. In reality, the child died of congestive heart failure after a five-day hospitalization.
The death was not a freak accident. He had inherited a killer gene which then brought Dr. Liebman’s grandmother, father and niece, among others, into his family tree.
Her father never knew the family’s dark secret, and she only learned the truth after being an accomplished geneticist for three decades.
She said: “I have always considered genetics as part of my career. I studied it as an undergraduate at the Massachusetts Institute of Technology (MIT) and a graduate student and postdoctoral fellow at Harvard and the University of Rochester.
“I understood that genetics determined my eye and hair color, hand and other features, but I never thought it would have a significant impact on my real life. Now everything has changed.
Dr. Liebman’s niece Karen is pictured with her husband Andrew. Couple shows off Karen’s baby bump just one day before her fatal heart attack
The search for the culprit took years and several rounds of testing on the DNA of Dr. Liebman and his sister Diane.
On every test, they had no answers. There were no red flags or clues.
It wasn’t until Diane died in 2016 at the age of 73 from heart failure that the pieces of the puzzle began to fall into place.
Genomics is constantly evolving. Advances in technology are providing more efficient ways to explore genes in more detail and identify previously unknown genes or genetic variants.
The sisters had provided blood samples to geneticists currently working at Northwestern University before Diane’s death.
When Dr. Liebman contacted them to ask about the potential genetic link to her condition, Northwestern cardiologist Dr. Beth McNally announced that scientists had discovered a genetic variation in Diane’s DNA that did not had never been associated with cardiomyopathy – but this could be the answer. NOW.
Dr. McNally said at the time of the discovery that Diane’s gene was the only one associated with cardiomyopathy. But as the years passed and more reports potentially linked the gene and the disease, it “became more likely that this was a true association.”
Dr. Liebman and his family are Jewish, a population at higher risk of suffering from the mutation that makes them more prone to fatal heart disease.
Pictured is Dr. Liebman’s father (left), who died at age 66 of a heart attack, next to his brother Cyrus. Their father David is seated on the far right. He died at 41
“I recently completed a small study that asked whether the mutation in my family was a major cause of DCM in Ashkenazi Jews. Our results suggest that this is the case,” said Dr. Liebman.
The mutation altered a crucial section of DNA. In some cases, Dr. Liebman says, this can lead to premature cessation of production of a certain protein, which can contribute to life-threatening heart conditions like DCM.
When she learned about the defective gene, which she believed was passed down from her father’s side, she alerted everyone in her family.
She said: “I contacted all first and second cousins who, respectively, had a 12 percent and 6 percent chance of having the mutation.”
“Those who knew about my niece Karen’s death were immediately interested. Those I didn’t know and didn’t know Karen were sometimes skeptical about the relevance of my information and at first thought I might be part of a scam.
Dr. Liebman also discovered that neither she nor her children carried this deadly genetic mutation, meaning they could no longer pass the gene on to future generations.
Finally, Dr. Liebman thought, they had an answer to the untimely deaths that had tormented his family for generations. Finally, they could know for sure whether future generations of their family would experience a similar fate.
DCM does not have to be fatal. It can be managed with appropriate heart-healthy lifestyle factors, regular checkups, echocardiograms, and medications such as beta blockers.
Dr. Liebman is pictured with her husband Alan at their wedding reception in 1969.
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In her genetic exploration, Dr. Liebman was led to reconcile her ancestral faith with the tragedies that had befallen her.
Dr. Michael Arad of Tel Aviv University, whose team had identified 23 mutations in the new defective gene, told him that the families he had seen with the mutation were of Ashkenazi Jewish origin, as was the Dr. Liebman and his family, making it a founder gene – a gene present in the DNA of a small ancestral population and passed down to a large number of descendants.
His research found that some people who died suddenly showed no signs of impending death on echocardiograms, the standard method for measuring the electrical activity of the heart.
All Ashkenazi Jews are descended from a small population of fewer than 500 people in Eastern Europe whose genetic origins were evenly distributed between Europe and the Levant, which today covers parts of Syria, Lebanon, of Jordan, Israel, Palestine and part of Turkey and Iraq.
“Remarkably,” she says, “the mutation in my family occurred in one in 800 Ashkenazi Jews, but was not present in other ethnic populations. »
As the small population bred among themselves, the faulty genetic mutation spread among their offspring.
While he didn’t understand why the family lied about Eugene’s death over a century ago, Dr. Liebman now understands that his mother hid the truth because she didn’t want her sons to be ostracized and with no prospects of marriage due to the known risk of death. depending on their condition.
Dr. Liebman wrote: “Marion’s imaginary broken mirror and resulting shards of glass embody her insightful fears for her family’s future.
“Marion’s fears for her family proved prophetic, as premature deaths struck her descendants, including her own at age 59, her mother at 47, her son at 66, and subsequent generations suffering from heart problems.
“Despite Marion’s premonition, there was nothing she could do.”
The lack of autopsies for Marion and her son obscured the genetic link to DCM, which could have saved future lives with earlier awareness and treatment.
Dr. Liebman continued, “Grandma Marion showed us how to deal with loss by choosing life in response to grief.
“What she couldn’t have known was that we would know the cause of all deaths and that this would allow for genetic testing and early treatment to end the family curse.”