His sickness, according to the physicians, is mental. This scientist is dedicated to figuring out the truth. - Liberty

Thursday, October 5, 2023

His sickness, according to the physicians, is mental. This scientist is dedicated to figuring out the truth.

Geneticist Marlena Fejzo suffered from hyperemesis gravidarum, which she identified as the source of her sickness and used as a lifeline.

Hyperemesis Gravidarum
Hyperemesis gravidarum, a pregnancy condition characterized by nausea and vomiting so severe that it can cause devastating complications for the mother and fetus, has long been poorly studied and recognized. Meggie Shannon

FEFUM — Manipulating a neat wooden desk at eye level in the corner of the bedroom was the one sheet of paper that Marlena Feiso had kept for 24 years.

This is a portrait of her 31-year-old Dr.Faizo who went through the worst ordeal of her life. Her face and body are painted pale green and sick yellow, with tears lingering on her sunken cheeks. The only thing she remembers from that time is her sister's colored pencil drawing in 1999. Some of the photos her mother took were "too bad" to save, said Dr. Fejzo, now 55.

She knew that small seas and vomiting during pregnancy were normal.

She couldn't go to work, she couldn't take care of her little boy, and she couldn't swallow a teaspoon of water. Her empty gastrointestinal tract cramped so violently that it lasted so long that she could not breathe.

For at least one month of her life, Dr. Fejzo was unable to eat or drink and was hydrated by an IV. Her weight dropped from her already tiny 105 pounds to her 90 pounds. After that, she became too weak to get on her scale.

"I was starving," she said.

Finally, her doctor agreed to insert a catheter into a large vein near her heart to feed her, but Fejzo believes it was too late for this step. At 15 weeks of gestation, the fetal heart stopped beating.

Dr. Fejzo was devastated. "All suffering is free," she said.

Her Dr. Fejzo, then a postdoctoral fellow at the University of California, Los Angeles, is now an undergraduate in Obstetrics and Gynecology at the University of Southern California, Keck School of Medicine.

During her pregnancy, she suffered from hyperemesis gravidarum. Her symptoms included dehydration, weight loss, electrolyte imbalance, and very severe and persistent nausea and vomiting that could lead to hospitalization.

This complication is rare and affects about 2% of pregnancies, but the consequences can be devastating. In this study, a woman describes her experience with this condition in harrowing terms. "I wanted to die," she wrote.

Some felt “miserable and hopeless.” Or she's lonely and abandoned, referring to suicide. She said, "When I woke up in the morning, I sobbed to find out she was still alive."

Hyperemesis Patients
In a recent survey of more than 5,000 hyperemesis patients, 52% were considering terminating the desired pregnancy and 5% were pregnant. 32% reported having suicidal thoughts. Maggie Shannon

However, despite the severity of nausea as it is colloquially called, doctors often take longer to treat it.

"My doctor thought it was all in my head," he said. I told her it was a ruse.

Dr. Fejzo was furious that her doctors attributed her suffering to mental illness. So she made it her life's work to find the true cause of this condition.

Interrupted Career

Marlena Fejzo grew up a few miles away from her current home in the affluent Brentwood neighborhood of Los Angeles. There she hums along with her cousins and her friends as she is one of her four brothers and sisters. She says she spent her charming California childhood skiing in Mammoth Mountains, hiking in Yosemite National Park, and vacationing in Palm Springs.

She graduated from the prestigious Harvard Westlake School (then Westlake School for Girls) with top grades in high school and studied Applied Mathematics at Brown University.

In her third year at Brown University, she was fascinated by an introductory class in genetics, and she decided to pursue a Ph.D. in this field at Harvard University. This came as a surprise to her family of lawyers, linguists, and musicians.

As a graduate student at Harvard University, Dr. Fejzo discovered two of her genes involved in the development of uterine fibroids, and her work received national recognition from the American Society of Human Genetics.

Cynthia Morton, professor of obstetrics, gynecology, and reproductive biology at Harvard Medical School, said it's a rare honor for a young scientist, especially one working on health problems that don't affect men. Said. Said.

In 1995, Dr. Fejzo began a fellowship as a Postdoctoral Fellow in Breast Cancer Genetics at the University of California, San Francisco. During her tenure, she held a faculty position in the genetics of the states that affect her track and women. I turned to her study career.

Within weeks of being pregnant with her first child in 1996, she was hit with constant nausea and vomiting. Still, she could hardly eat, could not work for eight weeks, and she had to be put on an IV twice because of her dehydration.

Approximately 70% of pregnancies present with some degree of nausea and vomiting, but healthcare providers can take the time to differentiate between normal morning sickness and hyperemesis and provide treatment. Maggie Shannon

This was the first time Dr. Fejzo experienced hyperemesis, but her doctor at the time did not give her the name of her illness or recommend her medication.

By her second trimester, she felt good enough to return to her job and the rest of her pregnancy was normal.

Dr. Fejzo's second pregnancy occurred in her 1999, two years later. She moved back to Los Angeles and enrolled at U.C.L.A. That's when she went through the worst ordeal of her life, which she said led to her 10 weeks of serious illness and a miscarriage.

Dr. Fejzo's sister, Melanie Schoenberg, now 45 and a public defender for Los Angeles County, recalled seeing her after her ordeal. She was in a wheelchair, too weak to walk, wrapped in her blanket, sobbing and shivering with grief.

"She looked like a ghost," Schoenberg said. "Like a pile of bones"

underresearched state
At the age of 31, Dr. Fejzo, regaining his powers, made two decisions that would change his life. At first, she said she would not attempt another pregnancy, but her twin daughters were later born with the help of her surrogate mother. Second, she was determined to find out what was causing her emesis.

She searched the medical literature for clues. Why was she so ill when most pregnancy symptoms were much milder? "Nothing was known," she said. "There was very little research."

About 70% of pregnancies have some degree of nausea and vomiting, but it's usually not dangerous, says Dr. Trovik. Healthcare providers may take time to distinguish between the more common morning sickness and the rare but more severe emesis and offer treatment, including medication and nutrition.

Marlena Fejzo
"What happened to me was so devastating that I don't want it to happen to anyone else. We talked about firing the state." Maggie Shannon

Before intravenous drips became routinely available in the 1900s, hyperemesis was a frequent cause of death in pregnant women, and the medical literature cited it as a reason for inducing abortion because the mother's life was in danger. Adversity was mentioned. Excessive vomiting was noted. finished. Some experts believe that writer Charlotte Brontë most likely died of hyperemesis in 1855, rather than tuberculosis, which was listed on her death certificate.

Today, Death from hyperemesis is rare, but it does occur as do serious complications.

Electrolyte imbalances caused by excessive vomiting and dehydration can lead to arrhythmias and cardiac arrest. It can lead to miscarriage, brain damage, and death.

Hyperemesis is also associated with an increased risk of pregnancy complications such as preterm birth, pre-eclampsia, and blood clots.

A recent survey she conducted of more than 5,000 of her hyperemesis patients in the UK found that 52% had considered terminating the desired pregnancy and 5% had done so. 32% reported having suicidal thoughts. A 2022 study found that hyperemesis was one of the main predictors of postpartum depression.

Most babies born in hyperemesis pregnancies are healthy, but recent studies show a slightly increased risk of low birth weight, and a slightly increased risk of developing cognitive, mental health, and behavioral problems in childhood. Researchers hypothesize that these effects may be caused by malnutrition and intrauterine stress.

For the past 100 years, doctors have argued that nausea is an unconscious attempt to "oral abortion" as if you were giving up on a pregnancy, but there is no evidence. rejection of femininity; cold products; and strategies for taking a “timeout” from stressful household responsibilities. Or, as Dr. Fejzo's doctor told her, a bid for her attention.

As a result, women have often been blamed and punished for their illnesses. In the 1930s, patients hospitalized with hyperemesis were "denied of the comfort of a vomit bowl" and forced to lie down in their vomit.

To date, patients hospitalized with this condition may be isolated in darkened rooms and denied access to visitors or cell phones. It is based on the theory that it is caused by an unconscious refusal to conceive and that isolation leads one to accept the pregnancy.

He said the conduct was "misogynistic" and "indefensible", but issued new guidelines containing statements condemning the conduct, at least occasionally, in France and elsewhere in Europe.

Dr. Fejzo was plagued by the lack of effective treatments and dismissed as having psychological causes for his illness. She thought nothing would change as long as the true cause of her condition was unknown.

10 years Friday

When Dr. Fejzo returned to her UCLA lab after her miscarriage, she told her boss, the head of her genetics department, that she wanted to find out what was causing her hyperemesis. "She just laughed at me," Dr. Fejzo said.

Unable to find a mentor interested in hyperemesis, Dr. Fejzo took a job researching ovarian cancer at a university. She remained in the position mostly part-time for 20 years. But she began putting together her research on hyperemesis in the evenings and weekends, and on Fridays when she wasn't working in her lab.

Her brother Rick Schoenberg, 51, a statistician at UCLA, helped her create an online survey of hyperemesis patients, and the Hyperemesis Education and Research (HER) Foundation funded her research. bottom. under. In 2005, she provided a small grant to her collaborator, Dr. Fejzo. Dr. Fejzo also began working with obstetricians and gynecologists at the University of Southern California.

After tallying her survey responses, "it quickly became apparent that it was running in her family," she said. I was like, 'My sister has it.

In 2011, Dr. Fejzo and her collaborators published their findings in the American Journal of Obstetrics and Gynecology. Women with hyperemesis sisters were found to be 17 times more at risk than those without.

Dr. Fejzo knew that DNA analysis was important for understanding the genetics of hyperemesis. So in 2007, she began collecting saliva samples from symptomatic and non-symptomatic people.

She called her study participants (more than 1,500 in total) every Friday for her 10 years to ask for her medical records and consent to participate, and collected saliva collection kits from her home. . she mailed

But Dr. Fejzo didn't know how to pay for her own genetic analysis. Her grant application to the National Institutes of Health was denied. Since 2007, her institution has funded only her six hyperemesis studies totaling $2.1 million.

That amount is small compared to the state's financial burden, said Kimber McGibbon, executive her director of the HER Foundation. (Amy Schumer, who has publicly documented her struggle with hyperemesis, sits on the foundation's board of directors.)

Hospitalizations for hyperemesis are thought to cost patients and insurers about $3 billion a year due to complications such as medications, home care, unemployment, and postpartum depression.

'This is it'
Dr. Fejzo got her 23andMe DNA test kit from her brother on her 42nd birthday because she didn't have the funds to analyze the saliva samples that had accumulated in her lab's freezer. . She found another way.

After registering her kit, she will receive her regular email, offering her the option to participate in the company's research studies by completing her online survey and consenting to the use of her genetic data. Below.

"I saw what they were doing and thought it was great," she said.

She asked her 23andMe if they would include questions about nausea and vomiting during her pregnancy in her customer surveys, and they agreed. Years later, she worked with the company to scan the genetic data of tens of thousands of her 23andMe customers, looking for variations in her DNA associated with the severity of nausea and vomiting during pregnancy. The results were published in her Nature Communications in 2018.

Several genetic mutations were reported to be very different, but the most prominent was a genetic mutation that makes a protein called growth differentiation factor 15 (GDF15). Dr. Fejzo had never heard of it, but as soon as she started reading about it, she remembered, "Oh my god, this is it."

GDF15 was previously shown to act on portions of the brainstem that suppress appetite and induce vomiting, causing appetite and weight loss in cancer patients. Blood levels of protein naturally increase during pregnancy and are found to be even higher afterward in those with severe nausea and vomiting.

The researchers speculate that GDF15 may have evolved to allow pregnant women to detect and avoid unsafe foods that could harm fetal development during early pregnancy. In hyperemesis, however, this normal protective mechanism appears to work in overdrive. This is at least partly because he has too much GDF15, said Stephen O'Lahilly, director of the Department of Metabolic Diseases at Cambridge University. he said. GDF15 survey.

In a study published in 2022, Dr. Fejzo and her colleagues identified an association between hyperemesis and her GDF15 in patients she enrolled Friday over her 10-year period. This analysis was performed for free by the biotech company Regeneron.

When the study was published, Dr. Fejzo wrote on Twitter, "My life's work is done."

But she's not done. She said several pharmaceutical companies have started trials of her GDF15 her-based drug. The drug, which aims to reduce nausea and improve appetite in cancer patients, has promising early results. Watching carefully.

Several researchers are working on similar anti-nausea treatments, Fejzo said. Among them is a newly formed company called Materna Biosciences, which has hired Dr. Fejzo as Chief Scientific Officer.

Fejzo said there are major hurdles to trying new drugs during pregnancy, but if done carefully, this step could improve treatment options for hyperemesis patients, with GDF15 being a major contributor to the condition. You can clearly show that

Dr. Fejzo hopes that her belief that the symptoms are psychological will eventually come to an end.