After geneticist Marlena Fejzo inexplicably became "so ill that she couldn't move without vomiting" during pregnancy, she dedicated her life's work to finding the true cause of her symptoms — a rare, "devastating" condition that only affects about 2% of pregnancies, Alice Callahan writes for the New York Times.

'Every living moment was torture'

While some nausea and vomiting is expected during pregnancy, Fejzo became seriously ill when she was pregnant with her son, then again when she was expecting her second child.

In 1996, when Fejzo was a few weeks into her first pregnancy, she experienced constant nausea and vomiting. While her symptoms were not as severe during her first pregnancy, she could still hardly eat and could not work for eight weeks. In addition, she needed IV fluids for dehydration twice.

Then, when she became pregnant for a second time in 1999, Vejzo "experienced the worst ordeal of her life, leading to 10 weeks of severe illness and her miscarriage," Callahan writes.

"She couldn't go to work or care for her little boy, or swallow so much as a teaspoon of water, let alone a bite of toast or a prenatal vitamin," Callahan writes. "Her empty gastrointestinal tract would spasm so violently and for so long that she couldn't breathe."

"Every living moment was torture," Fejzo said.

For several weeks, Fejzo was unable to keep down any food or drink, and she had to have fluids administered through an IV. She dropped from 105 pounds to just 90 pounds before she became too weak to even step on a scale.

"I was starving," she said, "and the doctor just kept trying higher doses of drugs and different drugs, and nothing helped."

Fejzo's doctor agreed to administer liquid nutrients through a catheter in a large vein near her heart. However, the fetus's heart stopped beating at 15 weeks, leading Fejzo to believe this step came too late, Callahan writes.

Ultimately, doctors determined that Fejzo had suffered from a condition called hyperemesis gravidarum during her pregnancies. According to Callahan, this condition causes "nausea and vomiting so severe and relentless that it can cause dehydration, weight loss, electrolyte imbalances and hospitalization."

Finding the cause of  hyperemesis

When she turned 31, Fejzo started to regain her strength, and she made two life-altering choices. First, she decided not to get pregnant again, instead choosing to use a surrogate to have her twin daughters. Second, she became determined to identify the cause of her hyperemesis.

As Fejzo searched medical literature for clues, she soon learned how little experts knew about the condition. "Nothing was known," she said. "There was so little research."

According to Jone Trovik, a gynecologist and a professor of clinical science at the University of Bergen in Norway, the condition has been under researched and under diagnosed for years, largely because nausea and vomiting occur in roughly 70% of pregnancies.

Providers can be slow to distinguish between common "morning sickness" and the rarer — but more severe — hyperemesis, which often leads to delayed treatment, Trovik noted.

Following her miscarriage, Fejzo returned to her lab as a postdoctoral fellow at the University of California, Los Angeles (UCLA). When she told her boss, the chair of the genetics department, that she wanted to find the cause of hyperemesis, "She just laughed at me," Fejzo recalled, "like it was a joke."

When Fejzo failed to find a mentor interested in the condition, she took a job studying ovarian cancer at UCLA. She started to compile research on hyperemesis during her free time when she was not working in the lab.

Rick Schoenberg, Fejza's younger brother and a statistician at UCLA, helped her create an online survey of hyperemesis patients, and the Hyperemesis Education and Research Foundation supplied collaborators and small grants to help fund her work. In 2005, Fejzo also started partnering with obstetrician-gynecologists at the University of Southern California.

Fejza soon noticed a pattern in the survey responses, "I saw right away that it was running in families," she said. "The answers kept coming in where people were like, 'Yeah, my sister has it; my mom has it.'"

Years later, Fejza partnered with 23andMe to gather and analyze genetic data from tens of thousands of consenting 23andMe customers who answered questions about nausea and vomiting in pregnancy.

"A handful of gene mutations were flagged as significantly different, but the most striking was for one that makes a protein called growth differentiation factor 15 [GDF15]," Callahan writes. Fejzo had never heard of the gene mutation, but when she started researching it, she came to a realization. "I was like, 'Oh my God, this is it,'" she said.

In a study published last year, Fejzo and her colleagues confirmed the link between hyperemesis and GDF15.

'If I don't keep going, who will?'

After the findings were published, Fejzo wrote on Twitter, "My life's work is out."

Now, several pharmaceutical companies are testing GDF15-based drugs intended to reduce nausea and improve appetite in cancer patients, and a smaller number are developing similar drugs for hyperemesis, Fejzo said.

Still, Fejzo noted that there are significant challenges associated with testing new medications in pregnant people. However, if conducted carefully, this could improve treatment options for hyperemesis and definitively prove that GDF15 causes the condition.

Ultimately, Fejzo hopes that the idea that hyperemesis is psychological can finally be put to rest.

"I would be devastated to see my daughters go through this without having tried everything in my power to make things better," Fejzo said. "If I don't keep going, who will?" (Callahan, New York Times, 3/14)