Medical Science Researcher of Understudied Illness
Told her illness was merely ‘in her head’, this scientist embarked on a quest for the truth. It would take her persistence for over a decade but eventually she succeeded in demonstrating the seriousness of the disease and suggesting further avenues to provide treatment.
FAMILY BACKGROUND
MF grew up as one of four siblings in a household humming with cousins and friends. She is the granddaughter of the Austrian composers Arnold Schoenberg and Eric Zeisl. A younger brother would eventually become a statistician who helped MF with an important scientific project when they were both adults.
CHILDHOOD INTERESTS
To their credit, MF’s parents never directly advised her what work to do as an adult. But as the child of parents who loved pursuing their own interesting careers, MF was indirectly influenced to follow her own interests toward a useful, adult career path.
Most important, MF’s parents never tried to stifle their daughter’s constant curiosity about the world. And they never told her to “just be quiet and accept what we know.”
EDUCATION
Dedicated to her schoolwork throughout her days in elementary, middle, and high school and graduating near the top of her class from an academically challenging high school, MF was admitted to an Ivy League university, where she studied applied math.
While a junior at the university, an introductory genetics class captured her interest, so she decided to pursue a doctorate in the field at another Ivy League university – a surprise to her family of lawyers, language scholars and musicians.
As a graduate student, MF discovered two genes involved in the development of uterine fibroids and she received national recognition for her research from the American Society of Genetics.
FIRST STEP INTO A CAREER IS NEVER A BINDING COMMITMENT
MF began a post-doctoral fellowship in breast cancer genetics, setting her sights on a tenure track faculty position and a career researching the genetics of conditions that affect women.
PERSONAL CIRCUMSTANCE MAY MOTIVATE A CAREER
Soon after receiving her Ph.D., MF was married. The new couple then wanted to start a family. Within a few weeks of becoming pregnant with her first child, MF was hit with constant nausea and vomiting – similar to the symptoms that would afflict her second pregnancy, though not yet as severe. Still, she could barely eat and was unable to work for eight weeks, twice needing IV fluids for dehydration.
This was MF’s first experience with hyperemesis, though her doctor at the time never told her the name of the condition or offered medication to treat it. By her second trimester, MF felt well enough to return to work and the rest of her pregnancy was normal. “When my son was born, I was ecstatically happy and it was all great, which is why you do it again,” MF later recalled. Her second pregnancy came two years later. That was when she experienced the worst ordeal of her life, leading to 10 weeks of severe illness and her miscarriage.
Now age 31, MF regained her strength and made two life-altering decisions. First, she wouldn’t try another pregnancy; her twin daughters would later be born with the help of a surrogate. Second, she was determined to find the cause of hyperemesis.
CHALLENGE – LACK OF PROFESSIONAL RESPECT FOR A NEW IDEA
Hyperemesis had long been under researched and under recognized, in part because about 70 percent of pregnancies come with some degree of nausea and vomiting (sometimes called ‘morning sickness’) which is usually not dangerous. “Healthcare providers can be slow to differentiate between the more common morning sickness and the rare but more severe hyperemesis, and to offer treatment, including medications and nutrition,” noted MF. Today, deaths from hyperemesis are rare but they do occur, as do serious complications.
When MF returned to her lab at the university after her miscarriage, she told her supervisor, the chair of the genetics department, that she wanted to find the cause of hyperemesis. “She (her boss) just laughed at me,” MF said, “like it was a joke.”
SCIENTIFIC RESEARCH OF AN UNDER-STUDIED ILLNESS
Unable to find a mentor interested in studying hyperemesis, MF took a job studying ovarian cancer at the university, a position she stayed in, mostly part time, for the next 20 years. But she began piecing together research on hyperemesis during her evenings and weekends and on Fridays when she wasn’t working in the lab.
MF’s younger brother is a statistician at the same university. He helped her create an on-line survey of hyperemesis patients and a Hyperemesis Foundation offered collaborators and small grants. Eventually, MF partnered on this project with obstetrics / gynecologist (‘ob gyn’) experts at another university.
Tallying survey responses, “I saw right away that it was running in families,” MF said. “The answers kept coming in where people were like, ‘Yeah, my sister has it; my mom had it.’”
In 2011, MF and her fellow medical researchers (called – in academia – ‘collaborators’), published their findings in the American Journal of Obstetrics and Gynecology. Women who had sisters with hyperemesis, they found, had a 1`7-fold higher risk of developing the condition than those who didn’t, providing some of the first clear evidence that the condition could be passed down from parents.
MF knew that DNA analysis would be crucial to understanding the genetics of hyperemesis. So, she began collecting saliva samples from people who had experienced the condition and from those who hadn’t. Every Friday for 10 years, she called study participants – more than 1,500 in all – to request their medical records and consent to participate and mailed them saliva collection kits from her home. But MF wasn’t sure how she would pay for the genetic analyses since her grant proposals to the NIH (National Institutes of Health) were rejected. (From 2007 to 2023, the NIH has funded only 6 hyperemesis studies at a cost totally $2.1 million.)
The NIH funding level for hyperemesis studies is small compared with the economic burden of the condition, noted the executive director of the Hyperemesis Foundation, which estimates cost to patients and their insurers about $3 billion annually, not including the expenses of medications, home health care, lost work, and complications like postpartum depression.
Without funding to analyze the saliva samples accumulating in the lab freezer, MF found an alternative strategy when her older brother gave her a 23andMe DNA testing kit for her birthday. She persuaded the DNA testing company to add a few more questions relevant to studying hyperemesis, to their survey and eventually the results were published in the journal Nature Communications in 2018.
Studying the data, MF discovered a protein called “growth differentiation factor 15” which she had never heard of and as soon as she read more scientific literature about it, concluded that “Oh my God, this is it!” she recalled.
The scientific community soon agreed.
CAREER SATISFACTION
MF’s early professional recognition for her study of female genes was a rare honor for a young scientist, particularly one working on a health problem that didn’t affect men, noted a fellow scientist, a professor of obstetrics, gynecology and reproductive biology and MF’s doctoral advisor. Continued her professional colleague about MF: “She was a hard worker and dedicated to the work. She could do anything.”
Although MF and her collaborators have now found the genetic link to a disease which is now taken more seriously by medical practitioners who can intervene earlier with more effective treatments, MF declares that she is not done with promoting continuing research, especially into its treatment. While there are significant hurdles to testing new medications for hyperemesis, MF said it could be done carefully, which should finally put to rest the idea that ‘morning sickness’ – in any degree of discomfort – is merely psychological.
“I would be devastated to see my daughters go through this without having tried everything in my power to make things better,” said MF. “If I don’t keep going, who will?”
This career story is based on several sources: an article written by Alice Callahan, published within the NY Times on 3/15/23 and online research including Wikipedia.
