Of one thing I have no doubt. The challenges and obstacles I have faced have also strengthened me, and overcoming them made me a better professional. I would never have imagined that 15 years after graduating—with a teenage daughter and working as a civil servant in the city of São Paulo—I would be heading to New York with a temporary visa, where I would reconnect with scientific research.
I am from São Paulo, the eldest daughter of four in a family of Arab descent. My father was a civil engineer and I initially considered studying exact sciences at college. I really enjoyed physics and mathematics. Engineering or physics seemed like natural choices to me. But when I was 13, my class presented a paper on cancer at my high school’s science fair. I do not even know why we chose the topic, but it included anatomical models, literature, and films. I loved it. After considering biological sciences, I eventually chose to study medicine.
In 1975, I was offered a place at several institutions, one of which was the University of São Paulo in Ribeirão Preto. There was some pressure from my family to stay in the capital, but my mother—who was a teacher—and father soon realized that medicine at USP was on another level, so off I went to the interior of the state. I fell in love with cardiovascular physiology, endocrinology, immunology… Actually, I really enjoyed it all. There were only a few areas that did not interest me, such as studies on lipids and genetics. The very fields that I’m working in today. Maybe because of their complexity, because I did not understand them back then—I do not really know. All I know is that I ended up doing a residency in cardiology.
My plan was to continue in academia, but I got pregnant and ended up separating from the father soon after. These events greatly changed the course of my life. I felt very fragile and because I had to raise my daughter alone, I moved back into my parents’ house. I got a job at Beneficência Portuguesa Hospital as part of a large cardiology team. I felt like it was a good opportunity and I was able to seize it with the support of my family. For a while I stayed in this area of surgical cardiology, with some clinical practice but no research. It was then that I met cardiologist Francisco Antônio Helfenstein Fonseca, who I went on to marry.
In 1985 I took the exam for a position as a public servant and started the following year. I was exhausted from working shifts and I hardly ever saw my daughter, who was still so young. That worried me a lot. At city hall I did a little bit of everything: from medical expertise to emergency healthcare. But then something unexpected happened. In the early 1990s, my husband decided to return to academic life and started a graduate course at the Paulista School of Medicine of the Federal University of São Paulo [UNIFESP]. In 1995, he was invited to do a postdoctoral fellowship at a university in New York and I decided to go with him. I only had a temporary visa, but I was able to do a specialist diploma in experimental cardiology at New York University, where I studied coronary angioplasties in pigs.
At that time, I was not planning any major changes in my life, but over time and thanks to this specialist course I took, a new scenario began to take shape. I fell so in love with research—looking for answers was so exciting—that I became sure that somehow, I wanted to get back into it full time. I just did not know how or where. As soon as I returned to São Paulo, I started looking for a graduate course. I ended up applying to do a PhD at UNIFESP. In 2001, exactly 20 years after I first graduated, I received my doctorate. I was 43 years old and nine months pregnant with my second daughter.
The theme of my PhD arose from my experience at UNIFESP laboratories. In the late 1990s, many scientists were trying to assess and predict cardiac risks through different means, including genetics. When I started my thesis research, my knowledge in the area was almost nil. I had to learn basic techniques that could be used to identify genetic polymorphisms related to premature coronary heart disease. With this type of data, I looked at several biomarkers—for hemostasis, apolipoproteins, and platelet aggregation—in men who had heart attacks before age 45 and women who had one before age 55. I followed the clinical and laboratory journey of almost 240 patients to gain insight into the origin of the main risks of heart disease. The results were published in my thesis: “Risk factors, biochemical markers, and genetic polymorphisms in premature coronary artery disease.”
After finishing my PhD, I started studying genetic polymorphisms, initially linked only to coronary disease and diabetes. Over time, I started looking at rarer diseases. I began with familial hypercholesterolemia (FH), a genetic disease characterized by very high cholesterol levels that can lead to heart attacks before age 50.
This disease is considered rare more because of a lack of awareness among health professionals than because of its incidence. In fact, its estimated prevalence is 1 in every 250 individuals worldwide. In other words, it is an underdiagnosed and consequently undertreated disease. The frequency can even be higher depending on the group studied, such as among people involved in consanguineous marriages, for example, something common in small towns in rural Brazil. In this study, I turned once more to genetics and lipids. This is the path the world takes you on sometimes.
For the last two years, we have been building a national database here at UNIFESP of patients with familial hypercholesterolemia. The objective is to annually systematize all the information about these cases: when they were diagnosed, how they were treated, what medication was prescribed, and the occurrence of any cardiovascular events.
Records like this are extremely important not just for those affected directly. They also help to show health managers that not every drug indicated for lowering cholesterol solves the problem for some patients. In the national public healthcare system, there is no line of care for individuals suffering from diseases such as FH and there are no free genetic tests. We are stuck between “it might be” and “it might not be.” When FH is suspected, it is essential to identify the index patient and their family members, which involves cascade tracking to determine the genetic alterations that cause the disease in individuals from the same family. But a genetic diagnosis like this is expensive and is not available through SUS, Brazil’s public healthcare system.
We are also working on a national database of patients with familial chylomicronemia syndrome (FCS), a genetic disease whose main feature is elevated triglyceride levels and consequent pancreatitis. In the case of the FCS, these records are crucial because they tell us the particular characteristics of patients who do not respond to commonly used drugs and do not have access to innovative but very expensive new medications. Unlike HF, which responds to conventional treatment—although it is also expensive—FCS does not. Although promising new drugs are becoming available, patients cannot access them because the disease remains unknown or not recognized by the public health system.
In my professional life, opportunities were born out of coincidences, chance encounters, and accidents. That is how I found myself. Now I am here at UNIFESP teaching cardiology and studying the prevention of cardiovascular disease at various levels. I love my work.Republish