There really isn’t much to it. I guess you can say that I grew up around medicine; my father was a physician. Studying medicine and caring for people was just a fact of life. Physicians were never mystical gods; to me, they were just people. I was good at math and science, and at one point during my high school career, my dad admitted that he had raised me to be a doctor and offered to introduce me to a female lawyer if I’d like to be exposed to a different career!
I studied medicine at Northwestern University in Chicago and decided upon a residency at Mayo Clinic because of the excellent training opportunities available. I admit that as a young single woman, the prospect of living in a small town in the rural Midwest was not the most appealing. “It’s only for a few years,” I told myself.
My husband David and I met during the first month of my internal medicine residency. He had just joined the Mayo Clinic faculty in cardiology. Suddenly Rochester Minnesota didn’t seem so bad.
I admit that throughout my residency I tried to find reasons to not like cardiology: the long hours, the time on call, and not the least was the question of whether two cardiologists could make a relationship work and find jobs in the same locale. One day I had an epiphany: I asked myself, “why should I give up a field that I love just because David got there first?” I decided to specialize in the exciting, dynamic field that I love. David and I have found both advantages and disadvantages to being a two cardiologist family, but the professional opportunities both of us have been afforded at Mayo, and the fact that we both have been able to do what we are best at has been well worth it.
Early on in my career, there was mounting evidence in the cardiology literature that women had worse outcomes after heart attacks or heart failure than men. Women’s heart disease was being misdiagnosed, diagnosed late, and once diagnosed, not treated as intensely or appropriately compared with treatment in men. In fact, in the 1980’s and 1990’s most physicians and patients didn’t think women even got heart disease, and if they did, it wasn’t until they were really, really old. Most of the research studies were designed only for men, and virtually all the drug trials and treatment outcome data were based on male subjects. It was assumed that the same treatments would work for both men and women. It was also easier and cheaper to only study only one sex; women (and their hormones) were considered too complicated to study.
In 1998 I founded the Women’s Heart Clinic at Mayo Clinic and started my journey of sex- and gender- specific practice and research in cardiology. What many people don’t realize is that every cell in our bodies has a sex. With that knowledge, we should be considering sex and gender in evaluating diagnostic tests, treatments and research into heart disease. I saw firsthand in my practice, that many times in cardiology, what was good for the gander was NOT good for the goose. Back then deaths from cardiovascular disease were dropping precipitously for men and still rising among women. It was a perfect storm. When I cared for men with heart disease, I had research to back my recommendations. In contrast, there was no research to back my recommendations for my female patients. Both men and women benefit from gender-specific medical research.
Activism and Research
It had long observed that activated and educated “e-Patients” (those who are equipped, enabled, empowered, expert) really had the potential to advance women’s health and drive policy. As a natural extension of that, since 2002 I’ve served as the volunteer medical director for the WomenHeart Science and Leadership Symposium for Women with Heart Disease, an annual program aimed at training women with heart disease to become advocates, educators and support network coordinators. At the beginning of the first evening session, the participants have an opportunity to express why they are at the Symposium. In 2009, in a room of about sixty women, three of them said that they had spontaneous coronary artery dissection (SCAD), which seemed like a lot to me. At a coffee break the next day, Katherine Leon, one of the participants who suffered a SCAD, approached me and mentioned that there was a group of seventy women on the WomenHeart patient online community, and asked me if anyone at Mayo Clinic was researching SCAD. I told her that while I had seen several SCAD patients, and would probably be the best person to see about SCAD, Mayo Clinic did not have a SCAD research program. She mentioned that the patients had put together some research questions, and followed up with “Could our researcher be you?” I was both taken aback and intrigued that the patients had already formed a group and developed research questions, especially since I had been taught that this was a very rare condition. I went back to my office and pulled up a literature search on SCAD. I discovered that the largest series of patients reported in the world’s literature at that time was only forty-two. I thought, “wow, that’s interesting”. I remember sitting in my office and thinking “I could say ‘wow, that’s interesting’ and leave it there, or I can do something about it and truly make a difference.” I distinctly remember thinking “If you don’t do it, no one will.” I called Dr Marysia Tweet, a highly capable internal medicine resident with a background in math and engineering. I asked her to join me as I begin figuring out how to effectively research SCAD in a group of individuals from all over the world, for whom we had only screen names: no real names, no email addresses.
Marysia’s ingenuity and persistence have been inspiring, and her background in statistics has been invaluable (since I have none!). After completing her residency and cardiology fellowship, while not only researching SCAD but raising four children, Dr Tweet joined the Mayo Clinic faculty in July 2016. She has truly been my “partner in crime” and the heart and soul and of the SCAD research team. Since expertise in interpreting SCAD angiograms was critical, we teamed up with interventional cardiologist Dr Rajiv Gulati, who unbeknownst to us, was already exploring SCAD in patients who had previously been to Mayo for care.
As our knowledge base, research participants, and SCAD Clinic practice grew, so did our Mayo Clinic SCAD team. Our team currently includes a multidisciplinary group of interventional and non-invasive cardiologists, radiologists, geneticists, psychologists, obstetricians/gynecologists, graduate students and trainees, all focused on some aspect of SCAD. Since our beginnings in 2010 we now have the largest registry of SCAD patients in the world. Our team at Mayo Clinic is taking a broad look at SCAD, its causes, associated conditions and trying to find the best treatments. We also are working with others to develop a framework of collaboration with SCAD researchers at other institutions across the country and around the world. By leveraging the insights and strengths of researchers at other institutions to confirm or refine each other’s findings, develop new hypotheses and utilize resources unique to their particular research team, we all win, particularly the SCAD patients.
Patient-Driven Research: Collecting Pieces to the Puzzle
The Mayo Clinic team is using a novel approach to research, and I find that very exciting and highly aligned with my patient advocacy work. The research is patient driven and virtual, which means that the patients can refer themselves and do not have to depend on the diagnosis of a doctor who may not be familiar with the disease. It also means that travel to Mayo Clinic is not necessary to participate in the research. The downside to this type of research is that it depends on each patient to take ownership of the part that they will play. Getting patients’ medical records from other institutions is time-consuming and often difficult. We recently recognized that we are unable to use roughly one-third of the data from SCAD patients who have sent in their angiogram and been confirmed as SCAD simply because the research questionnaires we sent them have not been completed and returned or we’ve hit a dead end on getting medical records.
What our participants may not realize is that the questionnaires are just as important to the research as the angiograms and gene kits. The angiogram will tell us whether a SCAD has occurred, but does not give us information as to why it occurred. Our approach to SCAD research is to combine “deep phenotyping” with genotyping, which gives us a three-dimensional view of the patient. We want to know their health history before, during, and after the event, including which treatments they received; important lifestyle factors including stress, anxiety, migraines, and whether they have used fertility drugs, as well as genetic information from both the subject and their parents. We are unable to get a complete picture of the patient when a big piece of the puzzle is missing.
One issue we are looking to address in an innovative way is to reduce the time we spend compiling a complete research packet for each participant, since the time spent is literally, money. Our resources are not only finite, but we want to put those resources towards what is most likely to give us answers about SCAD. We want to use our resources to enroll new patients, genetic sequencing and data analysis. When our study coordinator spends most of her time sending reminders and calling hospitals for medical records instead of enrolling patients, we all lose. We are considering changing the way the data is collected by having patients fill out the questionnaires and collect their complete record before reading the angiograms for admission into the study or at a minimum require the patient to participate in obtaining their medical records.
In our current work, we are gaining insights into the underpinnings of SCAD through genetics and our DNA biobank led by Dr Timothy M. Olson. We are looking for gene mutations that are present in the SCAD patient and both their parents. Once we find a common mutation, we look at it to see if that gene is one that is present in cardiac or vascular tissue. Once we isolate these mutations or what we call “candidate genes”, we hope to get funding to progress to animal studies to see if the introduction of the mutation is associated with arterial dissections. The next question will be whether we can manipulate that gene or identify some other intervention to achieve the Holy Grail: preventing SCAD altogether.
I know that the answers are out there. We are just waiting for the conceptual paradigm shift to figure it out. Thirty years ago we didn’t know that there was a correlation between risk factors and heart disease. We thought that people’s arteries got harder as they aged and they died; we didn’t know that bacteria caused ulcers, or that viruses cause certain cancers. Once research got to the point where a cause was identified, cures and treatments were developed.
We won’t get there in the next five years, but we will get there. A cure is possible. It will take money; it will take time; it will take all of us. If we don’t do it, who will?
If you have had a SCAD and would like to participate, here are some ways to become involved in the research study and make sure that your record is complete:
· If you are already a Mayo Clinic SCAD Research participant, thank you! For literally “putting yourself out there” by being a part of the Mayo Clinic SCAD Registry. We at Mayo Clinic are committed to finding answers for you.
· If you still have your research packet in a pile at home, consider pulling it out and sending it to us.
· If you’ve misplaced your packet or not sure if you have sent everything in, feel free to contact us at MayoSCAD@Mayo.edu or 507–266–3180. Mayo Clinic rules limit us to trying to reach you three times to remind you of what might be missing from your research record, and if there is no response, we must stop. But you can contact us anytime!
To support SCAD research, please visit www.scadreasearch.org