"Researcher, Heal Thyself?"

“You see doctor, when I found out you had Marfan syndrome and I saw that you were pregnant, I felt so jealous I could not stand it. Then I realized, if you did it, maybe I could, too.”

     My mind raced with ways to respond. I did not answer as quickly as usual. She took my pause as an opportunity to continue…

     “You know, I love my foster babies. I feel so blessed. It’s just hard to wake up every morning and remember that they can be taken away. I have three now…they are siblings. Their mother is addicted to drugs. But I think she is pregnant again, so I might be able to have four children.”

     My patient looked into my eyes intently. I continued to listen.

     “You give me so much hope. I thought I would die if I tried to have a baby, so my husband got a vasectomy. But if it is possible for me to carry a baby, he will try to have it reversed. Please doctor, tell me the truth. Is it safe for me to have a baby?”

     I usually do not disclose my diagnosis to my patients. I have always felt that my role as a physician is to ease THEIR suffering, not mine. I learned very early in my training that patient visits should not be mutual therapy sessions. When I enter my patient’s room, I try to suspend all of my personal thoughts, fears, and concerns. The encounter is about the patient, not about me.

     I do believe that my personal experiences living with Marfan syndrome (a connective tissue disorder that primarily affects the eyes and heart) enable me to be a more effective physician, both to patients with and without Marfan syndrome. It is true: I have been through open heart surgery; I have experienced the daily fatigue; I have received letter after letter informing me that my application for disability insurance has been denied. I also remember the burning desire to give birth to a child and the fear that it would never be possible…

     When I was five years old, my parents took me to a pediatric surgeon to be evaluated for repair of my pectus excavatum. A tall, bald man with a wide grin walked into the examination room. He spoke with my parents for a while, then he sat down on a stool and looked me in the eyes. The surgeon then asked “Mary, do you have any questions about the surgery?”

     “Yes,” I replied. “If I have this surgery, will it be easier for me to have children when I am older?” Shocked, the surgeon looked incredulously at my parents and then stared back at me.

     “I have never heard that question from a five year old before. But, yes. I think that it might.”

     Elated, I had heard all I needed to know. “Ok,” I declared. “I’ll have the surgery.”

     During college, my most trusted mentor told me that she did not think I should go through childbirth. I became withdrawn. I stopped going to parties. I did not want to date anymore. I thought that no one would ever want to marry me.

     Many years later, I learned that I had been wrong. I realized that I could be happy even if I did not have children. Then, I found that at least one person was willing to marry me, even if we did not have biologic children.

     A year after marriage, I ecstatically learned that I was pregnant. My husband and I had discussed the risks and benefits of this choice extensively. We knew this was a high-risk pregnancy. I was monitored very closely by my medical team. Fortunately, my child and I made it through delivery safely.

     All these thoughts ran through my mind in the seconds that I debated how to respond to my patient’s question. She knew I had Marfan syndrome because the second my 6'2" frame entered her exam room, she had asked me if I had Marfan syndrome.

     Unlike other medical conditions, Marfan syndrome has a distinctive phenotype. A physician with diabetes may not have any overt signs that suggest their diagnosis to a patient. However, I cannot easily “hide” my diagnosis. Although I do not usually disclose that I have Marfan syndrome to my patients, my patients often ask me directly. I have never had a good poker face.

     My patient hoped that since we both have Marfan syndrome, she could apply my medical decisions to her life. This is one danger of self-disclosure. In one regard, my patient and I are similar. However, in many regards, we are very different. For example, she is about ten years older than me. Furthermore, she has been through three aortic aneurysm repairs and still has an aneurysmal region of her aorta that is being monitored.

     Another danger of self-disclosure is that I am tempted to assume that since we both have Marfan syndrome, I know exactly how my patient feels. However, this is not true either. Her reasons for wanting to have a child may be very different from mine. Her assessment of the same risks and benefits may lead her to a completely opposite conclusion. Simply having Marfan syndrome does not make me a medical expert on the management of patients with Marfan syndrome.

     Similar risks exist when I do research. My personal experiences with Marfan syndrome often help me formulate pertinent research questions. However, simply having Marfan syndrome does not make me an expert in the field of Marfan syndrome research. I still have to be a competent scientist. I still have to be objective. I still have to keep my emotions in check when I realize that certain research outcomes may affect my life significantly.

     Therefore, my response to my patient was to share with her the data I knew. I also explained that the data on pregnancy outcomes in women with Marfan syndrome is scarce. In these situations, I help patients explore their ambivalence and then respect their autonomy to make the decision that is best for them and their family. Thankfully, I was then able to share with her one thing about myself that really did give her hope: in addition to being a physician, I am also a scientist. When data are lacking, I can develop an experiment to help find an answer. I can take my knowledge of her hardships and turn it into opportunities to help her and others with Marfan syndrome. My patient then started crying. She hugged me and said thank you.