Ask me to describe myself; my first answers are very typical: I am a physician. I am a wife. I am also a patient and a mother of children with a rare congenital syndrome. As a result of the last two, I have become an emergency medicine physician carving a niche interest in hopes of making a global impact.
Three years ago, with no prodrome or warning, I fainted at the end of a work out. I was the healthiest person I knew: an avid runner and boot camp participant who thoroughly enjoyed the feeling of working out. Following a stress test and 12 lead ECG my cardiologist realized I had syncopized from congenital long QT syndrome. I was immediately started on a beta blocker. Unfortunately, as an athlete with a low resting heart rate, I didn’t tolerate the beta blocker very well and wound up needing a pacemaker.
The morning of my pacemaker surgery, just prior to the start of the procedure, I had my first-ever documented episode of torsades. Perhaps, had I been at home in my bed, I may not have woken up. The procedure was aborted and I was upgraded to a dual chamber ICD. Once my procedure was completed, we began the work up on my children. Two of my four children were also found to have long QT syndrome and began beta blocker therapy. Sudden cardiac death for our family was luckily averted. When I think back to all the volleyball games I lived through, the summer camps I came home from and the mornings my kids woke up I get a bit overwhelmed. We got really lucky. This perspective, and the need to pay back my education and fortune, has drive me to a passion for educating other emergency physicians on inherited malignant arrhythmia syndromes.
As ED docs, we see patients with spells, syncope and seizures all the time. How often are they actually first manifestations of malignant arrhythmia syndromes? How often are they missed? If we miss a syndrome that is autosomal dominant, we miss the chance to diagnose and save half a family! The stakes are higher than we often think.
Emergency physicians should be suspicious of the faint that occurs during a startling noise, one that happens upon awakening, exertion, cool down or during sleep. We should ask about sudden death, near drowning, SIDS and single vehicle car accidents. Remember we get one chance to get this story sorted out in the index case. The initial ECG may be normal in both long QT syndrome and Brugada syndrome. Fever, medications, dehydration and electrolyte abnormalities frequently induce the arrhythmia. Often the syncopal spell mimics a seizure so be extra vigilant with the odd first episode seizure story! Listen carefully, get a good family history, and order more than one ECG. If something doesn’t seem quite right even with a pristine 12 lead in the ED refer the patient to an electrophysiologist. That referral, and subsequent diagnosis, may have just saved the patient AND their brother, sister or father down the line.
My niche evolved from blending a unique area of interest with an unmet area of need. Why is this important? I think we all want to contribute to our field in a meaningful way. After residency, my goal was simple. Practice excellent clinical medicine; which really meant see a lot of a patients and try not to miss anything. Fellowships can help define an area of interest early on, however, many women (like me) put career development on hold to start their family.
I took a decade post residency to have 4 children in quick succession while working in a community ED. For ten years I saw patients primarily and grew up as a doctor. It was only after my diagnosis that I decided to go BACK into academics. This was not easy 10 years out without fellowship training.
My transition from community medicine to academics has been purposeful and incredibly fulfilling. Developing a specific area of interest helps you stay focused in your research, your speaking engagements, and your time management. I just returned from Barcelona to speak with the Brugada family in Spanish on how to live well with long QT syndrome! Once you develop this area of interest and gain credibility the opportunities to make an impact will snowball and your career will become full of rich adventures. The single best piece of advice I got when arriving at Mayo over a year ago was to find an area of interest and stay focused!
While it takes time to develop a true niche my advice is simple – find something that is personal or that you absolutely love. Think about the impact you want to make not about how important it will make you. Ultimately, this isn’t about you, it’s about making a difference. Let’s face it – ask your mom, we were all the 5 years olds that dreamt about changing the world someday, right? Now is our chance to do it.
Reference and Review: Here are some FOAM resources on Long QT Syndrome