One of Ian Cali’s earliest memories is being plunged into a bathtub full of ice by a team of doctors and nurses trying to reduce a fever whose cause they could not identify. The sensation of warmth and comfort leaving his body so quickly and brutally was something that Ian would never forget.
Eventually, Ian was medically diagnosed with Fibrodysplasia Ossificans Progressiva or FOP, a genetic condition in which bones grow in parts of the body outside of the normal skeletal system after inflammatory periods called “flare-ups.” I first met Ian as a first-year medical student learning about FOP in a genetics lecture, when he presented his condition and experience as a patient to our class.
In lecture, we learned that FOP is caused by a single-nucleotide mutation in the gene called ACVR1, a discovery made by researchers including Drs. Frederick S. Kaplan and Eileen M. Shore at the University of Pennsylvania. ACVR1 codes for a signaling protein involved in bone formation, and a single activating mutation in this gene ultimately leads to the hyperactive bone growth seen in FOP.
Meeting and talking to Ian, however, made me realize something that textbooks or lectures could not have taught—that I would never truly understand or even dare to believe that I completely understand another person’s life or experience. Each is too complex and precious.
Ian’s life and journey has been far more fulfilling than the ostensible boundaries drawn by FOP may suggest. He doesn’t remember FOP imprisoning him as a child; he roamed free in a sea of adventures, athletic endeavors, and encouragements. “All I cared about was rolling around on the ground, getting grass stains on my jeans, and playing outside with my brother” says Ian, now a thirty-year-old app developer.
Throughout his life, Ian understood there would be highs and lows involved with FOP, but the uncertainty of that trajectory proved daunting at times. “During my adolescent and teenage years, I was either acting like FOP didn’t exist, or hating it because it was taking something or someone away from me that I wanted and felt like I deserved,” Ian recalls. “While everybody else was trying to figure out who they wanted to be, I was scrambling to understand who FOP would ‘allow’ me to be, and if I could be happy with any of those versions of myself.”
After getting caught in the darkness of feeling unworthy of happiness many times, Ian has learned the secret to getting out is simpler than it seems: Stop acting like the passenger in your own life and start acting like the driver. “We can all do things to feel better,” Ian says, “we either make ourselves feel happy or we make ourselves miserable – the amount of effort is the same.”
Empowerment aside, Ian mentions that living with a diagnosis of any kind can play tricks on the mind, and after a while, darkness can be familiar and seductive. “Especially when we don’t see any avenues towards something different. But this is where things like patient-doctor relationship can have a huge impact.” Doctors can provide something immensely powerful and precious to a patient: hope.
However, patient-doctor relationships can be challenging to execute and maintain. Doctors are pushed to see many patients as quickly and efficiently as possible, while a single brief encounter with a doctor could be life-changing to a patient coming face to face with a diagnosis. Every word from a doctor has the potential to encourage or demoralize a patient.
So, which is harder, being a doctor or a patient? Ian would argue the answer is they are equally difficult in different ways. Doctors are drowning in information, while patients are overwhelmed by symptoms and circumstance. While this polarity between patient and medical world is unavoidable, perhaps the relationship could be harmonious and mutually beneficial. Ian suggests that doctors are under unfair pressure to know and solve everything on an impossible scale while patients are expected to casually accept things that human nature instinctively rejects.
“The most valuable thing a doctor can do for me is to think outside the box while they challenge their own knowledge in conjunction with the human experience I can portray to them,” Ian says. The relationship between doctors and patients could become gloriously symbiotic when the medical world realizes that from a patient perspective, doctors’ words have a much bigger impact on daily life than their research does, and patients realize their experience is a piece to a puzzle bigger than themselves. The more effectively patients can communicate about what they see, feel, and think, the more efficiently the medical world can treat them. Ian has made it clear that doctors can have an unparalleled impact on a patient’s life, for better or for worse. Amidst the pursuit of the iconic white coat, it can be easy to get caught up in the prestige of it all and perhaps forget the reason why we are in medicine in the first place: to make a difference. For patients and the medical world, we must never stop learning, growing, and challenging ourselves to listen as well as think for ourselves. The better we can allow the experiences from our patients’ and our own lives to fill in the contours drawn by our studies, the better we can care.
Peter Park is an MS1 at the Perelman School of Medicine.
Image by Andy Revell, a CDY5 at the Perelman School of Medicine.
