A decade ago this past June, my sister died at the National Institutes of Health. I still have faith in them, and I hope that the country does, too.
When she was 10 years old, floaters appeared in Shelby's vision. Doctors soon discovered a hemorrhaging retinal tumor. Shelby and my mother were soon both diagnosed with von Hippel-Lindau disease (VHL), a rare genetic disorder caused by a mutation in the VHL gene, leading to tumors in the brain, eyes, spine, pancreas, kidneys, and adrenal glands.
While investigating the genetic basis of kidney cancer, NIH researchers at the National Cancer Institute (NCI), one of its many institutes, started a program looking at patients with inherited cancer syndromes, like VHL. Their work led to the identification of the VHL gene, which spearheaded continued VHL research, with the hopes of finding a cure for kidney cancer.
VHL is one of those diseases that you learn about in medical school but rarely see in practice, if ever. The NIH specializes in these "zebras." NIH patients benefit from clinical expertise on rare diseases, which can be difficult to find elsewhere, while simultaneously contributing to disease research. Early in their VHL journeys, Shelby and my mother were accepted as NIH patients to help guide their care. Their journeys inspired me to become a physician.
I frequently accompanied Shelby and my mother to their dayslong NIH visits, tacked on to the end of winter breaks and summer vacations. Our family would venture through the TSA-level security to the giant labyrinth of the Clinical Center at Building 10. The waiting rooms always had an unexpected sense of home. We made friends from all over the country and the world, who shared an understanding of what living with a rare disease meant. We entertained one another during these visits the best we could: making silly faces in the waiting rooms, wondering if the construction throughout the building would ever end (it never would) and whether we remembered how to get to the MRI area, laughing about the latest colored bandaging tape from Phlebotomy, traipsing around the Bethesda Barnes & Noble (which is now an Anthropologie), trying the new restaurants that kept popping up as Bethesda grew fancier each year.
These diversions offered an escape from the uncomfortable reality Shelby and my mother were living. Until recently, the only available VHL treatment was watchful waiting with surgical intervention when tumors got too large or caused problems. While Shelby's retinal tumors certainly caused problems, including blindness in her left eye, they were not as immediately life-threatening as her brain tumors. In Shelby's case, her brain tumors favored her brainstem, the control center of not just the brain but the entire human body.
Shelby's first brain surgery happened after her freshman year of college, the summer before I started medical school. When she awoke from surgery, she seemed like she had a stroke, and she struggled to move her right side. She was hospitalized at Building 10 for almost two weeks. Through lots of rest and physical therapy, she recovered, came to my white coat ceremony, and started sophomore year on time.
Shelby's second brain surgery happened after her college graduation. She awoke from anesthesia smiling, with full sensation and movement. Her condition turned over a fitful night, and she passed away a few days later in Building 10's intensive care unit, after suffering an actual stroke to half her brainstem. She was supposed to start graduate school that fall to become a school psychologist, her dream job.
Ten years on, I am still grieving the loss of my best friend, with her glitter Converses and bright smile. In that time, I graduated medical school, became a pediatrician, and immersed myself in the pedagogy of educating clinicians. I got married and experienced a miscarriage. I lived and worked through a pandemic, during which I also became a mother to two exhausting but wonderful little boys. My patients -- including those who experienced the unintended mental health and social consequences of Covid-era mandates and those with cancer who stopped responding to chemotherapy -- have taught me that complications and uncertainty are part of medicine. They are part of life. I know this fact, deeply and intimately, yet I will always grapple with what happened to Shelby. I know that she had an incredibly delicate surgery, a feat of modern medicine, and that her surgical consent included stroke as a possible outcome, but I struggle to understand why this complication happened to her, at our nation's premier medical institution.
My grief stays with me and grows with me, but amid my pain, I still have hope. Since being diagnosed with VHL, my mother has undergone three major kidney surgeries to remove cancerous tumors that were threatening to metastasize. She has multiple brain and spine tumors being watchfully monitored.
But along the way, something miraculous happened. About three years ago, the Food and Drug Administration approved belzutifan for the treatment of VHL tumors. While many researchers contributed to belzutifan's development, the NIH played a crucial role, starting with the discovery of the VHL gene. NCI-supported research helped to demonstrate the role of HIF in kidney cancer, and subsequent clinical trials, both at the NCI and beyond, demonstrated the effectiveness of targeting HIF-2a in VHL-related tumors. I was lucky enough to work with some of these NCI researchers during college, when I was still finding my way to medical school, and see their work firsthand. Since my mother started belzutifan, her tumors have either shrunk or decreased in growth, and she has not needed another surgery. Shelby died before belzutifan was ever an option for her.
Seeing the NIH reduced to headlines about budget cuts and allegations of Covid mismanagement is deeply unsettling. The current political discourse fails to capture my lived experience: holding Shelby's hand and singing her our favorite Broadway songs while she died, greeting the crew of nurses and physicians who became something like family, attending scientific conferences that meant everything to a fledgling trainee figuring out her path and place in the world of medicine, wondering what Shelby would be doing now, crying with joy over my mother's latest good report.
The worst thing in my life happened at the NIH. Despite that, the NIH gave my family hope and continues to do so. Human suffering happens without a care for who we are, without regard for our beliefs or stance. Medical research, like that done at the NIH, offers a chance beyond partisan lines to help alleviate some of that suffering and deliver hope, to learn from complications and be better clinicians. Despite my pain, I have faith in that mission.
Shelby's first brain surgery coincided with Independence Day. She was nauseous and tired but wanted to see the fireworks. My father and I pushed her in her wheelchair, through a maze of doors and laboratory equipment, so we could reach the highest vantage point in Building 10 to view downtown D.C. We watched in awe as the fireworks exploded in the sky, rising above our nation's capital, with pain and hope coexisting.