Rewinding Twenty Years: Nicanor's Story in Cerro de Pasco, Peru

December 10, 2019
Writing

The symptoms started slowly, Nicanor Caceres recalled.

Pounding headaches, an augmenting drumbeat, inched their way into the depths of his skull. ‘It was just the cold climate in Cerro de Pasco,’ he thought. Another unwelcome visitor encroached, announcing its arrival with an interminable buzz. It settled in between his ears, behind his eyes, making itself at home. ‘There’s a chill outside,’ he told himself.

Whether or not he was fully aware of his denial at the age of 40 is uncertain. But Nicanor has lived in Cerro de Pasco, Peru his entire life. And anyone who has spent even one year in the country’s highest city, located 4,380 meters above sea level, knows that there’s no such thing as a ‘cold season.’ Seasons, in general, don’t exist. The skies are overcast year-round, permitting only the rare ray of sunlight to illuminate the mining city below. And when charted month-by-month on a line graph, the average high and low temperatures only budge up or down by a few degrees.

The weather hadn’t changed. For better or worse, it wouldn’t change much, at all, over the next two decades. Nicanor’s health, on the other hand--and for the worse--wasn’t so reliable. Over the same amount of time, his condition deteriorated. As the headaches throbbed with a stronger fist and the hum of tinnitus crescendoed, chronic insomnia overtook him as well. And eventually, the quality of his life mirrored that of his sleep.

Dr. Francisco Villafuerte inspects Nicanor’s hands. One of the signs of CMS is a blue tinge on fingers and toes—a sign of oxygen deprivation from CMS.

By the time Nicanor discovered that Chronic Mountain Sickness (CMS) was the cause of his living nightmare, the years of incremental distress had taken their toll. “I’ve had to take aspirin for the pain, all the time,” Nicanor shared. Even still, the effects of his inadequate sleep patterns offset the impact of the pills.

His symptoms paint a sallow portrait of CMS, which develops from exposure to hypoxia over one’s life. From the hypoxia, a person’s proportion of blood volume that is saturated with red blood cells (RBC) increases to dangerous levels; as a result, there is a deficient level of oxygen available in the blood to support the heightened number of RBC.

Those who live at a high altitude are notably at risk of CMS, but current research suggests that there is a genetic predisposition to the disease as well. For Nicanor and similarly affected individuals, symptoms of CMS can vary in duration and intensity. But in advanced instances, patients can succumb from cor pulmonale and congestive heart failure.

While the latter ailments aren’t on Nicanor’s list of current concerns, they’re undeniable threats nonetheless. Now 62, he lives with his 33-year-old daughter, Silvia, and his seven-year-old daughter, Anjeli, so that Silvia can care for him. He’s no longer employed at the maintenance job he held before, back when his symptoms started. And his son lives an eight-hour drive away in Lima, where he found work.

One might think that the health benefits of living at Lima’s lower altitude, coupled with its urban job prospects and proximity to family, would incentivize Nicanor to uproot and move away from Cerro de Pasco. But for reasons he did not share, the idea of leaving his hometown is not a topic of discussion. “I don’t have plans to visit Lima; my son comes up here,” he said. “I’m going to stay in Cerro de Pasco.” Silvia echoed his sentiments.

To both of their knowledge, nobody else in their family has CMS--at least, not yet. Research indicates that the onset of CMS typically occurs around age 40 and is most common in men; however, women are not immune to its effects. Nicanor doesn’t recall if either of his parents, both of whom have passed, had CMS. And while there’s a chance that his brother could exhibit signs of CMS, he lives at a lower altitude, removing the immediate risk of the disease.

As for Silvia and Anjeli, only time will tell if the mountains tighten or loosen their grip on the younger generations. Silvia asserted that she and Anjeli “are both healthy,” and she carried her daughter to term without leaving Cerro de Pasco. However, studies have yet to determine if altitude-induced oxygen deprivation during one’s pregnancy holds long-term repercussions, on both mother and child.

"I've had to take aspirin for the pain, all the time."

The absence of a cure for CMS--and its hereditary potential--present a dismal outlook for the future. Despite these implications, Nicanor is sanguine. After hearing about the opportunity to participate in Dr. Francisco Villafuerte’s eight-week clinical trial focused on CMS patients, he didn’t hesitate to sign up. Since January 2019, he’s attended every appointment and acquiesced to requests for blood draws, exercise tests, and other study components.

Where others would recoil, Nicanor remains taciturn as he goes through the motions that have become routine. Upon his early arrival on a Friday morning, he turned his palms towards the leaden sky, allowing for multiple finger pricks. Due to the viscosity of his blood--the result of low oxygenation caused by CMS--ruby pearls only surfaced with overcompensatory effort, pinching his skin.

A blood draw from both arms, still healing in dotted shades of purple and blue from prior visits, reiterated the same issue. A normal-sized needle was inadequate; the blood, closer to the consistency of syrup, necessitated one that could accommodate the thick biosample. He winced from the pain as one, two, three vials slowly filled to their capacity, but remained silent.

Another night, no earlier than 11 p.m., he silently pedaled on a stationary bike. Per Villafuerte’s training plan, participants bike in one-hour increments, four times a week. At an hour where others rest their heads, Nicanor pedals his feet. Rooted to the floor in front of a dusty TV, underneath a sole fluorescent fixture, he doesn’t move forward. But with each revolution, he’s helping to propel research towards a cure for CMS. And if the study’s initial findings are any indication, a solution may be around the corner.

Nicanor sits with his granddaughter, Angeli, and daughter, Silvia.

After more than two decades of discomfort and pain, Nicanor’s already experienced a dramatic change in his health since starting the CMS treatment three months ago.

“The exercise has helped with my headaches,” he said, “And my hemoglobin level was 24 before. It’s lower now.” According to the Mayo Clinic, an ideal hemoglobin level for an adult male, in comparison, is between 13.5-17.5 grams per deciliter.

Nicanor completed the last day of his eight-week treatment during our visit to Cerro de Pasco. But the tangible effects of the therapy have motivated him to continue exercising on his own accord. “My quality of life has suffered [from CMS], but I am hopeful for the future,” Nicanor shared.

Prior to the study, most physicians advised CMS to avoid exercise, believing that the exertion would aggravate their existing conditions. But after twenty years, Nicanor is taking the short-term benefits and long-term potential of this contrary, pioneering research to heart.

Originally published at geneticjourney.net as part of my work with the Simonson Lab in March 2019.