Living with Unpredictable Pain: A Sickle Cell Disease Story
An estimated 100,000 Americans have sickle cell disease, an inhertied condition that shortens the life cycle—and deforms the shape—of normal red blood cells. Severe pain results as the body struggles to replace them.
Growing up, Vismel Marquez wanted to join the police department and eventually work his way up to detective. Now almost 22, Vismel, says he knew that his dream job wasn’t to be. It wasn’t that he lacked the drive, courage or smarts. The fault is in his genes.
Vismel was born with sickle cell anemia. This inherited disease causes a mutation in hemoglobin, the oxygen-carrying protein in red blood cells.The defective hemoglobin causes some red blood cells to shape-shift, transforming from healthy donut-shaped cells that move easily through the bloodstream into scrawny, sickle-shaped versions. And because these misshapen red blood cells are rigid and sticky, they can’t move through the small blood vessels (microvasculature).
Instead they clump together creating micro-clots that block or restrict blood and oxygen flow. These blockages can occur just about anywhere in the body from the limbs to the lungs, the back to the brain and trigger a sickle cell crisis, an episode of severe pain that lasts for hours, days or a week and often means a trip to the emergency room or a hospital stay.
The likelihood of a sickle cell crisis increases with any activity that raises the body's oxygen requirements. That includes physical or psychological stress, rapid or extreme changes in temperature, overheating or being too cold, dehydration or high altitude. For some people, wind and rain can trigger a crisis. Given the variety of triggers and the challenges of the disease, “I knew my disease would be a disadvantage at the police academy,” quips Vismel.
He shares the anecdote cheerfully. There’s no trace of self-pity, no hint of a complaint. Even as a kid, he didn’t let his disease dampen his positive life view. “I’ve always been an optimist,” he says. “And besides negativity isn’t good for my health.”
Since shelving his detective career, he’s found a new passion. He’s now studying Graphic Design and Animation at Naugatuck Valley Community College in Waterbury, Connecticut, the town where he lives with his parents, the two people he credits with helping him maintain his determination and hopeful outlook. His father, Fredys, 53, is heavy machinery operator. His mother, Vivian, 48, is a nurse in the Cardiac Care Unit at Mount Sinai Hospital in New York City, the same hospital where Vismel has been treated for sickle cell disease ever since the family emigrated from the Dominican Republic to the United States in 2003.
The Science of Sickle Cell
An estimated 100,000 Americans have sickle cell disease (SCD). Worldwide the number is in the millions. According to the Centers for Disease Control (CDC) and the National Heart, Lung and Blood Disease Institute (NHLBI), the disease occurs more often in people of African, African-Caribbean, Asian, and Mediterranean, Middle Eastern and Indian descent who come from parts of the world where malaria is or was common. The theory being that people who carry the sickle cell trait—but don’t have the disease—and are less likely to have severe forms of malaria, a survival advantage.
SCD occurs in about 1 out of every 365 Black or African-American births and roughly 1 out of every 16,300 Hispanic-American births. People with the disease inherit a defective gene from both parents. About 1 in 13 African-American babies is born with sickle cell trait (SCT) which means that they have inherited only one defective gene. People with SCT are carriers but generally healthy and don’t show any signs or symptoms of sickle cell disease.
Vismel’s first pain crisis happened in the summer of 1995 when he was just 7 months old. The normally tranquil, unfussy baby became increasingly irritable. His parents tried every trick in their parental arsenal to comfort him. But each attempt to soothe their baby only seemed to heighten his distress. “He just kept crying and crying,” Vivian remembers. “It seemed as if he had pain everywhere.”
Early the next morning, his frantic parents rushed their now feverish baby to the hospital. Blood tests revealed that Vismel had sickle cell anemia and was in the midst of a crisis. (Today SCD can be diagnosed before birth; in the U.S. the simple blood test is part of routine newborn screening.) As it turned out, Vivian was right—the infant’s small body was entirely filled with pain.
In the hospital, Vismel received IV fluids to rehydrate his cells, opioid medication for the pain and a blood transfusion meant to increase the volume of healthy red blood cells circulating in his blood. And because children with SCD are more susceptible to infection, the hematologist put him on a long-term daily dose of penicillin along with folic acid to help his body churn out new red blood cells. (Sickle cells don’t live very long, lasting an average of 10 to 20 days; normal red blood cells live between 90 and 120 days.) He also had all recommended vaccinations for pneumococcal pneumonia and annual flu shots.
It was the first of many crises. “When he was little, it seemed as if we were at the hospital every two weeks,” says Vivian. “And when we weren’t at the hospital, I was calling the doctor constantly.” As a nurse, she knew something about the disease. As a mother, she was constantly on guard.
She was also determined to help her son learn how to deal with the disease. As soon as he was old enough to begin to understand, Vivian talked to Vismel about his disease. “I spoke to him in an age appropriate way,” she says. “I didn’t hide anything from him. I explained that he had sickle cell disease and involved him in the treatment as much as possible to give him a sense of control and power,” she adds. And if he was having a difficult time, Vivian was there to cheer him up and on. “I always kept a positive attitude around him.”
In October of 2003, the family relocated to the United States. Two months later, Vismel, then 9, had another crisis. His parents took him to Mount Sinai Hospital in New York City. “It was my first pain crisis in the U.S. and the first time I was treated at Mount Sinai,” he says. “It was also the first time I really understood the concept of having sickle cell.”
When the crisis passed, his parents explained that he needed to take better care of himself “so that I didn’t end in the hospital so often,” says Vismel. “They never told me I was different from everyone else,” he stresses. “They just told me that because of the sickle cell, I had to take more precautions when doing the same things everyone else was doing.” That meant making sure he stayed well-hydrated (drinking eight, 12-ounce glasses of water every day), dressed warmly in cold weather and took his medication daily and on time. He also needed to pay attention to his body and activity level, to remember to sit down or take a break if he felt out of breath or fatigued. “Overall, I needed to be more aware,” he says.
Day by Day
Sickle cell is an unpredictable disease and its course and severity differs from patient to patient. Vismel might be fine one day, or have a minor attack of pain that he could manage at home with rest, sleep and pain medication if needed. Sometimes a year or two would pass without a crisis. He’d be living his life, feeling good and then, suddenly, often for no discernable reason, his body would go into crisis mode. “It might start with a headache or a neck ache and then move into my joints and eventually cause excruciating pain in my lower back that makes walking or standing unbearable,” he says.
Between 2004 and 2016, he was hospitalized about ten times. Sometimes he’d spend three or four days in the hospital, be released, make it home only to have another crisis a few days later. That’s exactly what happened in February (2016). Hospitalized from the 1st to the 5th, he was discharged and readmitted again from February 9-12th.
“This follows the natural pattern of a pain crisis,” explains Jena Simon, Nurse Practitioner in the Comprehensive Program for Sickle Cell Disease at Mount Sinai Hospital. “It’s a well-documented phenomenon. [During a sickle cell crisis], there’s a lot of inflammation.The blood cells break down and the bone marrow becomes very active trying to make new healthy blood cells to replace the sickled cells.The body is in high gear and primed for another crisis,” she says. “This pattern can be very challenging and disheartening,” notes Ms. Simon. “The patient will be sick, then discharged, and then another crisis happens. It can be very difficult for patients to have a firm footing because they don’t know what’s going to happen next,” she adds.
What’s happening next for Vismel is his transition from pediatric to adult care—a notoriously difficult time. On September 1 (2016), he had his first appointment with Ms. Simon. Despite a bout of pulmonary hypertension in 2010 and his hospitalization in February (2016), Ms. Simon says he’s doing well. He’s on a medication regimen that includes Hydrea (hydroxyurea), a drug used to treat certain types of cancer that has been found to reduce the frequency of sickle cell crises. He also takes folic acid. His pain seems to be well-managed, mostly with ibuprofen. Ms. Simon says he didn’t need a refill for Percocet. “He takes it infrequently,” she says.
“He’s very fortunate,” says Ms. Simon, “His health has been very stable allowing him to accomplish everything he set out to do at this point,” she notes. “I’m sure his adherence to his medications is a major contributing factor to his overall good health.”
Vismel retains his no-complaints outlook. “My sickle cell doesn't affect me on a daily basis,” he says. “I have it pretty much controlled.” Still he admits that on occasion, the disease is restrictive. “In the summer, I avoid lakes, rivers, pools and all other bodies of water,” he says. Sickle cell limits his career choices, too, he admits, “but I’m happy with the path I’ve chosen,” he says. He’s not sure about one side-effect of hydroxyurea though. “It turned my nails purple,” he says.
Asked how the disease has changed him, Vismel says, “Having sickle cell motivates me to do my best. I’m not a person who asks, ‘Why me?’ I don’t use my disease as a crutch. I just try to appreciate everything that I have,” he says.