The Adair family (left to right): Tom, William, Amelia and Julia, in front of a painting by Julia's older sister showing the two of them as children. Jay Paul photo
William Adair was just an infant in 2002 when his parents began thwacking him regularly, every day for minutes without stopping.
Soon after Tom and Julia Adair brought their second child home from the hospital, Tom became squeamish about the "beatings."
"You cup your hand and hit pretty hard on the chest, both sides, his middle back and upper back. So, he's an infant and you're pounding on him for 25 minutes," Tom says, "which is quite a challenge to get through. And I remember calling the nurse one time. It was only the second or third time I did it, and it was so hard for me. I said, ‘He's just crying. Can I stop?' She said, ‘You've got to do it, and actually crying is helpful because it's giving those lungs exercise and getting fluid that's in his lungs to come out.' "
More than seven years later, the Adairs are at it still, giving William what's known as "percussion therapy" twice a day. To the outside observer, the rhythmic drumming on the little boy's midsection is disconcerting and loud.
But it's a rote fact of life for the Henrico County family, whose youngest member has cystic fibrosis.
The disease is hereditary and is marked by abnormally thick mucus that clogs the lungs, intestines and pancreas. As a result, people with cystic fibrosis can develop respiratory and digestive complications. There can be difficulty with breathing and fighting off infections. In the intestines, nutrients may not get absorbed into the body.
The Adairs are moving in many directions. Tom and Julia's 14-year-old daughter, Amelia, is coming of age with new school activities and social outings that keep the family busy. Julia, a bankruptcy attorney with the Boleman Law Group, keeps up a demanding work schedule that includes out-of-town travel. And Tom is completing his second year as a fourth-grade teacher at Twin Hickory Elementary School in Henrico — a career switch after years in the newspaper business.
William's disease, however, is the looming constant in the Adair household.
"The challenge for us is knowing this disease is not going to go away," Julia says.
It started the day after William was born at Henrico Doctor's Hospital when he failed to pass the meconium plug — a baby's first bowel movement — as expected. "And he wasn't eating properly," Julia adds.
This triggered a scan of the boy's intestines, she explains, and doctors "saw what they call a ‘micro-colon,' which meant that something had blocked along the way and the rest of his colon hadn't developed."
Doctors suspected one of two causes: a tear in the colon or cystic fibrosis. When they performed surgery on William and didn't find any breaks in his colon, it seemed clear it was cystic fibrosis.
Further tests confirmed it. Seven years later, Julia's words trail off to a shudder as she recalls being confronted with that news.
The Adairs immediately sought research on the disease, but soon enough, the couple learned about it on their feet.
Because many people with the disease can't process food normally, they must take pancreatic enzymes with their meals to help digestion. Well before the time most infants can eat solid food, Tom and Julia had to spoon-feed their infant son applesauce with the enzymes.
William's first month was spent in the neonatal-intensive-care unit, where his normal 9-pound birth weight made him look, by comparison, like the Shaquille O'Neal of the ward. "He was a giant," Julia says.
The Adairs laugh at the memory, and Tom points out their stock-in-trade coping mechanism. "We try to insert humor as much as we can into these things, so we joked about that."
Parents of newborns are universally stressed out and sleep-deprived, but Julia described their first months with William as being in "crisis mode."
After checking out of the hospital, the Adairs adjusted to the daily regimen that revolved around William's condition. Their son had a collection of medications to take: one inhalant to address his lung function; pancreatic enzymes to help him digest food; one for stomach issues; and multivitamins to supplement the boy's nutrition.
"We don't know how much pain he was going through because his colon had to form through passage of food," Julia says. "I cannot imagine how much that must have hurt. When we brought him home, he spit up a lot."
In addition to giving William percussion therapy to stimulate his lungs, Tom and Julia had to take him to weekly medical appointments at VCU Medical Center for the first year.
Tom recalls: "Some days, the waiting room would be full, so you‘ve got an infant there, and you know, it was some long visits for him. … He had a whole team of people that would see him. The doctors and nutritionists were a huge factor for William. We had to learn about the diet he was going to be on."
At home, the Adairs kept detailed logs of William's every bodily function, noting diaper changes, meals, medications and therapy sessions.
"You become very clinical because you're writing down and keeping track of everything," Julia says. "We don't do that so much anymore, but when you're in the mode, you just do what has to be done."
‘The Sky's the Limit'
Relatively little was known about cystic fibrosis in the 1950s, and back then, a child born with the disease was likely to die before grade school.
The quality of care for CF patients has improved dramatically since then, but the disease is no less threatening if left unchecked.
A grim reminder close to home is the fact that at least 11 people in Central Virginia have died from cystic fibrosis since 2005, says Linda Vines, executive director of the Cystic Fibrosis Foundation's Virginia chapter. The majority of those patients were between ages 16 and 22.
In recent decades, the foundation has aggressively raised money and funded research, since privately funded research has been limited.
Compared with other diseases that draw a lot of attention and research dollars — cancer and diabetes, for instance — cystic fibrosis affects a relatively small population. An estimated 30,000 nationally and 70,000 worldwide have cystic fibrosis.
"Pharmaceutical companies aren't going to spend a lot of money to develop a medicine that is only sold to a limited audience," Vines notes.
Thanks to its research support, the foundation now touts that median life expectancy for someone with the disease is about 38.
"Now, more than half of the patients with cystic fibrosis are adults, and that was unheard of 50 years ago," says Dr. Joel Schmidt, interim chair of pediatric pulmonology at VCU's Pediatric Pulmonary Center.
Schmidt, who is William Adair's doctor, says the broad effort to tackle cystic fibrosis is fraught with some tough ethical questions. The disease, he explains, is genetic. Defective DNA short-circuits the way a body's cells regulate chloride, a key element in secretions such as sweat and mucus.
Because the disease is genetic, it can present a large number of mutations, meaning there is not a one-size-fits-all treatment for CF patients, with some going undetected for years because they have the mildest of symptoms.
In recent decades, Schmidt points out, efforts such as newborn screenings and quality-improvement campaigns at cystic-fibrosis centers have driven increases in positive outcomes. But because each state sets its own standard as to how sensitively babies are screened, ethical quandaries can arise. Costly tests do a better job at catching even mild cases, while less expensive screenings may identify only the most critical occurrences of the disease. "It's the social part of medicine," Schmidt says. "What is the bang for the buck?"
As a physician, Schmidt has been closely focused on cystic fibrosis for more than 20 years, and he notes that VCU has a strong foothold in research related to the disease.
Last year, the university hired Dr. Bruce Rubin as chair of the department of the pediatrics. Like Schmidt, Rubin is a pediatric pulmonologist. He came from Wake Forest University in July 2009 and is so committed to his research that "his license plate at Wake Forest was ‘MUCUS,' " Schmidt notes with a smile.
Rubin's research helped identify how a certain antibiotic was better equipped to combat a particular bacteria that threatens cystic-fibrosis patients. The patients have benefited as a result, Schmidt says. "They're taller because of it and their weight is better because of it and their lung function is better because of it."
Henrico residents Diane and Stuart P. Myers have some proof of this. The couple's three children all were diagnosed with cystic fibrosis in 1993. The oldest child was 12 at the time and the youngest was 5.
When each parent has the gene for cystic fibrosis, there is a 1-in-4 chance that they will bear a child with the disease. With all three children inheriting both genes for CF, the Myers family represents a statistical rarity.
Stuart Myers says his children demonstrate the variety of mutations possible with the disease. "Their symptoms have been different, and the severity of the symptoms have been different," he says.
Today, his oldest son is almost 30, and his youngest, a daughter, is 22. Myers says they're all active in sports and one is a firefighter. He and his wife have nudged their children to maintain their health regimens and to secure health insurance no matter what.
While a higher quality of life — and longer lives — are possible for cystic fibrosis patients, the statistical specter remains.
"The oldest [patient] we have here at the clinic is 52 years old," Schmidt says. "Usually in their 20s or 30s, you begin to think about [a] lung transplant as a way to keep them around longer."
But the future continues to look brighter, Schmidt notes.
"With the drug-development pipeline and with what we know now, we're telling parents, ‘Your kid's going to college, so plan for that. Your kid's going to need a career, plan for that. Your kid's going to need health insurance, plan accordingly. And that, you know, the career had better not be working for himself as an artist. It better be in a large corporation that can afford one person with a tremendous burden on the insurance plan. And we're saying the sky's the limit … we're saying 50, 60 without being a pulmonary cripple, without having to walk around with an oxygen tank."
Schmidt even expects to see CF patients living into their 70s as new therapies come to fruition.
Hard Questions
William Adair's cystic fibrosis permeates his family's life.
Before his birth, the family's plan was for Tom to quit working and become a full-time, stay-at-home dad while Julia, fresh out of law school, embarked on her second career as an attorney.
William's diagnosis redirected that plan.
"When I was at my former firm," Julia recalls, "the notion was that Tom would quit working altogether and that my firm would cover the whole family on its health-care policy." But the Adairs soon realized that the care William required would be costly for a small employer like Julia's. "We didn't want to put that burden on them," Tom says.
So the family switched gears.
Tom, then a seven-year employee of the Richmond Times-Dispatch, was able to retain full health benefits even on a part-time schedule. He kept a job at the newspaper and switched from his full-time job designing the local-news section to working part-time as a page designer and copy editor in the sports department.
During the day, Tom cared for William while Julia worked. The couple saw each other between jobs — they ate dinner with Amelia and William before trading shifts.
As both parents have since switched jobs, the continuity of their family's health benefits has remained sacrosanct.
Today, William takes five medicines. In addition to his Albuterol, Zantac, multivitamins and enzymes for his meals, he also takes Pulmozyme — one of two drugs that he inhales through a nebulizer before and after his percussion therapy.
Especially for a 7-year-old, the routine can feel like drudgery. "I don't like it because it takes so much of my time," William says. But one mention of his doctor visits elicits the opposite reaction. "They put in a Wii!" he blurts out, his voice rising. The Nintendo video-game system rates as the boy's all-time favorite pastime.
The family shells out about $2,000 each year in co-pay fees for William's medication, Tom says. Without insurance, the medicines would be hard to afford — one costs $1,000 for a 30-day supply. Tom estimates that the family's yearly expenses for William's clinic visits and medicines would add up to $22,500 at a minimum if he were not insured. According to the national Cystic Fibrosis Foundation, the average cystic-fibrosis patient amasses $63,800 worth of medical care annually.
In the battle of economics vs. health, the Adairs have become adept at cutting through red tape with patience and perseverance. This can mean haggling with insurers over medication expenses.
"There aren't any generics available," Julia says. "We've had to fight because this is a life-and-death issue."
Once, a change in a prescription — to allow more enzymes so William could eat an extra snack here and there — ended up pitting Tom against the insurer and risked delaying a three-month supply of his son's medications.
The Adairs represent what could be considered a best-case scenario under the circumstances. William has remained in good health thanks to his parents' vigilance, their ability to afford the health care he needs, and the dedication of people like Dr. Schmidt and his colleagues.
Amelia notes that her brother's battle with CF has drawn a number of allies to her family's aid. Those allies include other CF families, neighbors and church friends. "We realize we have so much support," she says.
On a rainy night in late February, William lies nonchalantly across his father's lap on a brown leather couch. Even as Tom delivers repeated thwacks to his son's midsection, the blond-haired boy smiles with a hint of shyness and even giggles while watching a favorite cartoon on Nickelodeon.
Yet, the future can be uncomfortable to think about. The lifespan most people take for granted, after all, is not a given in the world of cystic fibrosis.
William, whose mind grows more curious, has a knack for asking hard questions. Amelia recalls one night several years ago when her little brother grew frustrated with his medicine routine and asked, "Why do I have to take the medicine and not Amelia?"
It's one sign of the boy's awareness of his disease, highlighted by the fact that when William learned about a classmate who also has cystic fibrosis, he was excited to meet someone like him, someone who understands the challenges of CF.
CF patients can be infectious to one another, however, and William and his friend had to be placed in separate classes, Julia explains. For this reason, conferences related to the disease may not have many actual patients in attendance — a precaution.
Tom and Julia are thankful that they have not yet had to discuss the distant future with their son.
And their dedicated care and occasional battles with health insurers have an upside. They keep the family focused on the here and now.
"We try not to look 10 years down the road," Tom says.
Later, he adds, "We've had some tough conversations, and it will only get tougher."
GREAT STRIDES WALK FUNDS RESEARCH
Cystic fibrosis research — particularly drug development — is, economically speaking, financially risky for companies that make their money from pharmaceutical sales, medical devices and other patented health care treatments. That's because only about 70,000 people worldwide suffer from the disease.
Where companies may be lacking, the Cystic Fibrosis Foundation has stepped in as a leading sponsor of research on the disease and ways to combat it. On May 15, its annual fundraising push gets in gear with the Great Strides Walk in Innsbrook.
"Last year was one of our better years," says Linda Vines, executive director of the CFF's Virginia chapter. "We actually had about 500 people participate."
Local efforts netted about $265,000, she says.
Learn more about the event at cff.org/great_strides/ . —JC
