You tried to log your full eight hours of sleep last night, but you wake up in the morning as groggy and bleary as if you’d indulged in nothing more than a half-hour nap. You drag lethargy with you through the day like a chain around your ankle. Your head is a two-ton weight, your eyelids droop against their will. You consider using an intravenous system to pump caffeine through your veins. It’s even an effort to stay alert during rush-hour traffic. At night your head hits the pillow in anticipation of alleviating the day’s fatigue — and in the morning, the routine begins again. As it turns out, you are part of an exhausted society. According to the National Sleep Foundation, at least 40 million Americans suffer from a sleep disorder. The Foundation’s surveys reveal that 60 percent of adults report problems sleeping a few nights a week, and more than 40 percent experience daytime drowsiness that interferes with their everyday activities, such as work and — more dangerously — driving. But there are concrete reasons why sleep is elusive for so many of us, and treatments to bring us back to full consciousness. And doctors like Richard J. Schwab, M.D. — Associate Professor of Medicine at the University of Pennsylvania’s Division of Sleep Medicine and After completing medical school at Penn and serving his internship and residency at Thomas Jefferson University, Schwab returned to Penn for a fellowship in Pulmonary and Critical Care Medicine. He became involved with a research project that used cutting-edge magnetic resonance imaging (MRI) techniques to examine the upper airway in patients with sleep apnea. Derived from a Greek word meaning “without breath,” apnea is one of the more common sleep ailments — it affects more than 12 million Americans, according to the National Institutes of Health — and is caused by a narrowing of the airway. Individuals with sleep apnea may stop breathing hundreds of times throughout the night. Their brains briefly wake them, reminding them to breathe, but their sleep is ultimately irregular and poor.

“I originally became interested in the pathogenesis of sleep apnea,” says Schwab. “Why does the upper airway close when you go off to sleep? What is wrong with a patient’s upper airway anatomy that predisposes them to airway closure during sleep?” His involvement in the original research project led to his focus on sleep disorders of all natures, not just apnea but also narcolepsy and restless legs syndrome (the urge to move one’s legs repeatedly during sleep).

“Once I started studying sleep disorders, I found that it is a fascinating field,” says the former psychology major. “If you go to a party everybody wants to talk to you, because everybody either has a sleep disorder or knows someone with one.”
Schwab believes that we as a society are suffering from serious sleep deprivation. “Starbucks is probably the biggest pharmaceutical chain in the country, because everyone’s drinking coffee to stay awake,” he says. “The nice thing about being a doctor of sleep medicine is that I can actually do something for people. With most sleep disorders I can correct the problem, and people feel like they have had a brain transplant. All of a sudden they have energy and motivation again. They are no longer sleepy when they are driving. It is very rewarding to help them.”

Schwab’s key to treating sleep apnea in particular is to understand the mechanisms leading to the disorder. To do this, he uses technology such as MRI and works with Penn’s departments of radiology and biomechanical computer engineering to develop analysis software, based on computer graphics, that help create three-dimensional models of the relationships between patients’ upper airway and surrounding soft tissue structures. “We first used standard MRI to evaluate two-dimensional changes in upper airway anatomy. We found that certain structures were enlarged in cases of sleep apnea.” Schwab and his colleagues then used three-dimensional magnetic resonance imaging technology to explore the volume of patients’ tongues, soft palates, and lateral pharyngeal walls (located lateral to the upper airway). “We found that these structures were larger in patients with sleep apnea,” he says. “These are now considered important risk factors for developing the disorder.” (These findings were reported in the September 2003 issue of the American Journal of Respiratory Care and Critical Care Medicine, in an article first authored by Schwab.)

“The next question we asked was why were these upper airway soft structures enlarged in patients with obstructive sleep apnea?” says Schwab. “We have examined a number of different possibilities.” Some of these include weight gain, gender (sleep apnea is more common in men), and genes: “Just like you are born with brown eyes, you may be born with a certain size jaw and tongue that can increase your risk for sleep apnea.” Schwab and his fellow doctors are using MRI to discover if the structure of one’s tongue and jaw is an inheritable trait. “For instance,” he says, “if you have a certain size upper airway structure, does your brother have the same size structure and is he at risk for sleep apnea?”

Additional studies employ MRI to study the narrowing of the upper airway of patients with apnea during sleep. Schwab has created a three-dimensional computer film that demonstrates the effects of sleep apnea on the upper airway; patients can observe the walls of their airways drawing closer and closer together, until the space is no wider than a pencil.

Although Schwab and his colleagues have used these sophisticated upper airway magnetic resonance imaging techniques to understand the pathogenesis and genetics of sleep apnea, these techniques are not needed to diagnose sleep disordered breathing or treat patients. In general, individuals who believe they have apnea are, after a complete physical examination, scheduled for a sleep study at Penn’s Sleep Center, which offers outpatient practices and sleep laboratories throughout the Delaware Valley and provides diagnostic services and treatment for all disorders encountered in sleep medicine. Facilities are designed to resemble regular bedrooms and include telephones and bathrooms; patients often sleep as well there as they do at home. Trained technologists perform all tests and are available throughout the night to meet patients’ needs. Visitors to the Sleep Center arrive around eight in the evening and are discharged between six and eight the next morning.

“During the night, patients are hooked up to electrodes, and we monitor them,” says Schwab. “For the first part of the night we see if they snore and how loudly, if the snoring wakes them up or knocks them from a deeper stage of sleep to a lighter stage of sleep. Simultaneously we evaluate them for sleep apnea, which is characterized by no airflow (or reduced airflow) for ten seconds.” The doctors determine if the apnea causes oxygen drops and if it is aggravated when patients sleep on their backs, or if it becomes worse in dreaming (REM) sleep.

If apnea is diagnosed, then Schwab and his colleagues use the second part of the night to begin administering treatment in the form of CPAP (Continuous Positive Airway Pressure), a machine that acts as a pneumatic splint to open the airway. “We start patients on CPAP to determine a pressure setting that will abolish the apnea,” says Schwab. “If CPAP is successful (and it usually is), we will start them on CPAP when they come for a return appointment. Once they are placed on CPAP, there is a large increase in their upper airway caliber, which is visible on a MRI. Moreover, the snoring, apnea, and daytime sleepiness all will resolve with CPAP.” Other, more invasive treatments for apnea include upper airway surgery and oral appliances that pull the jaw forward.

The next step in Schwab’s research is to understand the genes associated with the structures of patients’ mouths and tongues, thereby identifying genetic risk factors for sleep apnea. “We are starting to perform studies with twins to look at heritability patterns of upper airway structures,” he says. “We are also phenotyping the upper airway with MRI in subjects in Iceland where they have a unique genealogical database.”

Schwab sees a future of sleepful nights for many people, as the field of sleep medicine continues to gain recognition. Already, research universities like Harvard and Brown are following Penn’s example in establishing divisions and centers for the study of sleep disorders. “Previously, in most medical centers, sleep was classified under pulmonary, neurology, or psychology,” says Schwab. “But I think in the future you are going to see sleep medicine as an independent field.” He mentors junior faculty members and pulmonary/sleep fellows at Penn, and thinks that training physicians in sleep medicine is integral to the growth of the field. “Most physicians, up until recently, never asked patients about their sleeping habits, and most patients never reported any abnormalities about their sleep,” he says. “Now, younger physicians are being lectured about sleep disorders and will know what to look for. Still, there’s more patients with sleep disorders than doctors to take care of them at this point.”

The tired people of America also need to realize that there’s a reason behind their restlessness. “There are a number of patients out there who do not realize they have sleep disorders,” says Schwab. “There is going to be a major push in the next decade for public awareness to increase, so patients will know they have a problem that needs to be treated. There has been a lot in the press recently about sleep deprivation and sleep apnea, so people are already becoming more savvy about this.”

Outside of treating the exhausted, Schwab fills his own waking hours with his wife Edna and four children, ages two through 16, at his home in Bryn Mawr. He continues to play in a Grand Master's group for lacrosse ("Lacrosse was a big part of my life at Haverford") and oversees a youth lacrosse league for girls in Lower Merion that he started six years ago, in which his daughters now play. And on the professional front, his star keeps rising as newspaper such as The Washington Post call on his expertise for stories about sleep. He continues to promote awareness of sleep disorders and sleep medicine through articles,conferences and lectures, and currently co-directs an annual course in Orlando, Fla., for sleep medicine students and practitioners across the country.

"When I graduated from medical school, there were no lectures on sleep disorders," he says. "Now I am one of the doctors giving them."