“What’s wrong with you?” Dianne Hull remembered her friend Vicky Weinstein asking, alarm evident in her voice.
The two women had just finished lunch in December 2012, and Hull breathed heavily as she walked across the kitchen of her friend’s home. Hull’s audible breathing — and increasing breathlessness — had been shoved aside in her constellation of pressing concerns. For months, Hull had been focused on a medical crisis affecting her young son.
But now Weinstein — a nurse — was delivering a forceful reminder: It was past time for Hull, then 38, to pay attention to her own health.
After Hull left that day, Weinstein, unconvinced that Hull would heed her warning, picked up the phone.
“You have to do something,” Weinstein told her husband, Philadelphia lung specialist Michael Weinstein. “Something is really wrong with Dianne.”
A month later, after Michael Weinstein’s intercession, Hull’s unusual and rare problem was diagnosed and treated. Nine months after that, she ran her first 5K race with no problem.
“It was very frustrating, because for more than a year, nobody could really figure out what was wrong,” Hull said, which made her symptoms easier to ignore once her son got sick. “I needed people to say, ‘Something’s really not right.’ ”
During a routine appointment in July 2011, Hull’s primary-care doctor remarked that she seemed slightly short of breath. Hull, who lives in Swarthmore, Pa., and works in the career services department at the University of Pennsylvania, said she didn’t think much about it, especially because the doctor didn’t seem concerned. “At that point it had probably been going on for a few years,” Hull recalled. Although she exercised regularly, Hull was pushing 40. Maybe, she thought, she needed to step it up athletically.
A month later, she mentioned the problem to Weinstein’s husband, Michael, whom Hull had known since college. He suggested she come to his office. Michael Weinstein did not detect wheezing, but he thought Hull might have developed exercise-induced asthma, which is not uncommon in middle age. He suggested she try using inhalers and an antihistamine before exercising.
Over the next year, Hull said, she periodically tried the medicines but noticed no difference. She had never smoked and took Jazzercise classes, walked and swam regularly — but noticed that increasingly she felt winded even when she exerted herself only mildly. “I couldn’t walk up a flight of stairs and talk on the phone at the same time,” Hull recalled.
In July 2012, she caught strep throat from her young daughter and saw her internist.
“Do you always wheeze?” Hull remembers her doctor asking. She told Hull she should have a chest X-ray and lung function tests after she recovered from strep. Wheezing can be a sign of an obstruction, asthma or vocal cord dysfunction.
The tests, performed a month later, were normal. Hull said the most notable aspect was the attitude of the technician who “implied there was nothing wrong with my breathing and it was all in my head.”
But Hull noticed that whenever she swam her customary 50 laps, she needed to stop after each to catch her breath.
Weinstein was puzzled because he had thought the tests would indicate that Hull had asthma. He urged Hull to schedule the gold standard of asthma tests: a methacholine challenge, which evaluates how the lungs react to inhaled substances. A negative test is believed to definitively rule out asthma.
Hull scheduled the test. Before it could be performed, her attention was commandeered by a far more pressing problem: Her 7-year-old son was hospitalized with newly diagnosed Type 1 diabetes, and managing his disease became the primary focus of Hull and her husband. “Any concern about my breathing just sort of went away,” recalled Hull, who canceled the test. “I had two kids and I was overwhelmed. There was no time for me to be sick.”
Several months later, Hull’s son had stabilized, but her breathing had worsened dramatically. She cleared her throat continously, coughed frequently and struggled through exercise classes; her breathing sounded like a high-pitched whistle. Her primary-care doctor told her she had stridor, an abnormal high-pitched sound that typically indicates a partially blocked airway. The doctor suggested allergy testing.
“I was confident I didn’t have allergies,” Hull said, but scheduled an appointment for January.
A few weeks later, she had lunch with Vicky Weinstein. At his wife’s urging, Michael Weinstein called Hull, who told him about her upcoming appointment with the allergist.
The allergist was extremely thorough — and visibly alarmed, Hull said. He agreed that something was seriously wrong with her breathing and sent her down the hall for another round of lung function tests, which were normal. He then placed his stethoscope on Hull’s throat, not over her lungs.
When she breathed, she recalled, he “recoiled, with a scared look on his face.”
“Not what you want to see,” she remembers. She asked the doctor what he had heard, and he told her he thought there might be an obstruction in her throat.
“A tumor?” she remembers asking. “I don’t know,” the allergist replied, kindly putting a hand on her shoulder. He referred Hull to an ear, nose and throat specialist, and called on her behalf for an expedited appointment.
The ENT, Hull said, was the polar opposite of the allergist: a brusque man of few words and even less reassurance. He told Hull he didn’t know what was wrong but that she needed a CT scan and possibly a bronchoscopy, a procedure that enables a doctor to inspect a patient’s airway using a flexible scope. He told Hull he suspected that her problem was not a tumor, but more likely paradoxical vocal cords, which open in the wrong way. He gave her an order for a CT scan.
Uncertain about what this meant, or what to do next, Hull turned to Weinstein.
To Weinstein, the paradoxical vocal cord hypothesis was puzzling. It didn’t explain the stridor, which was his greatest concern. In adults, stridor is often caused by trauma to the airway from a breathing tube or smoke inhalation, but Hull hadn’t experienced either of these things. Nor did she appear to have a tumor or obstruction.
Way down on the list of possible causes of stridor, Weinstein said, was a very rare disorder called subglottic tracheal stenosis. For reasons that are unclear, nearly all of those affected are white women between the ages of 30 and 50.
The disorder involves a narrowing of the windpipe just below the vocal cords. If there is no known cause — as occurs in about 15 percent of cases — the condition is deemed idiopathic. The incidence and prevalence of the disorder is not known.
Cases are often misdiagnosed as asthma or, less often, chronic obstructive pulmonary disease. There is no specific test for the disorder, but the narrowing can be seen on a CT scan of the neck.
Medications and surgery have been used to treat the stenosis, but because the condition is so rare, it isn’t known what works best.
Weinstein told Hull that he suspected she had subglottic stenosis, although he had never seen a case. When he saw the CT scan order, he noticed it was for a lung CT, not a neck scan, and intervened to have the order changed. He also referred Hull to an interventional pulmonologist at Penn’s Lung Center who specializes in treating subglottic stenosis. Hull said she was told that Penn sees about 10 cases annually.
The scan showed what Weinstein suspected: a narrowing of Hull’s trachea. The pulmonologist confirmed the diagnosis. He said “I was essentially breathing through a straw,” Hull said. “But it was such a relief for someone to say what was wrong.”
A month later, Hull underwent a bronchial dilation, which involves expanding the airway, often through use of a balloon. More-severe cases and those that don’t respond to dilation may involve delicate and difficult surgery to remove the diseased sections and reconnect the trachea. Some patients require multiple dilations, while others need only a single procedure.
“The more narrow the neck gets, it’s harder to dilate,” Weinstein said. “Then you need a resection, which is a very big operation.”
Hull said the procedure restored her trachea to about 90 percent functioning “which is good enough for me.” So far, she said, she has not needed a second procedure, although she knows from online patient groups that this remains a possibility.
“The first year out, there was a lot of anxiety,” she said, wondering if the procedure would work. “I know there are people who’ve had 12 of these” dilations.
In addition to coughing and clearing her throat more often than normal, Hull said she notices that colds linger. Recovery from the last one took three weeks.
Hull said she is especially grateful to her friend for helping to manage her case and steering her to the right expert. “I’m so lucky I know Mike,” she said.
To Weinstein, Hull’s experience illustrates the importance of persistence.
Most people with symptoms like Hull’s have asthma and “get treated and feel better,” he said. But when that doesn’t happen, “it’s important to stay on it until you get an answer.”