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Medical genetics residents see specialists in action at the Little People of America conference
September 2013—Dave Tunkel greets his next patient and has a seat on the edge of his hotel bed. Clad in a Ravens polo shirt and with an otoscope as his only doctorly tool, the Johns Hopkins otolaryngologist chats with the patient about her tinnitus and dizziness as her husband; Tunkel’s 15-year-old daughter, who’s here to see her dad in action; and medical genetics resident Jasmin Roohi look on. This is not your typical visit to the doctor.
What it is is the continuation of a long partnership between the Little People of America (LPA) organization and the physicians who make up the Medical Advisory Board, many of whom work at Johns Hopkins and all of whom have experience treating people with what are medically known as skeletal dysplasias. Each year at LPA’s national conference, these doctors spend three days doing free medical consultations with conference-goers, a service that can be a boon to people whose usual doctors may never have encountered another person with their condition, says Colleen Gioffreda, clinical programs coordinator at Johns Hopkins’ Greenberg Center for Skeletal Dysplasias and a longtime LPA member.
But the conference attendees are not the only beneficiaries of the medical consultations. Trainees like Roohi are here to observe, and they’re making the most of the opportunity, keeping an eagle eye out for doctors they want to see in action and dashing down hallways to intercept them between consultations. After a few sessions with Tunkel, Roohi goes a few doors down to sit in on two consultations with Julie Hoover-Fong, a pediatrician, clinical geneticist and director of the Greenberg Center. In one, Hoover-Fong sees a 7-year-old girl with achondroplasia, one of the most common skeletal dysplasias, and she talks to the girl’s mother about what to expect, at one point pulling out a chart to predict the girl’s adult height.
The second patient, a healthy-looking though small-for-her-age baby, is a tougher case. While she clearly has some type of skeletal dysplasia, it’s one Hoover-Fong can’t match to anything she’s seen before, and thus probably very rare. She explains to the baby’s parents that a diagnosis would help them anticipate future health problems, as well as avoid unneeded anxiety and tests by revealing what they don’t need to worry about. Fortunately there’s a committee at Johns Hopkins dedicated to trying to figure out diagnoses for such mysterious genetic conditions. Hoover-Fong gets a CD of X-rays from the mother, snaps pictures of the baby’s features as she crawls and then pounds on a table, and promises to be in touch.
“It’s a little strange examining people in a hotel room, but everyone is more relaxed,” Roohi later observes. “It’s nice to see patients in a nonmedical environment.” She’s gleaned more concrete insights from the experience as well, such as that people with achondroplasia, like many others, do not always need antibiotics for ear infections.
The LPA consultations are a great learning opportunity for aspiring clinical geneticists, and residents in the medical genetics program are required to attend the conference for that reason, says Hoover-Fong. The program equips trainees to act as general practitioners for people with genetic conditions, so it’s important that they be familiar with many such conditions. Hoover-Fong explains that the tradition of LPA members and Johns Hopkins physicians learning from one another goes back to Victor McKusick, a founder of the field of medical genetics, who began coming to LPA meetings in the 1960s. Through medical consultations and research with LPA members, McKusick and his trainees were able to characterize many skeletal dysplasias for the first time, work that eventually led to the founding of the Greenberg Center.
Today the LPA has grown to thousands of members, and the Medical Advisory Board has expanded its activities accordingly. At the national conference, held this year at Washington’s Marriott Wardman Hotel, activities included an expo, speed dating, sightseeing excursions and informational sessions geared toward a spectrum of different age groups, as well as medical workshops led by Medical Advisory Board members. On the second floor, conference-goers signed up for clinical consultations at tables staffed by Gioffreda and others. Many of this year’s participants were Spanish-speakers, some of them visitors from outside the United States, and medical genetics resident Carlos Ferreira, a native of Paraguay, found himself translating as well as observing.
“The most valuable part of the experience for me was getting to see patients with 12 or 15 disorders I'd never seen before, and may never see again—some of them were really rare,” he said later. “Now I feel like I’m better able to diagnose patients with these conditions if I see them, and much more confident answering their questions.” Exploring the nonclinical parts of the conference was also educational, Ferreira said: “It helped me get to know some of the nonmedical issues these patients deal with—for example, the accommodations that they need at home or to drive a car.”
“It’s encouraging to see how well individuals with significant disorders are able to function,” said Leah Fleming, another medical genetics resident. Like Ferreira, she was happy to have the chance to meet people with such a variety of conditions in a nonmedical environment. “Not many clinicians see even four or five skeletal dysplasias in an entire year,” she said.
In short, while the second floor of a hotel makes for an unconventional classroom, it plays a key part in readying Fleming and her fellow residents to be just the sort of doctors LPA members need. As Gioffreda says, “the patients here are comfortable because the doctors have seen hundreds of others like them.”