June 2009--In July 2009, about 3,500 dwarfs or Little People from all over the world will converge on Brooklyn, N.Y., for what is expected to be the biggest-ever National Conference of the Little People of America. The staff of the Johns Hopkins Greenberg Center for Skeletal Dysplasias will be there, manning the medical consultations , serving many who might otherwise not have the opportunity to meet with a group whose expertise is diagnosing, treating and managing the various types of skeletal dysplasia.
Dr. Benjamin Carson with patient
Dee Miller was 2 years old in 1946 when a doctor at Johns Hopkins Harriet Lane Clinic diagnosed her as a dwarf: “Your child’s going to be short,” her mother was told. Period.
“My mom didn’t know what to expect from one week to the next,” says Dee, senior clinical program coordinator for the Greenberg Center for Skeletal Dysplasias in the McKusick-Nathans Institute of Genetic Medicine at Johns Hopkins University.
Dee’s dad made sense of her dwarfism by reasoning that the crops were bad everywhere in the mid-1940s: “There just wasn’t enough to go around,” he told her mom.
Dee was the youngest child in an otherwise average-sized family with no history of dwarfism. Her parents, who had never met a little person, suddenly found themselves responsible for raising one: “The only ones we saw were in carnivals,” Dee says. “We never got close enough to talk; we were a little afraid of them, anyway.”
The summer that she was 21, Dee trekked from Baltimore to Gloucester, N.J., to attend a gathering of a couple hundred short-stature individuals. She recalls sitting on the floor, listening with rapt attention to an average-sized man who, like her, was attending his first national conference for Little People: “He talked about how he was starting to classify different types of dwarfism, and asked for research volunteers.
“Back in 1965, if you were a Little Person, you assumed you had achondroplasia which is the most common type of dwarfism, and the condition I have.”
That speaker with the radical idea of dwarfism actually being an umbrella for many unique kinds of conditions was, of course, the late Dr. Victor McKusick who no more profoundly shaped the study and practice of genetic medicine than he influenced Dee’s own life.
It was in 1966 that he invited her to work with him in a special clinic for short-stature patients, in the context of which he and a dedicated team of geneticists started identifying various types of skeletal dysplasias and other skeletal conditions which today number almost 400.
That diverse group of conditions is the focus of the Greenberg Center which, with an endowment from Kathryn and Alan C. Greenberg, was formalized in 1990 as an official “Center” at Johns Hopkins.
Notable and numerous as the research and medical applications of McKusick’s work are for Little People who have travelled here from all over the world for diagnoses of their particular conditions, it’s the legacy of his psychological and social insights that Dee treasures.
“Many parents came to ask Dr. McKusick if there was a cure for dwarfism,” Dee says. “He would sit down with them, take their baby on his lap, and say, “This is a healthy baby and he can achieve anything he sets his mind to -- with your help.”
The Greenberg Center team, led by Director Julie Hoover-Fong M.D., treats the person inside the condition, Dee says: “We tell them it’s all about filling the distance between the ears -- that’s what counts -- not the distance from the top of the head to the floor.”
The missions of education, empowerment and support are central to the Greenberg Center as are comprehensive diagnostic evaluations, genetic counseling and coordination of care among specialty clinics at Johns Hopkins. For that reason, the Center sponsors monthly educational conferences, the subject matter of which ranges from an ongoing clinical research project involving hypertension – a newly recognized problem in Little People – to panel discussions among patients and parents of patients about the psycho-social aspects of dwarfism.
At a recent conference, average- and short-stature parents fielded questions from medical professionals and trainees in genetics, nutrition and pediatrics. Colleen, a short-stature mother of four children with dwarfism, talked about how she and her short-stature husband handled it when her son was called a “midget” at school.
“I told the teacher that’s a word we find offensive, but that most people don’t know that, and I volunteered to talk to the class for 15 minutes about how I drive and how we do laundry, and field questions. The teacher declined my offer, saying she didn’t want to “open a can of worms.”
A collective sigh emanated from the audience: The enlightenment of the average-stature world about dwarfs has been a work in progress since Egyptian times, when Little People were considered toys.
Laura, an average-stature mother of eight average-stature children ranging in age from 23 to 1½ spoke candidly about her own gaffs while raising her 5-year-old daughter, Alyssa, whose particular type dwarfism has manifested itself in “lots of breathing issues” that necessitated several sleep studies and surgery before she was 2 ½.
“As an infant, she was turning blue all the time,” Laura recalled. “Her brain stem was being squeezed, basically telling her not to breathe. When I met the doctor who would perform the decompression surgery on my 8-week-old baby, I wanted to know if he had done any of these before, and how many? I did want to see some credentials.
“I didn’t realize that I was grilling the world-famous Dr. Benjamin Carson . . .”
In addition to several neurosurgeons who populate the core referral team of the Greenberg Center, there are maternal fetal medicine experts, ophthalmologists, orthopedists, pulmonologists, an otolaryngologist and radiologist. The clinical staff of the center includes a genetic counselor, physician assistant, nurse nutritionist and clinic coordinator.
“We’ve made a concerted effort to try to circle the wagons in order to provide a centralized place to coordinate care for Little People, using subspecialists and other resources as needed,” says Greenberg Center Clinical Director Julie Hoover-Fong.