Copyright © 1995 by The Johns Hopkins Medical Institutions
This article originally appeared in the Spring-Summer 1995 issue of Hopkins Medical News. Distributed on the Internet courtesy of Hopkins Medical News.
By Randi Henderson and Marjorie Centofanti
In nearly every room of Kevin Leitzell's house on a shady street in suburban Philadelphia sits a footstool. Dangling from the light switches are long plastic rods, and the lock on the back door measures inches lower than on most doors. Parked in the driveway is Kevin's '94 Ford Escort, and if you peek through the window you'll see extension pedals that elevate the surfaces more than a foot.
At 17, Kevin is a junior at Haverford Township Senior High and stands an even 4 feet tall. He is an achondroplastic dwarf who uses footstools, pedal extensions and the like to compensate for his short stature. He's also sports editor of the school paper, manager of both the soccer and baseball teams, and working on getting a date for the prom. There is nothing in the demeanor of this young man, who hopes for a career in radio broadcasting or sports reporting, to indicate that he will allow his short limbs or any of the host of other physical problems that can accompany achondroplasia to limit his ambitions.
On this day, Kevin greets a visitor with a friendly smile. "My attitude toward the world," he explains, in answer to a question about everyday difficulties, "is like it or not, here I come!"
It's an outlook that has been nourished and supported by the Johns Hopkins Center for Medical Genetics, where Kevin, since he was a year old, has been one of hundreds of people of short stature who receives treatment. For years, Hopkins offered the only coordinated, interdisciplinary approach to care for dwarfs in the country. With the addition three years ago of its Kathryn and Alan C. Greenberg Center, specializing in research, teaching and treatment of skeletal dysplasia, today it is recognized as one of the world's premier facilities for medical problems associated with dwarfism.
The Center for Medical Genetics evolved out of the division of medical genetics, founded in 1957 by Victor McKusick, M.D., who even then was well on his way to becoming one of the world's foremost geneticists. A major force behind the Human Genome Project and editor of "Mendelian Inheritance in Man," the human geneticists' Bible, McKusick is an authority on genetic diseases of connective tissue, many of which result in short stature. Through the years, these patients increasingly have come to Hopkins, first for McKusick's expertise and later to be seen by the bright team of specialists he had assembled, who were providing an array of services and innovative therapies.
Dwarfism is the general classification for literally hundreds of conditions characterized by short stature, but which beyond that display a wide diversity of clinical features. In addition to the orthopedic problems caused by their stunted bone growth, little people are apt to need special treatment for neurological, otolaryngological, respiratory, dental, vision, nutritional and gynecological problems complicated by dwarfism.
Diagnosis is an early priority when new patients are seen at the Center, and the decades that McKusick and his proteges have spent cataloging the various disorders and analyzing family pedigrees help patients and their families learn the realities of their inheritance and the course their conditions could take. Yet diagnoses are no snap. "Of the 200-plus skeletal dysplasias, only about 100 are well-described," says pediatric geneticist Clair Francomano, M.D., who besides co-directing the Greenberg Center with neurologist Orest Hurko, M.D., serves also as chief of medical genetics at NIH's National Center for Human Genome Research. "The rest become private little syndromes, known only to that patient's family. These patients write their own natural history of the disease."
Adds Francomano: "Some patients can walk into the office and you know immediately by proportion, by their facial characteristics, what they have." For others, she, McKusick and fellow geneticists need an algorithm. If body parts are in proportion, they suspect something endocrine. If their disproportionate, skeletal dysplasias are more likely. For the patient with shortened limbs, the path branches again: Which part is more affected? The fingers? The feet? Some disorders, like spondyloepiphyseal dysplasia, often involve hearing loss; others, such as Stickler's syndrome, produce a very small jaw.
For a rich sampling of the many types of dwarfism, one need look no farther than the walls of the office of Kathleen "Dee" Miller, clinical coordinator of the Greenberg Center and herself an achondroplastic dwarf. Miller, who has become a trusted counselor and friend to many of the little people and their families who pass through the center, has papered her office with their photographs, including many group shots from conventions of the Little People of America that bring people of short stature together.
Formed nearly 40 years ago by 20 original members, the organization had topped 1,000 by its 1989 meeting in Baltimore. At each convention, no matter where it takes place, Hopkins' Greenberg Center now is on hand with a team of specialists to evaluate and diagnose little people seeking medical services.
Fortunately for diagnosis, the majority of skeletal dysplasias fall into one of four or five types, and about half of those with short stature of achondroplasia. Achondroplasia -- from the Greek for "without cartilage" -- is distinguished by short limbs, a moderately enlarged head, average-size trunk, a flattened nasal bridge, bowed legs, swayback, and the characteristic short-fingered trident-shaped hands, with wide separation between the third and fourth fingers. Achondroplasia is a genetic disorder, but nearly 80 percent of cases occur from spontaneous gene mutation rather than from direct inheritance, so most achondroplastic children come as surprises to their average-stature parents.
That was the case in 1978 when Cindy Leitzell gave birth to Kevin. Both Cindy and her husband, Bob, are of average stature; there are no other dwarfs in either of their families.
Kevin was diagnosed at birth, a month premature and in respiratory distress. Bob Leitzell remembers with some bitterness, "The doctor said, ‘Your son is not normal and he may never be normal.'" Bob saw the baby and was able to console his wife, who was recovering from a Caesarean section and hadn't yet seen her infant. "He doesn't look so bad," Bob told Cindy. "He's got all his fingers, he's got all his toes, he looks like a normal baby."
In the coming months, as Kevin's development stuttered along and his physical differences became more apparent, the Leitzells worked with their doctors to try to discover the reasons for their baby's persistent failure to thrive. They began to realize they were dealing with a complex pattern of physical abnormalities. "The geneticist we were seeing in Philadelphia kept referring to research done by people at Hopkins," Cindy remembers. She would call Hopkins for information. "Finally we said, ‘Hopkins is only two hours away, why are we getting everything secondhand?'"
Battling pneumonias and congestive heart failure, Kevin was evaluated at Hopkins and in and out of the hospital throughout his second year. A sleep study determined that he suffered from apnea -- failure to breathe properly as he slept -- that starved his tissues of oxygen, leading to his other problems. So, at 15 months, his breathing was assisted with a tracheostomy, and suddenly he began to thrive.
Putting a hole in the trachea may seem an extreme measure to treat a chronic problem, but -- as the Leitzells and many parents in similar situations learn -- the "trake" is not difficult to maintain with proper training and it often is the only thing that will turn the corner for children whose breathing passages are obstructed by their bone structure.
Breathing problems are common for people with underlying skeletal differences. Their smaller throats, plus a compromised nervous system, allow children's tongues to ease backward at night, blocking airflow. "Whether it's obvious or not, sleep apnea is serious," says otolaryngologist Bernard Marsh, M.D. "It deprives the brain of oxygen, and can cause long-term changes in the heart and other organs." Sometimes removing tonsils and adenoids is helpful, he adds, "but we wind up doing tracheostomies more often on achondroplastic children than those who aren't."
Like most other achondroplastic dwarfs, Kevin also suffered recurrent ear infections that were relived when tubes were placed in his ears. "In a number of the craniofacial dysplasias, the entire nose and throat is narrowed," explains Marsh. "Something about this skeletal arrangement ill-suits middle-ear ventilation, and ear infections are very common. So we know, with achrondroplastic children to resort to inserting tubes for earache much more quickly than we normally would."
Medical procedures are part of the lives of most dwarfs, whether it be the relatively uncomplicated process of clearing a trake, which the Leitzells learned to do routinely, or major surgery. Dee Miller, now 50, went most of her life without medical intervention, but four years ago she underwent a laminectomy, removal of a portion of the lamina of the vertebrae, to relieve spinal compression. Before the surgery, Miller was experiencing progressive numbness in her legs and impaired walking. Now, she says, "I'm getting around just fine. It takes a lot to slow me down."
Such neurological procedures are frequently necessary for people with spinal dysplasias, because irregular skeletons constrict or slide against nerves. Sometimes it's only occasional, causing small discomfort; other times it's chronic and endangering. Neurologist Orest Hurko, M.D., who's made these cases a specialty and has a 400-patient base, was drawn to the field, he says, "because, unlike most other genetic neurological disorders I see, those of little people are amenable to treatment."
After several decades, Hurko knows the particular concerns of each disorder. With Morquio's syndrome, for example, patients may lack a vertebral structure in the neck that helps hold the skull on the spine. They face sudden death when the head, easily dislocated, pinches the spinal cord and brain stem; or they may face paralysis from a gradual whittling away of the spinal cord. Early treatment with braces or surgery to fuse the neck vertebrae or even the head to the neck can stave off life in a wheelchair.
With achondroplasia, the problem is too much nerve in too little space and subsequent compression. With the foramen magnum -- the cranial opening for the spinal cord -- is misshapen and too small, its bony surroundings dig into nerve tissue. In young children, where the problem is greatest, sudden infant death can be the unfortunate result. Removing bone to enlarge the foramen magnum is the obvious approach, but in the past the operation has had a fearsome mortality rate in children. "You're working in a very tight spot with extremely sensitive structures," explains Hurko.
Pediatric neurosurgeon Benjamin Carson, M.D., has devised a technique using high-speed drills to pare away bone at the back and sides of the foramen. He thins the bone down "to the thickness of a cornflake," then uses small curettes to peel off the remaining bone, bit by bit. Once the constricting bone is gone, he then expands the membranes that surround the spinal cord, which have been restricting it like a too-tight bandage. "Doing the operation this way," says Carson, "we find the complication rate is quite small."
In adults, as in the case of Dee Miller, problems settle on the opposite end, on the lower spinal cord. Low back pain is a traditional complaint of older people with dwarfism. Exercise or weight loss may give relief, but when too-small vertebrae constrict the spinal cord, patients may find themselves unable to walk. This symptom, called claudication, typically comes on after patients walk a few blocks. They may feel a tingling in the legs and then, if they continue walking, legs give way. Without treatment, many of these little people become wheelchair-bound.
The late Hopkins neurosurgeon Sumio Uematsu, M.D., modified a laminectomy procedure for these patients to open or remove part of the spinal canal surrounding the spinal cord, thus giving the cord more room. Since the conventional laminectomy opens only the one or two vertebrae that are pinching, patients may need repeal operations as other vertebrae become involved. Uematsu retooled the operation into an extended laminectomy, sometimes stretching, Hurko says, "from stem to stern," involving as many as 25 vertebrae.
Since Uematsu's death last year, neurosurgeon Daniele Rigamonti, M.D., has added his own refinements to laminectomies. But it's not the skill of the surgery that's most difficult, he finds, but deciding who should get the operation. "It takes considerable experience to tell beforehand who would benefit," he says. Rigamonti and Hurko work together closely, combining their diagnostic and surgical experience to match patients with the appropriate procedure.
Orthopedics is another specialty that often comes into play when treating little people. Since braces can help irregular skeletons assume more normal positions, most patients of short stature will have some sort of orthopedic treatment. Many achondroplasts, for example, have problems with kyphosis, in which the spine abnormally curves outward.
"Braces can be helpful," says pediatric orthopedic surgeon Paul Sponseller, M.D. "The problem comes in knowing when to brace. Many young children with this disorder have kyphosis early on but then outgrow it. Unnecessary braces can present problems of their own." Other spinal dysplasias, such as SED, may require complete joint replacement, which orthopedic specialists accomplish by using small tailor-made artificial versions of the joints.
And surgery is often the answer. Like the neurosurgery that is performed on dwarfs, orthopedic surgery for these patients is an evolving process, with new techniques being devised and procedures constantly being improved. Many little people, like 12-year-old Eboni White, are operated on as toddlers, for instance, to straighten the bowleggedness that is characteristic of certain forms of dwarfism.
Eboni, an achondroplast, lives with her parents, Sue and Mack White, in a Maryland suburb near Washington, D.C. Sue White is also an achondroplast; her husband is of average stature. Mother and daughter were part of Francomano's study group to track down the gene for achondroplasia, and some of the differences in their orthopedic treatment highlight the progress that has occurred in a generation.
Eboni, who is now about 3'6", will be taller than her 4-foot mother. "My legs are very bowed and I've never had them corrected," says Sue White, who is now 38 and grew up in D.C. "My mother was concerned, she always took me for annual checkups at the Crippled Children's Hospital, and they considered surgery but they really didn't know how to do it. They talked about breaking my legs and resetting them, which we know today is the wrong thing to do. Even so, I was pretty active, I rode a bicycle, went roller-skating."
But Sue admits that she saw herself as somewhat restricted by her dwarfism, a quality she doesn't see in her daughter. "She's already shown me that she has far outpaced me when I was her age," she reflects. "She's so involved with school activities, she'll be the first to volunteer. When they have school dances, she'll just go. I would never have gone."
Young people like Eboni White and Kevin Leitzell personify a feeling of pride and self-worth common among today's generation of little people. They have had their way paved by increasing activism and antidiscrimination efforts by the Little People of America, by blunt-speaking role models like Dee Miller ("whatever you do," Miller says, sensing that a new acquaintance is not sure how to treat her, "don't pat me on the head") and, not least, by medical advances for which Johns Hopkins has been in the forefront. Step by step, those advances are allowing short-statured men and women to live longer, healthier, and more productive lives than ever before.
When Beth and Kitt May (not their real names) decided to marry after falling in love at an annual convention of the Little People of America, they knew they would be taking a chance in having children.
As achondroplastic dwarfs, both carry one normal and one mutant gene for the disorder. So, although an offspring was more likely to be born with the standard form of achondroplasia like themselves, there was also a one-in-four chance that the baby could carry the lethal double dominant mutant achondroplasia gene. In that case, every problem that goes with achondroplasia would be horribly intensified. No child with this form of the disorder has ever survived longer than two years.
For the first time, however, achondroplastic couples like the Mays can approach childbearing in a more enlightened way. This past year, using research done at Hopkins by geneticist Clair Francomano, M.D., and colleagues, California scientist John Wasmuth located the gene for achondroplasia.
Wasmuth, who'd been searching for the Huntington's disease gene, read reports by Francomano and others and noticed that the gene she suspected was responsible for achondroplasia had the same location as the one he'd zeroed in on for his study. Suddenly, the wheels started to turn.
Wasmuth quickly tested the gene in 16 achondroplastic dwarfs, and was astonished to find that 15 of them had an identical mutation on the far end of human chromosome four. His discovery signified one of the fastest jumps ever from locating a gene to pinpointing the exact explanation for a disease. "With Huntington's, it took 10 years, with achondroplasia it took 10 months," says Francomano.
Because the mutation is so consistent in those with the disorder, geneticists here have wasted no time in using a simple molecular technique to test for it. Last fall, Hopkins became the first medical center in the nation to offer in utero testing for achondroplasia genes. Francomano developed the program, a combination of counseling, CVS (chorionic villus sampling, a technique for extracting fetal cells), and lab testing for the gene.
For couples like Beth and Kitt May the technology offers new possibilities. "Knowing that test is available makes a real difference in how we feel about everything," says Beth May, who's already talked with Francomano just, she says, "to find out what's going on."
The first person to have the test, Abby Tilkin, a Long Island clothing store manager, found what she and her husband hoped to hear -- their baby is not double dominant. A boy with the single gene complement for dwarfism is due in late spring. "Relief is what I'm feeling," she says, "but even if the results would've been bad, I'd still have wanted to know."
Since genetic testing is fraught with ethical issues, Francomano says the team proceeds carefully in talks with parents. (Francomano teaches a class on genetic ethics each year at the noted Medical Genetics Short Course in Bar Harbor, Maine.) For couples like the Mays and the Tilkins, where the double dominant is a possibility, choices are clear-cut. That will not necessarily always be the case.
"So far, we've had no inquiries where only one parent is an achondroplastic dwarf and the couple wants to know if the baby's a child with dwarfism, but we could," Francomano says. "It's much too early in this game for us to have a rigid policy or practice; we're still exploring the ethical issues."
Michael Ain, M.D., doesn't deny that he has faced special challenges in his career -- not because of things he couldn't do, but things people thought he couldn't do.
"I try not to think of anything as an obstacle," says Ain, who arrives at Hopkins this summer from Albany Medical Center to begin a fellowship in pediatric orthopedic surgery and who is an achondroplastic dwarf.
Born to average-sized parents on Long Island, Ain grew up with the attitude that "there was nothing that wasn't possible for me, even though it might be more difficult or take a little harder work than it did for someone else." At Brown University, he played second base for the college baseball team, describing himself as "quick in the field and a hacker at the plate."
A math major, he never felt that his 4'3" stature was an impediment to a medical career. He was drawn to medicine partly because of his own experience as a patient -- as a boy he underwent surgery to implant ear tubes; when he was 19 he had high tibial osteotomies to correct the bowing of his legs -- but, more, he says "for all the corny reasons: I wanted to help people, I thought I could make a difference."
Ain doesn't hesitate when asked what the difficulties of medical school were for him. "Getting in," he says bluntly. "Many different medical schools told me I should not be a doctor because of my size."
The scrappy second baseman was hurt, angry and persistent. "I asked why and they couldn't give me a good reason," he says of his interactions with representatives from several different medical schools. "I said, ‘Name one thing I can't do that someone else can,' and they couldn't. I was really scared that for the first time in my life someone was going to deny me what I wanted based on my height."
But "I never doubted myself, I never thought they were right," Ain adds, and a year out of college, in his second round of applications, he was accepted at Albany Medical School. He had no problems in medical school because of his height, but faced similar apprehension when applying for a surgical residency.
Throughout the five years of his residency, which he also did at Albany, he has proved the doubters wrong with only minimum accommodations for his size. "It's no problem," he says. "Every hospital room has a footstool close by, beds come down low, there's stools all around in the OR. The sterile gowns are too long, but I just cut the bottoms off."
Michael Ain is one of only two physicians in the country who are dwarfs, according to a spokesman for the Little People of America. It's a distinction that Ain makes little of. "The way I hope people see me is -- first impression: he's short. Then, within a couple of days, you forget I'm short and just see me for what I am and what I can do."
The following letters were published in the Fall 1995 issue of Hopkins Medical News.
In your otherwise excellent article on little people, I believe you did a disservice to your readers by not including mentions of the pioneering orthopedic work of Steven Kopits, M.D.
Although Dr. Kopits is no longer at Hopkins, any article on dwarfism and its treatment there which omits his contributions is, in my opinion, incomplete.
Jack C. Childers, M.D.
Instructor, Orthopedic Surgery
For a comment on contributions by Dr. Kopits and other physicians whose training at Hopkins has enhanced the care of little people, see the following letter from Dr. Victor McKusick.
Thanks for the write-up on the Skeletal Dysplasia Center and the Little People Program at Johns Hopkins.
One aspect of the program you didn't mention was its role in training physicians in this specialty during the last 30 years. Many of these people contributed to the Little People Program during their times as residents, fellows, and/or faculty members and then moved on to initiate programs elsewhere -- in the splendid Johns Hopkins tradition.
This sizable group has included not only fellows in medical genetics and residents in pediatrics or medicine, but also trainees in orthopedics, neurology, neurosurgery, radiology, endocrinology, ophthamology and several other specialities. All of these specialties are involved in the integrated multidisciplinary care of skeletal dysplasia patients. Johns Hopkins can take pride in David Rimoin, Judy Hall, Charles Scott, Steve Kopits and many more who are stellar products of this informal but highly effective multidepartmental training program.
But the major omission from your write-up is mention of the vigorous octogenarian whose dream was a center for coordinated care of little people and who continues to be indefatigable in her fund-raising for the program. Kathryn "Kay" Smith has worked with me for 35 years.
During that time, she developed the position of patient assistant into that of clinical coordinator for the Johns Hopkins LP program -- the position that Dee Miller now fills. She has been responsible for raising funds to take a team of specialists to the annual conventions of Little People of America (LPA), to provide on-site medical consultation. Appropriately, she became an early honorary life member of LPA, which holds her in high esteem and affection.
But particularly important to the Skeletal Dysplasia Center has been Kay's friendship with Alan "Ace" Greenberg and his wife, Kathy, which goes back more than 25 years. The close personal friendship between Kay Smith and the Greenbergs is a main reason Johns Hopkins has a Skeletal Dysplasia Center.
Victor A. McKusick, M.D.
University Professor of Medical Genetics
Johns Hopkins University
I enjoyed the comprehensive article on "Life as a Little Person." However, I would like to correct a misapprehension that may arise. As the article stated, achondroplasia is a risk factor for sleep apnea that may be quite severe. The pediatric pulmonary division at Johns Hopkins therefore evaluates each child with achondroplasia.
Over the last few years, we have been very successful with the use of nasal mask ventilation ("CPAP" and "BiPAP") in children with sleep apnea, including those with achondroplasia. This obviates the need for a tracheostomy, and results in a vast improvement in the quality of life for these patients.
Carole L. Marcus, M.D.
Medical Director, Hopkins Pediatric Sleep Laboratory