Copyright © 1995 by The Johns Hopkins Medical Institutions
This article originally appeared in the Spring-Summer 1995 issueof Hopkins Medical News. Distributed on the Internet courtesyof Hopkins Medical News.
By Randi Henderson and Marjorie Centofanti
In nearly every room of Kevin Leitzell's house on a shady streetin suburban Philadelphia sits a footstool. Dangling from the lightswitches are long plastic rods, and the lock on the back doormeasures inches lower than on most doors. Parked in the driveway isKevin's '94 Ford Escort, and if you peek through the window you'llsee extension pedals that elevate the surfaces more than a foot.
At 17, Kevin is a junior at Haverford Township Senior High andstands an even 4 feet tall. He is an achondroplastic dwarf who usesfootstools, pedal extensions and the like to compensate for his shortstature. He's also sports editor of the school paper, manager of boththe soccer and baseball teams, and working on getting a date for theprom. There is nothing in the demeanor of this young man, who hopesfor a career in radio broadcasting or sports reporting, to indicatethat he will allow his short limbs or any of the host of otherphysical problems that can accompany achondroplasia to limit hisambitions.
On this day, Kevin greets a visitor with a friendly smile. "Myattitude toward the world," he explains, in answer to a questionabout everyday difficulties, "is like it or not, here I come!"
It's an outlook that has been nourished and supported by the JohnsHopkins Center for Medical Genetics, where Kevin, since he was a yearold, has been one of hundreds of people of short stature who receivestreatment. For years, Hopkins offered the only coordinated,interdisciplinary approach to care for dwarfs in the country. Withthe addition three years ago of its Kathryn and Alan C. GreenbergCenter, specializing in research, teaching and treatment of skeletaldysplasia, today it is recognized as one of the world's premierfacilities for medical problems associated with dwarfism.
The Center for Medical Genetics evolved out of the division ofmedical genetics, founded in 1957 by Victor McKusick, M.D., who eventhen was well on his way to becoming one of the world's foremostgeneticists. A major force behind the Human Genome Project and editorof "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, thesepatients increasingly have come to Hopkins, first for McKusick'sexpertise and later to be seen by the bright team of specialists hehad assembled, who were providing an array of services and innovativetherapies.
Dwarfism is the general classification for literally hundreds ofconditions characterized by short stature, but which beyond thatdisplay a wide diversity of clinical features. In addition to theorthopedic problems caused by their stunted bone growth, littlepeople are apt to need special treatment for neurological,otolaryngological, respiratory, dental, vision, nutritional andgynecological problems complicated by dwarfism.
Diagnosis is an early priority when new patients are seen at theCenter, and the decades that McKusick and his proteges have spentcataloging the various disorders and analyzing family pedigrees helppatients and their families learn the realities of their inheritanceand the course their conditions could take. Yet diagnoses are nosnap. "Of the 200-plus skeletal dysplasias, only about 100 arewell-described," says pediatric geneticist Clair Francomano, M.D.,who besides co-directing the Greenberg Center with neurologist OrestHurko, M.D., serves also as chief of medical genetics at NIH'sNational Center for Human Genome Research. "The rest become privatelittle syndromes, known only to that patient's family. These patientswrite their own natural history of the disease."
Adds Francomano: "Some patients can walk into the office and youknow immediately by proportion, by their facial characteristics, whatthey have." For others, she, McKusick and fellow geneticists need analgorithm. If body parts are in proportion, they suspect somethingendocrine. If their disproportionate, skeletal dysplasias are morelikely. For the patient with shortened limbs, the path branchesagain: Which part is more affected? The fingers? The feet? Somedisorders, like spondyloepiphyseal dysplasia, often involve hearingloss; others, such as Stickler's syndrome, produce a very small jaw.
For a rich sampling of the many types of dwarfism, one need lookno farther than the walls of the office of Kathleen "Dee" Miller,clinical coordinator of the Greenberg Center and herself anachondroplastic dwarf. Miller, who has become a trusted counselor andfriend to many of the little people and their families who passthrough the center, has papered her office with their photographs,including many group shots from conventions of theLittle People of America thatbring people of short stature together.
Formed nearly 40 years ago by 20 original members, theorganization had topped 1,000 by its 1989 meeting in Baltimore. Ateach convention, no matter where it takes place, Hopkins' GreenbergCenter now is on hand with a team of specialists to evaluate anddiagnose little people seeking medical services.
Fortunately for diagnosis, the majority of skeletal dysplasiasfall into one of four or five types, and about half of those withshort stature of achondroplasia. Achondroplasia -- from the Greek for"without cartilage" -- is distinguished by short limbs, a moderatelyenlarged head, average-size trunk, a flattened nasal bridge, bowedlegs, swayback, and the characteristic short-fingered trident-shapedhands, with wide separation between the third and fourth fingers.Achondroplasia is a genetic disorder, but nearly 80 percent of casesoccur from spontaneous gene mutation rather than from directinheritance, so most achondroplastic children come as surprises totheir 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 noother dwarfs in either of their families.
Kevin was diagnosed at birth, a month premature and in respiratorydistress. Bob Leitzell remembers with some bitterness, "The doctorsaid, ‘Your son is not normal and he may never be normal.'" Bob sawthe baby and was able to console his wife, who was recovering from aCaesarean section and hadn't yet seen her infant. "He doesn't look sobad," Bob told Cindy. "He's got all his fingers, he's got all histoes, he looks like a normal baby."
In the coming months, as Kevin's development stuttered along andhis physical differences became more apparent, the Leitzells workedwith their doctors to try to discover the reasons for their baby'spersistent failure to thrive. They began to realize they were dealingwith a complex pattern of physical abnormalities. "The geneticist wewere seeing in Philadelphia kept referring to research done by peopleat Hopkins," Cindy remembers. She would call Hopkins for information."Finally we said, ‘Hopkins is only two hours away, why are we gettingeverything secondhand?'"
Battling pneumonias and congestive heart failure, Kevin wasevaluated at Hopkins and in and out of the hospital throughout hissecond year. A sleep study determined that he suffered from apnea --failure to breathe properly as he slept -- that starved his tissuesof oxygen, leading to his other problems. So, at 15 months, hisbreathing was assisted with a tracheostomy, and suddenly he began tothrive.
Putting a hole in the trachea may seem an extreme measure to treata chronic problem, but -- as the Leitzells and many parents insimilar situations learn -- the "trake" is not difficult to maintainwith proper training and it often is the only thing that will turnthe corner for children whose breathing passages are obstructed bytheir bone structure.
Breathing problems are common for people with underlying skeletaldifferences. Their smaller throats, plus a compromised nervoussystem, allow children's tongues to ease backward at night, blockingairflow. "Whether it's obvious or not, sleep apnea is serious," saysotolaryngologist Bernard Marsh, M.D. "It deprives the brain ofoxygen, and can cause long-term changes in the heart and otherorgans." Sometimes removing tonsils and adenoids is helpful, he adds,"but we wind up doing tracheostomies more often on achondroplasticchildren than those who aren't."
Like most other achondroplastic dwarfs, Kevin also sufferedrecurrent ear infections that were relived when tubes were placed inhis ears. "In a number of the craniofacial dysplasias, the entirenose and throat is narrowed," explains Marsh. "Something about thisskeletal arrangement ill-suits middle-ear ventilation, and earinfections are very common. So we know, with achrondroplasticchildren to resort to inserting tubes for earache much more quicklythan we normally would."
Medical procedures are part of the lives of most dwarfs, whetherit be the relatively uncomplicated process of clearing a trake, whichthe Leitzells learned to do routinely, or major surgery. Dee Miller,now 50, went most of her life without medical intervention, but fouryears ago she underwent a laminectomy, removal of a portion of thelamina of the vertebrae, to relieve spinal compression. Before thesurgery, Miller was experiencing progressive numbness in her legs andimpaired walking. Now, she says, "I'm getting around just fine. Ittakes a lot to slow me down."
Such neurological procedures are frequently necessary for peoplewith spinal dysplasias, because irregular skeletons constrict orslide against nerves. Sometimes it's only occasional, causing smalldiscomfort; other times it's chronic and endangering. NeurologistOrest Hurko, M.D., who's made these cases a specialty and has a400-patient base, was drawn to the field, he says, "because, unlikemost other genetic neurological disorders I see, those of littlepeople are amenable to treatment."
After several decades, Hurko knows the particular concerns of eachdisorder. With Morquio's syndrome, for example, patients may lack avertebral structure in the neck that helps hold the skull on thespine. They face sudden death when the head, easily dislocated,pinches the spinal cord and brain stem; or they may face paralysisfrom a gradual whittling away of the spinal cord. Early treatmentwith braces or surgery to fuse the neck vertebrae or even the head tothe neck can stave off life in a wheelchair.
With achondroplasia, the problem is too much nerve in too littlespace and subsequent compression. With the foramen magnum -- thecranial opening for the spinal cord -- is misshapen and too small,its bony surroundings dig into nerve tissue. In young children, wherethe problem is greatest, sudden infant death can be the unfortunateresult. Removing bone to enlarge the foramen magnum is the obviousapproach, but in the past the operation has had a fearsome mortalityrate in children. "You're working in a very tight spot with extremelysensitive structures," explains Hurko.
Pediatric neurosurgeon Benjamin Carson, M.D., has devised atechnique using high-speed drills to pare away bone at the back andsides of the foramen. He thins the bone down "to the thickness of acornflake," then uses small curettes to peel off the remaining bone,bit by bit. Once the constricting bone is gone, he then expands themembranes that surround the spinal cord, which have been restrictingit like a too-tight bandage. "Doing the operation this way," saysCarson, "we find the complication rate is quite small."
In adults, as in the case of Dee Miller, problems settle on theopposite end, on the lower spinal cord. Low back pain is atraditional complaint of older people with dwarfism. Exercise orweight loss may give relief, but when too-small vertebrae constrictthe spinal cord, patients may find themselves unable to walk. Thissymptom, called claudication, typically comes on after patients walka few blocks. They may feel a tingling in the legs and then, if theycontinue walking, legs give way. Without treatment, many of theselittle people become wheelchair-bound.
The late Hopkins neurosurgeon Sumio Uematsu, M.D., modified alaminectomy procedure for these patients to open or remove part ofthe spinal canal surrounding the spinal cord, thus giving the cordmore room. Since the conventional laminectomy opens only the one ortwo vertebrae that are pinching, patients may need repeal operationsas other vertebrae become involved. Uematsu retooled the operationinto an extended laminectomy, sometimes stretching, Hurko says, "fromstem 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 notthe skill of the surgery that's most difficult, he finds, butdeciding who should get the operation. "It takes considerableexperience to tell beforehand who would benefit," he says. Rigamontiand Hurko work together closely, combining their diagnostic andsurgical experience to match patients with the appropriate procedure.
Orthopedics is another specialty that often comes into play whentreating little people. Since braces can help irregular skeletonsassume more normal positions, most patients of short stature willhave some sort of orthopedic treatment. Many achondroplasts, forexample, have problems with kyphosis, in which the spine abnormallycurves outward.
"Braces can be helpful," says pediatric orthopedic surgeon PaulSponseller, M.D. "The problem comes in knowing when to brace. Manyyoung children with this disorder have kyphosis early on but thenoutgrow it. Unnecessary braces can present problems of their own."Other spinal dysplasias, such as SED, may require complete jointreplacement, which orthopedic specialists accomplish by using smalltailor-made artificial versions of the joints.
And surgery is often the answer. Like the neurosurgery that isperformed on dwarfs, orthopedic surgery for these patients is anevolving process, with new techniques being devised and proceduresconstantly being improved. Many little people, like 12-year-old EboniWhite, are operated on as toddlers, for instance, to straighten thebowleggedness that is characteristic of certain forms of dwarfism.
Eboni, an achondroplast, lives with her parents, Sue and MackWhite, in a Maryland suburb near Washington, D.C. Sue White is alsoan achondroplast; her husband is of average stature. Mother anddaughter were part of Francomano's study group to track down the genefor achondroplasia, and some of the differences in their orthopedictreatment highlight the progress that has occurred in a generation.
Eboni, who is now about 3'6", will be taller than her 4-footmother. "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 wasconcerned, she always took me for annual checkups at the CrippledChildren's Hospital, and they considered surgery but they reallydidn't know how to do it. They talked about breaking my legs andresetting them, which we know today is the wrong thing to do. Evenso, I was pretty active, I rode a bicycle, went roller-skating."
But Sue admits that she saw herself as somewhat restricted by herdwarfism, a quality she doesn't see in her daughter. "She's alreadyshown me that she has far outpaced me when I was her age," shereflects. "She's so involved with school activities, she'll be thefirst to volunteer. When they have school dances, she'll just go. Iwould never have gone."
Young people like Eboni White and Kevin Leitzell personify afeeling of pride and self-worth common among today's generation oflittle people. They have had their way paved by increasing activismand antidiscrimination efforts by the Little People of America, byblunt-speaking role models like Dee Miller ("whatever you do," Millersays, 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 forwhich Johns Hopkins has been in the forefront. Step by step, thoseadvances 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 marryafter falling in love at an annual convention of the Little People ofAmerica, they knew they would be taking a chance in having children.
As achondroplastic dwarfs, both carry one normal and one mutantgene for the disorder. So, although an offspring was more likely tobe born with the standard form of achondroplasia like themselves,there was also a one-in-four chance that the baby could carry thelethal double dominant mutant achondroplasia gene. In that case,every problem that goes with achondroplasia would be horriblyintensified. No child with this form of the disorder has eversurvived longer than two years.
For the first time, however, achondroplastic couples like the Mayscan 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 genefor achondroplasia.
Wasmuth, who'd been searching for the Huntington's disease gene,read reports by Francomano and others and noticed that the gene shesuspected was responsible for achondroplasia had the same location asthe one he'd zeroed in on for his study. Suddenly, the wheels startedto turn.
Wasmuth quickly tested the gene in 16 achondroplastic dwarfs, andwas astonished to find that 15 of them had an identical mutation onthe far end of human chromosome four. His discovery signified one ofthe fastest jumps ever from locating a gene to pinpointing the exactexplanation for a disease. "With Huntington's, it took 10 years, withachondroplasia 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 moleculartechnique to test for it. Last fall, Hopkins became the first medicalcenter in the nation to offer in utero testing for achondroplasiagenes. Francomano developed the program, a combination of counseling,CVS (chorionic villus sampling, a technique for extracting fetalcells), and lab testing for the gene.
For couples like Beth and Kitt May the technology offers newpossibilities. "Knowing that test is available makes a realdifference in how we feel about everything," says Beth May, who'salready talked with Francomano just, she says, "to find out what'sgoing on."
The first person to have the test, Abby Tilkin, a Long Islandclothing store manager, found what she and her husband hoped to hear-- their baby is not double dominant. A boy with the single genecomplement for dwarfism is due in late spring. "Relief is what I'mfeeling," she says, "but even if the results would've been bad, I'dstill have wanted to know."
Since genetic testing is fraught with ethical issues, Francomanosays the team proceeds carefully in talks with parents. (Francomanoteaches a class on genetic ethics each year at the noted MedicalGenetics Short Course in Bar Harbor, Maine.) For couples like theMays 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 anachondroplastic dwarf and the couple wants to know if the baby's achild with dwarfism, but we could," Francomano says. "It's much tooearly in this game for us to have a rigid policy or practice; we'restill exploring the ethical issues."
Michael Ain, M.D., doesn't deny that he has faced specialchallenges in his career -- not because of things he couldn't do, butthings people thought he couldn't do.
"I try not to think of anything as an obstacle," says Ain, whoarrives at Hopkins this summer from Albany Medical Center to begin afellowship in pediatric orthopedic surgery and who is anachondroplastic dwarf.
Born to average-sized parents on Long Island, Ain grew up with theattitude that "there was nothing that wasn't possible for me, eventhough it might be more difficult or take a little harder work thanit did for someone else." At Brown University, he played second basefor the college baseball team, describing himself as "quick in thefield and a hacker at the plate."
A math major, he never felt that his 4'3" stature was animpediment to a medical career. He was drawn to medicine partlybecause of his own experience as a patient -- as a boy he underwentsurgery to implant ear tubes; when he was 19 he had high tibialosteotomies to correct the bowing of his legs -- but, more, he says"for all the corny reasons: I wanted to help people, I thought Icould make a difference."
Ain doesn't hesitate when asked what the difficulties of medicalschool were for him. "Getting in," he says bluntly. "Many differentmedical schools told me I should not be a doctor because of my size."
The scrappy second baseman was hurt, angry and persistent. "Iasked why and they couldn't give me a good reason," he says of hisinteractions with representatives from several different medicalschools. "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 mylife someone was going to deny me what I wanted based on my height."
But "I never doubted myself, I never thought they were right," Ainadds, and a year out of college, in his second round of applications,he was accepted at Albany Medical School. He had no problems inmedical school because of his height, but faced similar apprehensionwhen applying for a surgical residency.
Throughout the five years of his residency, which he also did atAlbany, he has proved the doubters wrong with only minimumaccommodations for his size. "It's no problem," he says. "Everyhospital room has a footstool close by, beds come down low, there'sstools all around in the OR. The sterile gowns are too long, but Ijust cut the bottoms off."
Michael Ain is one of only two physicians in the country who aredwarfs, according to a spokesman for the Little People of America.It's a distinction that Ain makes little of. "The way I hope peoplesee me is -- first impression: he's short. Then, within a couple ofdays, you forget I'm short and just see me for what I am and what Ican do."
The following letters were published in the Fall 1995 issue ofHopkins Medical News.
In your otherwise excellent article on little people, I believeyou did a disservice to your readers by not including mentions of thepioneering orthopedic work of Steven Kopits, M.D.
Although Dr. Kopits is no longer at Hopkins, any article ondwarfism and its treatment there which omits his contributions is, inmy opinion, incomplete.
Jack C. Childers, M.D.
Instructor, Orthopedic Surgery
For a comment on contributions by Dr. Kopits and otherphysicians whose training at Hopkins has enhanced the care of littlepeople, see the following letter from Dr. Victor McKusick.
Thanks for the write-up on the Skeletal Dysplasia Center and theLittle People Program at Johns Hopkins.
One aspect of the program you didn't mention was its role intraining physicians in this specialty during the last 30 years. Manyof these people contributed to the Little People Program during theirtimes as residents, fellows, and/or faculty members and then moved onto initiate programs elsewhere -- in the splendid Johns Hopkinstradition.
This sizable group has included not only fellows in medicalgenetics and residents in pediatrics or medicine, but also traineesin orthopedics, neurology, neurosurgery, radiology, endocrinology,ophthamology and several other specialities. All of these specialtiesare involved in the integrated multidisciplinary care of skeletaldysplasia patients. Johns Hopkins can take pride in David Rimoin,Judy Hall, Charles Scott, Steve Kopits and many more who are stellarproducts of this informal but highly effective multidepartmentaltraining program.
But the major omission from your write-up is mention of thevigorous octogenarian whose dream was a center for coordinated careof little people and who continues to be indefatigable in herfund-raising for the program. Kathryn "Kay" Smith has worked with mefor 35 years.
During that time, she developed the position of patient assistantinto that of clinical coordinator for the Johns Hopkins LP program --the position that Dee Miller now fills. She has been responsible forraising funds to take a team of specialists to the annual conventionsof Little People of America (LPA), to provide on-site medicalconsultation. Appropriately, she became an early honorary life memberof LPA, which holds her in high esteem and affection.
But particularly important to the Skeletal Dysplasia Center hasbeen Kay's friendship with Alan "Ace" Greenberg and his wife, Kathy,which goes back more than 25 years. The close personal friendshipbetween Kay Smith and the Greenbergs is a main reason Johns Hopkinshas 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. Asthe article stated, achondroplasia is a risk factor for sleep apneathat may be quite severe. The pediatric pulmonary division at JohnsHopkins therefore evaluates each child with achondroplasia.
Over the last few years, we have been very successful with the useof nasal mask ventilation ("CPAP" and "BiPAP") in children with sleepapnea, including those with achondroplasia. This obviates the needfor a tracheostomy, and results in a vast improvement in the qualityof life for these patients.
Carole L. Marcus, M.D.
Medical Director, Hopkins Pediatric Sleep Laboratory