Dwarfism FAQ (part 1 of 2)
Dan Kennedy
Dwarfism
Frequently Asked Questions
An information sheet on issues related to dwarfism, on-line resources, and
the Little People of America
Monthly posting
Last updated on September 1, 1996
Send questions, comments, additions, and suggestions to:
Dan Kennedy
FAQ editor and compiler
Send in your ideas!
The Dwarfism FAQ is limited only by your imagination. We can make this as
detailed and comprehensive as we like. If there's something you'd like to
see here, write it up, send it to me at dken...@shore.net, and I'll add it.
All I ask is that you stick to the Q&A format that's standard on the
Internet.
----------------------------------------------------------------------------
Dwarfism resources on the Internet
The Dwarfism Mailing List, started at the beginning of 1996, has replaced
the Usenet newsgroup alt.support.dwarfism as the primary forum for the
discussion of issues related to dwarfism.
To subscribe to the mailing list, follow these steps:
1. Send e-mail to list...@ucsd.edu
2. Leave the subject line blank; or, if your mail program requires that
you enter something, just type anything, since the subject line will be
ignored
3. The body of your message should read: "subscribe dwarfism" (don't
actually use the quotation marks)
That's it! You'll receive a message confirming that you subscribed, along
with some information that you should save. Using it is very simple. You
will automatically be mailed all messages posted to the list.
To post your own message to the list, send mail to dwar...@ucsd.edu. Please
try to be specific in filling out the subject line. A lot of messages are
posted to the list, and carefully filled-out subject lines can save people a
lot of time when sorting through their e-mail.
If you ever need to unsubscribe, follow steps 1 through 3 above,
substituting the command "unsubscribe dwarfism" in step 3.
So what has happened to alt.support.dwarfism? It continues to exist. (One of
the many quirks of the Internet is that it's nearly impossible to kill a
Usenet group once it's been created.) I continue to post messages from time
to time, such as this FAQ, to publicize the e-mail list. And if anyone
wanders into a.s.d., I let that person know about the list.
The Dwarfism Home Page, on the Internet's World-Wide Web, serves as the
principal jumping-off point for dwarfism resources on the Net. It already
includes this FAQ, for instance, as well as numerous other resources. It's
listed in Yahoo, Lycos, Alta Vista, and other popular Internet-searching
sites, which means that anyone looking for information about dwarfism should
easily find it. You can reach the home page at
http://www-bfs.ucsd.edu/dwarfism. Add it to your hot list today!
Both the mailing list and the home page are the work of, a short-statured
member of LPA who works at the University of San Diego. Nancy has done a
tremendous job in a very short period of time. The next step is to get more
content on the home page -- LPA Today, district and chapter newsletters, and
the like. But what Nancy has already accomplished has put us light-years
ahead of where we were just a few months ago.
Casey Hubelbank, LPA's teen coordinator, recently put the first issue of
Teen LPA Today on the Web. It's a first-rate effort with lots of articles
and even a color photo. Check it out at
http://owls.com/~jerry/lpaten01.html.
Nick Koonce has started a Web page called the LPA Interactive E-Mail
Directory. It's a do-it-yourself directory that lets you add, subtract, or
change your personal information. It is located at
http://www.west.net/~atroll/emaildir.sht.
Jane and Jim Skon have created a Web page devoted to spondylo-epiphyseal
dysplasia (SED), one of the most common forms of dwarfism. The address is
http://www.cis.ohio-state.edu/~skon/SEDPAGE.html.
Among the more interesting features of the SED page is a link to the Online
Mendelian Inheritance in Man database, part of the National Center for
Biotechnology Information. OMIM, which can be searched by keyword, contains
a wealth of information on dwarfism and other genetic conditions. You can
reach OMIM directly at http://www3.ncbi.nlm.nih.gov/Omim.
The Greenberg Center for Skeletal Dysplasias, at Johns Hopkins Medical
Center, in Baltimore, may well be the leading organization in the country
for the diagnosis and treatment of dwarfism-related medical issues. The
center is now on the Web at
http://www.med.jhu.edu/Greenberg.Center/Greenbrg.htm.
The Human Growth Foundation, an excellent resource for dwarfism-related
information, recently went on-line at http://www.medhelp.org/web/hgf.htm.
The foundation's email address is hgf...@erols.com, and it can also be
reached at (800) 451-6434.
Shawn has put together a Web page that contains links to the Dwarfism Home
Page and other resources as well. The location is
http://www.neosoft.com/~brycel/SBHTM /trial.htm.
Dr. Judy Badner, a short-statured geneticist and psychologist, has a Web
site that deals with dwarfism, autism, and other topics. You'll find it at
http://users.aol.com/jbadner672/incoming/index.htm.
Craig and Susan Miller have put together a Web site devoted to their son
Sean, an achondroplastic dwarf who as of this writing is about a year and a
half old. Check it out at http://www.zilker.com/~dcm/sean. Cute pictures!
----------------------------------------------------------------------------
Q: What is the definition of dwarfism?
A: The Little People of America (LPA) defines dwarfism as an adult height of
4-10 or shorter, among both men and women, as the result of a medical or
genetic condition.
Q: What are the most common types of dwarfism?
A: By far the most frequently diagnosed cause of short stature is
achondroplasia, a genetic condition that results in disproportionately short
arms and legs. (The term "disproportionate" is meant only as a point of
comparison with people who do not have achondroplasia or any other type of
skeletal dysplasia. The arms and legs of a person with achondroplasia are
perfectly appropriate for someone with that genetic condition.) The average
height of adults with achondroplasia is 4-0. Other genetic conditions that
result in short stature include spondylo-epiphyseal dysplasia (SED),
diastrophic dysplasia, pseudoachondroplasia, hypochondroplasia, and
osteogenesis imperfecta (OI). As one might expect from their names,
pseudoachondroplasia and hypochondroplasia are conditions that are
frequently confused with achondroplasia; diastropic dysplasia occasionally
is, too. OI is characterized by fragile bones that fracture easily. A number
of support services, including an Internet mailing list, exist to help
people with OI and their families.
In addition, a new support group has been launched for people affected by
Kniest syndrome, a relatively rare form of dwarfism. For information,
contact Cory and Julia Sondrol, 4956 Queen Ave. South, Minneapolis, MN
55410, telephone (612) 922-6184, fax (612) 922-8732, e-mail
sond...@aol.com.
According to information compiled by the Greenberg Center at Johns Hopkins
Medical Center and by Lee Kitchens, database coordinator for LPA, the
frequency of occurrence of the most common types of dwarfism is as follows:
1. Achondroplasia (one per 14,000 births).
2. SED (one per 95,000 births).
3. Diastrophic dysplasia (one per 110,000 births).
These conditions are essentially untreatable, although some people with
achondroplasia have undergone painful (and controversial) limb-lengthening
surgery. LPA's position on limb-lengthening is that it is unnecessary
surgery with unknown long-term results, and that it is far more useful to
build a dwarf child's self-esteem.
Proportionate dwarfism -- that is, a short-stature condition that results in
the arms, legs, trunk, and head being the same size in relation to each
other as would be expected with an average-size person -- is often the
result of a hormonal deficiency, and may be treated medically.
Overall, there are more than 100 diagnosed types of dwarfism, and some that
have never been fully diagnosed.
Q: What is a midget?
A: In some circles, a midget is the term used for a proportionate dwarf.
However, the term has fallen into disfavor and is considered offensive by
most people of short stature. Such terms as dwarf, little person, LP, and
person of short stature are all acceptable, but most people would rather be
referred to by their name than by a label.
Q: What is the medical prognosis of a person with short stature?
A: It varies from condition to condition, and with the severity of that
condition in each individual. However, it's safe to say that the
overwhelming majority of LPs enjoy normal intelligence, normal life spans,
and reasonably good health. Orthopedic complications are not unusual in
people with disproportionate dwarfism such as achondroplasia and diastrophic
dysplasia, and sometimes surgery is required.
Q: Is dwarfism considered a disability?
A: Opinions vary within the dwarf community. Certainly a number of
short-statured people could be considered disabled as a result of
conditions, mainly orthopedic, related to their type of dwarfism. In
addition, access issues and problems exist even for healthy LPs. Consider,
for example, the simple fact that most achondroplastic adults cannot reach
an automated teller machine. Dwarfism is a recognized condition under the
Americans with Disabilities Act. The US Department of Justice now has its
own Web site devoted to explaining what the law entails.
Q: Do LPs find their portrayal in movies such as Snow White and the Seven
Dwarfs offensive?
A: No doubt some do. Many dwarfs, however, are proud of the role of dwarfs
in history and in legend, going back as far as the art of ancient Egypt and
Greece. What's important is that the average-size majority recognizes that
LPs are fully capable people entitled to respect and equality.
Q: Can average-size people become the parents of dwarf children?
A: Yes. In fact, that's by far the most common situation. LPA is deeply
concerned that as it becomes increasingly common to diagnose genetic
conditions in utero, including dwarfism, prospective parents will find it
difficult to obtain the data they need to make an informed decision as to
whether to continue with the pregnancy. Genetic testing carries with it
frightening implications for a whole range of issues, including a person's
right to obtain medical and other forms of insurance. LPA believes strongly
that prospective parents who become familiar with the full, productive lives
led by little people will not likely choose termination.
Q: Can short-statured couples become the parents of average-size children?
A: Yes. The odds vary with diagnosis, but a person with achondroplasia has
one dwarfism gene and one "average-size" gene at a particular location. If
both parents have achondroplasia, there is a 25 percent chance their child
will inherit the non-dwarfism gene from each parent and thus be
average-size. There's a 50 percent chance the child will inherit one
dwarfism gene and one non-dwarfism gene and thus have achondroplasia, just
like her or his parents. And there is a 25 percent chance the child will
inherit both dwarfism genes, a condition known a double-dominant syndrome,
and which invariably ends in death at birth or shortly thereafter.
The gene for achondroplasia was located and identified for the first time in
1994 by a team of scientists at the University of California in Irvine. The
lead scientist, the late John Wasmuth, urged that in-utero screening for
achondroplasia be prohibited except to detect double-dominant syndrome among
achondroplastic couples.
Q: What is LPA's position on the implications of these discoveries in
genetics?
A: The following is LPA's "Position Statement on Genetic Discoveries in
Dwarfism":
The short statured community and society in general have become increasingly
aware of eugenics movements (efforts to improve human qualities by selection
of certain traits) in medical history in the U.S. and abroad and the
traditional desire of parents to create perfect, healthy children. Along
with other persons affected by genetic disorders, we are not only concerned
as to how our health needs will be met under dramatically changing health
care systems, but how the use of genetic technologies will affect our
quality of life, medically, as well as socially. What will be the impact of
the identification of the genes causing dwarfism, not only on our personal
lives and our needs, but on how society views us as individuals?
The gene for achondroplasia, the most common type of dwarfism, was
discovered in 1994. Achondroplasia is caused by a gene mutation that is the
same in 98% of the cases. The mutation, affecting growth, especially in the
long bones, occurs early in fetal development in one out of every twenty
thousand births. Since the achondroplasia gene discovery, genes for many
other forms of dwarfism have been located and identified, including those
for spondylepispheleal dysplasia, diastrophic dwarfism and
pseudoachondroplasia. These discovers occurred much more rapidly than either
the members of Little People of America (LPA) or the medical community had
anticipated. Suddenly and unexpectedly, LPA was placed right in the middle
of the medical, social and ethical debate surrounding the brave new world of
genetic technology. At that time, formal discussions and education on
genetic issues had not yet begun within LPA. Most of us, like most of
society, had limited knowledge about the Human Genome Project and the social
and ethical implications associated with the possible applications of
genetic technology. On one hand, the breakthrough may be used to help
achondroplastic couples to identify a fetus with "double dominant" or
homozygous achondroplasia, a fatal condition that occurs in 25% of births to
those couples. It is also possible that the tests for genes causing short
stature will become part of the increasingly routine and controversial
genetic screening given to all expectant mothers.
LPA's discussion of these possibilities brought forth a strong emotional
reaction. Some members were excited about the developments that led to the
understanding of the cause of their conditions, along with the possibility
of not having to endure a pregnancy resulting in the infant's death. Others
reacted with fear that the knowledge from genetic tests such as these will
be used to terminate affected pregnancies and therefore take the opportunity
for life away from children such as ourselves and our children. The common
thread throughout the discussions was that we as short statured individuals
are productive members of society who must inform the world that, though we
face challenges, most of them are environmental (as with people with other
disabilities), and we value the opportunity to contribute a unique
perspective to the diversity of our society.
LPA is revitalizing its public education campaign, so that people of all
sizes, including potential parents and health care professionals, will be
properly informed of the realities of life with short stature. LPA is made
up of over five thousand individuals with more than a hundred types of
dwarfism, their families, a medical advisory board, and other friends and
professionals. We are teachers, artists, lawyers, doctors, accountants,
welders, plumbers, engineers and actors. We represent every nationality,
ethnic group, religion and sexual orientation. Many of us have secondary
disabilities as well. We are single and married, with families with spouses,
parents and children who are average size and dwarfed, biological, and
adopted. For LPA members there is a common feeling of self-acceptance,
pride, community and culture. Since 1957, LPA has provided peer support,
social and educational opportunities to thousands of individuals with
dwarfism and their families. We have been educating society and the medical
community about the truths of life with short stature and working to dispel
commonly held myths. With the discovery of various genes and mutations
causing dwarfism, our educational and advocacy efforts have become ever more
important, in the face of a rapidly changing genetic frontier.
Q: We're the parents of a newborn child who's been diagnosed with
achondroplasia, and our pediatrician doesn't know anything about it. What
should we do?
A: Make sure she sees "Health Supervision for Children with Achondroplasia,"
an article by the Committee on Genetics of the American Academy of
Pediatrics, which appeared in the March 1995 issue of the journal
Pediatrics. It is an excellent overview to the issues involved in treating a
child with achondroplasia. You can find the article, as well as other
resources, on the Dwarfism Home Page. If you don't have access to the Web,
send me an e-mail, and I'll be happy to e-mail the article to you.
Q: We don't want our child to be treated differently from other children.
We've read articles in Time magazine, People, and elsewhere about a
miraculous operation to lengthen an achondroplastic dwarf's legs and arms.
Should we consider this?
A: As a general statement of philosophy, most members of the dwarf community
believe that no child should undergo surgery unless it is for a treatable
medical condition that will improve her or his health. Limb-lengthening
surgery, by contrast, does not address any medical condition. Instead, it
permanently weakens healthy arms and legs simply so the person who is
operated on looks more like the average-sized majority.
Moreover, a person who's had her or his limbs lengthened still has
achondroplasia. She or he is just as likely to experience orthopedic
problems with age, and just as likely to pass on the gene -- and now may
suffer from long-term side effects of the surgery as well. Dwarfism is a
genetic difference, not a disease, and many dwarfs are proud of not being
like everyone else. Oftentimes a 14-year-old child who, because of teenage
insecurity and peer pressure, wants his limbs lengthened will mature into an
adult who is proud of who he is.
Limb-lengthening surgery involves cutting leg and arm bones, constructing
metal frames around the limbs, and inserting pins into the bones to move the
cut ends apart. New bone tissue fills in the gap, thus increasing length.
The procedure is extremely painful, and it often lasts several years. The
most common complications are:
* Bending or twisting of the bone at the site where it is cut.
* Nerve damage caused by the metal devices that are inserted into the
bones. This can result in paralysis of the limb.
* If the length is increased too much, the muscle and skin will be
stretched too tightly over the limb. This locks the limb out, either
straight or bent, and leaves the person unable to control the limb. The
only way to overcome this problem is to go back into surgery and
shorten the bone.
* Any time a major bone is broken or cut, there is a risk of releasing
fat emboli into the bloodstream, which can cause death.
Q: If limb-lengthening is such a terrible procedure, why would anyone go
through it?
A: There are some people who've been quite happy with the results. For
instance, we recently heard from a person with achondroplasia who thought
LPA's assessment of the surgery was too harsh. He told us that he went
through the procedure between 1988 and 1991, increasing his height from 3-11
to 5-1 and having his arms lengthened as well. Although he acknowledged that
it was a painful procedure, he hastened to add that it was not unbearable by
any means. He also believes his arms and legs are stronger than when he
began the procedure, that his back is straighter, and that, overall, he is
medically better off today than he was before the surgery.
With all due respect, it seems impossible that his arms and legs are
stronger as a result of the surgery. It's possible that they're stronger
because of the rehabilitation he underwent. But even advocates of the
surgery have acknowledged that there may be long-term weakening of the limbs
and an increased risk of arthritis.
There is one known medical benefit to limb-lengthening: the patient's back
comes into better alignment, and swayback is reduced, which can result in
fewer lower-back problems over the long term.
What follows is the LPA Medical Advisory Board's position paper on this
issue:
The techniques for leg lengthening were originally developed for correction
of limb length discrepancy and are considered the accepted therapy.
Particularly in Europe and Russia, similar surgical techniques have been
modified for use in symmetric lengthening in short individuals. Though this
new application has generated widespread interest, it has also created
controversy among medical professionals, persons of short stature, and their
families.
There are no established medical indications for symmetric extended limb
lengthening (ELL) at this time. However, it may have benefit in preventing
orthopedic and neurological complications of the skeletal dysplasias while
the function is primarily being performed for adaptive, cosmetic, and
psychosocial reasons.
Nationwide research is being done on the safety and long-term functional
outcome of the procedure. Experimental protocols to assess benefits and
risks of ELL are being carefully drawn. The Medical Advisory Board would
welcome the opportunity to review additional protocols, to assure that
projects meet the standards of modern scientific research, and to protect
persons from undue risk.
The complications of ELL are numerous. These include:
* Nerve injury
* Vascular injury
* Infections
* Angulations
* Non-union
* Paralysis
* Increased hip flexion leading to dislocation of the hip
* Predisposition to early osteoarthritis
* Reabsorption of the bone ends
* Fractures
* Unequal limb lengths
Although the acute complication rate associated with ELL has been reduced,
it is still substantial. Furthermore, the long-term stability of limb
lengthening has not been determined, particularly subject to physical (such
as pregnancy) and hormonal stress.
At this point we consider the use of ELL to increase stature to be
experimental. We caution individuals and their families who choose this
procedure to select as the site an institution with a multidisciplinary
program with special emphasis and expertise in skeletal dysplasia. The
institution should be equipped to follow the patient for a decade or more.
This is what patients should have prior to initiation of ELL:
* Confirmation of short-stature diagnosis. Relative risks and benefits
are different for the many types of skeletal dysplasias.
* Counseling concerning the natural history and genetic implications of
the relevant skeletal dysplasia, independent of ELL.
* Adequate discussion of benefits and risks (including medical
complications, fiscal issues, educational and psychological concerns).
It is recommended that prospective patients be of an age to participate
fully in the decision-making process.
We recommend that before, during, and after that all subsequent ELL
evaluations include:
* Orthopedic assessment
* Physical-therapy assessment, including evaluation of mobility,
activity, functional limitations, etc.
* Clinical neurological evaluations
* Electrophysiologic testing, including nerve-conduction velocities, and
electromyography- and somatosensory-evoked potentials
* Peripheral vascular assessment
* Psychological evaluation, including self-image, body image, peer
relationship, and familiy relationships.
All these evaluations will require cooperative involvement of orthopedists,
physical and occupational therapists, medical geneticists, radiologists,
neurologists, clinical electrophysiologists, peripheral vascular
specialists, psychologists and/or psychiatrists, and social workers in
longitudinal management.
As a group, what we are trying to impart is that ELL is a complex procedure
with far-reaching implications. Complete success is not guaranteed. We
caution prospective patients and their families to seek out only
institutions that can offer the broad, multidisciplinary approach that is
needed. An institution ill-equipped to handle the multiple demands of this
procedure should not even be considered.
We are certainly not trying to discourage anyone of short stature from
exploring extended limb lengthening. That is not our purpose. Our purpose is
to call for a careful assessment of institution and personnel, as well as
all risks and benefits.