CHAPTER 30
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The Child with a Limb Deficiency
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mechanisms by which this disruption may occur. For more
details, the reader is referred to an excellent review article (18).
Teratogens are an uncommon cause of limb deficiencies.
Although typically thought of as medications, there are sev-
eral other categories of teratogens during pregnancy, including
maternal illnesses, medical diagnostic procedures, or trauma.
To establish if a particular exposing agent is a teratogen, it
should exhibit a dose–response relationship with the defect in
question, and it should exhibit a period of greatest sensitiv-
ity. Thalidomide, an antinausea medication used in pregnant
women in the 1950s and more recently as a chemotherapy
agent, caused typical limb deficiencies during a narrow win-
dow maternal exposure (between 40 and 44 days postcon-
ception). It remains one of the most well-defined teratogenic
agents causing limb deficiency. Other drugs are known to affect
limb morphogenesis, such as warfarin, phenytoin, and valproic
acid. Phenytoin and misoprostol have been shown to affect the
vascularity of a previously normally developed fetal limb (19).
Retinoic acid and its related metabolites have an effect on limb
bud development and cause a wide range of limb malforma-
tions in experimental models, which are described in an excel-
lent review article (16).
Almost all of the potential causes of limb deficiency previ-
ously described can and do affect other organ systems, often in
recognizable patterns. This is an important fact for the treating
physician, who should perform a thorough examination for
other abnormalities and any heritable genetic defect should be
identified. A knowledge of syndromes with limb deficiencies
will help the physician look for associated abnormalities and
enlist the help of other relevant medical subspecialists when
appropriate.
PSYCHOSOCIAL ASPECTS IN LIMB
DEFICIENCY PATIENTS
The Parents.
When a child with a congenital deformity
or congenital amputation first presents, it is the parents who
will need the most attention. Although surgical treatment of
the child’s deficiency is not urgent, the parent’s emotions and
expectations of treatment understandably take on an urgent
tone. Unless prenatal ultrasound detected the deficiency, their
child’s situation is unexpected and begins a grief cycle not
unlike that described by the Swiss physician, Elisabeth Kubler-
Ross (20). It is this dynamic that the physician, who is likely
meeting the family for the first time, must negotiate. In gen-
eral, the physician’s responsibility over the next several months
is both to suggest treatment according to the best medical stan-
dards and to guide the parents through the grief cycle.
Parents will initially feel shock and helplessness, which can
manifest as feelings of guilt. What did I take or do during my
pregnancy to cause this? In many families, there will be a strong
desire to know “why this happened.” It is a time of anticipated
joy that has turned into a period of great stress for both the
individuals and, often, the marriage. The initial patient visit is
important in establishing a positive doctor–patient relationship
by active listening first, then explaining in clear terms the nature
of their child’s deficit. Obtaining a genetic consultation, even
when the deficiency is not known to be hereditary or caused by
teratogens, can be therapeutic in this regard, giving the parents
additional reassurance.
After the initial shock, parents will have many questions
about their child’s future. The parents probably have never
known a child or an adult with an amputation and have no
frame of reference to answer these questions. Although the
physician can give lengthy answers to these questions, it is
important not to give them too much information all at once.
The best one can do during the first visit of the parents is to
gain their confidence and give them realistic hope. Fortunately,
there are usually no emergent decisions to be made, and
there is time to help the parents answer these questions for
themselves.
During this initial period, physicians need to be careful
about what they tell the parents. In an effort to help the par-
ents feel better, physicians can be tempted to offer false hope
and mention treatments that are totally unrealistic. Physicians
who do not know, or who do not wish to take on this role,
should assure the parents that they are referring them to the
best possible care rather than tell them not to worry and that
medical science has amazing cures today.
Parents will often refuse a recommendation such as an
amputation (21). It is important for the treating physician to
recognize the factors that affect their decision and to do his
or her best to educate the parents. From the parents’ point of
view, their child may have a near-normal-appearing foot and a
limb that is only slightly shorter than the normal one. Likely,
their child will have little difficulty walking, and the par-
ents may not understand the progressive shortening that will
develop with time. Along with these observations, they share
the popular public belief that modern science can cure every-
thing—next year, if not now. They have all heard of miraculous
lengthening of limbs in the popular press, and more recently,
the “successful” transfer of limbs. It can be difficult to align the
parents’ expectations with reality.
After the initial visit, the next several months are a good
time for the parents to meet children with similar deficiencies
and to see what their child might actually be like in the future.
The literature demonstrates that although parents benefit from
the support of friends and health professionals, they do not
receive the level of support they need (22). This support is
found by contact with other parents whose children have simi-
lar disabilities. Meeting families and children in a similar situ-
ation is comforting, makes the future seem more manageable,
and is one of the most important parts of treatment for these
children. In addition, the parents can see the various surgical
options that might be recommended for their child. It can help
them form realistic treatment expectations by seeing what is
possible rather than reading and hearing second-hand from
other sources, such as the lay press, Internet, or well-meaning
friends. Because there is no need for intervention in the con-
genital deficiency for a few months to years, the parents have
time to learn about their child’s problem.
