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.
Q: We've heard that very young achondroplastic children can run into a variety of complications. What should we be looking for?
A: Essentially there are three complications that are sometimes found in achondroplastic infants and toddlers. In all likelihood your child will not run into any of these problems, but she or he should be evaluated for them nevertheless.
Compression of the brain stem resulting from the top of the spinal column, known as the foramen magnum, being too small to accommodate the spinal cord. Symptoms include central apnea (a condition that causes a person to stop breathing frequently while sleeping) and a general failure to thrive. This condition is treated through surgery, and children who have undergone this operation tend to do very well.
Hydrocephalus, the technical term for excess fluid on the brain, resulting from the drainage openings in the skull being of insufficient size. All people with achondroplasia have some hydrocephalus, and no harm generally results. In addition, all people with achondroplasia have slightly enlarged heads, which can sometimes create the appearance of a problem where there is none. Nevertheless, occasionally hydrocephalus can present a problem, in which case a shunt may be surgically implanted to drain excess fluid.
Obstructive apnea resulting from an infant's or very young child's airways being too small or improperly shaped. The child stops breathing and wakes up frequently during the night (unfortunately, as is generally the case with apnea, these moments of wakefulness are fleeting and often go undetected by parents), sweats, snores, and fails to thrive. Depending on the severity, a physician may recommend waiting until the child outgrows the problem; monitoring the child's oxygen levels and trying treatments such as supplemental oxygen and/or CPAP (or BPAP), a treatment device that provides pressure to the lungs; or, in rare instances, performing a tracheostomy to circumvent the tiny upper airways until those airways have a chance to grow.
Q: My dwarf child will soon undergo surgery. What special considerations regarding anesthesia should be taken into account?
A: In general, the anesthesiologist needs to be careful not to hyperextend your child's neck as much as she or he might with a non-dwarf child. Also, dosage should be regulated by your child's weight rather than age.
Q: We don't want our child to be treated differently from other children. We've heard 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, although certainly there are dwarfs who have undergone the procedure and are quite happy with the results.
Q: Is it possible to adopt children with dwarfism?
A: Yes. Children are available both in the United States and abroad. There are no shortcuts, however. Adopting a dwarf child is every bit as challenging and arduous a process as adopting an average-stature child.