Each year, thousands of children are born with birth defects commonly associated with genetic disorders. For many, the absence in the development of a limb may be well anticipated during the gestational period, providing parents with an opportunity to seek out early treatment options for the child afflicted with the complication.
One such limb complication associated with birth is a rare genetic defect known as Amelia. Known as the total loss of a limb, amelia can be classified in terms of the number of limbs affected but always reflects the total absence of a limb in contrast to a partial loss of a limb known as meromelia.
So, how does amelia develop? During the gestational period, at about three to five weeks, there is an important development and formation of limbs. When interrupted or disturbed, this formation may not occur. Quite commonly, this same genetic defect that attributes to amelia is most likely also related to another key defect during this time of the gestational period; that involving the cleft lip, cleft palate and even skull formation and neural tube defects.
In the majority of amelia cases, the cause and origin can be traced to a recessive gene defect but, this is not always the case. In a few cases, amelia may be attributed to the early stages of health complications during pregnancy, including infection, failed abortion or even the complications associated with removal of an IUD after pregnancy.
In addition, amelia has also been traced to the complications associated with use of thalidomide in pregnancy. As a drug used to treat extreme morning sickness and nausea, thalidomide was believed to be responsible for a plethora of birth defects, mostly involving limbs, in the mid part of the 20th century. As a result of these findings, thalidomide was removed from the market but then later re-introduced for use in patients who suffer from arthritis, cancer and infection but never for use by pregnant women. Even still, women who suffer from these pre-existing conditions, and use thalidomide, may suffer complications if pregnancy becomes an issue to be addressed.
While amelia is rare, most healthcare professionals agree the cases of amelia, when not in the presence of drug use, infection or trauma, is most likely attributed to the complications of a genetic defect. For this reason, seeking early prenatal testing is important to becoming well prepared for the potential complications and risks. Such prenatal testing may include alpha fetoprotein testing and amniocentesis.
When positively diagnosed as having amelia during gestation, this early indication will allow the expectant mother to prepare for the anticipated neonatal care that will be required upon the infant’s birth. Because amelia is associated with other health complications, meeting with your baby’s pediatrician, before birth, with provide a general plan in the ways in which to address the needs of your baby in the hours, weeks and months after birth. In fact, many expectant mothers, upon learning of amelia during pregnancy, will begin to research prosthetic devices in preparation for the costs and care required by the infant to ensure proper growth and development.
As with any genetic disorder, the key to your child’s optimal health lies in the early detection, diagnosis and care. When learning of the risk your child will have of being born with a complication such as amelia, consider meeting with the pediatrician early to discuss treatment options, including the anticipated costs of healthcare and prosthetic device purchases.
