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Fibular Hemimelia

Diagnosis, Treatment and Support

By Jacqueline Bodnar

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As a mom, the first thing you are likely to do when they tell you that your baby has a condition like this is to wonder if it's your fault. Was there something you did or didn't do during your pregnancy or before it that could be responsible for this? While this response may be predictable, it's certainly not warranted.

Most cases of fibular hemimelia occur for no known reason. Some cases have possible causes that can include inheritance, certain medications like insulin or a traumatic event during the earliest weeks of gestation. Regardless of the reason for the condition, the important thing is to focus all efforts on figuring out where to go from there.

After the Diagnosis

Getting such a diagnosis sends some people running to the nearest library or computer to do as much research as they can. Others decide just the opposite, as was the case for the Schroeder family of California, who got the news when an ultrasound was done on the womb.

"We knew her femur was short," says Tim Schroeder. "But we didn't know what that would mean. We left it at that and made a conscious choice not to do research, because that can be quite upsetting to expectant parents."

When his daughter was born, she had four toes and was born without the fibula. They knew at that point that they would need to investigate their options. They soon learned that there are two choices in such a condition: amputation or lengthening. Going the route of amputation, such a surgery would need to be done at around a year old, after which his daughter would receive a prosthesis. Taking the lengthening route would mean that somewhere between the ages 2 and 4, their daughter would need to undergo surgery and use an external fixator.


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