Jenna Cohen was 20 weeks pregnant when a scan revealed a significant developmental abnormality in her future child: the absence of the fibula. The fibula, or calf bone, is found on the lateral side of the tibia, in the lower leg, with these two bones being the primary long bones of this portion of the limb. Receiving this sort of news came as a complete shock:
“It was sort of like an out-of-body experience…the feeling of heat rising, and my ears were ringing really, really loudly. It wasn’t a good response from the doctor. I was told that I should terminate the pregnancy.” – Jenna
Jenna opted to continue her pregnancy despite the doctor’s suggestions. It was a challenging pregnancy, however, with Jenna being relegated to bedrest just a few weeks later as a result of other complications. Until Angelo’s birth, Jenna’s focus was primarily on getting through the pregnancy safely, both for her child, and for herself.
The abnormality of a missing or greatly reduced fibula bone is known as fibular hemimelia. The first thing Jenna did, on the suggestion of a friend, was to search for support groups on Facebook:
“If she didn’t say that to me, I don’t think that I would have ever thought to do it…but holy guacamole, the amount of groups that came up! It was such a sigh of relief for me because I finally felt like I wasn’t alone.”
Seeing the experiences of other families and parents gave Jenna some much needed perspective that talking with physicians didn’t; it allowed her to imagine a future for her son that, while perhaps different from an average kid, could still be happy and healthy. She was also able to find a doctor for Angelo that was an expert in the condition, and on the first visit, they were able to come up with a treatment plan for him.
In Angelo’s case, physicians projected that one leg would be six inches shorter than the other at full potential growth without treatment. He underwent surgery on his ankle (which was facing the wrong direction) and had his first leg-lengthening procedure at 22 months. These procedures will occur at varying points as Angelo grows, with future treatments scheduled for around his fifth birthday and another in his early teens.
“He did not walk until he was around 15 months old. He wore a AFO brace for 6 months before his first surgery.”
Angelo also wore a shoe lift to compensate for the difference between the length of his legs. Once the right leg was lengthened, he no longer needed the shoe lift because his legs were even. As he continues to grow over time, his right leg will become shorter, and a shoe lift will be needed once again. While he was initially restricted from running and jumping, he’s now more or less as mobile as other kids. However, his legs continue to grow at different rates, which is why he will need future procedures.
“If you’re given a diagnosis during pregnancy…enjoy the pregnancy, because there’s no point in worrying. You will deal with everything in due time.
When I met Angelo’s doctors for the first time, I just wanted to hug them because to be told that’s something is wrong with your child, to be told to terminate the pregnancy…and then meeting them and them telling you that everything is going to be fine, and we have proof. Just do your homework and take the time to research doctors, seek second and third opinions.”
Jenna also noted that if she weren’t directly affected, she would have no awareness that fibular hemimelia, or other similar conditions, even existed.
About Fibular Hemimelia
Fibular hemimelia, also called longitudinal fibular deficiency, is a birth defect characterized by absence or significant reduction of the fibula, one of the long bones of the lower leg. The cause of the condition is poorly understood, though some evidence suggests a genetic basis for fibular hemimelia. However, there are many cases with no clear genetic cause. Symptoms include delayed and difficulty walking, legs of different lengths, ankle malformations, fused and missing toes, and low growth in the affected leg. In most cases, just one leg is affected. Males are more likely to be affected. Treatment may include replacement with a prosthetic leg, use of various supportive devices, leg-lengthening surgery, and osteotomy. To learn more about fibular hemimelia, click here.