Fibular Hemimelia

Our perfect little girl...
Joelle has now been officially diagnosed with fibular hemimelia. A little tidbit of info about her condition. Joelle has her right leg affected. Her leg is shorter than the other and is missing the fibula completely. She is missing her ankle which is part of the fibula. The discrepancy at our first visit to BC Children's Hospital we were told it is approx 2 centimeters shorter than the other leg right now.
Our visit to the Children's Hospital was not how we expected it. We were rather disappointed with the visit because we left with so many questions we had written down with no chance to talk to anyone about it. We felt very rushed with the visit with the doctor we seen. I'm not sure if when we go back it will be a better visit for us as parents and not just a number to been seen quickly. End of May Joelle goes back to see 2 doctors this time and be fitted for a brace (that's what the doctor called it). I don't know what the brace looks like or how it will fit on but we will find out end of May after her ultrasound is done. Two visits this month for her.

Fibular Hemimelia explained

Fibular Hemimelia is a partial or total absence of the fibular and is the most common form of lower limb deficiency present at birth. There are two long bones in the lower leg, the thicker one is called the tibia and the thinner one is the fibula. With Fibular Hemimelia the tibia is shorter than normal and the fibula is missing or underdeveloped. A leg affected by Fibular Hemimelia will look shorter than an unaffected leg. The tibia may be bent and the foot may also be smaller than normal, bent outwards at the ankle and may have fewer than five toes. The knee is often also misshapen and may move abnormally.

Usually only one leg is affected, with the right fibula affected more often than the left and males are 50% more likely to be affected than females.

Diagnosis and causes 

Severe cases are likely to be seen at scans during pregnancy. In milder cases it may at first be thought to be a foot deformity but when the shortening of the leg becomes more noticeable and the leg is X-rayed the full picture can be seen.  Most cases of Fibular hemimelia are thought to occur for no reason.

How can it be treated? 

Treatment will depend on the severity of the condition and how normal the foot is.

• If the foot is reasonably normal it may be possible to lengthen the leg using the Ilizarov apparatus
• If the foot is twisted outwards to the side it may be possible to correct it sufficiently using surgery
• If the foot is not sufficiently normally formed and the tibia is too short it may be best to amputate it through the ankle using procedures such as the Syme’s or Boyd amputation and fit a prosthesis. (an artificial limb)
• In cases where the fibula is present and the shortening is not severe the treatment is usually leg equalisation either by slowing growth of the other leg (epiphyseodesis) or leg lengthening.

Joelle's right foot x-ray. You can see she is missing a toe and her bones are quite out.

Getting the x-rays was a tad difficult. J moved around so much they had to use so much velcro and tape to keep her still. She screamed and didn't like it at all.

Deep breathe for me as a mom watching, but this is only the start.