Prior to our little boy being diagnosed with a lower limb abnormality, we knew of not a soul who had gone through a similar experience. Our experience with little kids with prosthetics was the occasional “make you cry” youtube video or inspirational story on Dateline. Once we found out we were expecting a little boy with this abnormality and we had grieved and healed enough from the grief journey, we began scouring the internet (where else do people turn these days?) for information about a possible diagnosis.
We found Fibular Hemimelia pretty early on in our search. We hope our findings, research and experience will benefit someone else as they struggle through this diagnosis. Please reach out to us if you have any questions about our experience.
What is Fibular Hemimelia?
Officially called, Longitudinal Fibular Deficiency, Fibular Hemimelia is essentially the total or partial absence of the fibula bone. 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.
Wheeless’ Textbook of Orthopaedics describes it as the most frequent lower limb abnormality, most often unilateral, commonly with “complete terminal deficiency” missing all toes or affecting the lateral rays of the foot, as seen with our little guys feet. He has both no toes on the right except for a bit of tissue coming off the ‘nub’ and 3 toes (including a big toe) on his left foot. This diagnosis affects males twice as often as females.
Fibular hemimelia is usually not an inheritable condition. The vast majority of children born with this condition have no family history of other birth defects.
What Causes it?
Beats me. I asked Dr. Kasser why it happened and he looked at me and said, “why is the sky blue?” It seems like it just happens…a vascular accident somewhere between 4 and 7 weeks pregnant when those sweet lower limb buds are developing. I am a clinical dietitian, fit and healthy. I buy organic vegetables, avoid GMOs, get enough sleep and have only ever been happily married to the sweetest man. I took my prenatal vitamins prior to getting pregnant although fully convinced you should be able to get those necessary vitamins/minerals from the good food you eat. I am young and was very ready to be a momma. Fibular Hemimelia affects 1 out of 40,000 live births…the total number of births in the US in 2012 was 3,952,841 which means there are about 98 babies born with this diagnosis yearly.
I have found comfort reading other people’s stories with Fibular Hemimelia. A great blog is: http://lisaelaine4.blogspot.com/p/fibular-hemimelia.html This blog has a wonderful page of resources we have found very helpful in our journey with our little guy’s diagnosis.