Our amazing journey began as my husband and I found out we were pregnant with our first baby in August 2010 after almost a year of trying. My pregnancy went along great minus the typical morning sickness, which was definitely unpleasant. Things seemed to go by so slow as we were waiting for our Level 2 ultrasound that would provide more than just the due date of the first scan. During the level 2 ultrasound, the physicians’ check the baby’s heart and other things to make sure all is looking well and the baby is growing as he or she should.
My husband and I went into our ultrasound appointment very excited, especially to determine the baby’s sex, which was really the only thing on our mind. Our appointment was scheduled the day before Thanksgiving so we had it all planned out how to tell the rest of our family about the baby’s sex. My sister-in-law was going to bake a cake that would be pink or blue inside at Thanksgiving Dinner to let the family know if we would be having a boy or girl.
So, as the ultrasound progressed, we sat like two naïve parents thinking everything would be perfect since the only thing that mattered was whether or not we were having a boy or girl. We were laughing and joking as we looked at the photos on the machine. Despite my medical background most of the pictures looked like just a bunch of static on a screen. The ultrasound tech told us that God had blessed us with a new baby girl and we were so excited! As the technician completed the scan, she left the room and instructed to wait a few moments for the doctor to wrap things up. As time slowly passed we again joked and wondered if they had forgotten about us.
After a long wait, the next person through the door was Dr Carlan, an OB who I knew a little from a rotation during my residency at the same hospital. Dr Carlan calmly entered, introduced himself, and said “There is something wrong with your baby girl.” I couldn’t listen or comprehend anything else after those words: I lost it! Fortunately, my husband was there and we managed to hear a little if what Dr Carlan was saying.
Basically, she was missing a fibula in the lower part of her left leg. He said sometimes things like this can just happen and repeatedly remarked that it was isolated and unrelated to anything else. Looking back I am not even sure if he said Fibula Hemomilia or if that was something we learned later. Fortunately, Dr Carlan immediately arranged for us to meet with a geneticist following the ultrasound. They asked us both a lot of strange questions and essentially advised that, based on an otherwise normal ultrasound, it appeared as if her case was an isolated event not associated with any type of syndrome. At that moment, none of the other long bones appeared to be affected, most importantly, the left femur was equal in length to the right side.
Obviously, this was devastating news, and I preface this by stating we were fortunate to face an isolated orthopedic problem as it certainly could have been much worse like a heart, brain, or another key organ requiring far more medical interventions and potential complications. However, no parent wants to hear that there is anything wrong with their precious unborn baby.
As we sat in the hospital between the ultrasound and geneticist appointment trying to take everything in, I, of course, telephoned my mom. I don’t think either one of us will ever forget the conversation that ensued. It was the point where I had to say it out loud and therefore it meant our baby’s diagnosis was real, although it still took me quite a while before finding complete acceptance. I told my mom before she could speak, “Mom, I need to tell you something but you can’t say anything or I am going to cry. Something is wrong with the baby. She is missing her fibula.” I couldn’t even get the words out before breaking down once again in tears.
After we left Winnie Palmer Hospital, we met up with my parents for lunch as we had planned previously to celebrate the sex of the baby. My parents had already started their research as my mother stumbled upon an online blog of a mother whose daughter had FH, called JourneyMama. It was here where we first came across the names of Dr Paley, Standard, and Herzenberg in Baltimore along with other Orthopedic surgeons throughout the nation.
Later that day I discussed my daughter’s case with a pediatric orthopedic at Arnold Palmer, Dr Albright. He gave me reassurance that everything would be okay and said that there is a wide spectrum with this disorder and that we wouldn’t know anything for sure until she was born. He gave me examples of kids that were playing soccer and running around just like all the other kids their age, but, of course, he did inform me that extreme cases usually require amputation.
Needless to say, Thanksgiving was not that great and it was very difficult for my husband and I for some time. At first we really didn’t conduct much of our own research as we were just trying to come to terms with everything and praying that all of this was just a fluke and not a reality. Unfortunately, after multiple ultrasounds, there was no doubting that she was missing her fibula thus making the Fibular Hemimelia diagnosis a painful reality.
As my pregnancy progressed we conducted more research and held in-depth discussions with other physicians learning that it is an uncommon condition with a long spectrum of possible severities. Once I became somewhat comfortable bringing a small network of people up to speed, all of the doctors I spoke with had never heard about it including our pediatrician and OB plus all of the other physicians in the practice. Minus a select number of orthopedic specialists, no one had ever heard of this. At least now I knew that there was not an important lecture during my training that I had slept through nor was I alone. Although it is one of the most common limb length discrepancies, FH is still pretty rare which made it difficult to learn about it.
I conducted a lot of medical research as my husband and parents scoured the Internet for blogs and other more personal stories of families that were going through the same situation. We reached out to a few orthopedic specialists in the Orlando area and learned through our discussions that basically all you we could do was wait until she was born to determine the severity. We would not know anything until we saw her, despite the hundreds of official and unofficial ultrasound pictures we had accumulated. So, that is exactly what we did: we waited. The remainder of my pregnancy went flawlessly as we prepared the baby room and very slowly came to terms with everything we were presented with, yet still praying and hoping everyday that the baby would be healthy.