Fibular Hemimelia

After hearing the news, there wasn't a time I could talk about the topic without crying. Joseph and I frequently laid awake in bed talking about our darling daughter's future. We had so many questions but we just had to be patient and wait for our future doctor appointments. We were referred to Maternal Fetal Medicine, who specialized in pregnancies with prospect of birthing defects. We met with an amazing doctor and had more sonograms and afterward we met with a genetic counselor.

Our sweet genetic counselor took a history of any and every illness present in both of our families. We had a wide range of cancer, cystic fibrosis, heart disease, etc. She also took note of any still born births, miscarriages, or infertility history within our families. After everything was said and done, she offered us a very expensive genetic test where she would test both me and Joseph on a deeper chromosomal level. The test could explain if one or both of us were genetic carriers for this birth defect or if it was simply a mutation from the fetus developing. 

We thought about it long and hard. We weighed the pros and cons of having this test done. Meanwhile, I searched anything and everything I could find on the internet, knowing full well, I could either find great comfort or more grief. Luckily for me, it was hard to find exactly what I was looking for. I think it was a way of the universe saying that I needed to have more patience.

Children born without fibulas is a condition known as Fibular Hemimelia. It's defined as a "birth defect where part or all of the fibular bone is missing and there are associated limb discrepancies, foot deformities, and knee ligament problems. It occurs in only 1 in 40,000 births. Bilateral fibular hemimelia (affecting both legs, like our sweet Eleanor) is even rarer."

My biggest question: What will her future look like? Will she need a wheelchair? I searched blogs, Youtube videos, hashtags, anything and everything I could get my hands on so I could prepare for her future. I found everything from amputation to limb lengthening . When I read the word amputation, my heart sunk. I couldn't bare to have my child's legs amputated. Later, I stumbled across a video on Youtube of a 19 year old girl from New York who has Bilateral Fibular Hemimelia. It was a super short video of her story. She said her doctors recommended amputation and her father disagreed. They found another alternative so she could keep both her legs. I have no idea what the alternative was, all I knew was that there was hope for my baby, just like this girl. There's no way I could let my baby's legs be taken.

My doctor recommended more tests so we could further understand Eleanor's condition. We had an amniocentesis scheduled. My mother had one when she was pregnant with one of older sisters, so she was able to help me somewhat prepare for it. They took a big long needle and inserted it into my belly to retrieve amniotic fluid for testing. I remember laying on the chair holding onto Joseph's hand as the needle was inserted into my huge pregnant belly. I couldn't help but have silent tears escape from my eyes. As I laid on my back staring at a horribly blank ceiling, two tiny streamlines ran from my eyes to my earlobes, making salty puddles inside my ears. I tried discreetly wiping my ears. Joseph asked if I was in a lot of pain. No, it wasn't that bad. Uncomfortable yes, but not enough to make me cry. To be honest, I just couldn't help but stare at this dumb white ceiling wondering why I had to be here for this test. Why couldn't I just have a normal uncomplicated pregnancy? How many women go through this? Surely, there are women out there going through the exact same thing as me. Where are they? How can I connect with them? Another cycle of "woe is me" began to take over and I cried more because now my ears were soaking wet (stupid hormones).

Never have I received so much love and support from people all around me. So much kindness was shown toward my growing family, it truly brought comfort to my soul. I really think that with sorrow comes support. I believe it's natural for humans to want to help each other. I got pretty good at pushing some people away and not answering phone calls or texts. Eventually I gave up and started letting people help me, comfort me, and show sympathy for me. There's no greater comfort and relief than knowing you're not alone.

Eventually I was able to find my Fibular Hemimelia support group. It was like the heavens opened and I was able to have personal intimate conversations with women across the country, even across the world about their journey, just like mine.

And somehow by some miracle, months down the road, I made a 180 degree change and the idea of amputation didn't seem so scary or bad.

Finding Out

It was July 25^th, 2015 when I came home to take a pregnancy test and I learned we would be adding a sweet angel to our family! We scheduled a doctor appointment to make sure everything was ship shape; thereafter we would let our family know for sure of our wonderful news! Our doctor told us our little darling would come January 19, 2016. He told us I was far enough along that he was about 80% sure it would be a little girl! A little girl! A tiny human to dress like me, put bows on, put in dance class or cheerleading and love forever! I couldn’t be happier. We had an ultrasound scheduled at 20 weeks, on Sept 15^th, to know the gender for certainty.

After what seemed like eternity, September 15, 2015 finally came! We were so eager to find out the gender and this day couldn’t come fast enough. We were beyond excited!  I remember it in detail: It was a Tuesday. I was teaching dance in the morning until noon then I had a gap until about 4:30pm before I had to go back and teach a couple of night classes. Our appointment was scheduled in between my gap so I would have time to drive to the hospital and back and still be on time to my class. My sweet husband, Joseph, met me at the hospital. The ultrasound went like any ultrasound (I’m assuming). The tech listened for a heartbeat, measured the head, the arms, legs, torso. She told us we were indeed having a girl! A GIRL. Sweet music to my ears.

We made silly jokes about baby’s movements. Joseph held my hand and we smiled at each other. We laughed out of joy and watched very carefully as the tech kept measuring and writing things down. She kept going back and forth over my belly, back and forth, back and forth. After a while, I thought 'these ultrasounds sure take forever…' I had never had one before, so I wasn’t quite sure what to compare it to. Then, I noticed that our sweet tech wasn’t talking much. It was almost as if I had to pry information out of her to see exactly what else she was looking at and what the pictures were. I had so many questions of what exactly she was looking at, but I wanted to let her do her job without interrupting her. The mood was kind of quiet. I had been lying on the bed for a quite a while but didn’t care because I was happy! How amazing was it to look at my sweet unborn child! I felt so blessed.

Finally.  She stopped going back and forth on my belly. She told me to go empty my bladder then to come back.  Sounds good to me! I hopped off the bed and to the bathroom I went.  Maybe she couldn’t quite see baby girl. Maybe my sweetie was in a strange position so the tech couldn’t get the measurements she needed.  I came back as fast as I could and sat on the bed with a big smile on my face.  The tech wasn’t there.  Joseph said she was on the phone.  Well that’s fine.  I'll just wait patiently.

She asked me to lift up my shirt one more time. She put the gel on again and began going back and forth, back and forth. She began talking to us. She showed us the head, the spine, the arms, the fingers, the upper body. She moved down to the lower body. Joseph and I were still holding hands with a smile on our faces. She showed us the legs. She told us there are two bones in the lower legs, the tibia and fibula. She told us the tibias are measuring very short and there doesn’t seem to be any fibulas present. She showed us the right foot then she said that there doesn’t seem to be a left foot present.

My smile vanished. In that very moment, time had stopped. You know that part in a movie where time stops and people are talking but you can’t hear them. Everything around you seems to be going in slow motion. That’s what this moment felt like. It felt like a dream. I just lay there blinking my eyes staring at the monitor but not seeing anything.

I don’t understand.

What do you mean she’s missing a foot.

Where is it?

Why are the tibias short? Where are the fibulas? Maybe the tibias will eventually catch up, but why doesn’t she have a foot. I don’t understand. I didn’t say much of anything. My eyes became wet and tears were silently dripping down my face. The tech quietly gave me a tissue. Joseph began talking to her and asking questions. She told us that she didn’t have any answers to our questions. She said she was on the phone with my OB/GYN and he wanted to see us immediately. We tried to arrange our work schedules so we could see my doctor tomorrow afternoon.

We left the office and walked down to the parking lot and sat in Joseph’s car, and I completely lost it. I started crying so hard, I couldn’t talk and I felt like I couldn’t breathe. Joseph told me some comforting words and I realized how truly lucky and blessed I am to have him in my life.

How was I supposed to tell my family that we were having little baby girl with a missing foot? With missing fibulas?  With deformed tibias? I had planned to do a super cute gender reveal but none of that mattered anymore.

Joseph and I talked in the car for a long time. Eventually I had to get back to reality so I got out of his car and into mine, then I drove home 20 minutes, crying the whole way.

After coming home, I changed and got my things ready to go teach my hip hop classes. It was a solid 30 minute drive to my class so I called my mom, but no answer. I called my sister, but no answer. They were both working but I had hoped that by some miracle, they would answer. After teaching both my hip hop classes I drove home and my sister called me back. She asked how everything went at the doctor and I told her everything and I started to ugly cry once more and she cried with me.

There was nothing I needed more than to have someone just cry with me. I didn’t understand why this had to happen in my life. In fact to this day I’m still not exactly sure. I know my sweet darling will teach me something very important. The more she grows, the more I will learn from her. I believe in the power of the Atonement. I believe that everything will eventually be made fair, right and just. One day Eleanor’s little legs and feet will be perfect because of something beautiful called the Resurrection. Even though I probably grieved longer than I should I have, toward the end of my pregnancy, I felt relief and peace about my sweet daughter. She is the most beautiful baby I’ve ever seen. She makes me want to be a better person. She makes me want to work harder, love harder, and give more.

I was blessed with an amazing pregnancy. I had no complications, and I hardly ever felt sick. I think God blessed me with physical health so that I could work on my emotional state of mind. We had countless doctors visits with Maternal Fetal Medicine, OB/GYN, Geneticists, and our pediatrician. We had so many questions that needed answers. We had several tests done to see if we could have any of those answers. How was this going to affect her neurologically? Will it just be physical or should we prepare for more? Will the rest of my future children have the same physical disabilities? Can she walk? Will she be in a wheelchair her whole life? Will she need prosthetics?

Luckily,

we eventually had answers to all those questions.