by Lamelle Ryman
“Everything looks fine overall, but there’s something wrong with the baby’s leg.”
The ultrasound technician spoke quietly in the darkened exam room. Was it relief that I felt, at first? I knew something was wrong. This ultrasound was taking way too long.
Relief, if I really felt it, didn’t last long. Soon my husband and I were holding hands as a group of ultrasound techs and the head OB gathered around. They moved us to another room with a 3D machine. A chaotic cacophony ensued.
“There is a club foot on the right…the right tibia is shorter…there is no right fibula…the tibia is broken…the foot is clubbed…the other foot is clubbed…no, the other foot is fine…there are six toes…”
We were numb when we left the office, a tiny piece of paper folded in my husband’s shirt pocket. Late that night, at home, we unfolded it and learned that our baby was a girl. We had planned to be surprised at birth, but now we intuited that learning the sex of the baby would help us bond with her.
As we lay in bed that night, we listened to our baby girl’s heart with a fetoscope (fetal stethescope), a ritual we had adopted a few weeks earlier, as soon as the heartbeat could be detected without ultrasound technology.
I had an amnio in the morning. Earlier in my pregnancy, I’d read an article about a couple who had asked to hold a vial of amniotic fluid from their amnio, so I did the same. It was warm and clear. I felt calm, almost relaxed. I gazed at a life-size wall diagram of a 20-week-old fetus as a foot-long needle entered the sanctity of my womb. The amnio will give us the information we need to figure this out, I knew.
We went from the amnio to a series of meetings with geneticists. I don’t remember much of what was said, but I do remember the sickening dread gathering in the pit of my stomach. The expert in prenatal genetic diagnosis reeled off a list of potential syndromes associated with the absence of the fibula and explained that there would be no way to know whether the missing fibula was an isolated finding or a “partial manifestation” of a syndrome. Since it appeared that her tibia was broken, she might have brittle bone disease, a condition associated with life-long chronic pain. The amniotic fluid could be used to test for this disease but the culture wouldn’t be complete for over a month. Another genetic counselor asked us about our views on abortion. I was getting queasy.
“But what about the amnio? How soon will we get the full results?”
A few hours earlier, the promise of the amnio results had held the key. Since then, we’d learned that a rapid, preliminary version of the results (called FISH) would be available within a few days, but would have limited information. The full results wouldn’t be available for a couple weeks.
It was then that the geneticist made an analogy between chromosomes and books. “The chromosomes that we see from the amnio are like bound volumes on a shelf. We can see whether the spine of the book is damaged or torn, but we cannot see whether there is a page missing or a word or a letter deleted on page 263. Chromosomes are what’s printed on the spines of the book, and genes are the words inside.”
As he spoke, my earlier confidence that amniocentesis would tell us what we needed to know evaporated. The amnio would rule out conditions affecting entire chromosomes, such as Down Syndrome or Trisomy 18, but it wouldn’t give us any more information about the significance of our baby’s missing fibula. It began to dawn on me that the geneticists were presenting us with this information because they expected us to be weighing whether or not to continue our pregnancy. I was beyond distraught. We already made a decision to have a child – we’re not supposed to have to make this decision all over again!
I left the genetics office amazed at how much life can change in a few hours – as if I hadn’t already learned this very lesson the previous day. But we did have one measure of comfort: We had a diagnosis.
The geneticist told us that the absence of the fibula was a rare condition affecting 1 in 40,000 pregnancies called fibular hemimelia. When affecting only one leg, it was usually an isolated problem; when affecting both legs, there were a few cases in the literature of a genetic link.
Back at home, we hit the web full-force. In a few minutes, we had an article from an online ultrasound journal about a case of fibular hemimelia detected by ultrasound, including a photo of the baby’s leg at birth. Later the following day, the ultrasound obstetrician called to tell us that he didn’t think our baby’s tibia was broken; he thought it was bowed. His source? The same ultrasound journal article we had found. Apparently, not much had been published in the medical literature on fibular hemimelia and ultrasound diagnosis.
We also found a community of parents online at www.limbdifferences.org. We read what we could and deduced that there were two routes offered in treating the limb length discrepancy and ankle/foot malformation associated with fibular hemimelia: amputation or limb lengthening. Either path seemed daunting. Close friends offered to help us, and we put them in charge of emailing some parents whom we found via the web to get more information.
We walked in the park. I saw the shape of my baby’s bowed tibia in the branches scattered on the ground. Everywhere I looked, there were bowed tibias and amputated legs and staring strangers and happy children running and jumping. There was also the miraculous 3-D ultrasound image of my daughter’s face, sweet little lips parted, and a voice in my head whispering insistently, She is not her leg – she is so much more.
The next day’s activities included a repeat ultrasound scan with the obstetrician to ensure that none of the other “long bones” in the body were affected, something that could have given us more information about whether or not the missing fibula was part of a larger syndrome, such as Femur-Fibula-Ulna Syndrome, rather than isolated fibular hemimelia. Sure enough, the other bones checked out okay. We went from there to a meeting with a pediatric orthopedic surgeon – the first of six prenatal interviews with orthopedic surgeons in New York City that we conducted before our baby was born. The first doctor we met probably had the worst bedside manner of all, but there was no way to know that at the time. His conclusion: She will probably need an amputation.
We went out for lunch with our parents (by now, my parents had flown in from Illinois to join my husband’s NYC-dwelling parents in providing support) and took a cab to 65th and Riverside, where we walked on the piers under threatening skies. Walking north through Riverside Park towards our apartment on 96th Street, the rain came pouring down. As I watched debris swept away by the current of water rushing downhill, I was reminded that some things are beyond human control. Just like tiny sticks and stones in the pouring rain, we humans are caught up in the messiness of life. Arriving at 96th Street drenched to the core, I cried out of love for the small being moving inside of me, cried out of pain that I could not make it all go away, cried just to keep myself alive.
It was not long after this that with the help of close friends we connected with the Dr. Debbie Krakow at Cedars-Sinai Medical Center in Los Angeles. An expert in prenatal skeletal anomalies, she had personally advised two families whose babies had missing fibulas. After talking with us and reviewing our ultrasound images, she advised us that the likelihood that this was isolated fibular hemimelia – and not a debilitating, systemic syndrome – was 99%.
Still, even with this reassurance, we knew that there were no guarantees. We continued to gather information on fibular hemimelia during the rest of pregnancy, meeting with five other orthopedic surgeons in New York. We connected with other families and I became close friends with another mother whose child with fibular hemimelia is about a year older than our daughter. I had multiple ultrasound scans to track her overall development, since babies with one anomaly have a higher risk of other complications, and to keep tabs on the leg length discrepancy. During one scan, I asked the tech to take a closer look at her hands, since several parents on limbdifferences.org reported that hand anomalies had been missed on ultrasound – when fingers can’t be seen, it is usually assumed that babies have their fingers curled into a fist. My baby flashed me a high-five.
When she was born, we were relieved to see that she had a less severe case of tibial shortening than the photos we had seen in journal articles. She is also lucky in the world of fibular hemimelia – she has five toes (though we were concerned about her having more than five toes, it is more common for children with FH to have fewer than five toes). She has five fingers on each hand. Cognitively, she is, of course, a genius.
Not long after her birth, we visited the two orthopedic surgeons whom we liked best in New York. One thing that we learned fairly quickly was that she does not have a club foot; her foot is in valgus position, which is the opposite of varus (club foot). This confusion, which had persisted for a few months, was a function of obstetricians speaking about orthopedic issues without refreshing themselves on basic orthopedic concepts from medical school. On the advice from one of the surgeons, our daughter’s pediatrician, and the family whom we’d met online, we ultimately decided to pursue her treatment at the International Center for Limb Lengthening at Sinai Hospital, Baltimore, MD. We were thrilled to find that she is a candidate for leg lengthening rather than amputation, although it will be a long road. We expect 3-4 surgeries during her childhood and adolescence, each of which will include a 4-6 month period of wearing an external fixator – a bulky contraption that enables bone to lengthen with daily turning of screws.
We also enrolled in New York Early Intervention, an amazing program that provided us with physical therapy for our daughter three times a week in our home from the time she was three months old. At 22 months, our daughter walks, runs, and dances – and she’s hit and surpassed every developmental milestone along the way without delay.
I often feel frustrated when remembering how we learned about our daughter’s condition. We later agreed to allow the obstetrician/ultrasonographer to publish and make presentations about our daughter’s case in the hopes that it would help other parents avoid what we went through. We agreed on the condition that the presentation include our recommendation that parents be given the website www.limbdifferences.org.
Recommendations for Providers
As a matter of policy, parents facing difficult or questionable prenatal diagnoses should be connected with resources and information immediately following the appointment in which this is revealed. Ultrasound technicians should be trained to provide this information, and/or hospitals should employ staff researchers/counselors whose job is link parents with resources, both prenatally and after birth.
In our case, our experience would have been vastly different if (a) the ultrasonographers had been able to give us a diagnosis and (b) once we had a diagnosis, someone could have pointed us in the direction of resources, such as www.limbdifferences.org, the International Center for Limb Lengthening, Yahoo groups dealing with fibular hemimelia, and Early Intervention.
Recommendations for Parents
Be assertive. Empower yourselves with information. Do not assume that your medical provider(s) will present you with everything that you need to know about your baby’s condition. You may have serious, difficult choices to make, and you owe it to yourselves to gather your own information to the best of your ability. At several points during the process of gathering information about fibular hemimelia, I remember thinking, So this is why I went to college and developed my research skills!
Use the internet. Leave no stone unturned with Google searches. Find an online parents’ support group pertaining to your baby’s diagnosis and send out several personal emails to parents asking for information and/or advice. If, like we were, you are too overwhelmed or too busy with doctors’ appointments to spend much time online, ask friends to help out.
Use your network. If you have friends or family members who are physicians, ask them for help. Even if prenatal diagnosis is well outside their scope of practice, they can help you find the resources you need by talking with their colleagues. If you don’t know any physicians personally, set up consultations with doctors who come highly-recommended from internet sources. Ask each doctor you visit, “Whom else should we talk with? What do you recommend that we read to educate ourselves further?”
On the eve of our daughter’s first lengthening and ankle reconstruction, which will take place in a little over one month, I feel some anxiety and fear about how she will tolerate the experience of surgery. She has no idea what’s coming her way. At the same time, there was a time when I could not imagine how she would ever stand or walk, and now she runs, dances, and climbs fearlessly. I have faith in her. And I have faith in her parents. I am thankful every day for the blessing that she brings to our lives.
Postscript: Three years later...
Surgery and recovery were intense, but all went well. Someday I'll write about the whole process, but here is a quick summary: Our daughter was an incredible trouper. Dr. Herzenberg is a miracle-worker. She gained 4 cm of new bones and a "super ankle" (appropriately-named procedure developed by Dr. H) that allowed her to walk on the bottom of her foot for the first time. Now, almost 5, she is unstoppable. Running, jumping, dance, gymnastics and yoga are some of her favorite activities.