Amelia's Story

At my 20 week ultrasound, my regular doctor became concerned because Amelia's (aka "Baby A") growth had dropped to almost two weeks behind her brother. I was referred to a high-risk doctor and received a level 2 ultrasound. Although we were nervous, we never expected to hear what we were told. I'll never forget that day. The ultrasound tech was so kind; she took lots of time with us and showed us all of the "fun" stuff--where both babies' hands and feet were. It was such a pleasure to watch them wiggling away in there. Then, the doctor came in. The mood in the room immediately changed; the tech became very serious as she showed him different angles and anatomy. I recall him actually expressing frustration with her, which I thought was quite unprofessional and just added to the stress of the moment.  Finally, he rather unceremoniously told us that he believed that Baby A had Trisomy 18, and that it was unlikely that she would survive to be born alive.  To say that we were shocked was an understatement--blown away is probably more accurate.  He went on to show us that she had what looked like Dandy-Walker Malformation, as well as a congenital heart defect. He explained that she was still growing but that her growth had slowed significantly.  His tone was flat and he kept speaking "medical-ese"; the ultrasound tech (whose name was Amelia) kept handing me tissues as I lay there silently crying and listening to the baby's heartbeat.  We were given the option of having further testing done via an amnio, which we quickly decided against because Baby B was doing so well and we refused to put him at risk.

We left shocked, and mourned for our sweet Baby A for the next few months. I rented a home doppler system and listened to her heartbeat daily; we were told that she would probably pass away in-utero and I went in for frequent ultrasounds, and the control freak in me couldn't handle showing up for a scan and being blindsided by the news that she was no longer alive. Eventually, we were able to accept what was going to happen. We didn't "make our peace" with it because planning to lose a child is something that you are never able to be at peace with, but we acknowledged what would happen and started planning for it. We arranged for a bereavement photographer to be present at the birth through the wonderful "Now I Lay Me Down to Sleep" organization. We planned for her to receive "Comfort Care" after birth, meaning that no life-saving measures would be taken. I was admitted to the hospital at 28 weeks due to high blood pressure, slow growth on the part of both babies, and constant contractions. During what would become a four-week stay, we met with NICU neonatologists, took tours, and talked to the nurses on the floor about our exact plans for what was to happen after their birth. All the while, Amelia continued to survive. At our twice-weekly scans, which were meant to closely monitor Baby B, Amelia would be chugging along, even passing her bio-physical profile tests on occasion. We started to realize that she would likely be born alive, which both thrilled us and added to our heartbreak.

At 32 weeks, Baby B dropped to the 3rd percentile for growth, which indicated that he would do better outside than in utero. We planned a c-section for the following day.  Our families came to be present; we desperately wanted everyone to be able to meet and love our tiny Amelia. The spectrum of emotions that evolves from both being excited about the birth of a healthy child and preparing to lose another child is indescribable. The day was a blur, and the anesthesiologist was amazing and gave me some very nice medications to keep me relaxed during the procedure--he knew the story and I'm pretty sure he gave me some extra happy juice, which I appreciated.  There were many doctors present at the procedure because nobody really knew what to expect from either baby.  Amelia was born first; she didn't make a peep but everyone told me she was tiny and alive. Anderson came last, and he let out a lusty wail, which was absolute music to my ears.  I remember them bringing both babies over to me and despite my foggy state of mind, I remember noting both how tiny and how beautiful Amelia was.

My blood pressure spiked immediately after giving birth, so I had to go to the recovery room and receive a hefty dose of magnesium sulfate.  Of course Marty went with the babies to the NICU, where everyone took turns holding and loving Amelia. Finally, they took me through the NICU to hold them both one last time before heading up to my room to meet the bereavement photographer, and to prepare for Amelia to be with us in my room.

When I got up to the room, I was still feeling the effects of the c-section meds and the mag sulfate. I wasn't as hysterical as I thought I would be; instead, I just felt numb. The photographer was there, and she was so incredibly kind, chatting with me as she set up equipment. What happened next was, without a doubt, both the biggest shock and the biggest miracle I've ever experienced.  My sister and brother-in-law came RUNNING into my room.  I emphasize running, because that is exactly what happened.  My sister couldn't speak fast enough. She told me that a doctor was on her way up but that they couldn't wait for her to tell me; there was a geneticist in the hospital that night, and she'd looked Amelia over and declared that she did NOT, in fact, have Trisomy 18. She was very familiar with the syndrome and that she was certain. She was recommending that both babies be transferred to a hospital with a higher level NICU.  I was stunned. I stuttered and sputtered and cried, and then the geneticist appeared and explained everything more carefully. She said that she'd seen enough babies with T18 to be able to identify them by sight, and that Amelia, although definitely displaying some dysmorphic features, didn't have T18. She wanted me to immediately request more than Comfort Care, and she wanted both babies transferred to the University hospital down the road. I remember looking at the bereavement photographer, who had tears in her eyes, and apologizing for having her come all the way to the hospital and set up for nothing. She of course told me that there was no apology needed and that it was miraculous--she wished she'd witnessed other happy endings like this. The special transport team brought both babies up in their incubator for me to see before transfer, and then they were off.  The next day, I was given a compassion transfer myself, so that I could be with my babies while I healed. Thus began our journey as a family of four.

During her 99 day NICU stay, we learned a lot about Amelia. She did have Dandy-Walker malformation.  She had a few congenital heart defects. Her features were dysmorphic; she had clinodactyly, a narrow face, small eyes, and was just incredibly tiny everywhere.  However, she proved to us that she was strong and stubborn, and despite being born at a whopping 1 pound, 1 ounce, she had an incredibly uneventful NICU stay.

 

Amelia was tested for all of the more common syndromes, which were all negative.  She continued to grow, but she remained TINY, despite eating well. She was eventually diagnosed with an unidentified form of dwarfism. She is followed by many specialties, including neurology, nephrology, endocrinology, and genetics. At 5 years old, she is a whopping 22 pounds. Amelia's dwarfism is of the proportional variety, meaning that it's most likely a primordial dwarfism. We continue to look at all of our options and seek out information in hopes of getting a more specific diagnosis.  In the meantime, she is a spunky, smart, feisty girl who is "typical" in every other sense of the word. She's our little miracle.