That was the day. The line in the sand. The day we think about every day. This pregnancy so far was fairly uneventful. No morning sickness, no pains, just patiently growing our second baby girl. I had already had plenty of advanced testing done to ensure the baby’s health; ultrasounds every four weeks and blood work to rule out any abnormalities or developmental issues. Every test came back negative, so I thought I had no reason to worry when we walked into our 28-week ultrasound.
I was wrong.
I remember tears of happiness as I looked up at the screen. I remember telling Evan she had Ellie’s lips and I distinctly remember silence and a look of confusion coming from an otherwise chatty ultrasound technician. She told me to sit up, while calling in the doctor to look over the images. They huddled in the corner of the small exam room, as the technician pointed at the images with her pen. “This concerns me”, she whispered to the doctor. His head down, he told us to join him in his office to talk.
“So guys, the baby’s organs are functioning great, heart & brain look good, there is just one thing that is concerning me…Your baby’s femurs are measuring very short.”
Truth be told, I didn’t even know which was the femur bone.
“Sooo, what exactly does that mean?”
“It could mean a few things, so I would like to send you to a specialist to get this figured out, they can see you tomorrow.”
I wanted to rewind time. Just a few minutes ago I had a healthy baby girl and now…
I took to my phone instantly, googling “short femur bones in fetus” “short long bones” “bones measuring short at ultrasound” as and you can imagine the results ranged from mild abnormalities to down syndrome, to death. I spend the night glued to my phone, obsessively googling my way into the answers that most appealed to me. By morning my eyes were fried and it was time to head to the Perinatal Doctor. I had been there before for my 12 week ultrasound, so I was familiar with the office, the staff, and while we were in the waiting room, I even got lost in an episode of Rachel Ray and almost forgot why we were there.
The ultrasound lasted about 30 minutes. This time the technician carefully measured all of her bones several times. She left the room, came back, took a new measurement, left the room and the doctor walked in.
He closed the door behind him, sat down and said, “Are you ready? There is a problem.”
I felt my heart drop.
“It seems your baby has a form of Skeletal Dysplasia. All of her long bones are measuring 4-5 weeks behind, while her head is measuring 4-5 weeks ahead. You also have very high levels of amniotic fluid. I believe she has a severe form of dwarfism.”
My head started to spin.
He went on. “I would like to send you down to The Children’s Hospital of Philadelphia, as they have more experience with this sort of thing. I’ve only seen this once or twice in my career. I’ll send out the paper work after lunch.”
He handed us a box of tissues, a cup of water and left the room.
Then came the breakdown.
The next several minutes were intimate and painful and private.
That afternoon, we received a call from CHOP (Children’s Hospital of Philadelphia). They were able to get us in in 10 days later. For 10 days we kept to ourselves. We didn’t know what to say, or how to act. I dove into my work, office door closed, hoping no one would ask me any questions or talk to me about anything other than work.
The day before our appointment was Mother’s Day. It was my 3rd Mother’s Day with my Ellie and I knew I had to put on a brave face for her and block out my fears of the following day. My mom had given me a beautiful silver necklace with a solid bar, meant to engrave the name of the baby on it after she was born. I put the box in a drawer.
May 9th 2016.
6AM and I was checking into CHOP for a full day of testing. I met with several people all who made up my “team.” A Maternal Fetal Medicine Doctor, a Social Worker, a Genetic Counselor, a Radiologist, several nurses, a Child Life Specialist, a Psychologist and several ultra sound technicians. It was a long day of testing, talking, measuring, poking, prodding and waiting. Lots of waiting. By 4pm we were summoned to a small consultation room with 3 members of the medical team. Evan, my mom and I sat around a small table to discuss the results of the testing.
We were told the team was "fairly certain" that our baby had a lethal form of skeletal dysplasia, (which is the medical term for dwarfism) called Rhizomelic Chondrodysplasia Punctata or RCDP. The condition is characterized by shortened limbs and a chest that is too small to develop lung growth. Our baby had all of the textbook symptoms as determined by all of the ultrasounds, and without proper development of her lungs, she would never be able to breathe on her own. We struggled to understand what this meant and just how grave her condition was. The doctor explained that she believed our baby’s condition was not compatible with life.
I start to feel a stabbing in my chest and I don’t know what to do. I grab Evan’s hand to reassure myself that this is real and I’m not in the middle of a cruel nightmare.
How could this have happened? Everything was fine a few weeks ago. We had just painted her room the softest shade of pink. This had to be some big mistake.
The doctor went on for about an hour about how she came to the diagnosis of RCDP. She spoke softly and slowly and had a genuine kindness to her voice. She has definitely had this conversation before. My mom sat in silence, cool and calm and listening. I have always admired her ability to stay so focused in a crisis. Evan would squeeze my hand every few minutes to reassure me he was right there with me. I just sat there, my hand on my belly, wishing I could just hold my sweet girl right now.
The plan was to do an amniocentesis to target the specific gene mutation, then wait a month for results. The doctor gave me a big hug and we were on our way back to Jersey.
Our lives for the next month were a blur. We informed our closest friends and family of what happened. We asked for privacy and prayers. We kept to ourselves. We focused on Ellie. I went back to work 2 days later. For 1 month, we grieved. We cried. We talked about what we would name her. What we would do after she was born. How would we honor her memory? How on earth would we explain this to Ellie? I found the necklace my mom had given me for Mother’s Day. I told her to take it back.
I had grown this baby for 7 months, and knew I had 2 more with her. Two more months of keeping her safe. Two more months to prepare myself, two more months to figure out how on earth, as her mother, I would find the strength to survive this.
June 1, 2016
We were back in Philly. More tests, more prodding. This time I couldn’t even look up at the ultra sound image. I couldn’t watch my sweet girl up there, knowing her fate. A long time had passed, more waiting, and then, the Chief of Fetal Medicine walked in. He was an older man, with kind eyes and a mid-western accent. He stood over me and spoke slowly.
“Do you know why we kept you waiting so long?”
“no…”
“I’ve been reading about your case, researching, looking at all of your images, and I am truly baffled.”
“ok…”
“I think…she’s going to be ok.”
Pounding. My heart was cautiously pounding.
We met with our genetic counselor.
“We received the results of your amnio just minutes ago, and it's not what we thought it was.”
“I’m confused.”
“She tested negative for RCDP, she has a much milder, non-lethal form of Dwarfism. She has Achondroplasia. She’s going to be small, that's all.”
Joy. Pure joy. This baby, our baby, she is our little miracle.