Trisomy 18 diagnosis - D&E termination

My Angel Amelia

Posted on Posted in D&E, Stories, Trisomy 18 (Edward's syndrome)

I wasn’t able to kiss her and tell her I loved her. I left empty handed with a broken heart.

By Nicole

Prior to the heartbreak

From the moment I got pregnant my excitement and joy quickly faded and were replaced with fear. I thought this was normal because I was a first time mom. I feared the worst. When I called the doctor to make my initial appointment I got annoyed when they told me they would not see me until 9 weeks. Then I got furious when they said they would not give me an ultrasound until 20 weeks. I got so angry that I complained and made up a lie. I said I wasn’t sure of my dates so they would agree to schedule me for an early ultrasound at 9 weeks.

Prior to our scans,  every time I shared my fears and thoughts with my husband he just didn’t understand why I was so worried. He kept telling me to relax and said the best thing for the baby was a calm momma. I agreed to try to be more positive and relax. But for some reason I just knew. I knew something wasn’t right.

First ultrasound

I lay on the exam table with my flat belly and pelvis exposed. My sweet husband held my hand and was smiles from ear to ear. On the screen there was our baby, blurry, but there. In my head I kept repeating until I finally blurted it out, “Is there a heartbeat?” The technician turned on the volume and I heard music to my ears, a strong heart beating at 153 bpm. I felt reassured for a moment. Pictures were printed and I was told I would need to speak to the doctor and come back in a week or two for a repeat scan. The doctor acted like nothing was abnormal. She said, “I’m like every doctor who just likes to be overly cautious and wants another scan. Don’t worry, everything is most likely fine.”

My husband was calm and cool and probably a little excited about an extra scan. On the other hand I was a mess, a ball of anxiety. I was constantly wondering why they wanted an extra scan. Why when I told the nurse we didn’t want the genetic blood work did she give me a funny look and asked if I was sure. My husband again begged me to stay calm and positive for our baby.

The beginning of our nightmare

A week and a half later I was back at the hospital, meeting my husband at the door of the OB/GYN office. The waiting room was packed. The 45-minute wait for our scan seemed to take a lifetime. Then I was back on the table and our baby, no longer a blur. What a week and a half can do! Our baby was moving around and had a heartbeat of 174 bpm. I was excited, and for the first time, genuinely happy. The technician measured everything and seemed to print a million pictures.

When we were done she wanted us to meet with my doctor’s partner (my doctor wasn’t in that day). I had no idea what was to come. We were pulled into a conference room, the type of room I knew too well from my mom’s diagnosis; a room for delivering bad news. Tears stream down my face. I just knew. I knew it.

The doctor came in with pictures of our baby. He showed us a layer of fluid that started at the top of the baby’s head and extended down the spine. “This fluid is called cystic hygroma and is mostly associated with chromosomal defects such as Trisomy 18 or Turner’s Syndrome. Babies with one of these syndromes have a 1% chance of surviving to birth,” he said.

As a medical ICU nurse, I had never heard of these syndromes. I didn’t understand. As tears streamed down my face I asked, “If our baby has a chromosomal defect how come I haven’t miscarried yet?” He said sometimes these pregnancies go to the third trimester before the baby dies in utero, and occasionally a baby will be born alive just to die shortly after birth. Our hearts were crushed. I started to sob; this felt like a nightmare. He told us how rare our situation was and how it’s just luck. There was nothing we did or didn’t do that caused it. He sent us to a maternal fetal specialist and a genetic counselor for Chorionic Villus Sampling (CVS).

15-day wait to see the specialist

Why? Why us? I followed every pregnancy rule. I even gave up coffee and didn’t dye my hair, which are not rules. Our jobs are to care for the sick. My husband and I give medical, emotional and physical support to people in poor health.

How could this happen to us after the year we had with my mom? We were already on a roller coaster with my mom winning the shit lottery and getting a rare cancer of the appendix. Now it was my turn to win the shit lottery. My husband and I are healthy. Why did we get handed the short stick? Why did we win that shit lottery?

I was mad, angry with myself, my body. I got jealous of every pregnant person I saw. I deleted Facebook because I couldn’t handle pregnancy announcements, baby pictures, and parents complaining about their healthy kids. I have a friend who is pregnant with her second and still drinks wine. She did the same with her first. How come she gets a normal pregnancy and a healthy baby?

My husband and I did a lot of crying. He now understood why I had been reluctant to be excited and why I had been so anxious. He even said it was my motherly instinct that told me something was not right.

I started to do a lot of research and reading. I found out cystic hygroma indicated a 50% chance of a chromosomal defect and an 80% chance of structural defects. I read a few really positive stories of the cystic hygroma going away, where the baby had no chromosomal defects and was born healthy. I read some stories of babies with cystic hygroma with no chromosomal defect that died in utero because they basically were suffocated by the enlarging sac of fluid. Cystic hygroma looks like a fluid sac separate from the baby. In an ultrasound it may look like the baby was wearing fluid hoodie vest, or lying in a fluid bubble. In reality, the fluid is not separate from the baby, but built up under the skin. It’s fluid that the lymphatic system cannot clear for some reason. The bigger it gets, the more it infiltrates organs like the lungs and the worse the outcome usually is. Then I read the majority of other posts where the baby had a chromosomal defect and died or the parents decided to terminate.

My husband and I finally decided it was time to open up to our families and some friends. We got a few of the cliché statements like “it’ll be okay” or “it’s God’s plan.” If that’s true, what a shitty, unfair plan. It’s not a god I want to worship if this is his plan. I’ve been told: “God only gives us what he knows we can handle.” That’s a terrible thing to say to anyone suffering a crisis.

I started to wish I wasn’t pregnant. I started to hated feeling pregnant and then felt guilty for those feelings. My belly started to pop a little and it made me angry. I hated how large my boobs became and the way I looked in the mirror. I wanted to hide any clue that I was pregnant, so I wore baggy clothes. After I showered I tried not to look at my naked self in the mirror. I was utterly disgusted by my body: the body that failed me and failed my husband but mostly the body that failed my baby.

During that wait I hoped for one of two things. One, that there was no chromosomal defect and the cystic hygroma was smaller or gone. As much as I hoped for that, I knew we wouldn’t be that lucky. I knew something was seriously wrong. So the other thing I  hoped and prayed for was mercy. I prayed that if the cystic hygroma was still there or bigger, if our baby had a chromosomal defect, that the heart would stop so I could naturally miscarry. I prayed to be spared the decision of whether to terminate the pregnancy.

Visit with the specialist

We first met with the genetic counselor who was a so kind. I started to cry from the moment I spoke. She handled me a real box of tissues and explained chromosomal abnormalities and the CVS procedure. She told us that with the sample from the CVS they first do a preliminary FISH report looking for the easily detected disorders like Turner Syndrome (missing a X chromosome), Trisomy 18 (extra 18th chromosome) and Down SyndromeWhat is Trisomy 21 (Down syndrome)? (extra 21st chromosome). That would take a day or two. Then they would look at each and every chromosome and give us the final report in two to three weeks.

Next we headed to the ultrasound. There was our baby, bigger, with a heartbeat of 154. This time my husband and I noticed the cystic hygroma and it was much larger. The fluid filled “hoodie vest” was huge, covering our baby’s head, neck, spine and extending to the feet. I burst into tears. My husband tried to comfort me with tears streaming down his own face.

After the ultrasound, the tech called in the doctor. The doctor was so nice. He introduced himself, explained the procedure, then began it. I felt no pain, just a little discomfort. He discussed our odds and what to expect. He was concerned that the size of the cystic hygroma indicated chromosomal anomaly.

The unknown became a diagnosis, the diagnosis became my life

The next day the genetic counselor called with the FISH results, which were positive for  Trisomy 18. our worst case scenario. I was and am broken. I’ve never felt so broken in my life. Why did my body forsake me like this? Why was I being punished? I knew I would never be the same. That afternoon we held each other and both of us cried nonstop until we fell asleep.

Trisomy 18, according to the NCBI

Despite the well known infant mortality, approximately 50% of babies with trisomy 18 live longer than 1 week and about 5-10% of children beyond the first year. The major causes of death include central apnea, cardiac failure due to cardiac malformations, respiratory insufficiency due to hypoventilation, aspiration, or upper airway obstruction and, likely, the combination of these and other factors (including decisions regarding aggressive care). Upper airway obstruction is likely more common than previously realized and should be investigated when full care is opted by the family and medical team.

The complexity and the severity of the clinical presentation at birth and the high neonatal and infant mortality make the perinatal and neonatal management of babies with trisomy 18 particularly challenging, controversial, and unique among multiple congenital anomaly syndromes. Health supervision should be diligent, especially in the first 12 months of life, and can require multiple pediatric and specialist evaluations.

As a nurse in the intensive care unit I witness adults dying from cardiac and respiratory diseases on a daily basis. I witness the pain and suffering of these individuals and their families. I know it’s a terrible way to die.

Six day wait until we find out our options

At the time of the diagnosis I was in my second trimester, pregnant with a planned and wanted pregnancy that I was now deciding whether or not to terminate. I had a pounding headache for days from constantly crying. No one knew what to say or do for me. I told two friends and although they were sweet I could tell they didn’t understand. They had never been pregnant only to have that joy torn away and shredded apart. I hated the question “How are you feeling?” My true answer was “I feel really terrible; I’ve never felt so terrible.”

I support a women’s right of choice, I just never thought I would have to make this choice… despite the fact I was thinking we may terminate, I love and want my baby.

The meeting

We met with a doctor, genetic counselor, and two social workers. The doctor was a different one then the one who performed my CVS and I wasn’t pleased with her. I wished the kind man who did my CVS could have had this conversation with me. Instead in came a doctor with no bedside manner and got straight down to business. She started the conversation with: “Do you have any questions?” WTF, who starts with that? Who starts with the patient leading the conversation? So I began the conversation by asking if we were having a boy or girl. Turned out we were having a little girl. I’ve always wanted a girl. Then I asked when we would have the final report. The doctor interjected with how accurate the FISH results are and the final result will not prove anything different. Annoyed, I explained that I understood how accurate the results are but that I didn’t think it was an odd request to want the final report to make my final decision. I knew in my heart this diagnosis wasn’t a mistake. But what if it was? I wanted that final report before I made the biggest decision.

The doctor said that insurance would not cover any of this and costs can range from $10,000 to $20,000. I was in shock, not surprised, but shock. The cost is outrageous, I have insurance, I am an educated, working professional. For God’s sake I am a nurse at this hospital. My insurance should have covered this. But insurance decisions are based off of political beliefs.

I am stalling

It has been two week since the FISH report. It has been two weeks that the termination paperwork sat untouched in my book bag. I told my husband I wouldn’t even consider termination until I had those final results in my hand. Every night I lay awake crying for my daughter, knowing I was going to have to make a decision. I dreaded the day the final results would come in. I dreaded the decision to prevent her from suffering, to prevent myself and my husband to watch her die if she was born alive. During those weeks I fell completely in love with my daughter. I loved her and I wanted her. My heart ached to hold her. I bought a fetal Doppler and constantly listened to her heart beat. I was thinking of names. I was thinking of what she would look like if she was born alive and healthy.

The final results arrived

A little over two weeks after the CVS, I got the call with the final results. Not surprisingly, they match the FISH results. We met with the one and only doctor at the hospital who performs termination procedures and made the appointment for one weeks later. We choose a D&E instead of labor induction. My days with my daughter were numbered. My procrastination had to end. I cried every night. I was a zombie with puffy red eyes.

The day  arrived

Thursday, March 23 was the beginning of my 24-hour hell. Even though I am normally a morning person I walked into the doctor’s office five minutes late for the laminaria (dilator) placement. The procedure began with injections of lidocaine into my cervix, then they inserted four dilator sticks into my cervix followed by a wad of gauze in my vagina. Yes, seriously they were sticks, brown uncomfortable sticks. I won’t lie, it was painful and it hurt. I can handle physical pain but the emotional pain rolled over me like a vicious storm. With my vagina open, with the doctor’s hands in my vagina, I broke down into gut wrenching tears. There was no turning back now. When he finished he went through the process. I was to be admitted to the hospital and spend the night, I was to receive two doses of Misoprostol (oral dilators) then have my D&E at noon the following day. He said I could have some cramping and a small amount of bleeding but otherwise I would be fine. My husband asked if the sticks ever fell out and the doctor reassured us that this was rare, and that women rarely go into labor.

That night I didn’t sleep. My husband and I held each other in the tiny twin size hospital bed and cried. I had horrible period cramps but refused any pain medication from the nurse. I thought I deserved this pain. I deserved to suffer. I deserved to inherit all the pain and hoped that Amelia wouldn’t feel anything. Amelia Petra Medina, we decided to name her. She was named after her great grandmother, a strong and kind woman.

Morning came and the cramping became worse. After I stood up to pee and the gauze in my vagina fell out. I started bleeding significantly. I crawled back into bed. The cramps were sharp but manageable. We called in the nurse who paged the doctor. The cramps became sharper and more frequent. I lay in bed trying to absorb the pain and not let it reflect on my face. I didn’t want my husband to worry.

Transport arrived at 11 am and wheeled me across the hospital to a general surgical preoperative floor. When I arrived the nurse instructed me to remove my undergarments and put on the hospital underwear and pads. When I stood up all four of the dilator fell out and my mucus plug broke. Blood and fluids covered the floor. I began to sob. As I crawled back into bed I felt a gush of water from my vagina. My water had broken. The cramps came even stronger and more frequent. They came every two minutes, then every minute.

I was in labor. I’ve never felt so much pain in my life. Because I was in a general surgical preoperative unit the nurses were not trained to deal with a women in labor. They just watched me while I was in agony not knowing what to do. They would ask me questions while I was in the middle of a contraction until I finally screamed to leave me alone. Noon came and the surgical room still wasn’t ready. Surgery was postponed until 12:45. So I laid there and tried to absorb each and every contraction. My husband was like a lost puppy. He had no idea what to do or what to say. During my contractions he would say “you got this” or “it’s almost over” and occasionally he would say “it’ll be all right.” I knew it wouldn’t be all right. I wasn’t in labor to bring home a healthy baby. Once this was over it meant Amelia was dead. I wanted the pain to stop but I also didn’t want it to stop because she would be gone.

At 12:45 the surgical team crowed into my tiny room, knocked me out with medication and wheeled me off to surgery. I woke up an hour and a half later. It was over. I held my belly, I was no longer pregnant. I didn’t get to see her. I didn’t get to hold her. I wasn’t able to kiss her and tell her I loved her. I left empty handed with a broken heart.

 

 

CC0 public domain image courtesy of Pixabay