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Trisomy 18- A Story With The Wrong Initial Diagnosis

Trisomy 18- A Story With The Wrong Initial Diagnosis

Today we have a guest post from a mom that chose to spare her baby pain. She was given a Smith Lemli Opitz Syndrome Prenatal Diagnosis as an initial likelihood and possibility.

I’ve always wanted to be a mom.  I spent my younger years caring for children- as a sister, a cousin, a day camp leader, a tutor, and a teacher; always looking forward to the day I would have my own baby to hold. 

As a kindergarten teacher in my twenties, I dated a bit, but never found the right guy.  At 29 I found myself pregnant.  The dad definitely was not the right guy, but I still looked forward to finally being a mom. 

I did my best to piece everything together and make things as perfect as possible for the baby growing inside me.  I admit that I cried on that ultrasound table when I found out he was a he.  I had always wanted a little girl so badly. 

Now I know that God sent the exact right baby for me and I could not love him more.  He was born in January of 2011 and that boy has my whole heart. 

Still, I mourned the lost dream of bows and dresses, and through the years I always prayed that one day I’d get my girl.

My son’s first year was less than ideal.  His father called me a “f-ing asshole” on the night we brought him home from the hospital because I made a comment about the Gatorade bottle full of vodka he was drinking. 

I felt an overwhelming urge to protect my son.  After many ugly days, I packed up his father’s things and told him to move out. 

My son finally gave me the strength to get out of that relationship because I knew my love for him was stronger than anything else. 

My number one job was to give him the best life possible.  Several court dates and many thousands of dollars later, I found myself with full legal and physical custody of a one-year-old. 

I was happy to have my son with me all of the time, but I was lonely.  I kept thinking that parenting was meant to be shared. 

I watched my sister raise her son (who was the same age as mine) with her husband.  She had a little girl two years later and my heart was happy for her but ached with jealousy. 

My friends all got married and started having kids.  I remember being at birthday parties, baptisms, weddings and enjoying myself with my son, but wishing with all my heart that we weren’t going home alone. 

I’d watch as my friends’ husbands helped change diapers, helped fold up playpens, helped make important decisions about their families.  I felt alone. 

I loved my son more than life and we became quite the pair.  I just wished there was someone there to witness it all with me.  And my heart still longed for another baby. 

I wanted a sibling for my son.  I wanted a daughter.  I wanted to raise a child with a man I loved.  Most of the time it felt like an impossible dream. 

I changed jobs so that I would be working at the same school my son attended and began teaching first grade. 

In the summer of 2016, after a very hurtful break-up, I decided to give dating one last go.  I figured I’d date as much as I could, try my best to find “the one” and if, by the beginning of the school year, I hadn’t found him, I would give up and promise to just be happy with my son.  Maybe I’d even get a sperm donor. 

As August approached, I’d had no luck.  I set up one more date for the Monday after school started, extending my deadline just a bit.  I thought he may be a good match and even looked forward to the date. 

We met for coffee and after two minutes I knew this was NOT the one.  He was rude and arrogant and I drove home crying.  My last shot was over. 

I got home, thanked my cousins for babysitting, and lay in bed with my son.  I opened my dating app for one last look before I deleted it for good.  I cried and swiped, cried and swiped. 

A picture caught my eye and I swiped to like it.  It was something I’d done too many times before to get excited.  I messaged him anyway, and he wrote right back. 

We chatted back and forth and he called me that night.  We talked for a long time on the phone and agreed to meet for dinner on Friday night – I guess I could extend my deadline just a little longer. 

On the way home from that last first date I texted my friends that I would probably marry him and we’ve been together ever since. 

I was head over heals and A settled right into our lives.  He became a dad to my son and filled in so many missing pieces for me. 

I felt my clock ticking and wanted to rush to get married and have kids.  A is a bit more calculated in his decision-making.  I did my best to be patient and just enjoy being together. 

We were happy and in love and while I prayed for a baby, I also prayed that if that was not in the cards, I would be at peace with the little family we had. 

A and I moved in together in the spring of 2018 and it was a happy time.  We spent a lot of time with my family, including my sister and her kids – which now included three daughters. 

I began to think I’d never get my girl, but reminded myself to enjoy my nieces and my goddaughters and be thankful for the little girls I did have in my life. 

I remember in the summer and early fall of that year thinking that these were the good times and that one day I’d look back and want to do them all over again.

On October 18, 2018 we celebrated my 38th birthday and I was so happy with our little family.  The next morning, I didn’t feel well and, on a whim, bought a pregnancy test at the drugstore next door to the Starbucks my son and I go to every Friday morning. 

I stopped at home before going back to work and couldn’t believe it when I saw the two blue lines.  I floated through the day at work and wondered how I would tell A. 

I stopped at a children’s clothing store on the way home and bought a shirt that said “I Love Daddy”.  Somehow I knew to pick it from the girls’ section.   

That night I told A.  Being the calculated person he is, the news was a shock.  He had wanted to be married before kids (I reminded him I was waiting to be asked) and he worried what people would think.  I admit that it was a rough several weeks. 

A felt like he had little control over the situation and I worried I would lose him.  Eventually things calmed down and we both became excited about the baby. 

I think the turning point for A was the email I got with a little pink banner saying it was a girl.  I couldn’t believe I was finally getting my girl.  It felt like a dream. 

I went in for several ultrasounds, never missed a prenatal vitamin, and got plenty of rest.  I was nauseous and tired, but I knew all of that meant my pregnancy was going well. 

Because I was over 35 I took an NIPT test that looked for several different chromosomal disorders.  I was elated when everything came back perfect and confirmed that we were having a girl. 

We told my son on Christmas Eve that he was going to be a big brother.  He had been begging for a sibling and was over the moon. 

On Christmas morning, Santa brought a small pink baseball glove for my son, letting him know he would have a little sister. 

With the scary test out of the way, I allowed myself to get excited.  I picked out clothes, designed a nursery, and completed my registry. 

We talked about names and my son always wore his “Big Brother Finally” shirt.  Three days before Christmas, A and I went and bought a bigger car for our growing family. 

He said his baby girl wouldn’t be driving around in the Hyundai I had J.  I still don’t think it ever fully sank in that I was getting my girl.  But I’d never been happier. 

As January wore on, my son’s 8th birthday came, and before his party we shared the news with A’s family.  Everyone was so excited. 

We had gone in for a 4d ultrasound the week before and I showed off pictures of my perfect girl smiling for the camera.  She had been moving all around and I cried as I stared at the screen the entire time.  

There was my girl!  I was so proud. 

A few days before my son’s birthday (on a Wednesday) I had gone in for a routine appointment. 

There was another round of blood tests, but I wasn’t worried because the big scary one was perfect and my girl had looked so good at the 4d ultrasound.  After a rocky first few months of the pregnancy, I joked to my doctor that I was actually there for the first time with no complaints or worries.  I knocked on wood. 

I left the appointment, went across the street in the rain to the lab to get my blood drawn, and then drove to the bakery to order my son’s birthday cake.  Life was perfect. 

 The Monday after my son’s birthday was MLK day and we spent a lazy day playing with his new toys and grocery shopping for the week. 

The next day was Tuesday and I briefly remembered my doctor saying the blood test results would come to me in the mail in about two weeks.  Unless there was a problem, in which case I would get a phone call in about a week. 

When Tuesday ended, I figured we were out of the woods.  On Wednesday morning I greeted my students and thought to myself, “Wow, I’m in such a good place right now.”  Everything was right with the world. 

That morning I was assessing the students’ reading levels.  I had my phone with me so that I could use the calculator to figure out their scores. 

As I was testing a little girl, my phone rang.  I didn’t recognize the number so I sent it straight to voicemail and went on with the test, thinking how annoyed I was by all the sales calls I had been getting. 

My phone vibrated, indicating that I had a voicemail.  I casually looked at the transcription as the little girl continued to read “Big and Small Cats”. 

All I remember seeing were the words Kaiser, and genetic counselor, and test results.  It took a second to sink in and I panicked. 

I told the little girl to stop reading and told my aide I needed to make a phone call.  I grabbed my keys so I could go to my car.  I frantically dialed the number as I walked out of the school. 

The kind genetic counselor on the other end of the line spoke slowly and precisely as she explained that one of the numbers in my quad screen was off. 

She said my “unconjugated estriol” was low and this indicated SCD. By this time I had gotten in my car and I just started driving.  I never went back to work.  I tried to take notes as she explained that the S stood for Smith-Lemli-Opitz Syndrome, the C stood for chromosomal disorders, and the D stood for fetal demise. 

She explained that they suspected Smith-Lemli-Opitz because of the estriol and also because my NIPT had already screened for chromosomal disorders. 

She gave my little girl a 1 in 37 chance of having it.  The next step would be a level two ultrasound.  This would look for abnormalities that indicated the syndrome. 

Still, even if my girl looked perfect there would still be a chance she could have it.  It was recommended that I also get an amnio.  I was nervous about getting an amnio and since I knew that ultrasound would just have to be perfect.

I wondered if A and me could just be tested to see if we were carriers for SLOS.  We would both have to be carriers for our girl to have it and even if we were both carriers (which was extremely unlikely), we only had a 25% chance of passing it along with each pregnancy.  Between these numbers and the 1 in 37 (which was a 2.7% chance) I tried to remain positive.

My mom and I went to see a different genetic counselor that afternoon.  I hoped that she would reassure me; tell me that she sees this all the time and that the babies turn out fine. 

She did say we still had a good chance that my girl was, but overall I felt like she was preparing me for the worst.  I tried to stay calm.  A and my mom kept reminding me that the numbers were on our side.

Even so, I didn’t sleep at all that night.  The ultrasound was scheduled for the next day and I was a wreck.  Twenty-four hours ago I was sure I was carrying the world’s most perfect baby girl and I was so happy.  Now I was a mess.  I drove A crazy with my worrying. 

In the morning, my mom, A and I drove the hour to the ultrasound.  I thought about what our next steps would be once they told us our girl looked perfect on the screen.  Should we do the amnio?  Do the genetic testing?  What would put my mind at ease and let me know that my girl was, in fact, perfect?

The ultrasound took forever.  The tech made some small talk but was mostly silent.  I felt like she was pushing down really hard on my stomach.  But I tried to be still and hold my breath so she could get the best views of my girl. 

I looked at every measurement, knowing that SLOS babies were usually behind with their growth.  I was supposed to be 17 weeks that day. 

Some measurements were about a week behind, but some were on track or even ahead.  I asked the tech if she was measuring ok, and she said they just want the babies to be within two weeks of their gestational age, so the measurements were good. 

After about 45 minutes, the tech left the room and said she would come back with the doctor to go over results. 

I laid there on the table for what seemed like forever. A and my mom waited patiently in chairs next to me. 

They had been so reassuring before, but they both looked worried now.  The curtain was finally pulled back and, instead of the doctor I was expecting, a lady who introduced herself as a genetic counselor came in. 

As soon as she said who she was I knew.  I said, “Are you here because the ultrasound was bad?”  She said, “Yes.”

 We had to wait another few minutes for the doctor and I lost it.  I felt like jumping out of the building.  I got off of the table and paced up and down the halls.   I had to get out of this nightmare.

The doctor finally came in and sat on a stool.  I’ll never forget her face as she explained what they saw on the ultrasound.  She said she would go over it from head to toe. 

To begin, my girl’s brain hadn’t formed properly and her cerebellum was small.  Her esophagus hadn’t formed correctly, so her stomach was small.  Both of her hands were turned inwards and clenched.  Half of her heart was simply missing.  

I cried and cried.  A even cried.  I asked if this meant she had SLOS.  The counselor said, “She definitely has something.” The doctor said, “I’ve never seen a case of it before, but I’ve never been so worried.” 

I was advised to terminate, as my sweet girl had no chance of survival, no matter what was officially wrong with her. 

I was told that if she did live to be born, she would only suffer and die.  They could provide “comfort care” but nothing more would be done for her.  They did an amnio to get a definite diagnosis and as the needle went through my belly I squeezed A’s hand.  He felt like my lifeline.

We were brought into another room where we were given our “options”, although nothing felt like it was in my control anymore.  These weren’t “choices”. 

I could have a D&E or go through Labor and Delivery.  Both were considered abortions (something I am totally against), and I kept thinking there should really be another term for what was going on here. 

Because I work for a Catholic school, I was told I would have to pay out of pocket for the procedure.  The doctor and genetic counselor promised to do everything they could to help try and cover the cost. 

Perhaps there was a doctor who would “stick his neck out” and give me something to stop the baby’s heart.  Then I could show up at labor and delivery and pretend I didn’t know what had gone wrong. 

That way, it wouldn’t be considered an abortion and the labor and delivery cost would be covered.  That seemed like a shitty option. 

I knew immediately that I could not let my little girl suffer.  I would be her mother and protect her in the only way I could.  I loved her so much. 

I often think that there are so many joys here on Earth that she will never experience.  And I’m sad for her.  But I also know that I protected her from ever feeling any pain either. 

When I look at her smiling face on those 4d ultrasounds I know that all she ever knew was the safe place inside of me.  She never gasped for a breath or struggled to swallow. 

She was ok as I carried her and my body did the work her heart couldn’t have done on her own.  I hope she felt the love we all had in those months. 

I talked to her often.  Each night as we watched TV my son would put his hand on my belly and say “Hey, Sis.” 

As we slept and A held me with his hand on my belly I hope she knew now much her daddy loved her too.  I hope all she ever knew was peace and love. 

When I got home that day and my son came home from school I tried my best to explain that he wasn’t getting a sister after all.  It was torture. 

His sweet face was, at first, so confused, and then when he realized what I meant he broke down and cried.   He just kept saying, “I want my sister.  I want to be a big brother.”  I would never wish the pain of this moment on anyone. 

After a week of phone calls, counseling appointments, and complete denial, I was finally scheduled for a D&E.  I asked every single doctor I spoke to what the best thing was four our girl.  No one gave her any hope of survival. 

I was told it would cost me roughly $10,000 to have the D&E.  It’s a two-day process and on the first day we were sent to the OB’s office to have laminaria inserted into my cervix to dilate it.  Sitting in that waiting room with all of the happy, expecting moms was pure torture. 

After the procedure, I was sent home for the rest of the day.  I spent the afternoon and evening saying goodbye to my girl.  I took one last picture of my pregnant self. 

I lay in bed with my son and held him, knowing it would be the last time my two kids and me were together.  At 3:00 am I had to take some other pills. 

I wasn’t entirely sure what they were for, but they must have started contractions because soon after I was in a lot of pain.  I was shaking and cold.  I couldn’t wait for it to finally be time to go to the hospital. 

At 5:30, we dropped my son off at my parents so my dad could take him to school.  My mom came with us to the hospital. 

We arrived at 6:00 and when I checked in they said all that was due was my $15 copay.  I told them I thought I was supposed to pay out of pocket. 

The lady at the desk said all she showed was the copay.  I thought maybe someone did me a favor or there was some mistake.  But, I just paid the $15 and hoped at least that part had worked out.

I was soon taken back to be prepped for surgery.  Tears rolled down my cheeks.  I was in a room with about 10 other people all getting ready for various surgeries. 

The woman next to me kept talking about the extra skin she was having removed.  The man across from me was having his back shaved for shoulder surgery.  I wished I were there for any other surgery than the one I was having. 

I knew the people prepping me knew what surgery I was there for and I wanted to scream that I wasn’t doing this because I didn’t want her.  I wanted her so bad!  A came back to hold my hand.  I told him to tell his girl that he loved her. 

It was hard for him to be there.  He kissed me and told me he loved me so much and then my mom came in to take his spot.  By this time I felt like I was in labor. 

It reminded me of the long car ride to the hospital after my water broke on my way to work when I was pregnant with my son.  Same pain, but this time there would be no reward.  No baby placed upon my chest. 

Finally, my doctor came by and asked if I had any questions before they took me to the operating room.  I asked the doctor over and over to please tell my girl I loved her and that I was sorry.  She said that she already knew.  I asked her to get footprints. 

They finally wheeled me into the OR and there were so many people there.  I cried and said I loved my daughter.  I wanted them to know this wasn’t just another abortion.  My baby was so loved.  The last thing I remember hearing was the doctor telling everyone that this was an 18-week termination for genetic reasons. 

When I woke up I felt good physically, but otherwise, I felt completely defeated.  A took me home and we lay in bed.  He told me he cried when the doctor handed him is daughter’s footprints. 

He told me not to look at them yet.  It was too sad.  People started sending flowers and dinners.  All I kept thinking is I wished they were sending these things in July because I was home with a new baby.  And why did all of the flowers have to be pink? 

I spent nights screaming for my baby.  Sometimes I would get out of bed and drive at 3:00 in the morning.  I wanted to escape. 

I tried to be positive and remember what I had.  But then I would just think that all these wonderful things in my life should have been hers too.  And we would have loved her so much!  How am I going to get through her due date? 

And then Halloween when I had already picked out her costume?  And then Christmas when the stocking I had bought for her would never be hung? 

This Christmas as I took my son to see Santa and could feel his belief slipping away, I thought, it’s ok – next year I get to start all over and he could be my helper.  We’d make her Christmases magic together. 

There would be so many more Christmas mornings waking up to see what Santa brought.  I feel like I will always live a parallel life thinking of what things would have been like if she had been healthy. 

How old she would be, what she would have been wearing, what she would have looked like…

As we waited on the amnio results, I worried that A and I could never have children if we were carriers for this awful disease.  Could we afford IVF?  Would A want to take it that far?  I wanted another baby so badly, but maybe that dream was over.

We made it though the weekend, I cried though a Super Bowl party, and when Monday came my good friend flew in from LA to spend the day with me. 

We picked out a silver box for my girl’s ashes and had it engraved with her name.  We went to a doctor’s appointment and then went to the store to pick out a box for all of my girl’s things. 

Walking out of the store, I saw a voicemail on my phone from the genetic counselor.  She had test results again. 

We quickly got in the car so I could call her back.  My friend rubbed my arm as we waited for the genetic counselor to explain the results.  She said that my sweet girl actually had trisomy 18 that was missed on my NIPT. 

While this was a terrible diagnosis, she explained the silver lining.  This was not something that A and I had passed on – it was a “fluke” and we had no higher chance of it happening again than anyone else my age. 

It also explained everything that was seen on the ultrasound, so an autopsy was not needed.  My baby could finally be released to the mortuary to be cremated.  The genetic counselor also explained that this should reinforce that the decision I made was right. 

This disease is always fatal and even if my girl made it to birth, she only would have suffered.  For the first time since the surgery, I felt a weight lift off my shoulders.  We had hope for the future and I knew I had done my best for my girl. 

The relief only got me so far and now, almost two weeks from the surgery, I’m still having very hard days.  I wanted this baby so badly and I can’t believe she is gone. 

It’s so cruel.  It’s so unfair.  It’s bullshit.  I’ve been reading books about grief, books about other mothers who terminated for medical reasons.  I’ve started taking antidepressants and I’ve talked to friends who have also had losses.  None of it has brought my girl back. 

A week after my surgery, I logged into my medical account to see that the bills actually were coming.  The favor or mistake or whatever was not true. 

So far, about $2,000 in bills had been posted.  I called and the man on the other end of the phone told me to expect about $19,000 more. 

I was charged for single thing associated with the procedure.  Every blood draw, every doctor’s appointment, everything.  Everyone I talked to was “sympathetic” but no one could help.  I called my employer and explained my situation.  

My doctor wrote them a letter explaining that the procedure was medically necessary.  They wrote me back and told me that whether or not a procedure is covered is strictly based on what the procedure is and not on whether or not it is medically necessary.  

They said not to contact them about this again. 

It feels like a punch to the gut, being kicked while I’m down.  I’ve worked for Catholic schools for sixteen years.  I’ve dedicated my life to my students.  But in my greatest time of need, I’ve been left on my own because they see me as a murderer. 

And I can fight it, but it only drags things on.  And for what?  Do I win if I don’t have to pay?  I don’t think there’s any way I come out of this a winner.  But, maybe, we need to look at people instead of policies.  I need time to decide if this is a battle I will fight.  Right now I’m fighting too many others. 

So, I will try to focus on my family.  I will love A and my son hard.  I will love my daughter, Grace, in the only ways I can.  I will talk about her and I will remember her and I will treasure every happy moment she gave us. 

My son still cries about his sister.  We both wish so badly she was still with us.  Mostly I just let him cry and tell him that I am sad too. 

But I tell him that Grace had a purpose.  She gave us joy, even if it was much too short.  And maybe she will hand pick our next baby. 

Because, as it was with my son, I’ll try to continue to believe that God gives you the exact right baby at the exact right time.  I wish with all my heart that it was Grace’s time, but it simply wasn’t to be. 

Maybe one day I’ll know why.  But now, I hold on to the hope that I was the best mom I could be to her.  I love her more than anyone could know and I hope she’s proud of me. 

Read April’s full story by clicking above.

Read stories of terminations for medical reasons by clicking above.

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