What to Expect

Today, we met with the fetal maternal doctor. We had an ultrasound done, and then we sat down with him for a consultation. 

He told us that the baby has a few characteristics with trisomy 18 at this point, and that we will be able to tell more in a few weeks when the baby is more developed. 

Right now, the baby has a triangular shaped head, which is consistent with a trisomy 18 diagnosis along with the cystic hygroma. With the positive trisomy 18 testing, and these characteristics of trisomy 18, it increased her diagnosis to be 90% accurate. 

I’m still have a hard time believing this is our baby that this is happening to. 

The cystic hygroma, has doubled in size in two weeks. I didn’t expect that. 

She was moving her arms and feet all around during the ultrasound, almost as if she’s happy where she is. It breaks my heart that I can watch her on a screen, and that may be the only times I see her alive. I love her so much already. My poor baby. I hope you know how much I love you. 

During our consult, he told us that we had made it a long way, but that in our case he maybe gives us about six weeks until her heart stops beating. I'll never understand how this happened to our baby.

 Due to the cystic hygroma, her heart will stop due to the amount of pressure it’s putting on her. 

He advised that I see my OB every week instead of every two weeks.

He went into depth with how I can somewhat expect delivery will be. 

I’m having a hard time thinking about that right now. No one should ever have to go through this. 

How did this happen to us?  

He went on to tell us that this is not common. Its almost as if you get struck by lightening.

How did this happen to our baby

We decided to opt out of doing amnio testing. 

After we talked about it, we don’t feel the need to undergo anymore testing to confirm what we already know. 

This is our baby. We know that our prognosis is poor, we know that one day, her little heart will stop beating, and we will have to tell her goodbye far sooner than we ever wanted to. We don’t want to put her through anything more than she’s already going through, and I can’t keep repetitively hearing all of the things that our poor baby has wrong with her. I will love her no matter what, and I will keep her here as long as I possibly can.

I know she is not healthy. I wish more than anything she was, although I wish there were, there aren’t any tests that are going to cure her. 

For now, as sad as I am, all I can do is thank God for her. I will fight for her life, and I’ll do the best I can to cherish the time I do have with her, because I know it won’t be long enough. I’ll always wish there was more that I could do to save her. I’ll never understand why this happened to her.

I hope she knows how loved and wanted she is. 

My heart is broken. 

It’s a Girl

We met with our doctor the following day, to talk about our baby’s diagnosis and how to move forward. 

She told us that most often baby’s with Trisomy 18 will miscarry, are still born, or may live a few hours after birth but not many do. 

She asked if our kids knew, and they do, we had told them just four weeks ago. We waited to tell them and our families. We had already had an ultrasound, doctor appointment, and even waited a few weeks after that to tell them. She knew that was hard, “what do you tell them?” 

What do I tell them? 

That was something that did cross my mind, but not the actual conversation of it, just the heartbreak of it. How do I tell them that they will never know this baby? This baby they have begged and begged for, planned for, were so excited for. How do I tell them this baby will go to heaven instead of come home to us? I lost it. 

We talked about what to expect when I have the baby, and it will all just depend on how far along I am. 

At this point, I will have no indication of losing the baby. The only way I will find out is to come in for a doctor appointment, and our baby won’t have a heart beat.

How is this happening to us?

 I will now go to appointments every two weeks to monitor the baby’s heartbeat. 

She went on to tell us that our next step is to meet with a Maternal Fetal Doctor. They will do more detailed ultrasounds, look at the baby more in depth, and suggest that we do an amniocentesis test. 

Matt and I had already discuss this test, and I don’t have the need or want to move forward with it. We discussed the test with my doctor, and she told us that the test does have risks for infection and miscarriage, and our decision should be based on how far am I willing to go, and that’s something the fetal maternal doctor will also discuss. 

How far am I willing to go? This is my baby. A life that we created. I feel this baby everyday. I am willing to go to the ends of the Earth. If I could, I would carry this baby forever and not think twice about it.

 It’s crazy isn’t it, how you know you would devote your life to someone that you have never met. 

We agreed not do any further testing. We know our baby is not healthy, our prognosis is very poor, and ultimately,

I’m having a baby that I can’t keep.

I know that one day, the baby’s heart will stop. As hard, and as gut wrenching as that is, it’s unpreventable. It’s hard. It’s hard to accept, almost like a pill I can’t swallow.

 It’s a nightmare I wish I could wake up from. 

It’s hard to know that one day, I’ll have this baby, and I’ll have to face my worst fears, and I can’t do anything about it.  I’ll have to tell this baby goodbye, the baby that I would have given anything to keep. I’ll never bring this baby home. I’ll never be able to rock this baby to sleep. Ill never watch this baby take their first steps. I’ll never be able to see this baby grow up. I’ll never be able to give this baby a birthday party. I’ll never be able to watch this baby play with their brothers and sister. I’ll never be able to see this baby go to their first day of school. I’ll never be able to watch this baby grow up. 

This is the hardest thing I will ever do in my life.

My doctor told us she would set up an appointment with a maternal fetal doctor, and she would be back. Before she left the room, I asked if she could tell us the gender of the baby. 

It’s a girl. 

Our beautiful baby girl. How heartbroken I am. 

We were set up to meet with our fetal maternal doctor on Thursday, which was in just two days.

Diagnosis

One week. Turned into 11 days. We waited 11 days for our test results to come back. 

My doctor called me around 4 o’clock with our test results. She asked if I wanted to get my husband on the phone, and I did. 

She told us that she got our test results back, and they came back positive for trisomy 18.

My worst fears, came true and were right in front of me. She went on to tell us that with these tests, 80% of them come back with false positives, but with the condition our baby already has with a cystic hygroma and the size of it, she did not believe that was our case.

All I could do was cry. 

I had read about different possible conditions our baby could have during researching cystic hygroma’s, trisomy 18 being one of them, and I knew that our prognosis would not be good. 

I asked her what the survival expectancy was, knowing the answer but clinging onto the hope that I had been misinformed. She told me that most often babies are still born, miscarry, or make it to term and maybe survive a few hours after birth.

My heart broke. 

How did this happen? 

She asked that we come in the next day to discuss how we move forward. 

My heart was broken. My poor baby. 

My heart hurt. It hurt for my kids, who were so excited to have another baby that this was all they had talked about. It hurt for my baby, who I felt that I couldn’t help. It hurt for my husband, how could this happen to us? 

When you look up trisomy 18, you’ll find that it is very rare. It is also known as Edward’s Syndrome. It is a condition that causes severe developmental delays due to an extra chromosome 18. There are fewer than 20,000 cases in the U.S. a year. My doctor told us that she sees maybe 1 case every other year if that. Symptoms include low birth weight, small abnormally shaped head, and birth defects in organs that are often life threatening. How did our baby fall into that category, how did this happen? 

How we got here

At 14 weeks, I went into the doctor for a check up due to pain I was having. It was a constant and unbearable pain that I had never experienced before. It was so painful, it scared me that something was wrong. I was told to go to ultrasound when I got there, and that another doctor in the practice would see me since my doctor was out of the office on Tuesday's. 

I had my ultrasound, and saw another doctor. She told me that I had a cyst that more than likely caused the pain I was having, and it would subside and we would continue to monitor it. 

Two days later, I saw my primary OB. I explained what happened to me, how I felt, and that it did subside after a while and I was feeling ok. She checked the baby’s heartbeat, then said we had a few things we needed to discuss. 

She went on to tell me that they did find abnormalities with my baby in my ultrasound, and she was concerned. 

She told me that the baby had fluid behind the neck, called cystic hygroma. All I could do, was nod my head and say “okay.” I didn’t fully understand what was wrong with my baby, or how this happened. 

She went on to tell me that it’s pretty rare for a baby to develop a cystic hygroma, and when they do, it often indicates Down syndrome.

It was a lot to take in. More than I expected at my 14 week check up. I didn’t know what to say, or what to ask at this point, all I could do was try to fight back tears. She asked me how I felt about doing genetic testing. 

Flashback to my previous pregnancies. Matt and I discussed genetic testing years ago, because at every first doctor appointment for pregnancy, they ask if you want to do genetic testing. Our answer has always been no. We have always felt that if we had a baby that had special needs, it would not change anything. We would love it the same. We would be excited to have a baby, and it wouldn’t matter what care or needs the baby had. It was our baby and we love them no matter what.

I asked her what she thought I should do, and she said that with this condition the baby has, she would suggest that I move forward and do genetic testing. She told me that if the baby does have Down syndrome with this condition, it would help us to get ahead of it and know how to move forward with the best interest for the baby’s care. 

I agreed to move forward with the testing. Scared, worried, and confused. I had to attend doctor appointments alone due to covid.

I had some paperwork I had to complete, and then she sent me to the lab for the testing. 

I waited a while and finally was called back for bloodwork. I did the bloodwork, and they told me it would be ready in one week. 

I walked to the car, and I finally got to cry. Still, at this point, I did not have full knowledge of what was wrong with our baby. I googled. And googled more. And cried. And cried more. 

I learned that fetal cystic hygroma’s occurs in 1 of 800 pregnancies, and 1 of 8,000 live births. The overall survival rate for fetal cystic hygroma is 10%.  I thought, how is this possible and how did this happen to our baby? What could I have done to prevent this? How was our baby doing perfectly fine six weeks ago, and we go from that to this? 

I was so sad and so scared. I was sad that I couldn’t do anything to help our baby, and I was sad that the baby could have something wrong and we didn’t know what it was or how to help. I was scared. I was scared for our baby’s life. I was scared of the unknown.