A High-risk Diagnosis

We finally had our high risk OB/GYN appointment. When given such shocking news at our 20-week appointment, it felt like forever between then and now. Our names were called. First, we went to the ultrasound room to get higher quality images so they could take a closer look at what was going on. After, they continued with the normal prenatal checkup.

The doctor then came into the room with a nurse that assisted him as he looked through our ultrasound photos. He had a concerning look on his face. He began to tell us there were multiple abnormalities that came across on our ultrasound. He said our baby had a defect on the heart, he possibility had sandal toe, and asymmetrical growth. He said he also had small ears, then paused and looked at our ears and said, “Actually, that’s probably not an issue.”

We asked what all of this information meant or if it pointed to a specific diagnosis. He said he wasn’t sure as it could be a number of things- Downs Syndrome, a heart defect, or possibly Dwarfism. I began to literally laugh out loud at this point. The past couple days had been a blur and now our son, who seemed healthy up to this point, could have a life altering diagnosis. How would we care for him? Would he be able to go to school? Would he have a happy and joy filled life or would it be a life full of suffering? I didn’t have the answers.

As my thoughts continued to race, the doctor asked to do blood work as it could possibly confirm our son’s diagnosis. We agreed. From there, the doctor began to talk about our options. He said our first option “given the circumstances of our pregnancy” was to terminate our pregnancy, as the “fetus” may not be viable. Our immediate response was “no”. We made it clear that, regardless of the diagnosis, we would be continuing our pregnancy. His next option was amniocentesis to give us a definitive diagnosis for our son. After learning the risks of that we decided at this point in our pregnancy we would not want to go through with that test. We would wait for our blood work to come back.

Leaving that doctor’s appointment, I remember thinking how I never thought I would be asked if I wanted to terminate my pregnancy. Do I love my son any less because he is sick? No, I love him more. I am his Mom and I need to be strong, regardless of his diagnosis. I scheduled my next appointment for a couple weeks out and asked to switch to the other high risk OB/GYN because I wanted a second opinion.

At my next appointment, we met with the other OB/GYN. I felt as if the previous doctor wasn’t straightforward nor did he have any answers to our questions or concerns. I felt as if he was painting this picture of happy endings, but I wanted reality. I wanted the truth no matter how devastating or scary it could be. Our son was sick and he needed the best care possible. It was the same routine at this appointment- ultrasound, prenatal checkup, and then follow-up with the OB/GYN.

She came in and once again there was a look of concern. I knew she didn’t have good news. She had the results of our blood work and it had come back inconclusive. This meant that not enough of our baby’s DNA had crossed through mine, which was concerning because this should happen much earlier in a pregnancy and I was already past 20-weeks. She moved on to say that the multiple abnormalities pointed to a more serious diagnosis. Typically, with Downs Syndrome or Dwarfism, there is only one abnormality in the ultrasound. With the multiple abnormalities there was a possibility that my pregnancy was “lethal.”

Lethal? What did that mean? She was making it sound like my baby was a ticking bomb and could go off at any minute.

She then gave us the same two options as the doctor we had previously seen. We once again said "no" to both. We would be continuing our pregnancy regardless of the diagnosis. She gave us information on a program in Des Moines called S.H.I.N.E. They work with families whose unborn babies are given complex diagnoses. They provide an additional layer of support during the pregnancy, birth and beyond. She asked if I was continuing to see my regular OB/GYN near my home. I told her that I wanted to switch to an OB/GYN down in Des Moines as I wanted to be able to go to the appointments on the same day and have the doctors be within the same health system so that everyone was on the same page. She gave me a suggestion for an OB/GYN she thought we would like as I didn’t know any in the area. She said that I would need to see them for my prenatal care and that they would be delivering our baby as well.

She again brought up the amniocentesis test. She said this is a very important test that could possibly save our baby’s life. She said there are various places she would send us for the birth, depending on the diagnosis. Based off the tests, she wasn’t sure where she would have us go. Colin and I both thought it would make sense to go through with this test. We didn’t want to do it for any other reason besides the possibility of saving our son’s life. It was a really hard decision to make because a risk of this test is the possibility of miscarriage. When we left that appointment we scheduled a follow up to do the test.

Amniocentesis/Diagnosis

Colin had been to all of my doctor’s appointments through my entire pregnancy with Kolbe. After leaving the previous appointment they made the amnio test sound like it would be a quick in-and-out appointment and wouldn’t take much time at all. I told him I could go to this appointment by myself since it probably wouldn’t take long anyway.

I arrived and was escorted to an exam room. They had me get ready to go into a private room where they would conduct the test. I sat in the room nervous and wasn’t sure what to expect. I told myself after my 20-week appointment that I wasn’t going to be Googling anything because it would freak me out, so I really did not know what to expect with the amnio test.

The doctor came into the exam room and asked where Colin was. She asked if he would be coming to the appointment at all as this may be a scary test to go through alone. I thought to myself, “Well that would have been great to know given everyone here made it seem like it was not a big deal!”

I laid back in the table of the ultrasound room. They lifted my top up over my belly. My heart was racing. I saw the needle they would be using. The tech began the ultrasound and Kolbe popped up on the screen. My eyes were filling up with tears, but I knew I had to be strong. The doctor said, “It’s okay, honey.” She inserted the needle in my belly, then into my amniotic sac so she could remove some of the fluid. The tech was there as a guide to determine a safe location for the needle to enter. They filled the needle with a sample of amniotic fluid they would be sending to a lab for analysis. They would call us when they had the results.

After the test, the doctor told me to take it easy the rest of the day and not to do anything too strenuous. If I had any spotting or discomfort she wanted me to give them a call.

I left that appointment feeling numb.

This was not what I was expecting for any of my pregnancies, especially my first. I told myself that everything was going to be fine. I prayed for peace of mind, heart, and soul. I prayed to God for strength.

At this point, all we could do was wait.

Please check back for Kolbe's Legacy: Part Three, coming soon.