Isabella’s Story- A Prenatal Down Syndrome Diagnosis

Stephanie is an amazing mama who, while processing her daughter’s Down Syndrome diagnosis and subsequent heart surgery, also managed to finish her graduate degree.  Isabella has made her mama an even stronger woman, here’s her story, Isabella’s story that is, of a prenatal down syndrome diagnosis.

Where do I even begin? As I am sitting here starting to write, I can’t help but feel my heart starting to pound, feeling butterflies in my stomach, and my eyes well up with tears. But not because I’m sad, but rather anxious and excited to finally tell our little Isabella’s story. I became pregnant with Isabella in March of 2016. When we found out we were excited, we also have a 4 year old daughter, and we were so happy that she was finally going to have a sibling.

I was finishing up my first year of Graduate school when I found out that we would be expecting a new baby in December 2016. The first and second trimester went on with no complications, noting out of the ordinary, and everything seemed be going the exact same way as the first time.

Fast forward to my 20 week appointment, this is the appointment that the gender of the baby can be found out. My husband and I decided that we were not going to find out but rather have a gender reveal party for the whole family to find out if it was a boy or a girl.

I remember walking in and laying down while the ultrasound tech got ready, I was so happy that I was finally going to get to see my baby for the first time in a 3D ultrasound. As the tech was looking around I heard her say “Hmmm, that’s interesting” My heart immediately sunk, not because I thought anything was wrong but because I felt like the tech was being rude. Why couldn’t she keep her comments to herself? No mother wants to hear the words “that’s interesting” during any appointment. My husband asked what she had seen for her to make such a comment, the tech said that she found, what she thought looked like blood vessels laying across my cervix. I had no idea what that meant or why that would even be a problem. The rest of the appointment went on like normal until it was time to see my doctor. She was very short and to the point and said it looked like there may be some blood vessels laying across my cervix that could cause some trouble during the remainder of my pregnancy. And if I were to go into labor the baby would “bleed out” and would be stillborn. She also mentioned that the tech found what looked like a hole in the baby’s heart and she would be referring me to a specialist.

I was going for a visit that I thought was going to be joyous and happy. I had been counting down the days for this appointment because we would find out the gender of the baby. Instead, I left confused about the information the doctor had just given me.

The next couple of weeks till our appointment with a specialist seemed like an eternity. Finally the day came, it was July of 2016 and the specialist did find blood vessels covering the birth canal. This diagnosis is called Vasa Previa which is extremely rare and only happens in every 1 out of 2500 pregnancies. I was assured that this pregnancy could be safe with this diagnoses, however, having Vasa Previa would require me to deliver early at about 34 weeks to avoid going into labor losing the baby. The specialist also found a heart defect in the baby. When it was time to sit and talk with the specialist, she explained that the type of heart defect found (Complete Atrioventricular AV Canal) is seen in a high percentage of babies born with Down syndrome and she would like me to see the genetics counselor afterwards. She asked if I needed time to myself in which I said no because I still hadn’t processed the information she had just given me. I was thinking to myself, “this has to be a mistake, there is no way my baby has Down Syndrome. I’m only 30 years old there’s no chance my baby has Down Syndrome.

I remember getting into the genetic counselor’s office and just sitting there trying to be positive and smile like nothing happened. She asked if we know what Down Syndrome was and starting talking to us about “options” we could have with this pregnancy. I was really paying any attention to her because I knew that my baby did not have Down Syndrome. She told us that there was a family in town that has a child with Down Syndrome that we could talk to if we had any questions but I told her we would let her know if we wanted to contact them.

The counselor told us that we could have an amniocentesis done to find out if the baby tested positive for Down Syndrome or there was another option of taking a blood test that would determine if I was at high risk or low risk for having a child with Down Syndrome. And on August 3, 2016 I choose to take the blood test. I left that office feeling as though I wasn’t in my own body, I felt like I was watching a movie, as if though I was in a dream. I broke down crying in my husband’s arms and so confused and angry with the doctors. Angry that they would even think that I would have a baby with Down Syndrome. They next 6 days were the longest days of my life waiting for my blood test results to come back.

On August 9, 2016 I received a call that would forever change my life. I was at home getting ready to make dinner, potato skins because that’s what I had been craving, when I received a call from the genetics counselor. I was at home with my 4-year old daughter. It must have been sometime in the late afternoon because my husband was still at work. When I answered the phone the counselor told me that she had gotten my test results back. She said it concluded that I was at High Risk. I asked her what percentage of high risk and she said 95% chance the baby would have Down Syndrome.

My world came tumbling down at that moment I told her I was going to call my husband to let him know the news. I never talked to that genetics counselor after that. I remember my knees buckling and hiding in the bathroom so my 4-year old would not see me. I didn’t want to scare her. I called my husband and told him the news and he rushed home from work that day to be with my. I can’t explain the emotions I had running through me that afternoon, I was angry, I was sad, I was confused, and I was mad at God for allowing this to happen to this unborn baby.

What kind of life was she going to have? Would she ever be accepted by society? Was she going to be bullied? I didn’t want to put my child through this and she didn’t deserve this. I was angry at myself for the longest time wondering why God would allow this child to have a hard life. Why would He allow her to go through open-heart surgery in the first 6 months of life. I felt as though life had failed me, as if though I had failed my unborn daughter.

I didn’t think I would be strong enough to have a child with a disability.

The next 2 ½ months were somewhat of a blur, I had doctors’ appointments twice weekly to keep an eye on my condition as well, the Vasa Previa. On October 14, 216 I was admitted into the hospital at 32 weeks pregnant. The doctors did not want to take a chance of me going into labor with my Vasa Previa diagnosis. The plan was to deliver the baby on October 27, 216 at 34 weeks via C-section. However, I developed pre-eclampsia during my time in the hospital. I was on bed rest for 10 days before the doctors decided we couldn’t wait any longer.

On October 24, 2016 at 12:21pm, Isabella Elisa Saavedra was born, via C-section, at 33 weeks weighing 3lbs 9oz and 15 inches long.

The doctor lifted her up just for a couple of seconds so I could get a glance of my precious baby before they whisked her off to the NICU. I had some complications during the procedure and I lost 1.5 liters of blood during the delivery. The doctor was really concerned for my safety and said it was possible that I would be a blood transfusion because I had lost so much of my own blood. Thankfully, after I was sent to recovery my body bounced back from the blood loss although I was still considered anemic. My husband was the first to see Isabella and he took pictures of her for me to see while I was in recovery. That same night I was wheeled down to the NICU so I could finally meet my little miracle.

She was so tiny, she had tubes and wires coming out of everywhere but when the nurse put her on my chest all my worries faded away. In the back of my mind, there had always been the hope of there being a 5% chance that she did not have Down Syndrome and I still held onto that hope as I held her. A week or two after she was born, free cell tests, concluded that she did have Down Syndrome. I already knew that she did but I was still holding onto the hope that the test results would come back negative.

Isabella stayed in the NICU for 3 months, exactly 90 days. The hardest part was having to go home every night without my baby all while trying to cope with her having Down Syndrome. I immersed myself into educating myself and my husband about Down Syndrome, I reached out to local support groups. The Rio Grande Down Syndrome Network brought a basket to the hospital as a welcoming gift for Isabella. I never knew this world existed before, having a child with Down Syndrome has opened up a whole new world to me and my family. We are part of the lucky few!

Before Isabella left the NICU she had to have surgery to get a g-tube and for an umbilical hernia repair. Fast forward to 6 months of age, we had to begin preparing ourselves for her open-heart surgery. On April 24, 2017 Isabella went into surgery to repair her complete AV canal defect. She was on the by-pass machine for 8 hours. The surgeon came out to talk to us and told us the actual repair went well by her heart was not liking coming of the by-pass machine.

A couple of days after surgery, my husband and I were in the room with Isabella and her nurse when we saw the nurse go into a panic and shout out for the PICU doctor. The PICU doctor and another nurse came in rushing to the room and started doing compressions on Isabella. We were told Isabella’s heart stopped for about 30 to 40 seconds while we were in the room. I can’t even begin to explain the emotions of seeing your 6 month old flat line and seeing doctors doing compressions on her tiny chest. After that happened Isabella’s surgeon and Cardiologist doctors decided she would have another surgery to place an internal pace maker to help with her heart because her natural heart beat rhythm was not coming back on its own. Isabella spent 18 days in the PICU.

It’s been 2 months since her open-heart surgery. I can’t imagine my life without her. Looking into her little almond shaped eyes every day brings a joy into my heart that is beyond words. When I look at Isabella, I don’t see her diagnosis, all I see is her. She is going to have a lot to give to the world and she already does. I still have worries about her future and how people are going to treat her but those thought are far and few between. She is such a joy to our family and I can’t wait to share her story with the world.

 

Stephanie and her family call Albuquerque, New Mexico home.  When asked about herself this is what Stephanie says…

About myself: When I found out about my pregnancy I was just finishing up my first year in Graduate school. When I had Isabella I was in my second year of Graduate school. Having a child born premature and spending 90 days in the NICU while going to school full time was the hardest things I have ever had to do. Isabella had her open-heart surgery 2 weeks before I graduated with my Master’s degree in Social Work. Thankfully she was able to attend my graduation. She has given me so much motivation in these past few months and I am so grateful for the joy she has brought into our lives.

You can follow along Isabella’s journey on instagram @steph_anie31