Our Daughter’s Birth Defect and How We Coped


In my 13 years of marriage, I’ve had 7 pregnancies and 4 children.

Pregnancies and Miscarriages

In the beginning, pregnancy was difficult to achieve. I was very eager to become pregnant yet there was a year’s delay. My first pregnancy ended with a miscarriage at about 8 or 9 weeks. It was a very traumatic and depressing event. It took another year for another pregnancy to take place. I experienced a threatened miscarriage during my second pregnancy, but thankfully it all ended well and we were blessed with our first born. My third and fourth pregnancies both ended with miscarriages. And my 5th pregnancy came at a very difficult time. My husband and I had just moved overseas, we were both adjusting to a new life. The pregnancy was a pleasant surprise, yet my body was not at optimal health. I was stressed and exhausted. 

Ultrasound News 

At the 20 week ultrasound, I was hopeful to get the good news of a healthy baby. But when the technician took an exceptionally long time I knew something was wrong. However, the technician didn’t tell us anything and we had to wait to see the doctor a few days later to go over the outcome. The results were vague, and a second ultrasound was ordered. This time it was performed by a doctor and he was able to explain things to us as he went along. He had a very calming presence and he assured us that all is well and there was nothing to worry about. The echogenic intracardiac focus that was seen on the heart did not necessarily mean anything.

We took that news gladly and we dismissed any doubts that the previous ultrasound had caused. We had high hopes for a healthy baby and the pregnancy continued with ease. The birth was very quick and easy–we even went home on the same day. It wasn’t until the two weeks check-up that we started to have doubts again. Our daughter was dealing with jaundice, she wasn’t growing much, she was spitting up a lot, and at the checkup, the pediatrician took an exceptionally long time listening to her heart. When I asked her if something was wrong she said she thought she heard something but when she listened again she realized it sounded normal.

Birth Defect was Three Heart Defects

Two more weeks passed, we chose a different pediatrician for her 1-month checkup. It took him seconds to listen to her heart before he looked at us in alarm and referred us to a cardiologist. 

It was a long ordeal after that. In the span of a few weeks, we met with a pediatric cardiologist, a geneticist, and a nephrologist. They were the most stressful days of our lives. 

The cardiologist discovered three heart defects. He explained them to us and put a course of action in place. He would wait a few months before deciding on surgery as the issue could possibly resolve itself. She would need regular checkups with him and medication. In the meantime, he advised a karyotype screening as it is routine procedure whenever a heart defect is discovered. My husband and I laughed at this suggestion. Our daughter looked normal to us but we still went ahead and did the blood test. Every step was difficult. Our 2-month-old daughter cried through it all. The EKG, the heart ultrasound, taking the medication, collecting the blood sample, etc…

Genetic Diagnosis of Heart Defect

When the blood test results came in, my husband went to pick them up alone. I was so sure that the result of the karyotype would be normal that I didn’t think it was important to go with him. I had the shock of my life when I heard that a genetic disorder was discovered. Our daughter has Turner Syndrome

I remember thinking “What the heck is that?!!!”. I googled it of course and got the worst possible images and possibilities. My heart ached as I had no idea what to expect and the world suddenly seemed unbearable. We met with a geneticist the next day. He explained it all to us and helped us understand.

It took a while to fully understand it all. One day we were happy to be leaving the hospital after an easy pregnancy and a very easy birth, and the next we are facing something unknown and full of worry over our little baby’s future. But eventually, we learned to cope and to enjoy our daughter. 

A few things that helped us cope with the birth defect

  1. Faith: I believe God does not give us something we cannot handle. That belief reassured us that we were chosen to be her parents for a reason and she was chosen to bear this because she could handle it. 
  2. Family support: Our family was around us instantly, giving their love and support. Praying for us and reminding us of all there was to be hopeful for. 
  3. Our daughters: We had to be strong for them both. 
  4. Community: Talking to other parents who have been dealing with a similar situation helps put things in perspective. You may realize that your problem is not as difficult as what others are facing, or gain strength and wisdom through other people’s experiences.
  5. Staying positive: Focusing on what can be done to help ease the situation is better than looking at what can’t be had or done. 

Today, our daughter is almost 8. I had strongly doubted that I would have more children after her but we were blessed with two more healthy children. She is a strong older sister with a very sweet and kind personality, everyone who meets her instantly loves her. She still doesn’t know her full diagnosis, we choose to share with her that which is appropriate at each stage of her life. Turner Syndrome does not define who she is, it’s just something she has.