The Best Gifts Come in Small Packages

The following journal entry is my experience of my first pregnancy. Recent events (as you will read) have given me the reason to share my story in hopes that it will help others. By writing and sharing this, I feel a huge “secret” burden lifted off my shoulders.



It was mid-March and I was nineteen weeks pregnant. We were given the opportunity to visit a geneticist to talk about our family medical history and to learn of further testing available to expecting couples. We were told that it’s common to get the quad screen which tests for spina bifida, Down syndrome, and other chromosome abnormalities of the fetus. We decided to get the testing done.

After a special ultrasound and a series of blood work, we were called into the geneticist to discuss the results of the testing. She explained to us that one woman in seventeen with the same test results as mine would have a baby with Down syndrome. Kent and I both know wonderful people with Down syndrome in our lives, but it is not the news you ever dream of hearing. She explained that the only way of knowing for sure would be amniocentesis. Amnio has a one in hundred chance of miscarriage, but because we were so worried about this we felt it was worth it. We would at least be prepared when the baby was born. I left the office praying to God to let me be one of those seventeen women!

The procedure was more uncomfortable and nerve-wracking than painful. Kent held my hand and I relaxed. The placenta was in front so the doctor did his best to avoid it with the long needle. In the waiting room afterwards I talked to my mom on the phone; I was relieved at the ease and success of the procedure.

Waiting for the results was an emotional rollercoaster. To add to the situation, we received a phone call that Kent’s grandfather Tage passed away and would have his funeral that weekend. Kent left for Nanaimo and I stayed behind to recover. I was given so much support by those I love, but I still cried and worried more than ever.> Kent was unable to go to my next doctor’s appointment so I went alone. My doctor told me that she had received the results of my amnio. I’ll never forget what she told me, “There was no Down syndrome found, but the results were not completely normal. The baby has mosaic Turners syndrome.” I had no clue what Turners was and it sent shockwaves through my body. I drove home with tears of fear running down my cheeks. With a google search I saw a grim picture: short stature, broad chest, low hairline, low-set ears, reproductive sterility, absence of a menstrual period, obesity, webbed neck, coarctation of the aorta, horseshoe kidney, visual impairments, ear infections and hearing loss. Over the next two weeks I felt a range of emotions: terrified, trapped, shocked, disappointed, embarrassed, guilty, scared, worried, and every other emotion you could imagine. I mainly cried about knowing that my daughter would most likely never have the opportunity to have children of her own (in the traditional sense).

At a later visit with the geneticist we learned that Turners syndrome is a mistake when the cells were dividing. It is not genetic; it’s all by chance. For some reason, one of the x chromosomes are absent from each cell in the body. If a child has mosaic Turners then only a certain number of cells are missing a chromosome. There is no way of knowing which symptoms of Turners will be present. Most commonly, Turners patients have short stature (4’7 is the average height) and are unable to have children.

During the final months of my pregnancy I joined online support groups and researched Turners thoroughly. I read stories and met women who were dealing with similar and much more challenging cases. In the back of my mind I was always wondering what cells were going to be missing in my daughter and which Turners traits would be evident.

Her birth was unlike most first time pregnancies. She entered the world so quickly that we were all surprised. She was in the 1-5th percentile, weighing 5lbs 13oz and 18 ¾”. In the hospital she was looked over by two pediatricians. The only thing that was found was a heart murmur which wasn’t necessarily a Turners trait. One doctor told us, “If you hadn’t told me she was a Turners baby I would have never known.” When the doctor left, I couldn’t help but cry tears of joy. I hugged my tiny baby girl and was so relieved that the doctors believed she was as perfect as I had known all along!

I pushed to have the chromosome test redone. Brooke had her blood drawn and sent to Children’s Hospital to confirm her mosaic Turners. While waiting for the results I prepared to hear the same words again “mosaic Turners.” I prayed for that 1% chance that Brooke did not have Turners. I received a phone call from my doctor with the results of the blood work. She told me in a stunned voice that the results came back and were NORMAL! I couldn’t believe what I was hearing! NORMAL?! She was as surprised as I was. All I could say is that my prayers had come true.

Emotionally my pregnancy was the most challenging experience I have ever gone through. With or without Turners, Brooke will always be perfect in my eyes. Now I truly believe: the best gifts from God do come in small packages!