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The call came on January 6, 2011, at 12:42 p.m. Our son had Trisomy 18. Little did I know what this would mean to me and my family 3 and a half years later.

My husband and I discovered that we were pregnant for the fifth time at the beginning of October 2010. It had been a rough year in our family with the deaths of grandparents and a miscarriage, so we were excited to welcome a new baby into our lives.

Our first doctor visit verified that we were indeed pregnant and things seemed to be going well. Our first baby was also born with Trisomy 18 and was with us for 9 hours before passing away, so at the recommendation of our doctor and to ease our own anxiety, we set up an appointment with the high risk doctors.

Trisomy 18 is caused by an error in cell division, and it occurs in approximately 1 in 2500 pregnancies. Almost 70% of unborn babies diagnosed with this condition are stillborn, so 1 in 6000 babies born have this diagnosis. The babies born living only have a 50% survival rate at 1 week of age and only 10% will celebrate their first birthday.

The appointment with the high risk doctors did not go as planned. I was not as far along as the doctors thought, so genetic testing could not be conducted. They tried to see what they could, but the baby was too little to see any potential defects. It didn’t help that we were told to come with an empty bladder when in fact I needed a full one!

The appointment was rescheduled for two weeks later in hopes that conditions would be optimal for genetic testing and to see our little peanut! This was the point in our story that my fear began. I tried my best to ignore it and think positive, but deep down I feared that these were all signs that something was not right.

I vividly remember lying on the exam table the week after Christmas as the ultrasound technician scanned our baby. She asked questions about our first son; the defects he had on ultrasound, and defects they found after he was born.

She didn’t have to say it, but I knew why she was asking; something was wrong with our child.

The doctor came in and informed us that our baby had a club foot and nuchal fold thickening. A club foot is a deformity in which the foot is turned inward. Nuchal fold thickening is thickening of the tissue at the back of the neck.  Both of these are considered possible signs of Trisomy 18.

The doctor was optimistic and said that these abnormalities can be seen in healthy babies as well. I feared the worst and prayed for the best as we awaited the return of our test results. 

The initial "quick" test results came back within 48 hours. The results from this test were 95% accurate and said that our baby was a healthy boy!

But I couldn't shake the feeling that something still wasn't right, so I insisted that the genetics counselor call the lab and confirm the accuracy of these results. We were assured that the test was 95% accurate. Little did we know that the wrong test had been performed. We awaited final results hoping and praying that our son was indeed healthy.

The call came on January 6, 2011 at 12:42pm. Our son had Trisomy 18. I was sitting on our bed as the doctor uttered those words; the words that sent our entire lives into a tailspin.

We went in to have another detailed ultrasound done, and the comfort care team was there to have us sign our son's DNR (Do Not Resuscitate) order. We were also told that it would not be recommended to have a cesarean section if our son was in distress.  They discussed terminating our pregnancy since this diagnosis was "incompatible with life". We politely refused termination. We wanted to do everything we could to keep our son comfortable and to spend as much time as possible with him as a family.

I went into "do" mode. I called doctors to set up appointments to discuss a plan of action. I called family to notify them of the news. I sat our sons down (then 2 and 5) and talked with them about their baby brother having something called Trisomy 18. I told them that this meant that he was very sick and that we just needed to love him a lot. We added to this explanation as time went on, but we felt it was best to keep it simple at first. I also began planning his funeral and a short life. We tried to prepare for all of the "what-ifs" that we could before he was born.

Little did I know that this amazing little boy had a much different plan in store for our family! We definitely did not make plans for him to still be living three and a half years later.

Looking back, I wish I would have reached out and found the support that I have now. I might have had more hope and been able to enjoy the amazing life growing inside of me instead of fearing his death constantly and crying at every alone moment I had (which typically occurred while driving). I might have been able to educate our medical professionals about children living with this condition; children that are definitely not "incompatible with life".

My desire the last three years has been to help families receive what I needed after our son's diagnosis: honesty, hope, and a willingness to see him as an individual - not a diagnosis.

Terra Garst

Terra has lived in Omaha her entire life with her husband and four sons. She enjoys being a stay-at-home mom and driver for all her children's events. She is a nurse and uses creativity to get things done! Terra is Nebraska's state chapter chair for Support Organization for Trisomy 18, 13, and related disorders (SOFT) as well as their prenatal outreach contact. She also volunteers for Hope for Trisomy. ...

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