After the initial diagnosis of bilateral cleft lip and palate at the 20 week ultrasound, our obstetrician suggested that we speak with a geneticist right away to learn more about the genetic implications and chromosomal “anomalies” associated with clefts. The doctor suggested this all be done immediately because we would not have the same options under the law after 24 weeks. Although I don’t recall whether he ever actually said the words, the meaning was clear: have an amnio so you can decide whether to terminate the pregnancy.
My husband and I were in such a fog that we got on the wrong train going home that day. My husband didn’t want to see a geneticist and wouldn’t even consider getting an amnio. This surprised me a bit because we’ve both always been very strongly pro choice. The thing was that Kaden was not a concept or a political principle. Kaden was his baby and he already felt strongly connected to him. He never wavered in his belief that Kaden was meant to be with us.
I didn’t know how to feel. I wanted to know but I didn’t want to know. The enormity of the decision we were about to make was staggering. Paralyzing.
I decided to see the geneticist and was not entirely sure my husband would be there until I saw him in the waiting room. I had a few questions that I needed to ask, the most important of which was whether there would be anything we could do in utero to help Kaden if an amnio detected a problem. The answer was no. Score one point in the “no amnio” column.
In a nutshell, the geneticist explained that in approximately 80 percent of cases a cleft is an isolated anomaly and there are no other issues. In roughly 10 percent of cases, cleft babies have one or more significant genetic anomalies that can have a wide spectrum of severity. Finally, in another 10 percent of cases there is a chromosomal anomaly such as Down Syndrome, Trisomy 13 or Trisomy 18, all of which can cause severe mental retardation, physical retardation and/or death. Although an amnio would be useful in identifying chromosomal and/or genetic anomalies, it could not rule out all potential syndromes or impairments. Also, the amnio would not indicate the severity of any conditions it detected, only the mere presence of the anomaly.
Prior nuchal transluceny screening, which was done at about 12 weeks, indicated that Kaden’s risk of Downs Syndrome, Trisomy 13 and Trisomy 18 were approximately 1 in 10,000, a very low risk level for my age. The geneticist told me that the presence of the cleft invalidated those results. Basically, Kaden’s cleft made it far more likely that this pregnancy would be that 1 in 10,000.
After wrestling with the million conflicting thoughts and emotions that flooded my brain as we sat in the geneticist’s office, I apologized to my husband and said I hoped he understood that I just needed to have the test (he did). I signed a consent form and waited with my husband for the doctor to call my name. My heart raced. I began sweating and felt the first pangs of a panic attack. I grabbed my coat, told the nurse I’d changed my mind and practically ran out of the office.
I never looked back. Not once. As difficult as not knowing would be, deep down I felt the same way my husband did. I desperately wanted to have the test and receive positive news. But what if the news wasn’t good? Well, I knew that I still wanted to have Kaden but I didn’t know if I could bear another 4 months of pregnancy, labor and delivery under the tremendous weight of a Down Syndrome or Trisomy diagnosis.
For the first time in my life, I had to completely surrender control of my fate to the universe . . .