Stories of Prenatal Diagnosis: J. K.

A prenatal diagnosis is often accompanied by the pressure to abort, leaving most parents feeling unsupported by the medical community and society at large. In our series “Stories of Prenatal Diagnosis,” we share testimonies of parents who received a diagnosis while pregnant and their personal experience in handling it. Today’s story is from “J. K.”

What conditions did your screening results indicate?

Spina Bifida.

Did it turn out to be the case that your child had these conditions?

Yes.

Please tell your story of your experience in your own words. 

I learned at the 20 week scan (really at 21 weeks) that my daughter had spina bifida. I was told I should get an amniocentesis as other disorders were common with this type of diagnosis.

I had my 12-year-old stepdaughter in the room with me. The ultrasound took longer than usual. The ultrasound tech did not tell me that she spotted anything abnormal. She left and said that the doctor would have to review. She came back to the room with a doctor. 

The doctor immediately asked if I wanted to grab my husband. I immediately knew that something was wrong or off. The doctor then told us the diagnosis. She didn’t seem sure of the diagnosis. It left us feeling a bit confused. It left us feeling slightly hopeful that they were wrong. They told us that we could see a genetic counselor but we would have to wait an hour and a half. 

For an hour and a half we waited outside in our van. We spent the next hour researching spina bifida. I went to a food store that was close by and bought some folic acid. The genetic counselor told us that we had options, including termination. She told us that she would recommend an amniocentesis. We could also go to Philadelphia and get an evaluation to see if we are candidates for fetal surgery. She scheduled the consultation with CHOP that day. 

CHOP called us back within a couple of hours. Our appointment was two weeks out. I feel like we didn’t have a clear answer on what was going on until we had that appointment. CHOP was able to tell us where the lesion was on our daughter’s spine. We were not candidates for fetal surgery. We came up with a plan almost immediately to continue care through CHOP. We delivered at CHOP. And all of our daughter’s care has continued there regardless of the fact that it is six hours from our home.

She is five months old now and presents as an almost typical baby. She did have surgery on day one for spinal closure. She has not required a shunt. She hasn’t needed any other major interventions.

Looking back, I feel like we were given the worst case scenario. And today I feel like we have the best case scenario. We obviously are still monitoring for hydrocephalus, and she still requires more medical care than a typical baby. 

What aspects, if any, did you like about the way your medical team handled the situation?

They told me from the start they couldn’t say how it would affect my baby. (How severe her case would be).

What aspects, if any, did you dislike about the way your medical team handled the situation?

They told me WITH my 12 year old step daughter in the room. They told me the worst case scenario. They asked me multiple times if I wanted to abort the baby.

What recommendations do you have for medical providers who are giving parents prenatal screening results?

To share clearly best case, and worst case scenarios. To only bring up termination one time during the process, if at all.

What recommendations do you have for parents who are receiving prenatal screening results?

To do your own research. Not believe everything the medical provider is telling you. Get plugged in with a support group that has experience with the condition that your child has been diagnosed with. Prepare for the worst and hope and pray for the best. That this is the beginning of a new type of thinking and life. Take one day at a time. Make sure that your support system is strong.

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