Stories of Prenatal Diagnosis: Lauren Kildea
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 Lauren Kildea.
What conditions did your screening results indicate?
Bilateral clubfoot.
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.
We found out at our 20 week ultrasound/sonogram that our daughter had bilateral clubfoot. At the time, everything else looked fine but we were bumped up to the monthly checks with a high risk maternal fetal medicine doctor.
As the months went on, other red flags came up — she wasn’t moving very much and her hands were clenched shut. We declined genetic testing and while we were told that we had the option to terminate, it was very subtle and maybe one time. This was likely because there wasn’t a definite diagnosis and it could have been nothing or something terrible.
Around 32 weeks, they did a more in-depth scan and determined that she wasn’t practicing her breathing and wasn’t showing any tone. That was considered failing the biophysical profile and they decided to monitor me for 24 hours, then deliver via C-section.
Emily Grace came out with the expected bilateral clubfoot, clenched fists, very low muscle tone and needed help with breathing and sucking. They weren’t sure whether it was due to her being a preemie at 32 weeks or whether it was due to other underlying conditions.
After 50 days in the NICU, we brought her home on a feeding tube and on oxygen. Doctors had no idea what to expect — initial genetic tests showed two variants of undetermined impact. We were hopeful that as she got bigger and stronger, she could improve.
She ended up going into cardiac arrest ten days after we brought her home — it was in the middle of the afternoon on Father’s Day — luckily she was attached to two monitors so we knew right away that something was wrong and my husband and I were both there to call 911 and do CPR. The EMTs told us we did everything correctly but they were never able to get her heart restarted.
About a year later, thanks to the wonderful researchers at NIH who enrolled us in a study, we got a diagnosis of a de novo mutation on her snap 25 gene — she was one of less than 30 known cases at the time and was one of the more severe cases.
What aspects, if any, did you like about the way your medical team handled the situation?
They never pressured us about abortion.
What aspects, if any, did you dislike about the way your medical team handled the situation?
Hindsight is 20/20 but I often wonder if she would have done better if she hadn’t been delivered early.
What recommendations do you have for medical providers who are giving parents prenatal screening results?
Don’t push abortion.
What recommendations do you have for parents who are receiving prenatal screening results?
Make sure they know that doctors are wrong ALL the time. I’m in a few infant loss groups on facebook and a NICU group as well and the stories are amazing.
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