Genetics

I remember when the NICU team first suggested a genetics consult for Caleb.  I felt my world wobble. Genetics? You think he has a genetic disorder? In my experience as a parent I have not encountered anything scarier than a genetic work-up.

The genetics team came to see Caleb in the NICU and their job was to basically point out every single thing that seemed wrong. A new mother should be hearing things like “your baby is beautiful!” Or “look at how chubby those cheeks are” but all I could hear was “the way his thumbs are bent is abnormal” and “he’s mildly hypotonic” and “subtle dysmorphic features.”  Those words never leave you, especially when you hear them in the early postpartum days when your emotional state is fragile at best.

The anxiety I felt from having genetics comb over every square inch of Caleb’s perfect little body and go through an extremely detailed family history for both my husband and I was hardly bearable, on top of the baseline high level of anxiety I already felt from having my baby in the NICU.  When the genetics team recommended whole exome sequencing, my heart nearly stopped.  This is the incredibly detailed, intense genetic testing that is done for patients who are born with life threatening congenital anomalies.  My baby with slightly different thumbs and difficulty feeding would even qualify for this testing?!  My world was shaken.  They wouldn’t recommend this testing if they didn’t think there was something wrong, right?  This test costs more than $50,000.  While I appreciate the careful attention to detail and airing on the side of caution that Caleb’s medical team displayed, this genetic work-up was an enormous hit to my mental health as a NICU parent.

I wish that someone from our medical team had sat with us and talked about the purpose of a genetics consult and what to expect.  Being a medical professional myself, my brain jumped to the absolute worst case scenario, and it was nearly impossible to bring myself back to reality after my brain had already gone there.

As a medical professional, I would absolutely have recommended a genetics consult for Caleb while he was in the NICU.  It could help put the team on a track to get him home sooner, and it is so convenient to have a consultation while you are already sitting there in the NICU all day every day.  The more specialists who can weigh in the better ..... Says the side of my brain that is a NICU pharmacist.

As a parent, that genetics consult did nothing but increase my anxiety and stress while we were in the NICU.  In hindsight, I would have deferred the consultation and waited until we had a better handle on things, and I had a better capacity to take on more unknowns.

I have learned the troubling reality that in this era of advanced medical diagnostics, more tests often leads us to more questions, rather than answers.