I blinked and everything felt different. One moment I was holding my perfect newborn, then suddenly everything felt like everything was slipping through my hands as I heard the doctor tell us she had a positive newborn screening for a rare genetic disorder.
A rare genetic disorder.
She was four days old, and we were getting ready to leave the doctor’s office after her routine check up. I was scheduling her two-week checkup at reception when the doctor approached and asked us to follow him. I was confused, I didn’t know what was going on. I remember thinking he was going to show Sissy something, and then I saw the earnest look on his face. Something felt off.
We followed him down the hall to an open office. The next few minutes are both a blur and forever etched into my mind.
“I just got a call from the state,” the doctor began. For a split second I had flashes of the CDC calling to say someone at the pediatrician’s office had exposed us to the measles or worse. (Yes, I watch too much TV.)
As I tried to focus on what the doctor was saying I realized he was telling us that the state called about our daughter. Our baby had tested positive for something on her genetic screening at the hospital.
My head was spinning. I tried to listen. I had a million questions. I tried to breathe and choke back the tears.
“What did she test positive for?”
“What is that?”
“What does the mean?”
“What is her prognosis?”
I glanced at my husband. He was crying. I lost it.
The doctor explained that more tests needed to be run. It was just a positive screening. It could be a false positive.
I asked if false positives were common. He said no, but a true positive is also not common.
I offered her blood. I asked if he could take her blood right now and get it tested. He started talking about consulting a geneticist and having the tests administered at the children’s hospital.
The room was spinning, our five year old kept asking me, “Why are you crying mommy.” Over and over. My husband was a wreck.
We left with no answers, but the doctor promised to call when he had more information about our next steps. For now, we were to go home, and we were under doctors not to Google.
I tried not to Google, but by dinner I had abandoned those orders.
The doctor called after the big kids went to bed that night. The geneticist recommended testing, and we could pick up the orders for the tests in the morning and get her tested right away.
At the hospital they needed blood and urine. I cried while they took blood from her little arm. Five days postpartum I was too weak to stand and help, so I sat and cried.
Do you know how they get urine from a baby? They tape a collection bag to baby’s bottom and wait. But if baby poops, the sample is no good. Over and over we taped a bag to my baby’s newborn bottom and waited. And over and over, she pooped.
After waiting for more than an hour, the lab was closing and we were sent home with three more bags. We would have to collect at home and return the bag to the lab the next day.
I cried every time we peeled the bag from her bright pink, raw skin and stuck on a new bag, and so did she. Finally, we had success with our last bag.
Now the only thing left to do was wait.
I am not a good waiter. I cried – a lot. I was neurotic about germs, which is not helpful when you have two other children. I was afraid of everything.
Over and over I thought back to that moment in the hospital when I signed consent for the heel prick test. I asked the woman what the test was for, and she had no clue. I remember her fumbling with her papers looking for an answer. She acted like no one had ever asked that question and could only tell me it tested for 54 things.
I had no way of knowing one of those 54 things would be so significant to us.
Not knowing and waiting for answers is excruciating.
Finally, three weeks from that doctor’s appointment we got the call we had been praying for. All three panels came back in normal ranges. It was likely a false positive.
For the first time in three weeks, I could breathe.
A week later – four weeks from the initial day in the doctor’s office we finally got confirmation from state that our daughter’s results were indeed a false positive. Her case is now closed.
Baby girl is officially as healthy as she has always appeared to be.
Do I wish we could have avoided a false positive? Absolutely. But now we know for certain she does not have any of the 54 rare genetic disorders that Florida screens for. And that is an unimaginable relief.
Best. News. Ever.
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