A Surprise Diagnosis

Valentino’s was an uncomplicated birth…then the newborn tests started coming back with, at first, “questionable” results.

We were first made aware of the abnormal test result just days after going home with our newborn, Valentino.

5 days after leaving the hospital with our baby boy,  I received a call from a doctor requesting that we return to the hospital immediately due to an abnormality on Valentino’s newborn screening.

I tried to respond, but my mouth went dry and words escaped me. I’m certain I looked like a fish out of water, gasping for a breath.

I passed the phone to my husband, Piero. The doctor was less than thrilled to be passed along to another person and was very short with Piero.

Piero explained that I was very upset and tried to soothe the doctor and obtain more information from her. She, of course, was not allowed to disclose any information over the phone.

We raced to the hospital and were told that Valentino’s newborn screening came back positive for something called adrenal hyperplasia.

We were told not to panic. Sometimes newborn screenings show false positives.

We panicked.

Then we went home and Googled the genetic disorder. We became more upset and were given no support or direction from the doctor who delivered the potential diagnosis.

A few days later we received a letter in the mail notifying us that Valentino’s newborn screeing came back positive for Cystic Fibrosis. I dissolved into tears. Piero stayed solid and logical. He said, “Nothing is conclusive yet. We have to be strong. You are the strength in the family.” But I felt spent. Now our baby not only had adrenal hyperplasia, but also had cystic fibrosis?

We worried our way through the next several days until we took Valentino for a sweat test–the test which confirms Cystic Fibrosis.

We left the test center and headed straight for the pediatrician’s office for a regular check-up. As we were in her office, the Cystic Fibrosis sweat test results came back–positive.

We were, however, told that he did not have adrenal hyperplasia. There had been a mistake in filling out forms and an employee accidentally checked the box for adrenal hyperplasia instead of cystic fibrosis.

The young pediatrician who delivered the cystic fibrosis results stared blankly at us after she delivered the diagnosis. We choked back tears.

What stands out in my mind most and will probably always,  is the image of the pediatrician standing awkwardly with pale skinny arms hanging at her sides like a gangly wooden puppet.

I think if she had hugged me, I may have punched her. But, I wish she would have at least tried.