genetic disorder

‘My hands were shaking as I gripped my son’s tiny hand in the backseat. ‘Just hurry up and get to the hospital.’: Mom’s confusion after ‘idyllic’ newborn’s rare Congenital Adrenal Hyperplasia diagnosis

“Talk about nerves. ‘He’s a calm little guy!,’ my OBGYN assured us as they whisked him away to be washed and weighed. It was love at first sight. Then, just a few days before celebrating one month on this earth with our son, we underwent an intense baptism into a new, unimagined kind of parenthood. Our son was diagnosed with a rare genetic disorder.”

‘No eyebrows and eyelashes,’ she said. I hadn’t noticed his lack of hair. She ran her hand across his sweet face. There was a concern.’: Mom learns of son’s rare CFC syndrome disorder, but keeps ‘pushing forward’

“Our midwife came in and hugged me. ‘How are y’all doing?,’ she asked. It was all too much. What did she mean by ‘abnormalities?’ I stopped her and asked. That’s when the rest of the conversation disappeared from my memory. I would NEVER let this define Nolan.”

 Share  Tweet