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.”

‘It’s time to let go.’ They wrapped him in his Superman blanket. Daddy held his little boy, for the last time.’: Couple lose first child to extremely rare YARS2 disorder, ‘Every single day we miss his smell, his little personality’

“This was no ‘ear infection.’ How could I not have known? The walk to the hospital was silent. When we got to his room, he was still warm. It was the first time we’d seen him without tape, monitors, and wires all over. He was absolutely beautiful. I cried and kissed his cheeks. ‘I’m so proud of you. You were so strong. Thank you for letting me be your mommy.’ I cuddled him like I did the first day he was born. I gave him one final kiss, and handed him to his daddy.”

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