genetic disorder

‘Baine woke up crying about stomach pain. He was making whining noises, his eyes not tracking me. I hurried as fast as I could to the car.’: Mom raises awareness about OTC Deficiency in honor of late son, ‘He was the answer to other prayers’

“I made him toast and got him a coke. He seemed better. We talked for a minute and he fell back asleep. His eyes were no longer tracking me. I hurried as fast as I could to the car, carrying Baine in my arms. Within 5 minutes, he was losing consciousness. He was making horrible noises in his seat. He was scared, but he couldn’t communicate. His brain was being slowly poisoned.”

‘Something is not right!’ One eye was smaller than the other, but doctors kept telling me he was okay. I knew I was going to have to fight.’: Woman gives birth to son with rare genetic disorder, ‘I have found my purpose’

“I lost over 30 pounds. I also lost my hair. I threw up constantly, even throwing up blood. Something inside me told me to keep fighting. When my son came out, he wasn’t crying. I knew that moment something was wrong with him. Nobody was listening to me.”

‘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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