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‘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, I’m serious. He shot me.’ My husband was lying completely alone on the ground. He dragged himself away from the door. There was nothing I could do. Absolutely nothing.’

“My husband said, ‘I tried calling Ben, but he’s not answering. That’s not normal. Someone should go check on him.’ Ben has heart problems, he’s elderly. ‘I have a really bad feeling about this.’ They were not going to go inside because they knew he kept a loaded pistol next to the bed.”

‘I’ve never seen anything like this before,’ a nurse said. I could hear everything. I could hear the panic and confusion. But I couldn’t react. I wondered if it was me who was dead.’

“They were on video chat with a doctor from a different hospital. They told me something rare happened, something no one in this hospital has ever seen. This doctor was the only one who knew exactly what to do. It’s been 2 years, but today, we happened to be back at the hospital where he happened to be working.”

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