gene mutation

‘The monitor went crazy. Suddenly, there was a half dozen doctors in the room, bagging my son. ‘I’m going to watch him die, aren’t I?’: Boy diagnosed with rare Sturge-Weber Syndrome, ‘A birthmark changed our life’

“He was hitting his milestones. He was happy. He was supposed to beat the odds. One evening, we noticed he wasn’t himself. He wasn’t making eye contact and was whimpering non-stop. We thought it was the heat, so we gave him a cool bath and went to sleep. The next morning, his face turned blue before my eyes. He went limp. The ambulance came and took Noah away. I couldn’t believe it. My baby wasn’t my baby anymore. Watching him fight made me so strong. For him. For us.”

‘Did she stick her finger in the power socket?,’ strangers asked. They were being ignorant, insensitive.’: Little girl embraces ‘fuzzy’ hair caused by Uncombable Hair Syndrome, ‘I look like a lion with a crazy mane’

“She was picture perfect, blonde hair, blue eyes, so cliché. But around 3 months, we noticed something different. Her hair was growing straight up, not flattening down. It glistened in the light. ‘What’s wrong with her hair?’ Complete strangers would peer into her stroller, stare, take pictures without asking. One lady said, ‘Your daughter looks just like Doc Brown, the crazy scientist from Back to the Future!’ Our little girl was so special.”

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