genetic mutation

‘I was giving my son a bath when I noticed 3 little pubic hairs. I got an ominous call from our pediatrician at 6:30 in the evening.’: Mom works to cure son’s Duchenne Muscular Dystrophy, ‘Where there is life, there is hope’

“The doctor abruptly gave Max a quick examination. WHAT?? Our world flipped off its axle. I cried incessantly. The overwhelming feeling of grief felt too much to handle. I said to my husband, ‘If anyone can cure this kid, it’s us! We were chosen to be his parents for a reason.'”

‘I kept asking, ‘Is my baby okay? Why has no one updated me yet?’ I don’t want to touch him. I don’t want to even look at him.’: Baby born with Cornelia de Lange Syndrome, ‘They avoid us like the plague’

“‘Termination should be strongly considered,’ was rubbed into my face. For 2 weeks after his birth, no one but myself and my husband were allowed to see Preston due to isolation. Our 2-year-old daughter wasn’t allowed to meet her new little brother. I didn’t ever go a day without having hope.”

‘They laugh when you flap your arms. They think you’re stupid. But you were created special on purpose.’: Mom of daughter with Rett Syndrome details emotional moment grandma’s love quiets her symptoms

“You see, my daughter’s syndrome doesn’t allow you to touch her face or hands. That day, I saw Ivy on the love seat with granny. They both leaned in, foreheads touching, and granny was holding Ivy’s hands and face! Ivy was SMILING and listening to granny quietly speak. ‘You are special. You are good enough. You are different…on purpose.’ No matter the diagnosis or prognosis, I KNEW my Ivy heard granny and understood.”

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