Sanfilippo Syndrome

‘Sadie is 3. The clock will turn back. Each minute, we’re closer to the dreaded day she begins regressing.’: Newborn diagnosed with Childhood Alzheimer’s, ‘she is the greatest tragedy and blessing’

“Sadie’s birthday was such a bittersweet day. We saw all our hopes and dreams vanish. She is so smart, but we know this will all change soon. Before Sadie was born, we dreamed of her playing sports, helping her get ready for prom, college, and her dad walking her down the aisle. Today, we dream our sweet girl lives past the age of 14. We knew we had to fight this.”

‘Your baby is breathing 100 times per minute and still not getting oxygen.’ I felt so angry. I wanted answers.’: Mom ‘crushed’ by Childhood Alzheimer’s diagnosis, ‘we spoil her every day’

“I was at work, six months pregnant, when I saw the doctor’s office was calling. I naively answered. I shouldn’t have. ‘The older she gets, the more her body and mind will fade away.’ I didn’t want to call my husband. I wanted to crawl in bed and never come out. We spend each day wondering, ‘Will today be her last? Will she recognize me tomorrow?’ Our sweet, perfect, little girl was dying.”

‘I’m waiting for my daughter to die. Every day I wake up, she might not.’: Mom gives birth to ‘rainbow baby’ with ‘rare, terminal’ Sanfilippo syndrome, makes ‘each day count’

“She went from surpassing all her milestones to not being able to walk, drink, or eat. I was tired of going home from the hospital with no answers, the typical run around from doctors. One day, with 10 residents, 5 doctors, and 4 nurses in front of me, I said, and I quote, ‘Discharge her again and I promise I’ll sue every single person standing in this room.’ Needless to say, they ran every test. I now know that instead of her burying me, I’ll be burying her.”

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