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Read Mabel’s Story

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New screening helps find diagnosis for Arkansas girl with rare genetic mutation.

Maebel’s version of playing, Shelly said, usually involves her standing still, watching other kids interact. In one video of a sleepover with her friends, she bounced on a bed with them, holding hands and giggling for a few seconds before moving off to the side.

Maebel can’t ride a bike. She can’t read. Her parents and a former teacher say she’s smart, with a good memory. If her mom mentions offhand that her mouth is dry, Maebel will run off to get her something to drink from the fridge. She notices small changes in the decor at her grandmother’s house. But she can only say about 10 words — mama, dada, goodnight and woo pig sooie, among them.

Full story here

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