A new paper examines the relationship between Down syndrome and ketotic hypoglycemia all thanks to researchers 'willing to listen to a mom.'
Mom Austin Carrigg was concerned when her daughter Melanie never learned to hold her head up or sit up. When she asked doctors why, she always heard the same thing: Your daughter has Down syndrome. Still, Carrigg suspected that another condition caused Melanie’s developmental delays.
“It was never a question in the researchers' minds as to whether I would be allowed to be involved,” she said. “That was the amazing part. They understand and value our voices even though we’re parents and not medical providers."As Melanie, now 8, became a toddler, Carrigg knew something was wrong. Melanie slept all day, struggled to hold her head up, sit or walk. Carrigg often asked doctors about Melanie’s behaviors, yet they often dismissed her.
Melanie was in a coma from low blood sugar, but doctors had few answers. When Carrigg returned home, she was determined to understand what happened and met with a new endocrinologist. That’s when the frustrated mom pushed again for help and finally received it. Carrigg was thrilled to see her daughter enjoying life. As she spoke with other parents of children with Down syndrome she noticed that some of their children had similar symptoms.
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