The mom of a little girl with Down syndrome battled for doctors to pay attention to her unusual side effects — leading to a scientific breakthrough

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Austin Carrigg knew her daughter Melanie would have health problems. Carrigg and her husband had committed to adopting a child with special needs, and Melanie’s included Down syndrome, deafness, and a congenital heart defect.

She’s speaking out to urge other parents to listen to their guts when it comes to their children’s health.

“We have so many instances where moms and dads say, ‘Something’s wrong with my child,’ and people say, ‘No, everything’s fine,'” Carrigg said. “We have to understand if something is wrong and that feeling doesn’t go away, maybe it’s worth the second opinion.”

“Something was very wrong,” Carrigg said, so she took Melanie to a developmental pediatrician. “He walked in the door — like only half his body — and he said, ‘She’s never gonna walk, she’s never gonna talk, I don’t need to see you again, you can check out at the front desk.’ And he left.”

“Finally,” Carrigg said, “I got a resident on the phone, and I think at that moment I just lost it. I’m like, ‘You know, if something happens to my daughter, we’ll hold you responsible.’ And she promptly got us a referral to a geneticist and we got to a metabolics team.”

Tests revealed she has chromosomal deletion that affects how the body synthesizes sugar. Melanie, now 9, is the first known patient with that particular deletion presented in that way, Carrigg’s later research reported. It caused ketotic hypoglycemia, which describes low blood sugar with ketosis.

The first-line treatment for KH: cornstarch, a long-acting carbohydrate that slowly burns off sugar. Melanie consumed it mixed with water through her G-tube as well as mixed with formula.

Giving her energy her body could process “was like watching her wake up,” Carrigg said. “It felt very much like I had a baby to all of a sudden she’s running and playing and telling me ‘no.’ She’s demanding, but sweet and kind. She cares about everybody, and if I cry, she cries. And just to think I could have missed all of that.”

 

 

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Article URL : https://www.insider.com/mom-of-girl-with-down-syndrome-advanced-science-pushed-doctors-2022-4