Austin Carrigg knew something was not right with her toddler. Doctors ignored her concerns even when Melanie needed emergency care. Carrigg published research on a possible link between Melanie's diagnosis and the potential link. Melanie would have health problems. Carrigg and her husband were going to adopt a child with special needs, and Melanie had Down syndrome, deafness, and a congenital heart defect. Carrigg, who now lives outside of Washington, DC, told Insider that the couple's older son has a rare disorder, so they thought: "If we could parent him, anything this throws at us, we'll be fine." Two weeks after Melanie was brought home from the intensive care unit, she went into heart failure and needed open-heart surgery. Carrigg thought things could only go up from there. Carrigg thought that if she could get past this open-heart surgery, the rest of her life would be fine. After fighting the medical system for several years for answers about her daughter's lack of development, she was told it was just Down syndrome. Carrigg became a published author in medical literature after finding her answer. She wants other parents to listen to their guts when it comes to their children's health. Carrigg said that they have so many instances where parents say something is wrong with their child, and people say that everything is fine. Most children with Down syndrome can stand and hold onto something around the age of 1 according to the scales. Melanie couldn't sit or hold her head up by 2 years old. Carrigg took Melanie to a doctor because she said something was very wrong. Melanie learned to sit and hold her head up with the help of physical therapy. She couldn't stand by 3 and nobody could figure out why. Melanie threw up and resisted her dad's embrace during a trip to visit family in Arizona. The little girl was in a coma when they got to the ER. She spent five days in the hospital with dangerously low blood sugar. At one point, a routine fast test led to Melanie crashing, and clinicians needed to put an IV in her jugular to revive her immediately. Down syndrome is linked to a range of potential problems, including heart defects and immune disorders, but tanking blood sugar isn't explained by the condition alone. Melanie was discharged without explanation. After all of that was done, the team said they had no idea what was wrong. Carrigg remembers that you need to get on a plane and go home. Doctors at home continued to insist that everything was fine. Carrigg said, "I got a resident on the phone, and I think at that moment I lost it." She got us a referral to a geneticist and a metabolics team, and I was like, "You know, if something happens to my daughter, we'll hold you responsible." She has a deletion that affects how the body makes sugar. Melanie is the first known patient with that particular deletion presented in that way. Low blood sugar with ketosis is caused by it. The first-line treatment is a long-actingCarbohydrate that burns off sugar. Melanie used her G-tube to drink it mixed with formula. Carrigg said it felt like she had a baby when she was running and playing. If I cry, she cries. I think I could have missed that. Carrigg connected with another mom who had a child with Down syndrome who also had hypogonadism. Carrigg said that he called Ketotic Hypoglycemia International and they listened. 140 parents of children with Down syndrome were surveyed by Carrigg and the organization in five days. About 7% of them had symptoms that made them think they were hypoglycemic. Only 1% of people with Down syndrome develop leukemia, but that link is widely-discussed in the community. Since it is a diagnosis of exclusion and it is under-researched, it is unclear how common it is in the general population. The results of the study were published in the journal JIMD Reports. Carrigg was a co-author. She runs a national nonprofit for military families and is the vice president of disability research and policy. Next steps will be to try to understand the underlying conditions. Carrigg and others are in the process of starting their next study. She said that she was proud of the fact that patients and caregivers could bring a lot to the table. The original article can be found on Insider. Julia Roberts told Extra that her twins are going to college. I was not lucky enough to have a college experience. And so. A college professor is accused of abusing a baby boy he adopted just weeks ago, leaving him with a fractured skull, broken rib, and other injuries. Few know that Amazon has millions of Prime subscribers. Noam Chomsky, 93, who is often hailed as one of the world's most important intellectuals, warns that we are approaching the most dangerous point in human history. 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Oh,TrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkiaTrademarkia Remember when True Thompson and Chicago West were photographed together at Disneyland? Well, it turns out that was not the case. Hundreds of women came and left Charlie's beach house. See what the ladies of Two and a Half Men are doing today. crunchy parents have found their own special place betweensilky and parenting. 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Even a medical emergency didn't prompt clinicians to dig deeper, Carrigg said
A geneticist finally led to some answers
Carrigg prompted research showing there may be a link between Down syndrome and ketotic hypoglycemia
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