Mom of a child with Down syndrome makes a discovery after being dismissed by doctors.

There was a definite concern in Austin Carrigg’s heart when Melanie didn’t know how to hold her head or sit up and she was just six months old. They always told her that her daughter had Down syndrome when she questioned them about it. Carrigg, on the other hand, suspected that Melanie’s developmental delays were caused by a different condition.

Her daughter was diagnosed with ketotic hypoglycemia, which causes low blood sugar and some of Carrigg’s symptoms, following an emergency medical visit and extensive advocacy. Carrigg frequently heard from parents of children with Down syndrome that their children had similar experiences.

This other little girl with Down syndrome, also has a blood sugar issue like my daughter does. ‘What are the odds?'” The 35-year-old Carrigg told TODAY that he lives outside of Washington, D.C. In retrospect, I realised there had to be a reason for this.

With her belief that Down syndrome and ketotic hypoglycemia are linked, she worked with researchers and was listed as a co-author on a recent paper published in JIMD Reports. 7 percent of children with Down syndrome have been diagnosed or suspected of having ketotic hypoglycemia, according to the study published in the journal Pediatrics.

Researchers never considered whether or not she would be allowed to participate, she said. ‘That was awe-inspiring.’ Despite the fact that we are parents rather than medical professionals, they appreciate and respect our opinions.”

The Instincts of a Mother

Carrigg noticed something was amiss as Melanie, now eight, became a toddler. All day, Melanie was unable to stand, sit, or walk because she couldn’t hold her head up. Carrigg frequently inquired of doctors about Melanie’s conduct, but they frequently dismissed her concerns.

After taking her to a developmental paediatrician, Carrigg recalls saying to the doctor, “I know something is very wrong and we need your help in figuring out why she isn’t meeting her milestones,” and the doctor agreed to meet with the family. “He told me, ‘She’ll never walk,'” I remember thinking. She’s never going to open up to you again, I can tell you that much. The last time I see you is now.’

Carrigg’s reaction was one of disbelief. Melanie did not meet any of the developmental milestones that are expected of children with Down syndrome. In the wake of a terrifying incident, Carrigg was convinced Melanie had yet another health issue. Melanie became agitated and then completely unresponsive during a trip to Arizona with her family.

“We couldn’t wake her up after she had vomited once,” she said. “When we were able to rouse her, she would fight us. She was hitting and then trying to get away from me. As a result, we made a hasty retreat to the nearest emergency room.”

Doctors were stumped as to why Melanie was in a coma due to low blood sugar. When Carrigg returned home, she made an appointment with a new endocrinologist because she was determined to learn more about what had transpired. That’s when the mother’s pleas for assistance finally paid off.

‘You’ve got to do something,’ I said after I’d laid out all of the low blood sugars and high ketones. There is a serious problem,'” Carrigg said. When she asked if I wanted to see a metabolic geneticist right away, I said, “You have to do it now.””

Ketotic Hypoglycemia

A condition that causes low blood sugar and ketosis, was diagnosed by the metabolic geneticist.

Carrigg described the news as “relieving.” Because it was so surreal, the world was spinning. I’m relieved to know that I’m not alone. “They’re finally going to assist me in my efforts to assist her.”

Although it can lead to serious complications, such as coma, there is a simple treatment for this.

Carrigg instructed, “You take cornstarch.” Incredibly, cornstarch helps keep blood sugar levels stable.

Melanie began to change rapidly as soon as she began her treatment.

When Carrigg put her on cornstarch, she was able to walk within six months, he said. When he was a baby, our kiddo would sleep through the night every night. She was wide awake, thriving, and having a good time.

As a mother, Carrigg couldn’t be happier to see her daughter having fun. She noticed that some of the other parents of children with Down syndrome had similar symptoms as she spoke with them.

“There are too many of us who have children with Down syndrome who either sound like they have this—or it’s confirmed—for there not to be a connection,” she said.

Carrigg shared her suspicions with a patient organisation called Ketotic Hypoglycemia International. The advisory board’s executive director, Danielle Drachmann, linked Carrigg to the group, and the investigators decided it was worth looking into.

As Carrigg put it, “someone was willing to listen to a mom” and that’s how they got to where they are.

A New Discovery

140 parents of children with Down syndrome provided information on their children’s symptoms so that researchers could determine how frequently these children experience ketotic hypoglycemia. For the first time, researchers have found a correlation between ketotic hypoglycemia and a diagnosis or symptoms consistent with it.

Down syndrome patients’ low blood sugar was a concern, but we hoped it wouldn’t be overlooked.” One of the paper’s authors, Dr. Henrik Thybo Christen, a paediatrician and clinical professor at Hans Christian Andersen Children’s Hospital in Denmark, told TODAY via email that it is easy to diagnose once you have a suspicion.

There are a number of possible reasons why no one has noticed this connection, according to his co-author Jacob Sten Petersen.

In the past, “ketotic hypoglycemia (low blood glucose) has been completely overlooked,” Novo Nordisk’s corporate vice president told TODAY via email. “Since Down syndrome is such a complicated genetic disease, with many different manifestations that may resemble low blood glucose, this is probably why (ketotic hypoglycemia) was completely overlooked,” he said. Thousands of people’s lives could be changed by this groundbreaking example of what patient organisations are capable of accomplishing through citizen science.

As a result, Drachmann hopes that more researchers will pay attention to the perspectives of patients.

What could we be doing in five years if patient organisations and patients and caregivers were empowered to share their thoughts on correlation… and medical experts were educated, encouraged and trained in research projects with patients and their caregivers as equal stakeholders? she wondered via email to NBC TODAY.

Ketotic hypoglycemia and Down syndrome are linked, but more research is needed to uncover the details. Nonetheless, this study raises the possibility that a child with Down syndrome could be diagnosed with hypoglycemia, especially if the patient has low blood sugar. Carrigg is thankful that her efforts to improve the lives of others have paid off for her and her daughter.

“They gave me a voice,” she said, referring to the people around her. “I am her mother.” I know her the best… In the end, “I was right,” said another group of doctors.

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