Health
Family with Down syndrome son went from shock to gratitude: 'Lost the air in my chest'
“I literally felt like I’d lost the air in my chest. I couldn’t speak.”
That was the immediate reaction of a Florida dad and entrepreneur when he learned during an urgent phone call from his wife — who was pregnant with their fourth child and had just finished talking with a doctor — that their new baby might be born with Down syndrome.
“I was sad. I was angry. I was frustrated,” said Aric Berquist, who shared his thoughts in a video (see the video at the top of this article) and in an interview with Fox News Digital.
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Berquist said that on the phone call, he “wanted to stay calm” for the sake of his wife, Gretchen, “who was teary” as the couple talked over the news.
After they hung up, as he struggled with his emotions, he said, “I just felt this, heard this voice say, ‘Who are you to tell me what a blessing is?’”
Aric Berquist’s son, Asher, is shown at age 9 tossing a football with his dad at home. Said Berquist about the day his son was born, “I really do feel that on that day, treasure was put in my hands.” (Aric Berquist/The Lesson)
The deeply faithful Christian parent said the voice “wasn’t angry. It felt strong, and it felt safe — and it was so shocking that all of my arm hairs were raised to the point that it hurt.”
And he found himself “just bursting into tears.”
A subsequent ultrasound confirmed the diagnosis of Down syndrome for their new baby — and the couple did all they could to prepare themselves, and their older children, for the baby’s arrival.
“He continues to teach me more about life and myself than I could ever dream of articulating.”
That year, the dad said, “Asher was born. And I really do feel that on that day, treasure was put in my hands.”
Berquist described the joy he believes their youngest has brought the entire family — both from the time he was born and up to the present day, including at the recent wedding of their daughter, the oldest of their four children.
“That kid has literally changed my life in an amazing way,” he said.
The Berquist family at the recent wedding of daughter Abby, center. Youngest child Asher is shown at right, front. (Berquist family)
The couple’s youngest is 13 years old today and in sixth grade.
“And he continues to teach me more about life and myself than I could ever dream of articulating.”
He “loves sports,” added Berquist. “He’ll play flag football and he’s done soccer. He loves to play sports with his two older brothers, Andrew and Adam.”
“He is available to everyone he engages with.”
He said his son Asher’s bond with brother Adam — the sibling closest to him in age — “is one of the richest and most beautiful things I’ve ever seen.”
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Their youngest “occupies the current moment like nobody I have ever met,” Berquist also said. “He is present. And he is available to everyone he engages with.”
He makes others feel “acknowledged. And I’m starting to think that we, as the ‘typical people,’ have the disabilities — not him.”
“It’s been really wonderful to see how he’s developed — just his growth within each phase,” said Aric Berquist of his youngest child. (Aric Berquist/The Lesson)
Today, Berquist also told Fox News Digital, “he’s doing so well. It’s been really wonderful to see how he’s developed — just his growth within each phase. But more than that, it’s been really touching as a parent to see how he’s connected with so many people in his life. It’s been beautiful to watch.”
Changes in development
Heart problems are a concern for children with Down syndrome — and young Asher had bypass surgery within the first three months of his life, his family said. After a week in the hospital, he returned home to his parents and siblings.
Down syndrome is a condition in which a baby is born with an extra chromosome.
Chromosomes determine how the body forms and functions. Those born with an extra one experience changes in the way the body and brain develop.
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A baby is typically born with 46 chromosomes. A baby with Down syndrome has a full or partial copy of chromosome 21.
About 5,700 babies are born with Down syndrome each year in the U.S., and over 400,000 people in the country currently live with it, according to the Centers for Disease Control and Prevention (CDC).
About 5,700 babies are born in the U.S. with Down syndrome each year and over 400,000 people in the country currently live with it. The blue-and-yellow ribbon represents Down syndrome awareness. (iStock)
The life expectancy of those with the condition has increased dramatically over the years.
In 1983, it was just 25 years old — but today it’s 60 years old, per the Global Down Syndrome Foundation, a nonprofit based in Denver, Colorado.
The most common type of Down syndrome is trisomy 21, which accounts for 95% of all cases. Less common types of Down syndrome are translocation (caused by rearranged chromosome material) and mosaicism (when there is a mixture of two types of cells).
Not every child with Down syndrome will display the developmental symptoms.
There are no known ways to prevent the condition during pregnancy and no known root causes, experts say.
One risk factor associated with Down syndrome is the age of the mother. For a 25-year-old pregnant woman, the odds are about 1 in 1,250. At age 40, those odds are 1 in 100, statistics show.
Dad Aric Berquist, shown on a walk on the beach, said he cherishes the “blessings” brought to his whole family by his youngest son. (Aric Berquist/The Lesson)
There are both physical and developmental symptoms of Down syndrome.
Physical symptoms may include a flattened face; shorter height; short neck; small ears, hands and feet; and decreased muscle tone, according to the CDC.
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Developmental symptoms, meanwhile, may include a short attention span, impulsive behavior, slow learning and delayed speech development.
Not every child with Down syndrome will display each of these traits.
‘Walk through that day’
A key life lesson for Berquist through his experiences has been about being present.
Know that “your feet are on the ground today,” he said.
“Walk through that day.”
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When there are life challenges, he said, “when we walk through things that are tough, we’re being cleaned. We’re being made into something beautiful if we allow it and if we walk through it.”
Berquist also said, “Breathe that air. Engage with that beauty. Because that is your life.”
Angelica Stabile and Ashlyn Messier, both of Fox News Digital, contributed reporting.
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The keto diet may help individuals with anorexia nervosa, new research from UC San Diego School of Medicine suggests.
The small study, published in the journal Nature, enrolled 22 women between 18 and 45 years old who had a history of anorexia nervosa and a BMI (body mass index) above 17.5.
Anorexia nervosa (AN) is a severe psychiatric disorder involving food restriction and low body weight, the researchers describe. This is often followed by body dissatisfaction, an intense fear of eating, and a preoccupation with body shape and size even after weight restoration.
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The participants followed a ketogenic therapy plan for 14 weeks, aiming for a diet consisting of 70% fat, 20% protein and 10% carbohydrates, according to a press release.
The participants followed a ketogenic therapy plan for 14 weeks, aiming for a diet consisting of 70% fat, 20% protein and 10% carbohydrates. (iStock)
The goal was to maintain weight while inducing nutritional ketosis — a metabolic state in which the body produces and uses ketones for energy because carbohydrate intake is low enough to shift metabolism toward fat burning.
The researchers monitored the participants via ketone testing, weekly weight checks, symptom questionnaires, and nutritional and psychiatric support.
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Among the remaining 18 participants, eating disorder symptoms reportedly improved in several areas, including restraint, depression scores, and concern with eating, shape and weight.
Overall scores on the Eating Disorder Examination Questionnaire (EDE-Q) also improved, with 72% of participants scoring in the recovered or normal range.
Eating disorder symptoms reportedly improved in several areas, according to the study findings. (iStock)
The participants’ body weight did not change significantly, and no BMI fell below 17.5, according to the results.
Those who continued to follow ketogenic therapy three months after the intervention had slightly better EDE-Q scores.
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The study authors concluded that ketogenic dietary therapy is “well-tolerated” and demonstrated “potential efficacy” in reducing anorexia nervosa symptoms in adults who are mildly underweight or weight-restored.
Although the study was “sufficiently powered,” the authors noted that the small sample size of predominantly White females limits the scope of the findings.
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“Future research should replicate these findings in more diverse populations and incorporate objective assessments of brain function, such as metabolic PET imaging, to assess brain glucose metabolism,” they wrote.
Those who continued to follow ketogenic therapy three months after the intervention had slightly better scores on the Eating Disorder Examination Questionnaire. (iStock)
Lead study author Guido Frank, MD, professor of psychiatry at the UC San Diego School of Medicine, who has studied and treated anorexia patients for more than 25 years, launched this study to broaden treatment options for this high-risk population.
Frank wrote in a statement that new approaches to anorexia nervosa are “urgently” needed.
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“Our work with ketogenic therapy looks beyond standard therapies and potentially at the underlying physiology of the disorder,” he went on.
“Growing evidence links anorexia nervosa to neurometabolic dysfunction, and we are hopeful that direct metabolic intervention can regulate neural function and address the psychological symptoms patients experience.”
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A new injectable therapy is showing positive results in reducing melanoma throughout a five-year period.
The personalized mRNA cancer therapy, called intismeran autogene, combined with the cancer immunotherapy drug KEYTRUDA (pembrolizumab), is a collaboration between Merck and Moderna.
The results from the phase 2b KEYNOTE-942 study were presented at the American Society of Clinical Oncology (ASCO) Annual Meeting in Chicago on May 27.
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After about a five-year follow-up, the combo drug was found to reduce the risk of melanoma recurrence or death by 49% compared to pembrolizumab alone.
The researchers analyzed data from 157 patients with high-risk stage 3 and 4 melanoma whose cancer had been removed via surgery. The participants were split into two groups — one received the combo therapy and the other only received pembrolizumab, according to a press release.
The therapy was found to reduce the risk of melanoma recurrence or death by 49% compared to pembrolizumab alone after a five-year follow-up. (iStock)
The findings revealed that the combination group saw benefits that were “sustained and durable over time.”
Intismeran autogene is designed using mutations identified in a patient’s own tumor, with the intention of teaching the immune system what the cancer looks like so that it can recognize and attack it.
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According to the researchers, intismeran is “well-tolerated” with a “manageable” safety profile.
The most commonly cited side effects of the personalized mRNA vaccine plus KEYTRUDA were fatigue, injection-site pain, chills, fever and headache. The researchers reported no new long-term safety concerns and no severe vaccine-related adverse events.
The combination therapy is currently being evaluated in a phase 3 study — the final confirmation stage.
Patients with late-stage melanoma have a “significant risk” of cancer recurrence, according to an expert. (iStock)
In a Merck press release from January, Kyle Holen, MD, Moderna’s senior vice president and head of development, oncology and therapeutics, noted that this data highlights the “potential of a prolonged benefit … in patients with resected high-risk melanoma.”
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“We continue to invest in our platform in oncology because of encouraging outcomes like these, which illustrate mRNA’s potential in cancer care,” he said.
Dr. Marjorie Green, senior vice president and head of oncology, global clinical development at Merck Research Laboratories, also commented that for many patients with stage 3 or 4 melanoma, there is a “significant risk of recurrence following surgery.”
Researchers confirmed that the combination therapy is currently being evaluated in a phase 3 study. (iStock)
“As such, demonstrating the longer-term potential of intismeran autogene and KEYTRUDA to reduce the risk of recurrence for certain patients with melanoma is a meaningful milestone,” she said.
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The company cited encouraging five-year follow-up data and pointed to upcoming late-stage INTerpath trial results with Moderna in several hard-to-treat cancers.
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An accidental lab discovery has opened the door to entirely new ways of preventing the flu.
While investigating how influenza replicates, researchers discovered that different flu strains use completely different strategies to infiltrate human cells, SWNS reported.
By targeting the specific molecules the viruses rely on, scientists found that they could block them from entering new cells and halt their replication altogether.
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Researchers say these “fundamental insights” into seasonal influenza highlight a clear path toward developing better preventive medications.
“The hope is that fundamental, curiosity-based research like this helps to pave the way for novel strategies to treat and prevent influenza infections,” principal investigator Dr. Emily Bruce, from the University of Vermont’s Larner College of Medicine, said in the SWNS report.
While investigating how influenza replicates, researchers discovered that different flu strains use completely different strategies to infiltrate human cells. (iStock)
While several flu strains cause illness, H1N1 and H3N2 influenza A viruses are the most common. However, current flu tests cannot differentiate between them, and clinical treatments are identical for both.
Although vaccines and antivirals are available, Bruce noted a “dire” need for better medications to stop the virus from spreading cell to xxcell.
“You don’t get sick when a virus is in one cell,” he noted. “You get sick because a virus replicates itself and goes into many more cells.”
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The study, which was published in The Journal of Virology, originally aimed to map how viral RNA segments are transported within cells to create new viral particles.
The team used H1N1 and H3N2 viruses isolated from the nasal passages of positive patients in 2022.
Clinical treatments remain identical for both primary strains of the flu virus. (iStock)
During the investigation, the team unexpectedly stumbled upon a cellular pathway that blocked the virus from entering lung cells, SWNS reported.
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The data revealed that when a specific human protein called Rab11B was depleted, H3N2 viruses failed to enter human lung cells. H1N1 viruses were completely unaffected.
Using reverse genetics, the team mapped this defect and uncovered a brand-new, H3N2-specific role for Rab11B during viral entry.
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This discovery challenged the scientific assumption that all flu viruses enter cells the same way.
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“Viruses are like pirates from different countries hijacking someone’s ship,” Bruce said. “Different viruses, like different types of pirates, use different methods to get onboard.”
This discovery challenged the scientific assumption that all flu viruses enter cells the same way. (iStock)
“We had previously thought that all flu viruses used the same way to get into a cell, but we discovered that this is not true,” she went on. “H1N1 and H3N2 need different proteins to get in, and if you get rid of the right protein, a specific virus can’t get in.”
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While these findings identify a critical cellular pathway for viral entry, the study was conducted using isolated cells, the researchers acknowledged.
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Further research is needed to determine whether blocking the protein is safe and effective within a live, complex human respiratory system.
Bruce and the team hope to conduct further research to determine whether this Rab11B-dependency is a fundamental property of H3N2, or if it’s a trait unique to currently circulating flu strains.
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