Health
Service dog helps boy with rare genetic disorder achieve ‘unbelievable’ progress
When a 3-year-old New York boy was diagnosed with a rare genetic disorder, hope came in an unlikely form — a golden retriever named Yammy.
Susan Bresnahan’s son, Patrick, was born in 2020 during the COVID-19 pandemic, she told Fox News Digital.
Bresnahan, who has been a nurse for 20 years, noticed that her son wasn’t hitting any of the normal developmental milestones as he reached toddler age.
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“I knew in my gut that something was wrong,” she said during an on-camera interview.
Patrick Bresnahan, now 4, was diagnosed with a rare neurodevelopmental genetic disorder at 2 years old. (Susan Bresnahan)
A tough diagnosis
After seeing many specialists and undergoing genetic testing, the family learned that Patrick — just over 2 years old at the time — had a rare neurodevelopmental disorder called Timothy syndrome.
“After getting the diagnosis, it was the first good night’s sleep I had in two years, because I was losing my mind knowing there was something really wrong,” Bresnahan recalled.
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Timothy syndrome occurs when there is a mutation of the CACNA1C gene, according to Cleveland Clinic. Fewer than 100 people are diagnosed worldwide.
The disorder, which is life-threatening, can affect a child’s heart, cognitive abilities, nervous and immune systems, and physical appearance, the same source stated.
Initial symptoms can include certain physical characteristics, irregular heart function, seizures, trouble communicating, and developmental delays, the last of which Bresnahan first noticed in her son.
“I was losing my mind knowing there was something really wrong.”
In many cases, Breshanan said, the CACNA1C mutation can be mistaken for autism, when the autism is really just a symptom of the genetic disorder.
“In Patrick’s case, I feel strongly that if I wasn’t a nurse, especially in pediatrics, I would be walking around saying my child has autism, but he doesn’t,” she noted.
Timothy syndrome occurs when there is a mutation of the CACNA1C gene, according to Cleveland Clinic. Fewer than 100 people are diagnosed worldwide. (Susan Bresnahan)
Although there is no cure for the syndrome, certain treatments can help manage symptoms and improve outcomes.
Nearly 80% of diagnosed cases lead to fatal heart conditions in early childhood, according to Cleveland Clinic.
‘Had to do more’
Experts recommend early intervention after a diagnosis of Timothy syndrome.
“Besides the occupational therapy and speech therapy, I just felt like I had to do more,” Bresnahan told Fox News Digital.
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“So I asked a neurologist what their thoughts were on a service dog, because Patrick just had no motivation to move.”
The family started the process of getting a service dog at ECAD (Educated Canines Assisting with Disabilities) in Torrington, Connecticut, which matches up families with dogs suited to their needs.
The Bresnahan family had to raise $25,000 for their portion of the cost to receive a service dog. “It was amazing how people came forward to support us,” Susan Bresnahan said. (Susan Bresnahan)
Each ECAD dog receives more than 1,500 hours of training, according to Bresnahan. The person seeking a dog must also complete a two-week course at the ECAD facility before they are matched with the animal that best suits their specific needs.
The service dogs can be trained to open and close doors, turn on lights, retrieve items and steady people while walking or going upstairs.
‘Match made in heaven’
The Bresnahan family had to raise $25,000 for their portion of the cost to receive a service dog.
Within three weeks, they had received the full amount through donations from friends, family and community members.
“It was unbelievable,” Bresnahan recalled. “I just cried for three weeks straight — it was amazing how people came forward to support us.”
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A couple of years after starting the process, Patrick received his dog, Yammy.
“Within two weeks, he was doing like 12 new things he had never done,” she said. “I really couldn’t believe my eyes.”
“It was a sense of security, having the dog next to him,” Bresnahan said. Yammy has also increased Patrick’s social ability and self-confidence, she added. (Susan Bresnahan)
Where Patrick used to walk slowly and move “clumsily,” he suddenly began walking, running and moving much more easily and smoothly with Yammy.
He even started climbing steps, something he had never attempted before.
“It was a sense of security, having the dog next to him,” Bresnahan said. Yammy has also increased Patrick’s social ability and self-confidence, she added.
“It’s just a huge physical therapy session all day long, along with the love and security.”
While many people think of service dogs as a solution for the vision-impaired, Bresnahan said they are ideal for a developmentally delayed child.
“It’s just a huge physical therapy session all day long, along with the love and security.”
Yammy comes along to all of Patrick’s doctor’s appointments, providing unspoken support and comfort.
“It’s a distraction, it’s a friend,” Bresnahan said. “When he pets him, I feel like his anxiety goes down. It’s just been a beautiful thing — it’s like a new family member.”
Where Patrick used to walk slowly and move “clumsily,” he suddenly began walking, running and moving much more easily and smoothly after receiving his service dog, said Susan Bresnahan. (Susan Bresnahan)
“As Patrick’s mother, I can say that Yammy and Patrick are a match made in heaven,” she went on.
“Receiving a service dog allows Patrick to thrive and push himself to continue reaching new goals.”
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Today, at 4 years old, Patrick is doing well, although he is at risk of cardiac problems and seizures. He receives EKGs each year to monitor his heart’s electrical activity.
“He’s the only one in the whole world with this exact mutation, so there’s really no one to compare it to,” Bresnahan said. “So we just have to keep monitoring and hoping.”
“It’s just been a beautiful thing — it’s like a new family member,” Susan Bresnahan said of her son’s service dog. (Susan Bresnahan)
While Patrick’s progress is still “very delayed,” she said, it’s “going in the right direction.”
“And he’s the happiest kid alive.”
Bresnahan, who stays in touch with scientists who are researching the disorder, is hopeful for new treatments or therapies in the future.
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For other parents whose children aren’t hitting the expected developmental milestones, she recommends seeking out genetic testing.
“It’s just a mouth swab — and the amount of information you can get from that swab can change your life.”
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Eating too much salt has long been linked to high blood pressure, but new research suggests it could trick the immune system into prematurely aging the blood vessels.
A preclinical study recently published in the Journal of the American Heart Association has identified a biological chain reaction that links a salty diet to cardiovascular decay.
Scientists at the University of South Alabama observed that mice on a high-salt diet experienced rapid deterioration in their blood vessel function.
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After just four weeks of high sodium intake, the small arteries responsible for regulating blood flow lost their ability to relax, according to a press release.
The team found that the cells lining these vessels had entered a state of cellular senescence, a form of premature cellular aging in which cells stop dividing and release a mix of inflammatory signals that can damage surrounding tissue.
Excess salt has long been linked to high blood pressure, but a new study goes deeper into its effects on the cardiovascular system. (iStock)
The researchers tried to replicate this damage by exposing blood vessel cells directly to salt in a laboratory dish, but the cells showed no harmful effects.
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This suggests that salt isn’t directly causing damage to the vascular lining but that the real culprit may be the body’s own defense mechanism, the researchers noted.
Excess salt may trigger the immune system to release a molecule called interleukin-16 (IL-16), which acts as a messenger that instructs blood vessel cells to grow old before their time, according to the study.
Excess salt may trigger the immune system to release a molecule called interleukin-16, which acts as a messenger that instructs blood vessel cells to grow old before their time, according to the study. (iStock)
Once these cells age, they fail to produce nitric oxide, the essential gas that tells arteries to dilate and stay flexible.
To test whether this process could be reversed, the team turned to a class of experimental drugs known as senolytics.
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Using a cancer medication called navitoclax, which selectively clears out aged and dysfunctional cells, the researchers were able to restore nearly normal blood vessel function in the salt-fed mice, the release stated.
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By removing the decaying cells created by the high-salt diet, the drug allowed the remaining healthy tissue to maintain its elasticity and respond correctly to blood flow demands.
Excess salt may trigger the immune system into stopping the cells from dividing, the study suggests. (iStock)
The study did have some limitations. The transition from mouse models to human treatment remains a significant hurdle, the team cautioned.
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Senolytic drugs like navitoclax are still being studied for safety, and the team emphasized that previous trials have shown mixed results regarding their impact on artery plaque.
Additionally, the researchers have not yet confirmed whether the same IL-16 pathway is the primary driver of vascular aging in humans.
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Eating a diet high in fruits and vegetables was found to have a surprising link to lung cancer among younger non-smokers, early research suggests.
The observational study, led by Jorge Nieva, M.D., of the USC Norris Comprehensive Cancer Center at Keck Medicine, was presented this month at the American Association for Cancer Research (AACR) annual meeting in San Diego. It has not yet been peer-reviewed.
Researchers looked at dietary, smoking and demographic data for 187 patients who were diagnosed with lung cancer at age 50 or younger.
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They found that among non-smokers, there was a link between healthier-than-average diets – rich in fruits, vegetables and whole grains – and the chance of lung cancer development.
Young lung cancer patients ate more servings of dark green vegetables, legumes and whole grains compared to the average U.S. adult, the researchers found.
Eating a diet high in fruits and vegetables was found to have a surprising link to lung cancer among younger non-smokers, early research suggests. (iStock)
The researchers hypothesized that pesticides applied to conventionally grown produce could be a possible factor in the disease association.
“Commercially produced (non-organic) fruits, vegetables and whole grains are more likely to be associated with a higher residue of pesticides than dairy, meat and many processed foods,” according to Nieva. He also noted that agricultural workers exposed to pesticides tend to have higher rates of lung cancer.
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“There is a large subset of lung cancer patients whose disease is not caused by smoking,” Nieva told Fox News Digital.
The disease is becoming more common in non-smokers 50 and younger, especially women – despite the fact that smoking rates have been falling for decades, the researcher noted.
The researchers hypothesized that pesticides applied to conventionally grown produce could be a possible factor in the disease association. (iStock)
“These patients tend to have eaten much healthier diets before their diagnosis than the average American,” he went on. “We need to support research into understanding why Americans – and women in particular – who no longer smoke very much are still having lung cancer,” he said.
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The study did have some limitations, Nieva acknowledged, primarily that it relied on survey data and was limited by the participants’ memories of their food intake.
“Also, the survey participants were self-selected, and this could have biased the findings,” he told Fox News Digital.
“There is a large subset of lung cancer patients whose disease is not caused by smoking.”
The researchers did not test specific foods for pesticides, relying instead on average pesticide levels for certain types of food. Looking ahead, they plan to test patients’ blood and urine samples to directly measure pesticide levels, Nieva said.
Although the study shows only an association and does not prove that pesticides caused lung cancer, Nieva recommends that people wash their produce before eating and choose organic foods whenever possible.
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“This work represents a critical step toward identifying modifiable environmental factors that may contribute to lung cancer in young adults,” said Nieva. “Our hope is that these insights can guide both public health recommendations and future investigation into lung cancer prevention.”
“It is possible that the increased lung cancer risk could be due to pesticide exposure in whole farmed foods, but is by no means certain,” a doctor said. (AP Photo/Charlie Neibergall)
Dr. Marc Siegel, Fox News senior medical analyst, said the study is “interesting,” but that it “raises far more questions than it answers.”
“It is a small study (around 150) and observational, so no proof,” the doctor, who was not involved in the research, told Fox News Digital.
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“It is possible that the increased lung cancer risk could be due to pesticide exposure in whole farmed foods, but it is by no means certain,” Siegel went on. “How much exposure is needed? How much of it gets into food and in which areas? This requires much further study.”
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Kayla Nichols, communications director for Pesticide Action & Agroecology Network, a distributed global network, said the organization agrees with the study’s conclusion that more research should be done on the rise in lung cancer, particularly in individuals eating diets higher in produce and fiber.
“There is a large subset of lung cancer patients whose disease is not caused by smoking,” the researcher told Fox News Digital. (iStock)
“There is a bounty of existing research that already links pesticide exposure to increased risk of multiple types of cancers,” Nichols, who was also not involved in the study, told Fox News Digital. She called for more research on chronic, low-level exposures to pesticides, as well as more effective policies to protect the public from pesticide residues on food.
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The study was supported by the National Institutes of Health and the National Cancer Institute, as well as industry partners including AstraZeneca and Genentech, among others.
Fox News Digital reached out to several pesticide companies and trade groups for comment.
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