When a 3-year-old New York boy was diagnosed with the disease A rare genetic disorderHope came in an unexpected form – a golden retriever named Yami.
Susan Bresnahan's son, Patrick, was born in 2020 during the COVID-19 pandemic, she told Fox News Digital.
Bresnahan, who worked as a nurse for 20 years, noticed that her son had not reached any of the normal developmental milestones when he reached infancy.
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“I knew deep down that something was wrong,” she said during an on-camera interview.
Patrick Bresnahan, now 4, was diagnosed with a rare genetic neurodevelopmental disorder when he was 2 years old. (Susan Bresnahan)
Difficult diagnosis
After seeing and undergoing many specialists Genetic testsThe family learned that Patrick – who was just over two years old at the time – had a rare neurodevelopmental disorder called Timothy Syndrome.
“After I was diagnosed, it was the first good night's sleep I'd had in two years, because I was losing my mind when I knew something was really wrong,” Bresnahan recalls.
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Timothy syndrome occurs when there is a mutation in the CACNA1C gene, according to the Cleveland Clinic. Fewer than 100 people have been diagnosed worldwide.
The same source stated that this life-threatening disorder can affect the child's heart, cognitive abilities, nervous and immune systems, and physical appearance.
Initial symptoms can include some physical characteristics, Irregular heart functionAnd seizures, difficulty communicating and developmental delays, the last of which Bresnahan first noticed in her son.
“I was losing my mind knowing something was really wrong.”
In many cases, a CACNA1C mutation can be as well, Brechanan said mistaken for autismWhile autism is really just a symptom of a 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's not,” she noted.
Timothy syndrome occurs when there is a mutation in the CACNA1C gene, according to the Cleveland Clinic. Fewer than 100 people have been diagnosed worldwide. (Susan Bresnahan)
Although there is no cure for the syndrome, some treatments can help manage symptoms and improve outcomes.
Nearly 80% of diagnosed cases lead to fatal heart disease in early childhood, according to the Cleveland Clinic.
“I should have done more”
Experts recommend early intervention after Timothy syndrome is diagnosed.
“In addition Occupational therapy “And speech therapy, I felt like I should have been doing more,” Bresnahan told Fox News Digital.
“So I asked a neurologist about his thoughts on a service dog, because Patrick had no motivation to move.”
The family began the process of obtaining a service dog at ECAD (Educated Canines Assisting People with Disabilities) in Torrington, Connecticutwhich brings families together with dogs suited to their needs.
The Bresnahan family had to come up with $25,000 for their share of the cost of getting 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. A person looking for a dog must also complete a two-week course at an ECAD facility before they can be matched with an animal that best suits their specific needs.
Service dogs can be trained to open and close doors, turn on lights, and retrieve items and people while walking or going upstairs.
“A match made in heaven”
The Bresnahan family had to come up with $25,000 for their share of the cost of getting a service dog.
Within three weeks, they received the full amount through donations from friends, family and community members.
“It was unbelievable,” Bresnahan recalls. “I cried for three weeks straight, and it was amazing how people came forward to support us.”
Two years after the operation began, Patrick welcomed his dog, Yami.
“Within two weeks, he was doing 12 new things he had never done before,” she said. “I really couldn't believe my eyes.”
“It felt safe, having the dog by his side,” Bresnahan said. She added that Yami also increased Patrick's social ability and self-confidence. (Susan Bresnahan)
While Patrick had been walking slowly and moving “clumsily”, he suddenly started walking, running and moving more easily and smoothly with Yami.
He even started climbing stairs, something he had never tried to do before.
“It felt safe, having the dog by his side,” Bresnahan said. Yammy also augmented Patrick Social ability “And self-confidence,” she added.
“It's just a huge physical therapy session all day long, along with love and safety.”
While many people think Service dogs As a solution for the visually impaired, Bresnahan said it's ideal for children with developmental delays.
“It's just a huge physical therapy session all day long, along with love and safety.”
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Yami accompanies all of Patrick's doctor's appointments, offering unspoken support and comfort.
“It's a distraction, it's a friend,” Bresnahan said. “When I pet him, I felt like his anxiety went down. It was a beautiful thing – it's like a new member of the family.”
While Patrick had been walking slowly and moving “clumsily,” Susan Bresnahan said, he suddenly began walking, running and moving more easily and smoothly after receiving his service dog. (Susan Bresnahan)
“As Patrick's mother, I can say that Yami and Patrick are a match made in heaven,” she continued.
“Having a service dog allows Patrick to thrive and push himself to continue achieving new goals.”
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Today, at 4 years old, Patrick is healthy, although he is at risk for heart problems and seizures. He receives an EKG every year to monitor the electrical activity of his heart.
“He's the only one in the world who has this exact mutation, so there's no one to compare to,” Bresnahan said. “So we just have to keep watching and hoping.”
“It was a beautiful thing — like a new member of the family,” Susan Bresnahan said of her son's service dog. (Susan Bresnahan)
She said that while Patrick's progress was still “very late,” he was “moving in the right direction.”
“He is the happiest child alive.”
Bresnahan, who stays in touch with scientists researching the disorder, is hopeful that a new one will emerge Treatments or treatments in the future.
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For other parents whose children are not reaching the expected level Developmental milestonesShe recommends seeking genetic testing.
“It's just a mouth swab — and the amount of information you can get from that swab can change your life.”
