When a 3-year-old New York boy was diagnosed with 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, a nurse for 20 years, noticed that her son wasn’t hitting any normal developmental milestones as he approached his toddler years.
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“I knew in my heart that something was wrong,” she said during an on-camera interview.
Patrick Bresnahan, now 4, was diagnosed with a rare neurodevelopmental genetic disorder at age 2. (Susan Bresnahan)
A difficult assessment
After seeing and going through many experts Genetic testingthe family learned that Patrick – then just over 2 years old – had a rare neurodevelopmental disorder called Timothy syndrome.
“After the diagnosis, it was the first good night’s sleep in two years, because I was losing my mind knowing that something was really wrong,” Bresnahan recalled.
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According to the Cleveland Clinic, Timothy syndrome occurs when the CACNA1C gene is mutated. Fewer than 100 people worldwide are diagnosed.
The disorder, which is life-threatening, can affect a child’s heart, cognitive abilities, nervous and immune systems, and physical appearance, the same source said.
Early symptoms may include certain physical characteristics, Irregular heart functionseizures, difficulty communicating, and developmental delays, the last of which Bresnahan noticed in her son.
“I was losing my mind knowing that something was really wrong.”
In many cases, Breshnan said, the CACNA1C mutation may be present. Wrong for autismwhen autism is really 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 saying my child has autism, but he doesn’t,” she noted.
According to the Cleveland Clinic, Timothy syndrome occurs when the CACNA1C gene is mutated. Fewer than 100 people worldwide are diagnosed. (Susan Bresnahan)
Although there is no cure for the syndrome, some treatments can help manage symptoms and improve outcomes.
About 80 percent of diagnosed cases lead to fatal heart conditions in early childhood, according to the Cleveland Clinic.
‘had to do more’
Experts recommend early intervention after a diagnosis of Timothy syndrome.
“Besides Occupational therapy And speech therapy, I felt like I had to do more,” Bresnahan told Fox News Digital.
“So I asked a neurologist what he thought about a service dog, because Patrick had no motivation to move.”
The family began the process of getting a service dog at ECAD (Educated Canines Assisting with Disabilities). Torrington, Connecticutwhich matches families with dogs according to their needs.
The Bresnahan family had to raise $25,000 for their share of the cost of getting the service dog. “It was amazing how people came out to support us,” Susan Bresenhan said. (Susan Bresnahan)
According to Bresnahan, each ECAD dog receives more than 1,500 hours of training. A person looking for a dog must also complete a two-week course at the ECAD facility before they can meet an animal that fits their specific needs.
Service dogs can be trained to open and close doors, turn on lights, retrieve objects and stabilize people while walking or climbing.
‘A Match Made in Heaven’
The Bresnahan family had to raise $25,000 for their share of the cost of getting the service dog.
Within three weeks, they had raised the entire amount through donations from friends, family and community members.
“It was unbelievable,” Bresnahan recalled. “I just cried for three weeks – it was amazing how people came forward to support us.”
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A few years after starting the process, Patrick got his own dog, Yami.
“Within two weeks, he was doing 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 with him,” Bresnahan said. Yami has also improved Patrick’s social skills and self-esteem, he added. (Susan Bresnahan)
Where Patrick walked slowly and moved “clumsily”, he suddenly started walking, running and moving with Yami with much more ease and ease.
He even started climbing stairs, something he had never attempted before.
“It was a sense of security, having the dog with him,” Bresnahan said. Yami has also raised Patrick. Social competence And self-esteem, she added.
“It’s just a big physical therapy session with love and security all day long.”
While many people think Service dogs As a solution for the visually impaired, Bresnahan said they are ideal for a child with developmental delays.
“It’s just a big physical therapy session with love and security all day long.”
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Yammy accompanies all of Patrick’s doctor’s appointments, providing unconditional support and comfort.
“It’s a distraction, it’s a friend,” Bresnahan said. “When he gets to raise her, I feel like he’s less anxious. It’s just a beautiful thing — it’s like a new family member.”
Susan Bresnahan said that whereas Patrick walked slowly and moved “clumsily,” he suddenly started walking, running and walking with much more ease and ease after getting his service dog. (Susan Bresnahan)
“As Patrick’s mom, I can say that Yami and Patrick are a match made in heaven,” she continued.
“Having a service dog allows Patrick to continue to thrive and push himself to reach new goals.”
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Today, at age 4, Patrick is doing well, although he is at risk for heart problems and seizures. He receives EKGs annually to monitor his heart’s electrical activity.
“He’s the only person in the whole world who has a perfect changeup, so there’s really no one to compare him to,” Bresenhan said. “So we just have to monitor and hope.”
“It’s just been a beautiful thing — it’s like a new member of the family,” Susan Bresnahan said of her son’s service dog. (Susan Bresnahan)
While Patrick’s progress is still “very delayed,” he said, it is “going in the right direction.”
“And he’s the happiest kid alive.”
Bresnahan, who stays in touch with scientists researching the disorder, is hopeful for the new. treatment or treatment In the future
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For other parents whose children are not meeting expectations. Development milestonesshe recommends genetic testing.
“It’s just a mouth swab – and the information you can get from that swab can change your life.”