Service dog helps boy with rare genetic disorder make ‘incredible’ progress

When a 3-year-old boy in New York was diagnosed with a rare genetic disorderHope 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 was not meeting any of the normal developmental milestones when he reached toddler age.

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“I knew in my gut that something was wrong,” he said during an on-camera interview.

Patrick Bresnahan, now 4 years old, was diagnosed with a rare genetic neurodevelopmental disorder when he was 2 years old. (Susan Bresnahan)

A difficult diagnosis

After seeing many specialists and undergoing genetic testingThe family learned that Patrick, who was just over 2 years old at the time, had a rare neurodevelopmental disorder called Timothy syndrome.

“After I got the diagnosis, it was the first good night’s sleep I had in two years, because I was losing my mind knowing something was really wrong,” Bresnahan recalled.

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Timothy syndrome occurs when there is a mutation of the CACNA1C gene, according to the Cleveland Clinic. Less than 100 people are diagnosed worldwide.

The life-threatening disorder can affect the child’s heart, cognitive abilities, nervous and immune systems, and physical appearance, the same source said.

Initial symptoms may include certain physical characteristics, irregular heart functionseizures, communication problems 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, Breshanan said, the CACNA1C mutation can be confused with autismwhen autism is actually just a symptom of the genetic disorder.

“In Patrick’s case, I firmly believe that if I weren’t a nurse, especially in pediatrics, I would go around saying that my son has autism, but that’s not the case,” she noted.

Timothy syndrome occurs when there is a mutation of the CACNA1C gene, according to the Cleveland Clinic. Less than 100 people are diagnosed worldwide. (Susan Bresnahan)

Although there is no cure for the syndrome, certain treatments can help control symptoms and improve outcomes.

According to the Cleveland Clinic, nearly 80% of diagnosed cases lead to fatal heart disease in early childhood.

‘I had to do more’

Experts recommend early intervention after a diagnosis of Timothy syndrome.

“In addition to the occupational therapy and speech therapy, I felt like I had to do more,” Bresnahan told Fox News Digital.

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“So I asked a neurologist what he thought about a service dog, because Patrick just had no motivation to move.”

The family began the process of getting a service dog at ECAD (Educated Canines Assisting with Disabilities) in Torrington, Connecticutlooking for families with dogs adapted to their needs.

The Bresnahan family had to raise $25,000 to cover their share of the cost of receiving a service dog. “It was amazing how people came out to support us,” Susan Bresnahan said. (Susan Bresnahan)

Each ECAD dog receives more than 1,500 hours of training, according to Bresnahan. The person looking for a dog must also complete a two-week course at the ECAD facility before being matched with the animal that best suits their specific needs.

Service dogs can be trained to open and close doors, turn on lights, retrieve items, and stabilize people while they walk or climb stairs.

‘Match made in heaven’

The Bresnahan family had to raise $25,000 to cover their share of the cost of receiving a service dog.

Within three weeks, they had received the full amount through donations from friends, family and community members.

“It was amazing,” Bresnahan recalled. “I cried for three weeks straight; it was amazing how people came forward to support us.”

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A couple of years into the process, Patrick received his dog, Yammy.

“Within two weeks, I was doing like 12 new things I’d never done before,” he said. “I really couldn’t believe my eyes.”

“Having the dog by your side was a feeling of security,” Bresnahan said. Yammy has also increased Patrick’s social skills and self-confidence, he added. (Susan Bresnahan)

While Patrick used to walk slowly and move “clumsily”, he suddenly started walking, running and moving much more easily and smoothly with Yammy.

He even started climbing stairs, something he had never tried before.

“Having the dog by your side was a feeling of security,” Bresnahan said. Yammy has also increased Patrick’s. social skill and self-confidence, she added.

“It’s just a great all-day physical therapy session, along with love and security.”

While many people think of service dogs As a solution for people with vision problems, Bresnahan said they are ideal for a child with developmental delays.

“It’s just a great all-day physical therapy session, along with love and security.”

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Yammy attends all of Patrick’s medical appointments and provides unspoken support and comfort.

“He’s a distraction, he’s a friend,” Bresnahan said. “When you pet him, I feel his anxiety decrease. It’s been a beautiful thing, he’s like a new member of the family.”

While Patrick used to walk slowly and move “clumsily,” he suddenly began walking, running and moving much more easily and smoothly after getting his service dog, Susan Bresnahan said. (Susan Bresnahan)

“As Patrick’s mother, I can say that Yammy and Patrick are a perfect couple,” she continued.

“Receiving a service dog allows Patrick to thrive and push himself to continue reaching new heights.”

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Today, at 4 years old, Patrick is doing well, although he is at risk of heart problems and seizures. You receive electrocardiograms every year to monitor the electrical activity of your heart.

“It’s the only one in the entire 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 waiting.”

“It’s been a beautiful thing, he’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 “far behind,” he said, “it’s going in the right direction.”

“And he is the happiest child in the world.”

Bresnahan, who stays in touch with scientists researching the disorder, is hopeful of finding new treatments or therapies in the future.

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For other parents whose children are not achieving the expected level development milestonesrecommends seeking genetic testing.

“It’s just a mouth swab, and the amount of information you can get from that swab can change your life.”