When a 3-year-old New York boy is diagnosed with a rare genetic disease, hope comes in an unexpected form. It was a golden retriever named Yummy.
Susan Bresnahan's son Patrick was born in 2020 during the COVID-19 pandemic, she told Fox News Digital.
Bresnahan, who has worked as a nurse for 20 years, noticed that her son was not reaching normal developmental milestones as he reached early childhood.
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“I had a gut feeling that something was wrong,” she said in an on-camera interview.
Patrick Bresnahan, now 4, was diagnosed with a rare neurodevelopmental genetic disorder when he was 2 years old. (Susan Bresnahan)
harsh diagnosis
After seeing many specialists and undergoing genetic testing, the family learned that Patrick, then just over two years old, had a rare neurodevelopmental disorder called Timothy Syndrome.
“After I was diagnosed, it was the first time in two years that I had a good night's sleep, because I was losing my mind knowing there was a real problem,” Bresnahan said.
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According to the Cleveland Clinic, Timothy syndrome occurs when there is a mutation in the CACNA1C gene. Fewer than 100 people worldwide have been diagnosed.
The disorder is life-threatening and can affect the child's heart, cognitive abilities, nervous and immune systems and appearance, the source said.
Early symptoms include certain physical characteristics, irregular heart function, seizures, communication problems, and developmental delays, but it was that last symptom that Bresnahan first noticed.
“I was losing my mind because I knew something was really wrong.”
CACNA1C mutations can be mistaken for autism, Brechanan said, even though autism is often just a symptom of a genetic disorder.
“In Patrick's case, I feel very strongly that if I wasn't a nurse, especially a pediatric nurse, I would be walking around saying my child has autism, and he doesn't.” she pointed out.
According to the Cleveland Clinic, Timothy syndrome occurs when there is a mutation in the CACNA1C gene. Fewer than 100 people worldwide have been diagnosed. (Susan Bresnahan)
There is no cure for this syndrome, but certain treatments can help manage symptoms and improve outcomes.
According to the Cleveland Clinic, nearly 80% of diagnosed cases cause fatal heart disease in early childhood.
“I had to do more.”
Experts recommend early intervention after diagnosis of Timothy syndrome.
“I felt like I needed to do more besides occupational therapy and speech therapy,” Bresnahan told FOX News Digital.
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“So I asked the neurologist what he thought about service dogs, because Patrick had no motivation to move.”
The family began the process of getting a service dog at ECAD (Educated Canines Assisting with Disabilities) in Torrington, CT. ECAD matches families with dogs that fit their needs.
The Bresnahan family had to raise $25,000 to help pay for the service dog. “It was amazing how many people came forward to help us,” Susan Bresnahan said. (Susan Bresnahan)
Bresnahan said each ECAD dog has more than 1,500 hours of training. Those looking for a dog must also complete a two-week course at the ECAD facility before finding the animal best suited to their specific needs.
Service dogs can be trained to open and close doors, turn on lights, retrieve things, and stabilize a person when walking or going upstairs.
“A match made in heaven”
The Bresnahan family had to raise $25,000 to help pay for the service dog.
With donations from friends, family and local residents, we received the full amount within three weeks.
“It was unbelievable,” Bresnahan said. “I just cried for three weeks straight. It was amazing how people came forward to support us.”
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A few years after starting this process, Patrick adopted his dog, Yummy.
“Within two weeks, he was doing about 12 new things that he had never done before,” she said. “I really couldn't believe my eyes.”
“I felt safe having the dog next to me,” Bresnahan said. Yami also increased Patrick's social skills and self-confidence, she added. (Susan Bresnahan)
Patrick used to walk slowly and make “awkward” movements, but with Yummy he suddenly started walking, running, and moving much more easily and smoothly.
He started climbing stairs, something he had never attempted before.
“I felt safe having the dog next to me,” Bresnahan said. Yami also increased Patrick's social skills and self-confidence, she added.
“It's a huge physical therapy session that lasts all day with love and safety.”
While many people think of service dogs as a solution for the visually impaired, Bresnahan said service dogs are ideal for children with developmental delays.
“It's a huge physical therapy session that lasts all day with love and safety.”
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Yammy always accompanies Patrick to his doctor's appointments, providing silent support and comfort.
“It's a distraction and a friend,” Bresnahan said. “When I pet him, I feel like his anxiety eases. It's really great. It's like a new family member.”
Susan Bresnahan said Patrick used to walk slowly and move “awkwardly,” but after getting a service dog, he was suddenly walking, running and moving much more easily and smoothly. (Susan Bresnahan)
“As Patrick's mother, I can say that Yammy and Patrick are a match made in heaven,” she continued.
“Having a service dog allows Patrick to continue pushing himself to grow and achieve new goals.”
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Patrick, now 4 years old, is thriving, although he is at risk for heart disease and stroke. He undergoes an electrocardiogram every year to monitor the electrical activity of his heart.
“He's the only person in the entire world with this exact mutation, so there's really no one to compare him to,” Bresnahan said. “So we need to continue to monitor and continue to hope.”
“It's been amazing. It's like a new member of the family,” Susan Bresnahan said of her son's service dog. (Susan Bresnahan)
She said Patrick's progress was still “very slow” but “moving in the right direction.”
“And he's the happiest kid alive.”
Bresnahan continues to stay in contact with scientists studying the disorder and hopes that new treatments and treatments will be developed in the future.
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She encourages other parents whose children are not meeting expected developmental milestones to seek genetic testing.
“It's just a mouth swab. The amount of information you get from that swab can change your life.”
