Boy with rare genetic disorder makes 'unbelievable' progress with the help of a service dog.

A golden retriever named Yammy provided hope for a 3-year-old New York boy diagnosed with a rare genetic disorder.

Susan Bresnahan's son, Patrick, was born in 2020 amid the COVID-19 pandemic, she shared with Planet Chronicle Digital.

As her son grew into a toddler, Bresnahan, a 20-year veteran nurse, observed that he wasn't meeting the typical developmental milestones.

During an on-camera interview, she stated, "I instinctively knew something was off." (Watch the video at the top of this article.)

Tough diagnosis

The family discovered that young Patrick, who was just over 2 years old at the time, had a rare neurodevelopmental disorder called Timothy syndrome after consulting with many specialists and undergoing genetic testing.

Recalling the incident, Bresnahan stated that the first good night's sleep he had in two years was after receiving the diagnosis, as he was overwhelmed with worry knowing there was a serious issue.

According to Cleveland Clinic, fewer than 100 people are diagnosed with Timothy syndrome, which results from a mutation of the CACNA1C gene.

The disorder can harm a child's heart, cognitive abilities, nervous and immune systems, and physical appearance, according to the source.

"I was losing my mind knowing there was something really wrong."

Certain physical characteristics, irregular heart function, seizures, and trouble communicating can be initial symptoms of developmental delays, which Bresnahan first noticed in her son.

The CACNA1C mutation can appear similar to autism, but it is actually a symptom of a different genetic disorder.

"If I weren't a nurse, particularly in pediatrics, I would be walking around saying my child has autism, but he doesn't," she remarked.

While there is no remedy for the condition, specific therapies can alleviate symptoms and enhance results.

According to Cleveland Clinic, nearly 80% of diagnosed cases result in fatal heart conditions in early childhood.

‘Had to do more’

Experts recommend early intervention after a diagnosis of Timothy syndrome.

Besides occupational therapy and speech therapy, Bresnahan felt the need to do more, as she shared with Planet Chronicle Digital.

"I consulted with a neurologist about a service dog for Patrick, who lacked motivation to move."

ECAD in Torrington, Connecticut, connects families with service dogs that meet their specific requirements. The family initiated the process of obtaining a service dog at this organization.

Before being matched with a dog, individuals must complete a two-week course at the ECAD facility and receive more than 1,500 hours of training, as stated by Bresnahan.

Service dogs can be trained to perform tasks such as opening and closing doors, turning on lights, retrieving items, and steadying people while walking or going upstairs.

‘Match made in heaven’

The family had to raise $25,000 for their share of the cost to obtain a service dog.

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

"Bresnahan remembered how she cried for three weeks straight after the incident, but it was incredible how people came forward to support her."

Patrick got his dog, Yammy, a few years after beginning the process.

""In just two weeks, he had mastered 12 new skills that he had never attempted before," she exclaimed in disbelief."

Patrick previously walked slowly and clumsily, but he began walking, running, and moving more easily and smoothly with Yammy.

He even started climbing steps, something he had never attempted before.

Patrick's sense of security was heightened by having the dog beside him, according to Bresnahan. Additionally, Yammy has boosted Patrick's social skills and self-assurance, as stated by Bresnahan.

"It’s just a huge physical therapy session all day long, along with the love and security."

Bresnahan stated that service dogs are ideal for a developmentally delayed child, rather than just being a solution for the vision-impaired.

"A day of physical therapy with love and security is all that's needed."

Patrick's unspoken support and comfort is always present during his doctor's appointments, with Yammy accompanying him.

"Bresnahan stated, "Petted by my friend, I feel his anxiety decrease. It's been a wonderful experience - like adding a new family member.""

"As Patrick's mother, I can attest that Yammy and Patrick are a perfect match," she continued.

"Having a service dog helps Patrick achieve his goals and push himself further."

Patrick, at 4 years old, is doing well, but he has a risk of cardiac problems and seizures. He undergoes EKGs annually to monitor his heart's electrical activity.

""Since he's the only one in the world with this specific mutation, there's no one to compare it to. Therefore, we must monitor and hope for the best," Bresnahan stated."

Patrick's progress is improving, although it is still delayed, and he is the happiest kid alive.

Bresnahan maintains contact with researchers studying the disorder and is optimistic about potential treatments or therapies in the future.

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She suggests genetic testing for other parents whose children are not meeting developmental milestones.

"A mouth swab can provide enough information to significantly alter your life."