When a 3-year-old New York boy was diagnosed with a rare genetic disorder, hope 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 wasn’t hitting any of the normal developmental milestones as he reached toddler age.
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"I knew in my gut that something was wrong," she said during an on-camera interview.
After seeing many specialists and undergoing genetic testing, the family learned that Patrick — just over 2 years old at the time — had a rare neurodevelopmental disorder called Timothy syndrome.
"After getting the diagnosis, it was the first good night’s sleep I had in two years, because I was losing my mind knowing there was something really wrong," Bresnahan recalled.
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Timothy syndrome occurs when there is a mutation of the CACNA1C gene, according to Cleveland Clinic. Fewer than 100 people are diagnosed worldwide.
The disorder, which is life-threatening, can affect a child’s heart, cognitive abilities, nervous and immune systems, and physical appearance, the same source stated.
Initial symptoms can include certain physical characteristics, irregular heart function, seizures, trouble communicating, and developmental delays, the last of which Bresnahan first noticed in her son.
In many cases, Breshanan said, the CACNA1C mutation can be mistaken for autism, when the autism is really just a symptom of the 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 doesn't," she noted.
Although there is no cure for the syndrome, certain treatments can help manage symptoms and improve outcomes.
Nearly 80% of diagnosed cases lead to fatal heart conditions in early childhood, according to Cleveland Clinic.
Experts recommend early intervention after a diagnosis of Timothy syndrome.
"Besides the occupational therapy and speech therapy, I just felt like I had to do more," Bresnahan told Fox News Digital.
"So I asked a neurologist what their thoughts were on a service dog, because Patrick just had no motivation to move."
The family started the process of getting a service dog at ECAD (Educated Canines Assisting with Disabilities) in Torrington, Connecticut, which matches up families with dogs suited to their needs.
Each ECAD dog receives more than 1,500 hours of training, according to Bresnahan. The person seeking a dog must also complete a two-week course at the ECAD facility before they are matched with the animal that best suits their specific needs.
The service dogs can be trained to open and close doors, turn on lights, retrieve items and steady people while walking or going upstairs.
The Bresnahan family had to raise $25,000 for their portion of the cost to receive a service dog.
Within three weeks, they had received the full amount through donations from friends, family and community members.
"It was unbelievable," Bresnahan recalled. "I just cried for three weeks straight — it was amazing how people came forward to support us."
A couple of years after starting the process, Patrick received his dog, Yammy.
"Within two weeks, he was doing like 12 new things he had never done," she said. "I really couldn't believe my eyes."
Where Patrick used to walk slowly and move "clumsily," he suddenly began walking, running and moving much more easily and smoothly with Yammy.
He even started climbing steps, something he had never attempted before.
"It was a sense of security, having the dog next to him," Bresnahan said. Yammy has also increased Patrick’s social ability and self-confidence, she added.
While many people think of service dogs as a solution for the vision-impaired, Bresnahan said they are ideal for a developmentally delayed child.
"It’s just a huge physical therapy session all day long, along with the love and security."
Yammy comes along to all of Patrick’s doctor’s appointments, providing unspoken support and comfort.
"It’s a distraction, it's a friend," Bresnahan said. "When he pets him, I feel like his anxiety goes down. It's just been a beautiful thing — it’s like a new family member."
"As Patrick’s mother, I can say that Yammy and Patrick are a match made in heaven," she went on.
"Receiving a service dog allows Patrick to thrive and push himself to continue reaching new goals."
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Today, at 4 years old, Patrick is doing well, although he is at risk of cardiac problems and seizures. He receives EKGs each year to monitor his heart’s electrical activity.
"He's the only one in the whole 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 hoping."
While Patrick’s progress is still "very delayed," she said, it’s "going in the right direction."
"And he's the happiest kid alive."
Bresnahan, who stays in touch with scientists who are researching the disorder, is hopeful for new treatments or therapies in the future.
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For other parents whose children aren’t hitting the expected developmental milestones, she recommends seeking out genetic testing.
"It's just a mouth swab — and the amount of information you can get from that swab can change your life."
from Health News Today on Fox News https://ift.tt/Wentgkb
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