[ad_1]
When a 3-year-old New York boy was diagnosed with a rare genetic disease Hope arrives in the most unlikely form. That was 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 developing normally as a toddler.
Rare disease diagnosis strengthens bond between twin sisters: ‘Doing our best’
“I knew in my heart something was wrong,” she said during an on-camera interview.
Patrick Bresnahan, now 4, was diagnosed with a rare genetic disorder when he was 2 years old. (Susan Bresnahan)
Difficult diagnosis
After seeing several specialists and undergoing genetic testing, The family learned that Patrick He was only 2 years old at the time and had a rare neurodevelopmental disorder called Timothy Syndrome.
“After being diagnosed I had my first full night’s sleep in two years. Because I lost my mind when I realized something was wrong,” Bresnahan recalls.
Family sells dream home to raise funds to save 5-year-old daughter’s life
Timothy syndrome occurs when there is a mutation in the CACNA1C gene. According to the Cleveland Clinic, fewer than 100 people have been diagnosed worldwide.
The life-threatening disorder can affect the heart. perception ability Nervous and immune system and the external appearance of the child The same source stated
Initial symptoms may include some physical characteristics. Heart malfunction, seizures, communication problems and developmental delays It was the final symptom that Bresnahan first noticed in her son.
“I lost my mind when I realized something was really wrong.”
Breshanan said that in many cases CACNA1C mutations may be mistaken for autism. Since autism is only a symptom of a genetic disease
“In Patrick’s case. I feel strongly that if I didn’t become a nurse, Especially in the field of pediatrics. I will walk around saying my child is autistic But he wasn’t,” she said.
Timothy syndrome occurs when there is a mutation in the CACNA1C gene. According to the Cleveland Clinic, fewer than 100 people have been diagnosed worldwide. (Susan Bresnahan)
Although there is no cure for this disease, But certain treatments can help manage symptoms and improve outcomes.
Nearly 80% of diagnosed cases lead to childhood heart failure, according to the Cleveland Clinic.
‘More must be done’
Experts recommend seeking treatment early. After Timothy’s Disease Diagnosis
“In addition to occupational therapy and speech therapy, I just felt like I needed to do more,” Bresnahan told Fox News Digital.
Father creates medicine to save his son from rare disease Now other families Desperate to get this medicine
“So I asked neurologists what they thought of service dogs. Because Patrick has no motivation to move.”
The family began the process of adopting a service dog at ECAD (Educated Canines Assisting with Disabilities) in Torrington. Connecticut which matches families with dogs that suit their needs.
The Bresnahan family had to raise $25,000 to cover the cost of adopting a service dog. “It was amazing how many 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, those looking for a dog must complete a two-week course at an ECAD center before they can be matched with an animal that best suits their specific needs.
Service dogs can be trained to open and close doors, turn on lights, pick up objects, and control people while walking or going upstairs.
‘A match made in heaven’
The Bresnahan family had to raise $25,000 to cover the cost of adopting a service dog.
within three weeks They were paid in full through donations from friends, family and community members.
“It was incredible,” Bresnahan recalls. “I cried for three weeks straight. It was amazing how many people came out to support us.”
Frantic mother saves clinical trial that could cure her daughter: ‘The treatment is sitting in the refrigerator’
A couple of years after starting this process, Patrick adopted his dog, Yammy.
“Within two weeks He did 12 new things that he had never done,” she said. “I couldn’t believe my eyes.”
“I feel safe when I have a dog next to me,” Bresnahan said. Yammy also boosted Patrick’s social abilities and self-confidence, she added. (Susan Bresnahan)
Where Patrick used to walk slowly and moving “awkwardly”, he suddenly began walking, running, and moving more easily and smoothly with Yammy.
He began to climb the steps. It was something he had never tried before.
“I feel safe when I have a dog next to me,” Bresnahan said. Yammy also boosted Patrick’s social abilities and self-confidence, she added.
“It was just a big rehab session throughout the day. along with love and safety.”
While many People think of service dogs as a solution for the visually impaired. Bresnahan said the dogs are ideal for children with developmental delays.
“It was just a big rehab session throughout the day. along with love and safety.”
CLICK HERE TO GET THE FOX NEWS APP
Yummy comes to all of Patrick’s doctor’s appointments. By giving help and comfort without telling them.
“It’s a distraction. It was a friend,” Bresnahan said. “When he caressed it. I feel like my anxiety has subsided. It is a very beautiful thing. It’s like having a new member in the family.”
The place where Patrick used to walk slowly. and moved “awkwardly,” he suddenly began walking, running and moving more easily and smoothly after getting his service dog, Susan Bresnahan said. (Susan Bresnahan)
“As Patrick’s mother I can tell you that Yammy and Patrick are a match made in heaven,” she continued.
“Adopting a service dog has helped Patrick thrive and push himself to continue achieving new goals.”
Click here to subscribe to our health newsletter.
Today, 4-year-old Patrick is doing well, although he is at risk for heart problems and seizures. He gets an EKG every year to monitor his heart’s electrical activity.
“He is the only person in the world with this kind of mutation. So there really is no comparison,” Bresnahan said. “So we must continue to monitor and hope.”
“It is so beautiful. It’s like having a new member of the family,” Susan Bresnahan said of her son’s service dog. (Susan Bresnahan)
While Patrick’s progress is still “very slow,” she said it is “moving in the right direction.”
“And he was the happiest child alive.”
Bresnahan, who remains in contact with scientists researching the disorder, Hopefully there will be new treatments or treatments in the future.
See more health articles at www.foxnews.com/health
For other parents that the child’s development is not as expected She recommended undergoing genetic testing.
“It’s just a napkin. And the amount of information you get on that napkin can change your life.”
[ad_2]
Source link
