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.
"I knew in my gut that something was wrong," she said during an on-camera interview.
Tough diagnosis
After seeing many specialists and undergoing genetic testing, young Patrick — just over 2 years old at the time — had a rare neurodevelopmental disorder called Timothy syndrome, the family learned.
"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.
Timothy syndrome occurs when there is a mutation of the CACNA1C gene, according to Cleveland Clinic. Fewer than 100 people are diagnosed worldwide.
The life-threatening disorder can affect a child’s heart, cognitive abilities, nervous and immune systems, and physical appearance, the same source said.
"I was losing my mind knowing there was something really wrong."
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.
‘Had to do more’
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 for thoughts 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 being 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.
‘Match made in heaven’
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 12 new things he had never done," she said. "I really couldn't believe my eyes."
Patrick used to walk slowly and move "clumsily" — but 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 said.
"It’s just a huge physical therapy session all day long, along with the love and security."
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."
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 stays in touch with scientists who are researching the disorder. She's hopeful for new treatments or therapies in the future.
For other parents whose children aren’t hitting the expected developmental milestones, she recommends seeking out genetic testing.
https://www.foxnews.com/health/service-dog-helps-boy-rare-genetic-disorder-achieve-unbelievable-progress
Abstract
Background: Timothy syndrome (OMIM #601005) is a rare disease caused by variants in the gene CACNA1C. Initially, Timothy syndrome was characterized by a cardiac presentation of long QT syndrome and syndactyly of the fingers and/or toes, all associated with the CACNA1C variant, Gly406Arg. However, subsequent identification of diverse variants in CACNA1C has expanded the clinical spectrum, revealing various cardiac and extra-cardiac manifestations. It remains underexplored whether individuals with the canonical Gly406Arg variants in mutually exclusive exon 8A (Timothy syndrome 1) or exon 8 (Timothy syndrome 2) exhibit overlapping symptoms. Moreover, case reports have indicated that some CACNA1C variants may produce a cardiac-selective form of Timothy syndrome often referred to as non-syndromic long QT type 8 or cardiac-only Timothy syndrome, however few reports follow up on these patients to confirm the cardiac selectivity of the phenotype over time.
Methods: A survey was administered to the parents of patients with Timothy syndrome, querying a broad range of symptoms and clinical features. Study participants were organized into 5 separate categories based on genotype and initial diagnosis, enabling comparison between groups of patients which have been described differentially in the literature.
Results: Our findings reveal that Timothy syndrome patients commonly exhibit both cardiac and extra-cardiac features, with long QT syndrome, neurodevelopmental impairments, hypoglycemia, and respiratory issues being frequently reported. Notably, the incidence of these features was similar across all patient categories, including those diagnosed with non-syndromic long QT type 8, suggesting that the 'non-syndromic' classification may be incomplete.
Conclusions: This study represents the first Natural History Study of Timothy syndrome, offering a comprehensive overview of the disease's clinical manifestations. We demonstrate that both cardiac and extra-cardiac features are prevalent across all patient groups, underscoring the syndromic nature of CACNA1C variants. While the critical role of long QT syndrome and cardiac arrhythmias in Timothy syndrome has been well recognized, our findings indicate that hypoglycemia and respiratory dysfunction also pose significant life-threatening risks, emphasizing the need for comprehensive therapeutic management of affected individuals.
Abstract
Background: CACNA1C gene encodes the alpha 1 subunit of the CaV1.2 L-type Ca2+ channel. Pathogenic variants in this gene have been associated with cardiac rhythm disorders such as long QT syndrome, Brugada syndrome and Timothy syndrome. Recent evidence has suggested the possible association between CACNA1C mutations and neurologically-isolated (in absence of cardiac involvement) phenotypes in children, giving birth to a wider spectrum of CACNA1C-related clinical presentations. However, to date, little is known about the variety of both neurological and non-neurological signs/symptoms in the neurologically-predominant phenotypes. Methods and Results: We conducted a systematic review of neurologically-predominant presentations without cardiac conduction defects, associated with CACNA1C mutations. We also reported a novel de novo missense pathogenic variant in the CACNA1C gene of a children patient presenting with constructional, dressing and oro-buccal apraxia associated with behavioral abnormalities, mild intellectual disability, dental anomalies, gingival hyperplasia and mild musculoskeletal defects, without cardiac conduction defects. Conclusions: The present study highlights the importance of considering the investigation of the CACNA1C gene in children's neurological isolated syndromes, and expands the phenotype of the CACNA1C related conditions. In addition, the present study highlights that, even in absence of cardiac conduction defects, nuanced clinical manifestations of the Timothy syndrome (e.g., dental and gingival defects) could be found. These findings suggest the high variable expressivity of the CACNA1C gene and remark that the absence of cardiac involvement should not mislead the diagnosis of a CACNA1C related disorder.
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