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We recently connected with Sue Bresnahan, whose son Patrick was diagnosed with a rare, genetic disorder after genetic testing revealed a mutation in the CACNA1C gene. Like many parents facing unexplained symptoms like developmental delays or missed milestones, Sue endured a long diagnostic odyssey that was filled with specialist visits, emotional strain, and unanswered questions. It wasn’t until genetic testing was done that her family received a definitive diagnosis: a CACNA1C-related disorder, a rare condition that can affect neurological and cardiac function. In this conversation, Sue shares how genetic testing changed everything, from fear and isolation to advocacy and hope. Her story underscores why early and accessible genetic testing is critical for families navigating rare pediatric conditions.
Plus, Sue’s story features an incredible dog named Yammy, and the world needs more stories about relationships like Patrick and Yammy’s.
I first sensed something was different with Patrick when he wasn’t hitting his developmental milestones on time. At three months old, he still had not rolled over, which concerned me right away. Every three months, I brought up my worries to the pediatrician and said clearly that something wasn’t right. In this pediatric practice, they assess developmental milestones every three months, and at each visit, Patrick consistently wasn’t meeting them. Despite this, I was often told I was looking at him with a fine-tooth comb, that I was just a pediatric nurse, and probably worrying too much. But deep down, I knew. Even though Patrick had great eye contact and smiled a lot, he didn’t move much and rarely made sounds. That combination stood out to me from very early on.
Navigating early intervention and specialist referrals before we had a diagnosis was both a positive and exhausting experience. On one hand, we were lucky to have access to some truly wonderful therapists (physical, speech, and occupational) who were committed and compassionate. We also had the best of the best doctors, mainly in New York City. On the other hand, managing all of it was overwhelming. Coordinating everyone’s schedules, having multiple therapists coming into the house, trying to keep up with Patrick’s and the family's meals, Patrick's need for downtime, and caring for the rest of the family…it all became a full-time job. I felt like I was on the phone with insurance every other day. We had to make an important decision for me as a nurse, that I would only work 1-2 days a week, because it was just too much. It was a very hard and emotionally draining time in my life, even though I was grateful for the support we were receiving.
After seeing so many different specialists and still not getting any clear answers, I eventually realized there was only one path left to explore: genetic testing. Emotionally, it was a really difficult decision. I had put it off for a long time because the idea of a genetic disorder was terrifying to me. Unlike other diagnoses, genetics felt permanent, something you couldn’t fix with medication or therapy. The thought of uncovering something unchangeable about Patrick’s future was overwhelming. But after exhausting all other possibilities, I knew we had to face it. As hard as it was, it was the only way to start understanding what we were truly dealing with.
When we finally got the CACNA1C diagnosis, it was a strange mix of fear and relief. I was told at first that only 26 people in the world had it, and I immediately realized I wouldn’t be able to find much, if anything, online. But in a way, that was a relief. I had spent the past two years staying up at night, waking up at 3 a.m. with new search terms in my head, endlessly Googling things like “not talking yet” or “not doing this yet.” When the diagnosis came, my husband and I had a glass of wine together—not just to acknowledge that we finally had a name for what Patrick was going through, but also to toast the fact that I could stop Googling.
Of course, the diagnosis itself was terrifying. A week later, I learned the number had changed; it was 46 people now, though still under 100. I had no idea what that meant for Patrick’s future. I was especially scared of the cardiac implications, though I felt a bit reassured because we had already seen a cardiologist and his heart was fine at that point. I was also worried about the possibility of seizures, since Patrick had this constant eye-rolling motion that made me wonder, but again, we had already done EEGs. In some ways, I was incredibly grateful that I had seen so many specialists before getting the diagnosis. It meant we had already checked off so many of the scary possibilities that come with CACNA1C. So while it was a frightening answer, it was still an answer, and that brought a kind of peace.
A lot changed for our family after we received the confirmed genetic diagnosis. At first, I didn’t do much. I think I was numb, maybe even a little depressed, without fully realizing it. I didn’t know what this diagnosis meant for Patrick or how I was going to change as a mother now that I had this knowledge. I was constantly afraid of something happening to his heart or him starting to seize. Even now, I still sleep with a baby monitor focused on his face, just in case. The rarity of CACNA1C means there’s still so much unknown, and that fear doesn’t just disappear.
But a few months later, I finally gathered the courage to search “CACNA1C” on Facebook. That’s when I connected with Sophie, the head of our support group, who also has a child with a CACNA1C-related disorder. That moment changed my life. She told me I wasn’t alone, that she had a “Patrick,” too. I broke down in tears, shaking, crying with relief, comfort, and hope. For the first time, I spoke to someone who had walked in my shoes, seen the same specialists, felt the same confusion, and knew exactly what I was going through.
Since then, our family dynamic has shifted significantly. I don’t work nearly as much anymore because this, supporting Patrick, managing this diagnosis, and advocating for others, has become my real full-time job. I want to make sure he has every chance to thrive, and I also want to help other families avoid the trauma and isolation I experienced. My hope is that, in the future, when a mom gets this diagnosis, she’s immediately met with information, guidance, and a community. I don’t want anyone to have to face the diagnosis in the dark like I did.
Meeting Sophie, the mom who started the CACNA1C support group, truly changed the course of my journey. She gave me hope when I didn’t even know I was looking for it. I admire her deeply, not only for how she supports her own child, but for how, even back in 2016, when there was almost no information available, she took action. After getting her child’s diagnosis, she connected with a researcher and immediately began building a community so that families like mine wouldn’t feel so alone.
Sophie and I speak often, and I now serve on the board with her. I’m incredibly grateful to have Sophie in my life. That connection opened the door for me to meet many other parents going through the same thing, and it inspired me to start supporting others as well. As a pediatric nurse, I have the advantage of understanding the medical system and knowing which specialists to seek out, which is something many families understandably struggle with. I try to use that knowledge to guide others, both within our CACNA1C community and beyond. I’ve helped families with other rare and frightening diagnoses, and I often find myself offering support to parents I meet in the hospital. It’s become part of who I am now. I am someone who not only walks this road but also tries to light the way for others, too.
My perspective on genetic conditions and testing has changed dramatically over time. In the beginning, I was terrified of genetic testing. I was afraid of what we might uncover and how it could change everything. But now, I’m passionate about raising awareness and encouraging other families to consider it. I’ve come to realize that knowledge truly is power. Yes, getting a diagnosis is scary, but without that information, researchers and scientists have nothing to work with. If families don’t speak up, if we don’t share our stories, then no one even knows our children exist, let alone what their symptoms are, or how to help them.
Because of genetic testing, I now know that Patrick is at risk for cardiac events and seizures. That knowledge allows me to be prepared. He wears a Holter monitor for two weeks every year to track his heart rhythm, and he gets three-day EEGs to monitor for seizures, even the ones I might not be able to detect on my own. If I had never pursued genetic testing, I would have no way of knowing these risks, and no plan in place to handle them if they happened.
More than anything, I want families to understand that genetic testing isn’t just about getting answers, it’s about protecting your child and potentially opening the door to treatments or a cure. That can only happen if we are willing to step forward and share what we’ve learned.
Yammy, our service dog, has been such an incredible part of Patrick’s journey. What a story! Even before we had a diagnosis, I remember asking Patrick’s neurologist if getting a service dog might help. I was hoping it could motivate him to move more, to engage. The neurologist said, “You’re dealing with something so rare—try anything outside the box.” So I did.
By the time Yammy came into our lives, we had received the CACNA1C diagnosis, and Patrick was still not moving as much as he should have been. But everything changed once Yammy arrived. He completely motivated Patrick. Suddenly, Patrick wanted to walk, run, climb, and be wherever Yammy was. He started attempting stairs and even began using his right arm, which he had rarely used before. Playing fetch with Yammy became a kind of therapy. Patrick started throwing the ball with his right hand, and now he almost uses both hands equally. The dog gave him a sense of security and companionship that pushed him to try things he hadn’t before.
What I didn’t expect, and what’s been so incredible, is how Yammy has helped raise awareness for CACNA1C. People are drawn to stories about service dogs. They’re curious and engaged, and that gives me the chance to share our story. Yammy has opened the door to so many conversations that wouldn’t have happened otherwise. He’s not only helped Patrick in amazing ways, but he’s also helped us shine a light on a very rare condition and connect with others.
And something I still find unbelievable is that I applied for Yammy before we even had Patrick’s diagnosis. At that time, I had no idea Patrick was at risk for cardiac episodes or seizures. But now that we do know, having a trained service dog gives us an added layer of safety and peace of mind. God forbid something happens, we have a plan, and Yammy is a part of that plan. I had no way of knowing how important that decision would be, but it ended up being one of the best I’ve ever made.
My biggest piece of advice to parents whose children are showing unexplained symptoms is this: get genetic testing. One genetic counselor once told me something that stuck with me: if your child just isn’t developing the way they should, it’s simple. In most cases, it’s just a mouth swab, not even blood work. For peace of mind alone, do the swab. Make sure there’s nothing you’re missing. Leave no stone unturned.
Of course, we all hope the results come back negative. But if they’re positive, then at least you know what road you’re on, and knowing that is everything. Because if you don’t even know the road exists, you can’t begin to support your child in the way they need.
It’s also important for parents to understand that genetic disorders don’t always come with visible signs. Your child can look completely typical and still have a rare condition. They don’t need to have physical differences to warrant testing. And while pediatricians or even neurologists may not mention genetic testing, that doesn’t mean it’s not worth doing. You have to trust your gut. If something feels off, pursue it. You don’t need a specialist’s permission to advocate for your child.
So many families receive diagnoses like autism, ADHD, or cerebral palsy—and those are real, valid diagnoses, but sometimes, they’re just one piece of a larger puzzle that only genetic testing can uncover. If your child has a genetic disorder, finding it early gives you the chance to monitor risks, seek targeted therapies, and connect with the right community.
So again, just do the mouth swab. The answers might change your entire path, and could be exactly what your child needs.
My greatest hope for Patrick is that he is happy, healthy, and safe. That’s what matters most. I want him to be the very best version of his Patrick self, whatever that looks like for him. We put so much into his growth, from therapy to swim lessons to gymnastics, and I truly hope all of that continues to help him make progress.
I believe Patrick is incredibly smart. Sometimes, because of his motor delays, it can be hard to see just how much he understands, but I know it’s all in there. Once we find the right tools to support his motor development, I think his knowledge will really come out. I can’t wait to see that unfold.
And it’s not just about Patrick. I hope the same for every child with this diagnosis that they each get the chance to become the fullest version of who they are. I hope every family finds the support, resources, and community they need to help their child thrive. That’s what this journey is really about: believing in our kids and doing everything we can to help them grow into their own beautiful, unique futures.
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