When the Diagnosis Comes: A Journey Through Shock, Grief, and Hope
When you first get a rare genetic diagnosis for your child, it’s like the floor disappears beneath your feet. As a pediatric nurse for 20 years and a mom of three, I knew something was off with my youngest son, Patrick. He didn’t move much. He didn’t babble or crawl. But he smiled—a lot! That smile was so full of joy and made me want to believe everything was fine. When our pediatrician also reassured me over and over, part of me clung to that. I wasn’t ready to face a new world of change but deep down I already knew something was wrong.
Thankfully, I have the best friends in the world. They kept gently pushing me to call Early Intervention. At 13 months, I finally did. That call started a rollercoaster of evaluations and appointments. I lost count of how many specialists we saw. Still, there were no answers and no diagnoses. I was always worried it was genetics because you can’t change genetics. I remember getting early results back, and I would tell my friends, “Thank God it’s not genetic,” as if that would’ve been the worst possible outcome. In my mind, genetics meant final. Unchangeable and permanent.
Then we finally got the diagnosis: CACNA1C-related disorder. Something I had never even heard of. And I remember thinking, Well… here we are. It’s genetics. And you can’t change genetics. But somehow you deal with it better than you ever thought you could. You move from fear to survival, and eventually, to a strange kind of peace. At first, I didn’t dive into research. I just sat with it. I was exhausted. I had been googling symptoms and obsessing over developmental milestones for over two years. Now that we finally had a name, there was nothing else to look up. Although it was terrifying, it was also in a strange way relieving.
Then, one morning at 5 a.m., I found a woman named, Sophie, on Facebook Messenger. She was another mother who had walked this path. I still remember her words when we spoke, “You are not alone.” And then, the words that changed everything, “I have a Patrick, too.” I didn’t know what to say. That one sentence filled my body with calm in a way nothing else had. She introduced me to other parents and researchers like Dr. Jack Underwood, and suddenly there was hope.
In the beginning, I wanted to hide Patrick’s diagnosis. I didn’t know who I was anymore. What category did I fall into as a mother? Even with my closest friends, I didn’t know how to talk about it. It felt like grief. I felt a loss of the future I thought we’d have and the loss of expectations I didn’t even realize I was holding. But over time, things shifted. Now I want to scream, “CACNA1C-related disorder” from the rooftops. I want the world to hear it for progress, connection, a chance at treatment, and ultimately for a cure. I want to be loud, so that when other parents get this diagnosis, they do not have to feel alone for even one second.
Just before receiving our diagnosis, we got a beautiful, incredible service dog named Yammy. It was unreal that when we finally did have Patrick's diagnosis we already would have a plan in place if Patrick was to start having seizures or cardiac episodes, which are some of the risks associated with CACNA1C. Among so many other things, Yammy can be trained to help with these situations if we need him to. Perhaps best of all, Yammy helps us spread awareness about CACNA1C!
Patrick is five now. Since he was 13 months he has been getting physical therapy, occupational therapy, and speech. His progress has been slow but at the same time amazing. He loves going to preschool and is doing more and more for himself. He now also goes to gymnastics and swim classes with neurotypical children and absolutely loves it. He is one of the happiest little boys ever!
Sometimes I wonder—what will he think when he’s older and Googles himself? Will he be embarrassed that his mom shared our story so publicly? But now I know that this is how I fight for him. This is how I make sure that he will be able to google himself when he is older. I pray he will see that his mom tried all she could to help him become the best and happiest Patrick that he can be. I also pray that he finds a community of parents, scientists, researchers, and friends who never stopped trying. And most of all, I pray that Patrick, like me, finds hope.
-Susan Bresnahan