In 2022, Patrick was diagnosed with an ultrarare genetic variant – CACNA1C – which can cause both neurological and cardiac symptoms. Today, Patrick is making incredible progress – and his heart is monitored, too, to prevent any future cardiac episodes. All of this is thanks to one little mouth swab that changed the trajectory of Patrick’s life – and a helping paw from a furry friend.

Learning Patrick’s “Why”

Patrick’s mom, Susan – who is a pediatric nurse – started taking Patrick to specialists after noticing motor delays around thirteen months. Her doctors didn’t seem too concerned, but she wanted to know what was causing his medical issues.

“When you start early intervention, the doctors aren’t really concerned about the ‘why’,” says Susan. “But as a mom, I needed to know. I’ve been a pediatric nurse for over 20 years, and I’ve never seen a Patrick before.”

Because Patrick couldn’t communicate, Susan wasn’t sure what was causing the motor delays: were his hands numb? Did he feel pain in his feet? From rheumatology to neurology, Susan took Patrick to every specialist she could think of – and finally ended up at a cardiologist’s office.

At two years old, genetic testing revealed a CACNA1C variant. “Our genetic counselor said that Patrick was one of only 46 people in the world she could find with this variant,” he says. “I went on Facebook and looked up the gene, and found a support group that changed our lives.”

Susan now gives back to the rare disease community as a board member at the Timothy Syndrome Alliance. Patrick hasn’t experienced any cardiac symptoms; but because the genetic testing let them know he could have heart issues, Patrick has regular checkups to make sure his heart is doing well, as well as proactive monitoring such as a Holter monitor.

“Our Genetic Counselor is Our Buddy in a Complex World”

Susan says that the genetic counselor they worked with – the first to give them Patrick’s “why” – has been a critical part of Patrick’s care team.

“Genetics is like French – even though I’m a medical professional, genetics is a whole different language,” she says. “Our genetic counselor is our buddy and our advocate in this complex world.”

Besides helping explain Patrick’s diagnosis, their genetic counselor also helps answer any questions Susan has after seeing Patrick’s provider – and even sends her research articles on emerging research about Patrick’s genetic variant.

A Helping Paw

Thanks to the organization East Coast Assistance Dogs (ECAD), Patrick now has a service dog, Yammy, who’s helped Patrick made incredible progress.

“Patrick didn’t use his right hand at all until we got Yammy – he learned to use his right hand through throwing a ball for his dog,” says Susan. “In the first week we had Yammy, Patrick learned how to do twelve new things. Yammy helps Patrick be more confident in the world – he’s like a big PT session. And he’s lightened everything up for our family.”

For families with a new diagnosis, Susan emphasizes how important it is to connect with others going through a similar journey – and also to find a specialist to connect with for your medical care.

“Since conditions like Patrick’s are so rare, you might be the only person with your condition that has a particular secondary symptom,” she says. “We did as much noninvasive testing with Patrick as we could to learn more about his symptoms.”

Susan also emphasizes how important it is for those who are affected by rare conditions – plus their loved ones – to take time to relax.

“You need to laugh and put your stress aside sometimes, so you don’t burn out – and your child needs those breaks too,” she says. “Living with a rare condition is a marathon, not a sprint.”

As for genetic testing and counseling, Susan will be forever grateful for the critical information and support she received from this process.

“You might think you have to wait for your doctor to suggest genetic testing, but if you have a hunch, a simple mouth swab can give you so much information,” she says. “I wouldn’t know that Patrick had cardiac risk without genetic testing – I wouldn’t even know what had caused his symptoms.”

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This article was developed in collaboration with The SADS Foundation. Learn more about genetic testing for heart arrhythmia conditions or find a cardiac genetic counselor in your area.

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