New City mom and nurse shares how she’s helping son’s journey with rare genetic disorder


Patrick Bresnahan was just one of the millions of U.S. babies born when the COVID-19 pandemic hit.

His mother, Susan Bresnahan, would learn later that she would not only have to deal with the stress of the pandemic, but an unknown condition impeding her newborn son’s development.

“That made it very tricky because I was very nervous about COVID, having people come to the house. If there is something, do I even want him to get the support right now during this crazy time during COVID? But he was delayed on all these milestones,” she said.

At 3 months, Patrick never rolled over; at 6 months, he wasn’t sitting up on his own and at 9 months, he wasn’t crawling.

Susan knew there was something wrong, and so at 1 year and 1 month, he started occupational therapy and physical therapy.

Finally, after her son’s 2nd birthday, Susan got the answers she was looking for: Patrick was diagnosed with a rare CACNA1C-related disorder.

“It was pure relief. Just to have, even though it was something that is so rare, just to have validation. You know there’s something wrong at 3 months and working in pediatrics for this long, I never saw a Patrick Bresnahan. I lost sleep for a year,” she said.

According to a blog post by Sophie Muir, the chair of Timothy Syndrome Alliance, “CACNA1C is a gene that provides the code for a protein found in cells throughout the body.”

“CACNA1C encodes for voltage calcium channels, which are the cellular channels that exist on the surface of pretty much all cells of your body and it controls, based on voltage, the movement of calcium in and out of your cell. It also impacts downstream signaling,” said Dr. Jack Underwood, the lead of Timothy Syndrome Alliance’s Scientific Advisory Board.

Once Susan received the answers she needed, she reached out to find guidance and support from other families who are going through the same thing and came across TSA on Facebook where she connected with Muir whose son Calvin also has a CACNA1C-related disorder.

“She’s really been a huge support. I felt very by myself. No one understands until you’re in it. She kept saying to me, ‘You’re not alone,’ and I was crying tears of joy. I had something that you can’t Google. It’s very scary as a parent and a nurse that there’s nothing to Google and you’re just looking at this little boy hoping you’re doing the best,” Susan said.

Timothy Syndrome was the first identified CACNA1C-related disorder and was first given its official name in 2004.

“CACNA1C-related disorder is a relatively new idea as a concept. You need a genetic test to identify it,” Underwood said. “The features you talk about are actually pretty common, so lots of kids have developmental delay, there’s lots of kids with autism. Not every kid with a CACNA1C-related disorder or Timothy Syndrome will have all of the features, so you talk about a big population, yet this is a very rare thing. It needs a very specific test to define.”

Underwood said that CACNA1C-related disorders are a spontaneous occurrence and happen when genes are not copied correctly.

On very rare occasions, a parent can pass down the CACNA1C pathogenic variant if it exists in a few of their cells, which is called mosaicism.

If neither parent carries it and it appears randomly, as in Patrick’s case, it’s called de novo.

Since CACNA1C-related disorders are a relatively new concept, Underwood said it’s hard to classify at this point in time how many there actually are.

As for Timothy Syndrome, there are two types.

“In Timothy Syndrome, you need the symptoms of Timothy Syndrome. You’re prolonged QT, you have prolonged repolarization of the heart, so when the heart beats that’s an electrical current moving through the heart causing all the muscle cells in the heart to beat together,” Underwood explained. “The cells have to normalize their electrical charge within the cell before they can beat again and in long QT that repolarization is slow.”

In addition to that, there’s also developmental delays, and can also include physical abnormalities, such as webbed fingers.

Underwood added that people with CACNA1C-related disorders  struggle to maintain their blood glucose and have had problems with digestion.

In some cases, it can take years to find out one has Timothy Syndrome because the speed at which humans’ heart beats declines over time.

“When you’re born, the heart beats much, much faster, double at the speed than it does as an adult, if not more, triple. The speed at which it repolarizes, charges, it changes,” Underwood said. “Kids’ heart QT, when they’re 5, 6 or 7, it might be normal, but as they get older, it might be a bit longer and that might suggest more of a Timothy Syndrome picture, which is why we’re moving towards considering it more as a kind of spectrum.”

This is something that has always been on Susan’s radar.

“This is my life. I’m always going to be checking his heart thinking of all these things,” Susan said.

Though there is no cure, there are medications, treatments and services to prevent the symptoms.

As for Patrick, he has a furry buddy named Yam, his service dog, to tag along with him on his journey.

“Since having Yam, as well as continuing all his services such as PT, OT, speech and attending a great school,  he has made significant progress in all areas. For example, Patrick was not using his right hand until Yam, and now he always throws the ball for him with his right hand and uses both hands equally,” Susan said.

Where can people get genetically tested?

The cost of genetic testing really depends on the type of insurance one has, but Susan said that if one is lucky one can get it done for free at a teaching hospital or look for grants.

She said that she is open to connecting with any families who are affected by genetic related disorders, and is always willing to help and advise of resources.

“I think it’s also important for people to know your child doesn’t need to necessarily have ‘a look.’ He doesn’t appear to have something funny and many pediatricians told me, ‘He’s fine,’” Susan said. “They quickly look at him, but you have to stick with your gut and you have to go with the right provider to listen to you because I definitely wouldn’t have a diagnosis if I didn’t go with my gut and just keep searching and finding the right doctors to help me.”

Underwood added that just because someone gets a diagnosis of a rare disorder, doesn’t mean it’s the end.

“It’s just kind of a fork in the road and it points you in a certain direction and you keep going. That’s where the community really comes in because it can help guide you and lift you up with people all over the world because when things are this rare you need to be working internationally with everyone to try to get everyone together,” he said.

“That’s the beauty of this community. Not everyone is a pediatric nurse and we can all help in our strengths that we have,” Susan added. 

The Timothy Syndrome Alliance is a charity in England whose mission is “to improve the diagnosis, treatment and care of individuals with CACNA1C-related disorders, including Timothy Syndrome and LongQT8.”

They are run by families, volunteers, and a team of volunteer scientists, researchers and medical professionals.

To learn more, please visit,


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