The SADS Foundation encourages families to take a medical history of their immediate and extended family. What follows is a prime example of why.

Patrei, a mother of three, didn’t know Long QT ran in her family until 2020, but her aunt Heidi was diagnosed in 1990. How could something like that happen? Easily. In fact, it’s common when family histories aren’t shared or fully understood.

Patrei explains: “The job Heidi had at the time required annual physicals and her EKG was not normal. That’s all they told her. That, and she needed to be seen by her primary (physician) to be cleared for work. Not by a cardiologist or EP, just her primary. Her primary told her she was fine and had nothing to worry about.”

“Her primary (physician) told her she was fine and had nothing to worry about.”

Sixteen years passed before her aunt received concrete answers and intervention. “In 2006 she wasn’t feeling well (it ended up being bronchitis and pneumonia) and her doctor did an EKG and her QT interval was in the 600s,” says Patrei. “She then decided to see an EP and her interval was still very high on another EKG and a stress test.”

Her history of falling asleep while driving was now interpreted as syncope. Her aunt and aunt’s daughter, who experienced syncope and a prolonged QT interval on an EKG, had ICDs implanted.

Another aunt (Heidi’s little sister) died in 1974 during lifeguard training. She had previously been diagnosed with epilepsy. The family now believes she had cardiac events that caused seizures, likely due to undiagnosed Long QT.

Fast forward to early 2020 when Patrei learned her aunt had Long QT Syndrome. “Heidi told me she had genetic testing and the kids and I should be tested as well,” says Patrei. Covid was raging at the time, so Patrei waited to be tested until Covid died down.

“She told me she had genetic testing and the kids and I should be tested as well.”

In October 2021, Patrei was still unaware she had LQTS but was about to find out. A month earlier in September, her ophthalmologist prescribed an antibiotic eye drop (Moxifloxacin) for a cornea tear. She obviously did not know this medication was on the CredibleMeds Drugs To Avoid list for congenital LQTS patients. (This medication causes a drop in potassium and is often how many LQTS patients find
out they have this condition.) As she began a workout on October 6th , she soon felt light-headed, dizzy, experienced a loss of hearing, chest tightness, and a feeling of intense heart pounding, though her athletic heart rate monitor showed a normal heart rate. A few days later on Sunday, when it took her 20 minutes to run a mile and a half she knew something was very wrong.

The next day her primary care physician ran an EKG and found a prolonged QT interval that made her revisit the conversation with her aunt. She thought: “This makes sense.” Genetic testing confirmed she has the genetic mutation (KCNQ1) for Long QT 1 just like her aunt. Further genetic testing revealed one of Patrei’s three children also has LQTS.

Since Patrei knew this would be passed by her mother, she discussed it with her. When Patrei’s mother was a child, she had a strep infection that caused rheumatic fever and heart complications, so her mother had a cardiologist all her life. But when her mother went to her cardiologist and shared about her daughter having Long QT, Patrei says, ”The doctor said she didn’t need to worry about it and didn’t think she had it. Soon after, he decided to put my mother on Flecainide which is also on the Drugs To Avoid list – and she had a reaction. The cardiologist conducted a stress test and caught a significantly prolonged QT interval.”

“Doctors can sometimes be dismissive.”

“Doctors can very clearly be dismissive of the facts, especially looking at my mother’s case,” says Patrei, who expresses the importance of self-education to appropriately and more effectively advocate for yourself and family rather than relying solely on information from doctors.

To date, Patrei has had four cardiac events – one a car wreck she was lucky to walk away from. She’s currently taking Nadolol, but that hasn’t returned her to life as it was before. “My quality of life is zero. I’m fatigued all the time. I haven’t been to the gym or done anything in well over a year, because I feel so lifeless.”

She sees clearly the need for more research and better treatment for Long QT Syndrome and all SADS conditions. That’s why shortly after her diagnosis, she held a fundraiser at the very gym where she had the last episode before diagnosis with the purpose of educating others on SADS conditions. SADS is grateful to Patrei for the fundraiser that benefited SADS and ultimately provides help for SADS families. She holds out hope that research will present a better future.

If you’d like to learn more about easy fundraising through SADS, click here for more information.