9-year wait: POTS diagnosis comes after hundreds of tests for Regina woman

Katherine Kay spent almost nine years waiting to find out what was making her sick after falling ill as a child, until she was finally diagnosed in 2016 with a nervous disorder which has no cure.

Katherine Kay was diagnosed with POTS in 2016, which gives her an elevated heart rate when standing

Katherine Kay receives a twice-weekly treatment at a Regina hospital. (Submitted by Katherine Kay)

Katherine Kay has spent nearly nine years waiting to find out what was making her sick.

When Kay was 10, she fell ill while on a trip with her family. The Regina woman experienced dizziness, lightheadedness, exhaustion, even fainting. 

Kay, 20, has undergone hundreds of tests and seen dozens of specialists in and out of Saskatchewan over the years.

Finally, in 2016, Kay was diagnosed with Postural Orthostatic Tachycardia Syndrome, or POTS — a disorder of the nervous system.

Orthostatic means standing up; and tachycardia means excessive heart rate, said Dr. Zaaem Siddiqi. Siddiqi teaches at the University of Alberta's Medical School and is of Canada's foremost experts on POTS. 

"When they stand up the heart rate increases, they feel palpitations, pressure in their chest, and about a third of them faint after standing for sustained periods," he said.

Symptoms can also include nausea, weakness in their limbs, blurred vision, and shortness of breath. The blood doesn't circulate properly to the brain or organs and can pool in the legs.

With so many symptoms, it's difficult to diagnose, Siddiqi said, and there are other complicating factors.

"It's difficult to put together because often these patients have symptoms of anxiety, some have depression, and many are initially diagnosed with a psychological condition," he said.

Postural Orthostatic Tachycardia Syndrome

POTS was first officially identified in the 1990s at the Mayo Clinic, but the syndrome is much older than that. 

According to the Mayo Clinic website, POTS was first described during the American Civil War. Soldiers that complained about dizziness and fainting were said to have Civil War Syndrome. Many believed soldiers were simply anxious and frightened about fighting. 

For Kay, living with POTS is difficult.

"If I'm just going to be honest, POTS sucks," she said. "I'm a teenager, I want to go out with my friends, I want to go dance, but a lot of my life has been in the hospital, or stuck in bed." 

I want to go out with my friends, I want to go dance, but a lot of my life has been in the hospital, or stuck in bed.- Katherine Kay

Now that Kay has a diagnosis, she's getting twice-weekly treatment at a Regina hospital. She started out on Albumin Infusion Therapy.

Albumin is a natural protein made by the liver, often used for treating cardiac patients. But after many months of the treatments, Katherine is trying a different therapy that is similar to saline or electrolytes.

She spends about 15 hours a week at the hospital taking treatment intravenously. Both treatments help to increase the blood volume or water in the blood, which increases the circulation in the body. 

Siddiqi first tried the Albumin treatment on a POTS patient five years ago with success, but not everyone can take the therapy, he said.
Kay spends 15 hours a week at the hospital taking treatment intervenously. (Submitted by Katherine Kay)

"It's not a permanent solution and it's not a cure," said Siddiqi.

"It gives them temporary relief so they can become active, increase their endurance, allow them to do aerobic exercises and that will have a sustained effect on POTS."

Kay says the treatment has definitely improved her life but she wants more information about her relationship to this syndrome — she wants genetic testing. 

In Saskatchewan, that can mean a wait of two to three years. 

Her mother, Holly Allison Kay, believes that's too long, especially after waiting nearly nine years for a diagnosis.

The Kay family is paying a U.S. company about $4,500 USD to do the genetic testing on the entire family.

"Yes, it's expensive, but you'd do anything for your child," said Holly.

She said genetic testing is slightly more complicated for the family, because Katherine is a triplet. Genetic testing usually involves the parents and the child. But in this case, the company will be looking at Katherine and her two sisters.

The Kay family has been told they could have results and an answer by October, but Holly thinks that could be optimistic. 

"They asked us to send a copy of Katherine's medical file," she said. "Her file is 7,000 pages long. This could take a while." 

POTS causes Kay to feel feel palpitations and pressure in her chest. Some people with POTS faint after standing for sustained periods. (Submitted by Katherine Kay)