When Kara Cameron put her four-month-old daughter, Bria, to bed one night in 2014, there was no indication or warning sign that five hours later, Bria would be fighting for her life.

That night Kara tried to nurse Bria, but she showed no interest in being fed. While Kara wasn’t overly concerned, she put her daughter to bed and watched her closely on the baby monitor. In the early morning hours, Kara noticed Bria’s breathing was rapid, and she became inconsolable. Kara immediately took her to their local hospital in New Glasgow, Nova Scotia.

By then, Bria had become unresponsive. Blood work results showed that her blood sugar level was dangerously low, and she was close to being in a diabetic coma. Bria was immediately airlifted to the IWK.

Upon arrival, Bria began having seizures. She was quickly intubated and placed on life support for three days while her care team ran numerous tests to try and determine why she had become so sick.

Although Bria’s health stabilized and she was able to return home weeks later, she would spend the next few months in and out of the IWK while her doctors continued to investigate the cause of her symptoms.

Sadly, when Bria was seven months old, she became critically ill again, and her family was told to prepare for the worst.

For 11 days, Bria received life-saving care in the IWK’s Pediatric Intensive Care Unit (PICU). Fortunately, Bria’s health improved. Unfortunately, they still didn’t have the answers they so desperately needed.  

The long and continuous search for a diagnosis was extremely hard on Kara and her family. “We had no idea what went wrong, why it went wrong and why she recovered,” shares Kara. “Everything was unknown, but we knew that she was incredibly sick.”

 The IWK arranged for genetic testing. Unfortunately, the results did not provide a diagnosis.

Although Bria’s health stabilized and improved over time, she suffered brain damage and required physical therapy and treatment to help her learn to walk, a milestone she accomplished when she was three years old. She is primarily nonverbal and relies on a limited vocabulary and sign language to communicate, but she is working on learning how to use a communication device. 

Bria also has severe muscle weakness and energy constraints that prevent her from going to school full-time or being physically active. Bria visits many specialty care clinics at the IWK, including physiotherapy, genetics, neurology, endocrinology, nephrology, orthopedics and developmental psychology, to name a few.

In 2017, three years after Bria’s first life-threatening medical emergency, Kara received the call she and her family had been waiting for—the IWK finally had a diagnosis. 

Because genetic testing is constantly evolving and new gene mutations are being identified over time, the IWK genetics team had Bria’s test results reanalyzed. This time, they discovered a match that wasn’t available when Bria was first tested. 

Bria has a rare genetic disorder called TANGO2 deficiency. Affected individuals, like Bria, experience episodes of crisis. There is no cure for this neurodegenerative disease, which means her health could worsen over time, but research is underway to better understand and treat it.

The diagnosis didn’t provide the relief Kara had hoped for. “It was hard not having a diagnosis for so long, but I had some sort of hope that she would grow out of whatever happened,” explains Kara. “When I got the diagnosis, I realized that she’s actually going to get worse, not better.”

Bria, now 10, loves spending time with her family and friends, especially her older brother Braxton, listening to music, dancing, playing with her dolls and horseback riding, which is part of her ongoing physiotherapy.

Kara is a member of the IWK Foundation Board of Trustees and the TANGO2 Research Foundation and has founded the Canadian TANGO2 Rare Disease Foundation. She is very committed to spreading awareness about TANGO2 and advancing research into this neurodegenerative disease.