Reflecting back on the day her daughter was born in September of 2012, Cassandra Vandusen noticed right away that something wasn’t right.
“When I got to see my beautiful baby girl for the first time, my heart sank,” she said. “I realized she looked different than my son did. She had excess skin around her neck, puffy hands and extremely narrow hips compared to her shoulders.”
Five days later, Cassandra and her husband Brad learned their daughter beat remarkable odds by surviving beyond birth. She was diagnosed with a rare chromosomal disorder, called Turner syndrome, which affects only females and has a 99 per cent mortality rate in utero.
The one per cent of girls who survive birth don’t produce the normal amount of estrogen, which means they are often short in stature. They may also experience a host of other health problems, including heart and kidney abnormalities, as well as hearing and learning problems.
After the diagnosis, Blayke was referred to BC Children’s Hospital for specialized care. Just three weeks later, she was diagnosed with a heart defect known as coarctation of the aorta, a narrowing of the body’s largest artery.
Blayke underwent heart surgery, which was a success. And days later, her family was able to see her loving personality shine. Cassandra recalled how their daughter went from sleeping 21 hours a day, to just 12 hours.
“We didn’t realize how sick she was until we saw her thriving after her heart was repaired. It was then that we truly got to meet our daughter.” — Cassandra, Blayke’s mom
That was, however, just the beginning of the family’s journey with BC Children’s—one that would see countless trips to the hospital made over the years from complications of the condition. A simple cold when Blayke was three, for instance, became so severe that she stopped breathing. She was admitted to the pediatric intensive care unit, and hours later, was rushed into surgery to have a tube inserted into her airway to help her breathe.
Blayke recovered, but her health challenges became more complex. In 2017, an MRI revealed that in addition to the first heart defect, she had two more: bilateral superior vena cava and partial anomalous pulmonary venous return. Blayke had to undergo an open-heart surgery, in which her heart was stopped for almost an hour while areas of it were reconstructed.
Once again, Blayke managed to bounce back quickly. Since the procedure—as well as procedures to remove her tonsils and reconstruct portions of her ears—her health has greatly improved. Blayke currently manages her condition with growth hormones and continues to be seen by a multidisciplinary team ranging from endocrinology to cardiology at BC Children’s Hospital.
While incredibly grateful for the care Blayke has received, the Vandusens say that their biggest challenge is still the unknown that comes with a rare condition.
“It’s a constant worry and something we struggle with daily,” Cassandra said. “Every time Blayke gets a cough, we wonder if she’s going to be intubated. Or if she runs and has to crawl to the ground to catch her breath, we ask ourselves if it could be another heart issue.”
Still, the sassy and bold seven year old is doing everything she can to live her life to the fullest—which includes plenty of horseback riding, bike riding and video games.
“Blayke may never be able to conquer Turner syndrome fully, but she fights every day to make sure it doesn’t stop her from being her,” Cassandra said. “BC Children’s Hospital is helping make that possible.”