Turner syndrome is a sex chromosomal abnormality that impacts approximately one in 2,500 females born in the population.
Turner syndrome results when one of the X chromosomes is partially or completely missing and the condition may present in various ways. For example, girls with this condition may be smaller, have scoliosis and potentially, problems with other systems.
When it comes to their cardiovascular system, girls with Turner syndrome may have kidney and cardiac problems and may require care from numerous specialists.
Faith Day, a student researcher at the Libin Cardiovascular Institute, was diagnosed with Turner syndrome at age 15.
When she was born, there was no indication that Day was anything but healthy. As she grew, she was smaller than other children her age, but doctors weren’t concerned.
But Day and her mom both felt something wasn’t right. As Day describes it, she felt like there was “a missing piece to the puzzle.” When nothing had changed in her growth and development by age 15, they spoke to Day’s new family physician, who agreed to send her for blood work.
Tests revealed that her hormone levels were imbalanced, and Day was sent for MRI (magnetic resonance imaging) of her pituitary gland to rule out a tumour. When those results came back normal, Day was referred to a paediatric endocrinologist. The encounter not only gave her the missing piece to her puzzle, but also provided her with purpose in the form of a dream to pursue a career in medicine.
Diagnosis leads to career decision
“She came in, introduced herself, and said, ‘I think I know what’s going on’,” says Day of her endocrinologist, adding it was a shock to get such a quick explanation. “She explained she was fairly certain I had Turner syndrome. In that moment… I knew I wanted to be able to do the same for others one day.”
Day hasn’t let her condition slow her down. At 5’1”, Day is a powerhouse. Not only is she a full-time student completing her undergraduate degree in biology at the University of Calgary, she has also spent the last six years in the lab of Dr. Satish Raj, MD, and loves volunteering her time at the Alberta Children’s Hospital.
Conference aims to empower girls and their families
Day is also organizing a conference to raise awareness about Turner syndrome, and to bring together medical experts and families impacted by the disorder. Her goal is to empower girls and families with the information they need to advocate for themselves.
“As a girl with Turner syndrome, I know there is a stigma and a lot of misinformation out there about the condition,” she says. “It is important for these girls and their families to hear from experts and learn about all the resources that are available to them. I want them to know that there are many options for both support and treatments and that they are not alone.”
Info for Butterflies will be held on July 12, 2024, at the Alberta Children’s Hospital. The conference will feature experts in cardiac care, endocrinology, physiotherapy and more. Day will also share her inspiring story and the things she has learned from her own journey.
Raj has known Day since she was in Grade 11 and says she has been involved in numerous projects in his lab over the years, including one involving neurocognitive testing for patients with Long-COVID syndrome suffering with brain fog. Raj is impressed with Day’s compassion.
“[Day] is very caring and empathetic,” he says. “This is a great attribute.”
If you want more information on the conference, or wish to register for Info for Butterflies, please visit this page. Speaker details will be continually updated on the site.
