Eight-year-old Elizabeth is known as being the life of the party, so it was clear something was off when she was extremely tired and just not herself. A red flag in her bloodwork took her family to the Alberta Children’s Hospital, where further bloodwork was ordered to pinpoint exactly what was happening. Pediatric rheumatologist Dr. Johnson and the nephrology team explained Elizabeth’s kidneys were “not happy,” and it was a serious situation.
Following a kidney biopsy, Dr. Johnson was able to confirm Elizabeth’s diagnosis of a rare autoimmune disease that causes inflammation of the blood vessels: Anti-neutrophil cytoplasmic autoantibody (ANCA)-associated vasculitis, specifically, granulomatosis with polyangiitis (GPA). Elizabeth’s level of creatinine – the waste product from protein digestion – was dangerously high, indicating her kidneys were not doing their job of filtering and cleaning. The blood work revealed that she was at less than 10 percent kidney function. The biopsy revealed 40 percent of the filtering tubules were permanently damaged, 10 percent would return to normal, 50 percent were in the process of dying and it wasn’t clear how much would come back with treatment. Her condition was considered severe by their nephrologists, Dr. Ding and Dr. Midgley. “The way I ended up explaining it to Elizabeth is that the things that normally fight infections – our antibodies – are a bit confused and they are attacking her organs instead,” says Elizabeth’s mom, Melissa.
Their team at the Alberta Children’s Hospital was quick to get her started on treatment. First, she had a blood transfusion, as her hemoglobin was so low, it wouldn’t have tolerated the next step of the process – seven rounds of plasmapheresis, a procedure which essentially removes the plasma from her blood because the plasma is where the ANCA antibodies are. She also started high-dose steroids to reduce inflammation and hopefully prevent any further damage to her organs. “Picture 30 percent of a person’s body weight being gained in a week; on a 54-pound frame body,” says Melissa of the steroid treatment. Lastly, Elizabeth is on a very new drug that helps control the inflammation response of the immune system. For now, this combination of treatments has prevented Elizabeth from needing dialysis and she has been well enough to return part-time to school and her extracurriculars – swimming, wrestling and Brazilian Jiu-Jitsu.
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Since her diagnosis two months ago, Elizabeth and her family have been adapting to life with vasculitis. One of the hardest things with autoimmune diseases, says Melissa, is there’s not really an answer as to why someone’s immune system starts attacking their own body. However, the family feels well supported and in good hands with their team at the Alberta Children’s Hospital, who was able to catch Elizabeth’s rare diagnosis quickly and get her on the treatment she needed to start on a path back to health.
