How genetic counselling helped a young girl's journey towards a rare diagnosis
Summary:
After months of uncertainty, genetic testing helped Arvven’s family find answers, with a genetic counsellor helping them understand what it meant for their daughter and their family.
Arvven is your typical five-year-old, with a bubbly personality, a love for dancing and making conversation with her parents, teachers and friends. “She’s always happy,” says mom, Zahide.
That’s why her parents became concerned in the fall of 2025 when Arvven complained of pain and fatigue after a day in daycare. Thinking she may have caught a virus, they took her to their local emergency department, where blood and urine tests unexpectedly detected proteinuria, a condition where protein appears in the urine.
Over the next couple of months, follow-up tests produced mixed results, sometimes showing proteinuria and sometimes not, despite other test results also indicating Arvven’s kidneys were healthy. When another emergency department visit in January 2026 again showed protein in Arvven’s urine, her parents wanted answers.
For Zahide, who had recently learned she was pregnant again, the uncertainty was especially difficult.
“After going through multiple miscarriages before we finally had Arvven, and now pregnant again, this was very stressful for me,” says Zahide. “I just wanted answers for my daughter.”
A nephrologist at their local hospital suggested a kidney biopsy, but her parents were concerned about putting their young daughter through the procedure. “She is young and afraid of needles, especially after all the blood tests,” says Cetin, Arvven’s dad. “We asked the nephrologist if there were any other options and she said we could get genetic testing done for Arvven.”
The family was referred to SickKids’ Nephrology Clinic, which offers genetic counselling as part of its service. That’s where Arvven and her parents met Jackie Leonard, a clinical genetic counsellor with a specialty in nephrology.
What genetic information can mean for a family
Genetic testing involves taking a sample of a patient’s DNA to screen for genetic conditions. Genetic counsellors help patients and families understand the testing process, interpret the results and consider what the findings may mean for their child and family, including future family planning.
“When a nephrologist thinks a patient’s history might be related to a genetic cause and refers to me, I connect with the family and become a primary point of contact,” says Leonard. “I help them understand what’s going on, why their child might be suffering from an illness, and to provide support from an emotional aspect as well.”
Leonard is one of a team of genetic counsellors working across SickKids, including within specialized clinical programs, laboratories, and research, helping patients and families understand genetic information and what it may mean for their care.
In her consultations with the family, Jackie learned about their journey, concerns about a biopsy and the stress of trying to find answers before their second child was born. “I explained that with genetic testing, we could get answers beyond what a biopsy can offer and really see what’s happening with Arvven’s kidneys,” says Leonard.
Later that summer, genetic testing provided the answer Arvven and her parents had been waiting for: Arvven had CUBN-related familial benign proteinuria, a rare inherited condition caused by two non-working copies of CUBN genes.
“CUBN-related benign familial proteinuria is a manageable condition and it is not expected to lead to progressive kidney disease” says Leonard. “We’re also doing genetic testing with her parents to give us a full picture of Arvven’s genes, and it will be helpful for their second child as well.”
Support beyond the diagnosis
Arvven’s experience is one example of how genetic information can help health-care teams better understand an individual patient and make more informed, precise decisions about their care. It’s one part of Precision Child Health, SickKids’ approach to tailoring care based on each patient’s unique characteristics and circumstances.
While her care now involves regular follow-up through the Nephrology Clinic, Arvven can continue living her best five-year-old life, dancing around her home and looking forward to welcoming her younger sibling later this year. It also provides peace of mind for her parents, who now understand what health risks may lie ahead for their next child.
“At the next appointment, I want to bring Jackie some baklava,” says Zahide. “She was so understanding when we first emailed each other. I would email her questions all the time and she always responded. When we finally met in person, I gave her a big hug. She is like family to us now.”