For paediatric doctor Cara, understanding the cause of her son’s kidney disease was crucial.
I remember the obstetrician looking at my 20-week antenatal scan and going, “Whoo, those kidneys are bright!”
After that, I had genetic testing via amniocentesis and regular ultrasounds for the rest of my pregnancy – but aside from bright spots on the kidneys, everything seemed normal.
Then Edward was born – and his Day Five renal scan showed multiple cysts on his kidneys. That news was really hard to hear, because I’d allowed myself a glimmer of hope. But knowing the cause of Edward’s kidney disease was important, because that would give us an idea of his prognosis and what kind of care he’d need.
Cathy Quinlan, the nephrologist at The Royal Children’s Hospital, organised whole genome sequencing for Edward, me and my husband Steve. The test found two genetic variants in Edward: one known to cause cystic kidneys, and the other of unknown significance.
Genomic testing gave us a diagnosis of autosomal dominant polycystic kidney disease. It was actually the best diagnosis we could get – because it means Edward’s kidneys aren’t likely to fail during childhood. We also know that his disease-causing variant wasn’t inherited, so our other son Henry is unlikely to have the same problems. Meanwhile, researchers are investigating the significance of the unknown variant.
Right now, Edward’s living his best five-year-old life. He’s a happy kid and full of beans. The diagnosis made it possible for us to stay on top of his condition with regular monitoring.
As a paediatric doctor and as a parent, genomic testing has the ability to give us answers we really need.