At the age of only nine months, Laura had a urinary tract infection. This led to an ultrasound that showed 'bright' kidneys. Laura was referred to a paediatric nephrologist and had many tests, without a clear answer to explain the abnormal appearance of her kidneys.
Genomic testing was provided to Laura through Melbourne Genomics' Genetic Kidney Disease clinical project in 2018, when she was three years of age. This testing resulted in a diagnosis of autosomal recessive polycystic kidney disease (ARPKD), a degenerative kidney disorder that is inherited only when both parents carry the gene change responsible. There is usually no family history of the condition.
"It is a devastating diagnosis," say Laura's parents, John and Karen. "It's not what anyone wants for their child, but knowledge is also empowering. The diagnosis allows us to be vigilant for related complications and possibly the opportunity to slow the rate of kidney degeneration. More broadly, it has prompted us to focus on our priorities in life and informed family planning decisions.”
Without access to genomic testing, Laura’s kidney specialist believes her condition would have remained undiagnosed.
Genetic kidney disease affects about 3% of the Australian population. One in seven adult Australians have chronic kidney disease and up to 20% of this may be genetic in origin. Although there is no cure for Laura's condition, early identification and proactive treatment can slow the progression of genetic kidney disease and delay the need for dialysis and kidney transplantation.
Melbourne Genomics' Genetic Kidney Disease clinical project found that genomic testing for patients with suspected genetic kidney disease leads to more definitive diagnosis and has a substantial, quantifiable impact on care.
We sincerely thank Laura and her family for sharing their story.