A genomic test pinpointed the reason why Scott developed kidney stones every year since his teens. Now, with his diagnosis, he has a way forward.
When Scott was 13 years old, he began developing kidney stones. While he would develop them regularly, doctors didn’t indicate it was a symptom of anything significant.
He continued to have 1-2 kidney stones a year until his early thirties, when the stones he developed grew significantly in size.
After Scott underwent laser surgery to remove the stones in his kidney, his surgeon referred him for a round of investigative testing. During this time, he discovered his kidney function had dropped to 30% and that he had Coeliac disease.
As he grappled with Coeliac disease and his kidney condition, Scott’s nephrologist began to suspect that the cause of his chronic kidney disease may be genetic.
Genomic testing for genetic kidney disease was not widely available, as it was not yet funded by Medicare.
Scott was finally able to receive genomic testing last year, which resulted in a diagnosis of a rare genetic disorder known as primary hyperoxaluria.
Individuals with primary hyperoxaluria have excess levels of a substance known as oxalate in their bodies, leading to a build-up of oxalate crystals in the kidney and liver.
The diagnosis provided Scott with a way forward, both in his care and in his ability to live his life knowing what he has. While the long-term solution for primary hyperoxaluria is a combined kidney and liver transplant, his diagnosis has enabled his doctors to slow the progression of disease.
Scott found his diagnosis has had a profound impact on his life, as not knowing the cause of his condition was difficult, and that he was often inconsolable, running through worst-case scenarios.
Scott is now taking vitamin B6 supplements, as studies have shown some of the genetic variants that cause primary hyperoxaluria respond well to it. He has experienced a drop in oxalate levels since, which is key to both delaying his need for a kidney transplant and ensuring that should a transplant happen, it is successful.