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Johnathon was diagnosed with genetic FSGS at the age of 9. In July of 2024 Johnathon was referred to a nephrologist because he had 3 checkups in a row with his pediatrician that showed high blood pressure. When his pediatrician referred him, she also took a urine sample and found protein in his urine. Little did we know the rabbit hole of tests with no answers that would lead to.
Through all of this he is still a happy go lucky kiddo with an amazing personality and a huge heart.
After a 24 hour blood pressure monitoring it was determined that all of his readings were normal and he didn’t have high blood pressure but we still didn’t know why he was dumping protein into his urine so the nephrologist ordered more urine tests and tested for everything she could think of but they all came back negative.
As the protein dumping continued, she ordered blood tests, testing for everything she could think of again, even HIV and hepatitis C and still everything was negative but at this point we could see it was affecting other things as well because there were multiple tests showing abnormal levels. At this point she sent Johnathon for an ultrasound of his kidneys and then a DMSA scan of his kidneys and still no answers as to what is causing this.
We were all frustrated and it was looking like a biopsy was going to be our only option for answers. His nephrologist asked if we would be willing to try genetic testing first to see if we could get an answer and that was done a week before his 9th birthday.
The week after thanksgiving, we got the call from his nephrologist that his genetic testing results had come back and he has a genetic mutation on his PAX2 gene and his doctor said the she and her team agree that with this result they feel confident diagnosing him with the genetic form of FSGS.
He has now been on lisinopril to try to slow down the protein dumping but we have not reached remission yet. He has also been categorized as stage 2 CKD because his kidney function is currently 87%. His nephrologist and her team have never seen this disease before so all we can do is continue nephroprotective measures and watch him closely to try and keep his kidneys functioning for as long as possible. Unfortunately, with the genetic form of this disease steroids and immunosuppressant therapy does not work so all we can do is hope to slow it down.
Through all of this he is still a happy go lucky kiddo with an amazing personality and a huge heart. He has a huge family support system and we are all prepared to give him a kidney when he needs it. We are hopeful that a cure will be found and he won’t need it but if he does there are plenty of people ready to step in.
