When my son was born, there were already tiny cysts growing in his newborn kidneys. I knew there would be a 50 percent chance that I would pass on ADPKD to my son, but as I lived a symptomless childhood I did not expect that we would run in to problems so soon.
As a first-time mother I was struggling with feeding issues and my son struggled to gain weight. After several trips back to the hospital I had this awful feeling that something wasn’t quite right. I had noticed rust-like stains in his nappies, which was brushed off by the doctors and nurses.
Eventually he was re-admitted to hospital with a UTI where they failed to get blood after several attempts to take blood from his tiny veins. I had to hold him in a scrunched-up ball as he screamed and the doctors proceeded to perform a lumbar puncture. They wanted to be sure his recently diagnosed UTI had not spread. The antibiotics cleared the infection and after a few days we were released to go home. When the antibiotic course had finished it all happened again, rusty nappies, and an immediate urine test confirmed another UTI. I was a nervous wreck.
An ultrasound confirmed my worst fears, cysts in his tiny kidneys. When the nurse went to get the doctor, he explained there was another issue with my son’s kidneys that he could not explain. It was decided my son has ADPKD and nephrocalcinosis, which is where calcium deposits build up in the kidney. A very rare combination. I felt sick, helpless and alone. And guilty. Guilty that I had passed this condition on to my son.
Now PKD was affecting me in a way it had never done so before. This feeling of guilt and worry for my son’s health was far worse than the UTI’s, painful cyst infections, cyst rupture and pre-eclampsia I had suffered due to my own PKD.
My dad had survived an aortic aneurism caused because of high blood pressure associated with his PKD. My grandfather required a kidney transplant after he sustained a kidney injury sending his cyst ridden kidneys into failure. Yet it was only until I had my son that I began to worry about the future. I want to be around as long as possible for my family and I don’t want my son to suffer like my family members have.
Despite these fears I need to have hope. Hope for better knowledge and treatments and hope for a cure. I began working at the PKD Foundation of Australia and whilst it is hard to think about PKD every day I get to see the great research that is being funded and I realised that I can make a difference, by sharing my story and spreading awareness.