May 19th 2021 – The day we heard the news: “I know exactly what Sunchit has, I will tell you about it, I just need a last confirmation” said Dr. S with complete confidence in the recovery room where Sunchit was waking up from a general anesthesia at Children’s Medical Center of Dallas. He had just gone through an MRI of his abdomen. Myself and Savita felt apprehensive and a bit confused. As Sunchit’s vitals were normal and he started talking to us after having a bit of ice water, the nurse entered the room and said we will roll him into his room where we were situated on the 5th floor, nephrology department.
We walked back to the room and anxiously waited for doctor to come, in about half an hour Dr. S walked to our room along with some of the on call and intern doctors. One of the intern doctor found a conference room on the same floor, with a projector. All of us settled down and then Dr. S declared to us that our son has ’Nephronophthisis‘. All his symptoms so far (very few) like him liking to drink excessive water, urinating a lot and very recently, feeling tired, combined with his genetic report and the MRI confirmed this diagnosis. It eventually took me a month to say the word Nephronophtisis clearly and without hesitation, but at that time, I did not know what this was and what Dr. S was saying. He then explained it to us in simpler terms, our 13 year old’s kidneys had failed by 80-85% (yes, he was still a month away from his 14th birthday), they were scarred and had a lot of small cysts. This meant only one thing, he had what is called “End Stage Renal Disease“. This condition is imbibed by a gene (NPHP4) that Sunchit has inherited from both of us (1 in 922,000 probability in USA).