Many people ask how this started or how we realized something was wrong. Kaylin was a seemingly healthy 13-year-old. About a year ago, we started to notice that she was drinking more fluids. She was drinking her drink, my drink, his drink, lol. She would get up in the morning and sometimes in the middle of the night and chug water. One night she came into our room in a panic because her hand was in a cramp. It stayed cramped up like a claw for 45 minutes to an hour and we just tried to rationalize it and calm her down. She was a child that NEVER would vomit, but started to get the dry heaves in the morning….almost like an esophageal spasm (she still has this quite a bit). These were small things and really not obvious at the time, but thinking back now, it all makes sense.
We made an appointment with the nurse practitioner that she and I both see. She immediately ordered blood work that day. Fast forward — her blood work came back crazy. Her parathyroid hormone was alarmingly high and her calcium, iron, vitamin D, and red blood cell counts were super low. Several tests — blood draws, ultrasounds, urine collection were done and referrals to an endocrinologist and a nephrologist at Randall Children’s Hospital were made. The endocrinologist saw her first and made a diagnosis of a genetic disease of pseudohypoparathyroidism type 1B (which requires one medicine, once a day), but she said to continue with the appointment with the nephrologist because it affects the kidneys. The appointment the following Monday was a huge blow, because we were told that diagnosis was false — Kaylin’s kidneys were actually failing.
Since that time (May 2016), we have been getting her stabilized and adjusting to this new way of life. She went from never taking medicine to taking 20+ pills a day, plus injections and a restricted diet. We still don’t have a concrete diagnosis or cause for her kidney disease. Her biopsy confirms it is likely a progressive genetic disease, possibly nephronophthisis, but we would need genetic testing to confirm it. Both of our insurance companies have denied covering the genetic test, saying it is investigative and there is not enough published data to support it.
We are not sure how fast this will progress. She is currently at about 30% function and we are hoping that we can make it another year or so before transplant. The goal is to find a donor and have that lined up, so that she won’t have to do dialysis. We will start the transplant process when she starts to show more signs of decline. We obviously want to use the kidneys she has as long as we can. Things aren’t perfect after transplant either — there is the stress about rejection, plus transplanted kidneys only last 10-15 years, typically. Corey and a few other people are currently being screened as donors and we are hopeful to find a match.
We have been overwhelmed by this diagnosis, but are in good hands both here, locally, and at Seattle Children’s Hospital.
Thank you for reading our story.