I would like to share my young granddaughter’s struggle with Alport syndrome in the hope that we might locate a kidney donor match for her, and to raise awareness to the fact that it’s possible to be a live donor and save a life.
I have a wonderful, smart ten-year-old granddaughter who is in need of a kidney transplant. My granddaughter, Drew, is suffering from a very rare disease called Alport syndrome, which causes hearing loss and kidney failure, along with eye problems. This genetic disease, named for Dr. Alport who discovered it in 1927, is normally carried by females and presents more dominantly in males. But it has deviated from the norm, and has grown to full-blown proportion in my young granddaughter.
Drew first began showing symptoms at age five, when she was having repeated urinary tract infections, unusual for a small child. One day she said, “Mommy, I‘m peeing red.“ She was taken to her pediatrician, who discovered there was blood in her urine. At age six, several tests were run and she was diagnosed with Alport syndrome. At that point her hearing began to steadily decline, and within a year, her hearing had deteriorated so much that she needed hearing aids.
Alport syndrome is most likely carried in my family, since I lost a brother at age 6 to kidney failure, and also a female cousin at age 19. When my brother and my cousin died, their disease was undiagnosed, probably because Alports is such a rare disease and dialysis was a relatively new treatment.
Had my granddaughter‘s disease followed a more “˜normal‘ progression, her kidney failure would not have occurred until early twenties or later. However, in the summer of 2013 her kidney function began to spiral downward. On December 3, she was taken to the emergency room with severe high blood pressure and chest pain, all of which signified that her creatinine levels were rising and her kidneys were failing. At this point, she is too weak to complete full school days, and is therefore attending school only half-days. Her body is retaining fluids and she tires very easily.
Drew has now been referred to a kidney transplant team, and we are actively searching for a live kidney donor for her. She is expected to be in end-stage renal failure by this summer, and will need to begin dialysis if a kidney donor match has not been found.
Many people don‘t realize that it‘s possible to donate one of their kidneys to save a life.
Thank you,
Sharon Merin
