My experience with UKD, Uromodulin Kidney Disease, began when my mother became ill in her sixties (I was in my twenties) and needed to prepare for dialysis. Her doctor advised that she was not a good candidate for a transplant and that her kidney failure was caused by high blood pressure. Unfortunately, I was not aware of UKD at the time and she lived until age 72, when she passed away from kidney failure. My maternal grandmother also died from kidney failure when she was in her forties, as there was no treatment at that time. It seems likely they both had UKD.
A few years after my mother passed away, when I was in my early thirties with four young children, I learned that I had UKD through genetic testing recommended to me by a doctor at Columbia Presbyterian Hospital in New York City. My husband was doing online research on UKD and made the connection with Dr. Bleyer of Wake Forest University. It was upsetting to learn that each of my children had a chance of having the same mutation. I did not want them to have the same experiences I did, including being anemic, the constant fatigue, hoping for a kidney donor and taking almost one year to recover from the transplant. My husband and I struggled over whether to have our four children tested. We prayed about it and decided to have them tested. We learned that our youngest daughter had the mutation. She was 4 years old when we found out. She started her yearly routine visits with a pediatric nephrologist from Cornell Weill Hospital in New York City and now at 19 is a healthy college student who so far thankfully has not exhibited any signs of having kidney disease.
UKD has impacted my family’s life by making us more proactive regarding our medical health, more aware of the necessity of doing our own research, being our own advocate and using preventative measures to keep from becoming ill. We have also been impacted by the amount of help we received before and after my transplant. We learned how many people were willing to help and we learned to accept help, even when it sometimes felt uncomfortable. We had a few offers of kidney donations and my husband’s uncle ended up donating his kidney, for which we were all very grateful. Recent medical research allowed me to have the transplant, I had a very active immune system and if it was not for the brand new treatment being used at Cornell Weill, I would not have been a transplant candidate.
We hope that in the future, for our daughter’s sake and for other people who have UKD and other rare kidney diseases like MUC1, that there will be a cure and they will not have to go through what I and many others have been through. My outcome is much better than the one my grandmother had, I was able to see my children grow up, and I am hopeful there will be a cure in the near future. Having a transplant is not a cure, it is a lifelong treatment, and while I am extremely grateful I was able to have the transplant, it would be wonderful if people with UKD and other rare kidney diseases like MUC1 could be cured.