My Experience with ADTKD-UMOD and as a Two-Time Kidney Transplant Recipient, by Kathy Stankus
My experience with my genetic kidney disease, Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) - Uromodulin Kidney Disease (UMOD), 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 ADTKD-UMOD at the time. My mother 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 ADTKD-UMOD.
When I was 36 years old and raising four young children, I learned that I had ADTKD-UMOD through genetic testing recommended to me by a nephrologist at Columbia Presbyterian Hospital in New York City. It was hard for me to advocate for myself and find information about my rare disease when I was feeling tired, unwell, and overwhelmed by my diagnosis. I was fortunate that my husband did online research about ADTKD-UMOD and made the connection with Dr. Bleyer of Wake Forest University. It was very upsetting to learn that each of my children had a fifty percent chance of having the same genetic mutation I did, which would eventually cause their kidneys to fail. I did not want them to have the same experiences as me, including being anemic, feeling constantly fatigued, and worrying about finding a kidney donor. My husband and I struggled over whether to have our children tested. We prayed about it and decided to have them tested. We learned that our youngest daughter, Emma, had the same genetic mutation as me. She was 4 years old when we found out and started yearly routine visits with a pediatric nephrologist from Weill Cornell Medicine in New York City (she is currently 21 years old and thankfully has not exhibited any signs of having kidney disease).
Two years after being diagnosed with ADTKD-UMOD, at age 38, I was ready for my first transplant. I was fortunate that several people offered to donate a kidney to me and I was able to have a preemptive transplant. My husband’s uncle, Terry, ended up being my donor. It was a big adjustment for me after the surgery, as I did not tolerate the medication well, could not eat, and lost a lot of weight. I was still anemic, but once my body adjusted to the medications after several months, I felt better than I had before the transplant. My transplant lasted for 17 years before failing.
At age 55, I was again fortunate to have a preemptive transplant with my second oldest daughter, Christa, being my donor. The recovery from my second transplant was easier than my first transplant. The time it took me to recover and adjust to the increased amounts of medication was less. I was also no longer anemic. I did have some other issues after the surgery which made things difficult, including orthostatic hypotension (a type of low blood pressure that occurs when standing up after sitting or lying down, causing a drop in blood pressure and potentially leading to dizziness or fainting) and tachycardia (a condition where the heart beats faster than normal, typically at a rate exceeding 100 beats per minute in adults). Overall, I felt better than before my second transplant. I am very blessed to have had two people donate a kidney to me, and I will always be thankful for them.
ADTKD-UMOD has impacted my family’s life by making us more proactive regarding our medical health. It has made us more aware of the necessity of doing our own research, being our own advocates, and using preventative measures to keep from becoming ill. My family and I were greatly impacted by the amount of help we received before and after both transplants. We learned how many people were willing to help, and we learned to accept help, even when it felt uncomfortable.
Having ADTKD pass through four generations of my family has given me a unique perspective on life. It has devastated me at times, but it has also given me determination to do all I can to see this disease vanish. With each generation there has been developments of better treatments and an increase of awareness. My mother had a better outcome than my grandmother. I had a better outcome than my mother. And now I want to do all that I can to ensure my daughter has a better outcome than me. I became involved in the Rare Kidney Disease Foundation (RKDF) over two years ago to help find more patients with ADTKD for upcoming clinical trials for a possible treatment to halt this rare kidney disease, raise awareness, and be an advocate for others with this disease. 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 that I was able to have two transplants, it would be wonderful if people with ADTKD and other rare kidney diseases could be cured.
Kathy Stankus (left) with her first kidney donor, her husband’s uncle, Terry Ratnecht (right)
Kathy Stankus (right) with her second kidney donor, her daughter, Christa Stankus (left)
