“I decided to join the RKDF team to learn more and to spread the word. I am so proud to help RKDF and be involved with one of the leading edges of medicine today.  I hope to be a research study patient for ADTKD.”

After finding the Rare Kidney Disease Foundation and Dr. Anthony Bleyer at Wake Forest School of Medicine we were so grateful and are feeling positive about future treatments. We never want another family to suffer as so many have, including our family… Dr. Bleyer and his team were a lifeline we needed so badly and we are eternally grateful for all of the efforts they have taken on to help families like ours.

We now have a beautiful 6-year-old daughter.  The worst part about my experience with this genetic disease is that even she is positive with the mutation. . . The only ray of hope I see is for my brother and me to get enrolled in the future clinical trials of the new compound. 

“Since Ed’s father had kidney disease, he started researching his family’s genealogy. He found links in every generation that he researched, showing nearly one hundred years of his family with kidney disease....

With the genetic testing with the Broad Institute he has finally found out the name of the family kidney issues. It is ADTKD—UMOD.”

“When visiting physicians, I was always asked, “What’s the name of your disease?” I would reply with, “there isn’t one. It’s being researched.”  Several years ago, we began correspondence and met with Dr. Anthony Bleyer. We learned from him that our kidney failure was genetic, and we now had a name for it, Autosomal dominant tubulointerstitial kidney disease (ADTKD) with the Muc-1 mutation.”

“We finally knew what we were dealing with. Others in my family could now get tested; they could be tested earlier rather than waiting for kidney decline, and if positive for the gene, they could be proactive about their disease progression; family members who now knew they didn’t have the gene could be considered as potential living donors to other family members. So, with that concrete diagnosis came indescribable hope.”

“Through Dr Bleyer and his team’s work I have hope for my family. Attending the family meetings, learning about others who have had many years and many family members living with ADTKD, meeting the people who research and communicate on this disease, seeing the formation of RKDF—all have been ongoing lessons in a world I didn’t know existed”

“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.“

“Seeing this is the future of how we will overcome this disease, I wanted to be involved. Hope is on the horizon for families and patients that have battled with this disease.”

“2020 turned out to be a year of hope for my family: we also learned from Dr. Bleyer's team that there was a name for the kidney disease that affected me and many others across multiple generations (MUC1)”

“Based on our family history and the presentation(increasing creatinine and a bland urinalysis with normal kidney scans) my niece was referred to Dr. Bleyer and was tested for a newly discovered genetic disorder that affects kidneys called Autosomal Dominant Tubulo-interstitial Kidney Disease. First she was tested for the UMOD variant. When it came back negative they tested her for the Mucin 1 type and just like that, the mystery of our family history of CKD that spanned over multiple generations was solved.”