Currently, there is no cure or treatment for MUC1.  Failing kidneys lead to dialysis and then to transplant. At the Autosomal Dominant Tubulointerstitial Kidney Disease (ADTKD) Family Day in Winston Salem in September, a TED talk by Dr. Anna Greka presented the advances that are being made at the Broad Institute in Cambridge, Massachusetts, a research organization of MIT and Harvard.  With the advances being made, transplant as the only solution to kidney failure may change sooner rather than later.

Richard founded the Rare Kidney Disease Foundation (RKDF) in 2018 to expand awareness to find the estimated tens of thousands of undiagnosed patients in the U.S., build a strong patient and medical team community, and advocate for ADTKD patients and families.

I am very grateful to Dr. Anthony Bleyer and his team at Wake Forest School of Medicine who also partner with the medical staff at MIT's Broad Institute for their dedication and hard work in isolating this gene. We now have answers to this baffling disease, which provides hope to all of us who are affected by these rare kidney diseases. 

“From then, my primary care doctor said, obviously, there’s something genetic.. we didn’t know what it was called. We didn’t know what it was because there just wasn’t enough information on it.”

My goal is that through Dr. Bleyer’s research, there will be some kind of treatment that can halt or delay the progression of my children’s disease and help maintain a healthy kidney function, and as a result, a healthy family life.

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.”