Carla (Charley) White (pictured in middle above) with her husband, sister, niece and oldest daughter.
There are four generations identified in my family thus far as having the genetic mutation, MUC-1. MUC-1 is a genetic mutation occurring in both kidneys that repeats itself like clockwork at distinctive times/ages for all affected members in my family. The decline in kidney function usually begins in the 40's or the 60's. This disease has presented decades of confusion, worry and trauma for my family. However, hope is on the horizon...leading us on a path to find answers as to the cause and more importantly how to manage this disease as there is no cure, only transplantation or dialysis.
My story began in 1964 when my paternal aunt was first diagnosed with kidney disease. She was one of a handful of patients to be placed on kidney dialysis in the US, as her doctor (Dr. Kolff) invented the first artificial kidney machine. She died in 1967 at 41 years of age. My father was the second family member to be diagnosed. He chose not to have any treatment as he did not want to go through the same experiences that his sister just endured. He died in 1968 at 46 years of age. Up to this point we were informed the two cases were just a coincidence. The third member to become affected was my paternal grandmother. She was placed on dialysis briefly, but was too sick at the time. She died in 1975 at 65 years of age. At this point we all knew there was something hereditary going on in the family, but no one could give us any answers. The next 10 years or so were uneventful as no one else in the family presented any known issues specific to kidney decline.
My first cousin (my aunt's oldest daughter) began showing signs that her kidney function was declining when she was close to 40 years of age. She was fortunate that she did not have to go on dialysis. She received a kidney transplant (cadaver) in 1996. To this day, she still has the original transplanted kidney and is doing well. I am very grateful to have my cousin in my life as she provides tremendous support for me.
Around the same time period, my oldest sister began showing signs her kidney function was starting to decline. She also was in her early 40's in 1988. She opted to go on peritoneal dialysis at home for treatment, which she participated in for approximately five years. She was admitted into the hospital and received a transplant (live donor on my mother's side), however, she was too ill at the time and her body rejected it. After 6 months and several surgeries later, with no hope of recovering, she was taken off life support. She died in 1998 at 51 years of age. At this time my family's kidney disease was named "Medullary Cystic Disease", which was deceiving as there are no cysts present in the kidneys with Muc-1.
Fast forwarding to 20 years later (2017), my cousin's son was informed by a friend in the medical field at Stanford University who was familiar with Dr. Bleyer's research at Wake Forest and our family's history with kidney disease, that Dr. Bleyer could conduct genetic testing. As a result, all four of my cousin's children were tested and all were negative. In 2019, I was also tested and found out I was positive with the gene. My two daughters followed me with the testing. My oldest daughter is negative, however my youngest daughter tested positive but is not showing any decline in function thus far. My oldest sister's three children were all tested and all three tested positive. Each one of them is experiencing decline at this time (all in their mid to late 30's).
We have learned this genetic disease is very rare and different from most other kidney disease, eg: not accompanied by diabetes, high blood pressure, or swelling. It occurs in every generation and usually affects 50% of the offspring, although there are some exceptions as noted previously. I have been informed this disease has a good outcome with kidney transplant, especially when there is a live donor. However, in my family this is more difficult to achieve as most family members have this gene. My one living sister was tested to be a potential match for me, however she only has one good kidney and is therefore not a viable candidate. We also continue to have concern over the 5th generation as there are two children, my grandson and my grandniece, both approaching 5 years of age. Children are not usually tested until they are at least 18 years old. I am currently on the transplant list at Cleveland Clinic in South Florida (starting my 5th year in October). I spent 30 years of my life working in the Social Service field helping others. I sincerely hope there is a good Samaritan out there who would consider being a live donor for me.
Carla (Charley) White - pictured above
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.
I would also like to extend my appreciation to the volunteers at The Rare Kidney Disease Foundation for their dedication and hard work. The Foundation has finally given me an opportunity to connect with others who are also walking in my shoes. I feel blessed to finally have found support I can relate to and be able to share my story.