My Experience with MUC1 - by Christine Hernandez
My name is Christine Hernandez, I am a kidney dialysis warrior. In 2016 I found out I had kidney disease. Long story short. I asked my PCP for a referral to see a nephrologist because my brothers both had kidney failure and I thought it might be genetic. Though my brothers never got tested, I wanted to see a nephrologist. After my first consultation, he ran a battery of lab tests to see if I had some sort of kidney disease. My lab results looked normal, but my doctor was not convinced and he recommended that he perform a kidney biopsy if I allowed him. Of course I agreed because I wanted to know what was going on. After my biopsy, my doctor came in with news that would transform my life. He told me that I had kidney disease and that I had lost 60% of my kidney function so far. I was devastated to say the least. He told me that he looked at the slides, and what he saw during the biopsy looked like I had a disease called medullary cystic kidney disease, which is a very rare genetic condition and that there was one doctor that was leading research on this disease. This doctor’s name was Dr. Anthony Bleyer. My nephrologist connected me with Dr. Bleyer and my journey with Dr. Bleyer and the research began. I was diagnosed with Muc1 and so was one of my sons. For me, it is too late as my disease progresses very fast. It is a very aggressive form and I am now on dialysis. My son is currently stable, praise Jesus, and is taking care of himself and eating a healthy diet in an effort to help delay the disease and loss of kidney function.
When I was diagnosed with Muc1, my family was turned upside down, my life was put on pause, and I had to rearrange all of my goals and career ambitions, including furthering my education. I went from having a successful career in nursing to being a very aggressive advocate and ambassador for several organizations that I really believe in. My family life consists of me on dialysis four days a week, three hours each day, and the days that I am on dialysis I also utilize for advocacy. I strive to provide the best possible life for my remaining son at home because I do not want to be the cause of him not having as normal a childhood as I can give him. Now my daughter is getting tested to see if she has the disease, if she does not, she plans to try and apply to be a kidney donor.
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. My family members that do test positive will be participating in research studies because we are committed to contributing to ongoing research efforts.
