My Family’s Experience with Genetic Kidney Disease

Omkar Panchal (in maroon shirt) and Family

By: Omkar Panchal

My experience with genetic kidney disease began with seeing my mother regularly in pain from dialysis and all of the complications associated with it. My mother consulted one of the best kidney surgeons in India but unfortunately, he was not able to determine why my mother had renal (kidney) failure in the first place. My mother received a kidney transplant in 2013. Her life has been less painful since then, although not completely normal.  

When I enrolled in the PhD program at the University of Leipzig (Germany), I underwent a thorough medical examination. This examination revealed that my kidneys were slightly smaller than the usual size and my serum creatinine (measure of kidney function) values were slightly towards the upper limit of normal. The doctors at the university struggled for more than a year to find the cause. Finally, an experienced doctor asked to get a few genes sequenced, one of those genes being MUC1. The sequencing results revealed I had a mutation in the MUC1 gene. I was fortunate that it was during this decade that two scientific articles were published linking the mutation in the MUC1 gene with progressive renal failure in adults. I was shocked to learn this bitter truth. I reduced my exercise workout, started taking medication for maintaining my blood pressure within the normal range and began drinking more water, all in an effort to prolong the deterioration of my kidney function.  

A couple of years later, my brother and my parents visited us in Germany and thankfully the doctors at the University Hospital of Leipzig  agreed to sequence the genes of my brother and mother. It was established that my mother has the same MUC1 mutation, which explained her renal failure. Worse, my brother was found to have the same mutation and will in the near future succumb to this cruel disease. 

However, this is not the worst part.  I shared this information about the genetic mutation with my expectant wife to find out if she wanted to perform genetic testing.  She insisted that we wait to perform the testing until after our child was born.  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.  

Just imagining and picturing four members of my family in a dialysis room, waiting to receive a healthy kidney for transplant is nerve-wracking.  

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.  After the compound has been proven safe and helpful, my daughter receiving the medication in the future will be a blessing from the almighty.