Hello, I am Anna. I am a 31 year old art therapist and a mother of 3 year old Eloise (appropriately named as she has quite the “spirited personality!”)
I had Eloise 2 weeks early because of high creatinine levels, leading to the discovery that I inherited my family’s genetic Kidney Disease.This unknown and mysterious kidney disease has been part of the fabric of our family for about 4-5 generations. My own father found out he was afflicted by it when I was 3 years old and fortunately received a kidney transplant not too long after.
Until recently, it was anyone’s guess which family members would be afflicted with the disease as we had very little information about it. We didn’t even know its precise name. It didn’t look exactly like other kidney diseases and biopsies were often inconclusive. In a strange and serendipitous way, after my father died about a year and a half ago, my cousin and I (both having symptoms of the disease) were independently researching kidney diseases trying to find more information on what ours might be. We both separately stumbled upon genetic research that was being conducted by Dr. Anthony J. Bleyer at Wake Forest University in North Carolina on rare types of kidney disease. After getting into contact with them, our family started genetic testing. We discovered our family is one of only 200 in the world with a rare form of kidney disease called Autosomal Dominant Tubulo-Interstitial Kidney Disease. It is caused by a mutation in the MUC-1 gene. It has affected about 50% of the paternal side of my family and my daughter has a 50% chance of developing it as well.
I am lucky. I am young, otherwise healthy, and have a fulfilling career, supportive friends and family, and young daughter who does a great job of distracting me from the disappointment, anger, and frustration I have felt since being diagnosed. My kidney functioning has been steadily decreasing in the last year amidst devastating life stressors including my father’s death.
I pray that I receive a healthy kidney soon so that I can get back to my normal, active, happy self and teach my daughter that with enough persistence and hope, she can also get through anything life throws her!