Today is Rare Disease Day. We're taking this opportunity to shed light on some rare kidney diseases. This is Joy Stovall's story of her experience living with Alport Syndrome:
My journey with kidney disease began when I was in 8th grade. I was diagnosed with a rare kidney disease called Alport syndrome. Alport syndrome is an inherited disease that affects the kidneys, inner ear (cochlea) and eye caused by genetic mutations that affect the type IV collagen family of proteins. Type IV collagen is used to construct tissue known as the basement membranes; the abnormal basement membranes in Alport syndrome patients are responsible for the clinical features of Alport syndrome (changes in the kidney, cochlea and eye). My Alport syndrome caused my decline in hearing, eye issues and loss of renal function. I wear hearing aids, have eye issues, and have been through ESRD, dialysis and transplant. At the young age of 23 I went to the ER because I felt more tired and thirsty, but I wasn’t peeing a lot. I had just had my labs done in January and it was now June. The doctor came back and told me “Joy, you need dialysis.”
For the next seven years I was hooked up to a machine 3 days a week for four hours. It was hard for me to balance a renal diet being so tired. Dialysis is the process of removing toxins and fluid. Because my kidneys didn’t function, I was eligible to see if I could get a transplant. After a year, I finally got listed at Northwestern Memorial Hospital in Chicago. We were excited! My mom and brother tried to get tested as possible living donors but were not able to be my donor. I met some of the most amazing people through dialysis including my doctors, techs, nurses, and the other patients. The National Kidney Foundation helped me so much through the dialysis years by putting me in touch with different resources. I’m not sure if they know how special they are and what a major impact they made on my life.
On July 9th, 2013 while eating lunch, I got a call “Joy, we have a kidney for you.” I couldn’t believe it! I was so excited I forgot all about lunch. I quickly called my mom, my stepdad, and my dad. They told me my kidney had a few more tests to go through but to be ready. At 4:30 am on July 10th they told me to head to Northwestern. My mom and I were dropped off by my step dad. We went and checked in. The doctors came in and marked on me with a sharpie and explained everything. My surgeon, Dr. Joseph Leventhal, was amazing! He answered all my questions. When I woke up from my transplant, I was amazingly lucky. It was already functioning, and I had no problems. I went to my parents’ house to recover.
My parents encourage me so much I am ever so grateful. When I got medically cleared, I was eager to go back to work. Being on dialysis and not working was hard. One of the greatest things my stepdad and I can do every year now that I have a transplant is go to a Blackhawks and Maple Leaf’s hockey game together. I was also able to see my niece and nephew being born. I love that I can attend family events and not be concerned about the timing with dialysis or the possibility that I might no longer be here. Having my family support was huge help for me from being in the hospital to making sure I am safe.
Kidney health is so important because living on dialysis is not a quality life. Being hooked up to a machine and following the bland renal diet wears you down. Having the kidney foundation around helps people learn more about kidney awareness and provides resources to patients. They help people who might not be able to afford testing learn if they are at risk.
Kidney disease doesn’t discriminate based on age, sex, religion, color or anything. It can happen to anyone at any time. Taking care of the body you have now is important. Dialysis and transplants aren’t a cure, they are band aides. This is one of the many reasons why eating right, getting daily exercise, and talking to your doctor are so important to your lifelong health.