- Posted February 19, 2014 by
Creedmoor, North Carolina
This iReport is part of an assignment:
Living with a rare disease?
Cystinuria - Yes, that means I have kidney stones!
When I was 16, I began to have severe flank pain and the doctors were very unsure what was wrong with me. They thought I had an urinary tract infection, then a bladder infection, kidney infection….no one was sure what was wrong with me. It wasn’t until I had a pain attack while I was an exchange student in Germany, my senior year in high school, that they finally realized what had been plaguing me for the past year. They finally diagnosed with Cystinuria.
What is that you ask? It is a rare inherited kidney disease that causes high concentration of an amino acid called cystine to pool in the kidneys. The cystine forms crystals in the kidneys (similar looking to rock candy) and these crystals cause painful kidney stones. Some people with the disease are what I would call lucky, as they have stones, but are able to pass them without major incident. Others have it real bad, with such great pain that they are on medical disability and can barely function without major pain medicine. I am somewhere in the middle. I sometimes have small stones that easily pass, and then I have the huge ones that require "surgical intervention".
There was a time during college and shortly after where I was producing these whopper stones about every 18 months. At that time surgery was the only option and I now can play connect the dots with the scars that are on my back. Lately I have been much luckier with the stones only coming every couple of years. My last big scare was about five years ago, when I wasn't feeling well, was in a lot of pain, and didn't want to even move out of the bed. My husband finally forced me to go to the ER. It was a good thing he had, as it turned out that I had a stone so big that it was blocking my kidney completely and without the emergency surgery I had that night to put a stent in, it could have caused irreparable damage to my kidney or even killed me.
If you were to look at me, you would never know there was anything wrong with me. Other than the scars on my back, there is no physical way to tell that there is anything wrong with me. But lurking underneath, is my dreadful disease. Currently, there isn’t a cure. Drinking ridiculous amounts of fluids is the best treatment option. There is medication that can be taken to reduce the amount of cystine that I produce, but there is no way to “stop” my disease. And that can be very frustrating. It is also very frustrating, because you often have no idea that I am sick.
Why do I tell you all of this? Well, February 28, 2014 is World Rare Diseases Day. The main objective of Rare Disease Day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives. Cystinuria affects people from all walks of life, both young and old. Advocacy for patients and support for those suffering from this is why I created a Facebook page “Cystinuria – Yes that means I have kidney stones!” Please check out: http://www.rarediseaseday.org for more information on Rare Disease Day.