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Cystinuria

Cystinuria is a rare inherited genetic condition in which the body forms a unique type of kidney stone. People with cystinuria are affected with varying degrees of severity. Some may have the disease but no symptoms of stone formation while others will become frequent stone formers. These stones are either passed by urination or removed by surgical intervention. Cystinuria can be life-altering for its victims as the presence of stone pain can become temporarily debilitating. There are several complications of the condition that can have severe repercussions including recurrent urinary tract infections (UTIs), Hydronephrosis (enlargement of a kidney), and kidney damage.

According to the NIH, About one in every 10,000 people have cystinuria. Cystine stones are most common in young adults under age 40. Less than 3% of urinary tract stones are cystine stones. There is currently no cure for Cystinuria. The goal of treatment is to relieve symptoms and prevent more stones from forming. A person with severe symptoms may need to go into the hospital.

Treatment involves drinking plenty of fluids (6-8 glasses daily), especially water, to produce large amounts of urine. Medicines may be prescribed to help dissolve the cystine crystals. Eating less salt can also decrease cystine release and stone formation.

To find out more information on Cystinuria, go to:

The Cystinuria Foundation
Article on Cystinuria from the National Library of Medicine

If you or someone you know has Cystinuria or any other RARE disease, go to Global Genes Organization for patient and caregiver resources and information.

Here is a personal story of a person affected by this disease:

Alyssa Miller

By Alyssa Miller

You asked about my Cystinuria story. The thing is, I don’t have a defining moment of when it started, as my family doctor when I was younger didn’t believe me when I would say that I was just extremely tired or that I hurt all the time. I had open heart surgery when I was 4 years old, and so from that time on, all my health care was heavily focused on my heart condition. I believe this played an important factor in my kidneys being overlooked.

For us, when this really started to become a problem, I was 13. It was right before the 4th of July, and I had terrible flank pain with vomiting. All I could do was cry and sleep. My mom took me to our family doctor who wrote it off as “becoming a woman” and did no further testing or looking into it. I spent a week still in pain and not being able to eat. I was taken to the local ER who did confirm the presence of a small stone (only after my mother, who is a nurse, forced them to take x-rays). However, I was just given pain killers and sent on my way. A follow up appointment was never scheduled. Fast forward to 16 year old me. While visiting a friend, I passed a large stone.

The first time I had ever passed anything visible to the eye. I had no pain, just suddenly this large object had fallen out. It was the size and shape of an almond, and it scared me to death. We collected it in a cup and took it to my new family doctor. He immediately sent the stone out for testing and a week later we finally had a diagnosis. Cystinuria. A rare disease that required me seeing specialists. I went through several doctors who would pass me along as they viewed my health history. They had never heard of Cystinuria, had no idea how to treat it. I finally got a referral to University of Michigan, where I was all ready being seen for my heart. I was started on Potassium Citrate and told to follow a low protein diet. I did well during my junior year with no issues, but was then knocked down the first week of my senior year. Once again, a stone was showing on x-rays, but was believed to be passable.

My senior year of high school was a struggle and I barely graduated due to missing so many weeks of school. At 18, I discovered that I was pregnant and that the stone had never passed on its own. At 5 1/2 months pregnant, I finally had my first percutaneous nephrolithotomy. I am now 28 and have had more surgeries than I can count. I struggled to get through college- failing several classes because of my recovery time needed after each surgery. It took me 8 years, but in April of 2015 I finally walked across the stage to receive my bachelor’s degree! It took me 8 years to earn this honor. I have been blessed to find myself in a job that is flexible and understanding to my health needs.

Cystinuria has also opened my eyes to invisible illness, judgments people make with educating themselves, and an amazing support community. It has also made me realize how the American health care system has so many weak points. Because of this, I am now preparing to earn a master’s degree in public health administration. If I can help one person avoid the uncertainty and fear of a new diagnosis, I will feel that I have done my part.

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