Personal Stories From People With Cystinuria2023-09-22T11:05:41-07:00

Personal Stories From People with Cystinuria

Ever had a kidney stone,
or know someone who has?

If so, you may understand the excruciating pain associated with them. Men and women alike, often describe the experience as the worst and most intense pain of their life. Imagine having multiple kidney stones per week or month. This is the life of a Cystinuric.

Cystinuria is a rare, debilitating genetic disorder characterized by frequent and recurrent kidney stone formation. Those who suffer from Cystinuria can experience kidney stones as frequently as daily. Because there is no cure, a Cystinuric can expect a lifetime of producing kidney stones and dealing with the associated pain and expense.

People suffering from Cystinuria can have frequent hospital visits and surgeries to remove kidney stones or manage the pain related to kidney stones. There are very few options when it comes to therapeutic drugs to manage Cystinuria. Between the cost of surgery, and the drugs to control the disease, life as a Cystinuric can be extremely expensive. Fortunately, the Affordable Care Act protects those with cystinuria and other preexisting conditions from discrimination by health insurance companies.

Cystine stones form very quickly, sometimes overnight, unlike other calcium oxalate stones which can take years to form. The larger stones may require surgical interventions, but surgery is usually the last resort because of the sheer quantity of stones a Cystinuric produces each year.

In the US, Cystinuria affects approximately 1 in 10,000 people, so it’s not unusual for Cystinurics to have to explain their condition to medical staff. Cystinuria does not discriminate, and affects people of all genders, races, ethnicities, and ages.

Cystinuria is a genetic defect the impairs intestinal absorption and renal reabsorption of cystine. Cystine is then excreted at high levels through the kidneys and is insoluble (meaning not able to dissolve). In this environment the cystine crystalizes, forming stones and potentially causing damage to the kidneys.

Through Cystinuria Awareness Day, we hope to bring more awareness, research, and awareness to this debilitating disease.

SHARE YOUR STORY

If you would like to share your personal Story CLICK HERE

Helen’s Story

Helen's Story Helen Guerra, a 20-year-old resident of Miami, has lived more than half of her young life diagnosed with a rare kidney disease called cystinuria. She led a fulfilling childhood filled with a love for reading, dancing, [...]

Sierra Gibbs

Sierra Gibbs Sierra Gibbs is a sophomore at California State University, Long Beach. Her life may seem like everybody else’s around her, but her story is not.  At 13, while growing up in Colfax, CA, she was diagnosed with [...]

Michael’s Story

A Patient's Story: Michael Eckstut (New Jersey) Skillman resident Michael Eckstut, 69, enjoys a full and rewarding life in his roles as a husband, a father to three grown children, and a successful executive at a pharmaceutical services company. [...]

Leah’s Story

Leah's Story - Life with Cystinuria Leah, a 42-year-old resident of Montgomery, Michigan, has struggled with kidney problems from the incredibly young age of 2. Her journey of uncovering the truth behind these medical issues would take 40 years [...]

Go to Top