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 of incorrect diagnoses, six different urologists, losing her right kidney, and immense pain that made her fear for her life. She has experienced an emotional rollercoaster caused by this unknown disease but eventually was able to breathe a sigh of relief when she was finally given the proper diagnosis.

Cystinuria Awareness Day will be in observance on June 24th; inspiring Leah to come forward with her stories of pain, frustration, and triumph.

For 40 years, Leah has been living with a rare disease called Cystinuria. This causes higher and more frequent chances of kidney stone formations that cause severe pain. It was not until last year that she was provided with the correct diagnosis, which provided her with relief after discovering what the next steps were to receive the proper treatment.

As a mother, Leah’s first concern after her diagnosis was having her three children tested for Cystinuria since it is a genetic condition. Her oldest daughter suffered from kidney infections and UTIs beginning in her childhood. She was the only one out of her siblings to test positive for Cystinuria. Luckily, she was professionally treated and that same pain that she and her mother had faced for many years is now much more manageable. From that moment on, Leah emphasized to others that “No matter the circumstances, make sure your kids are tested.”

The biggest change that Leah faces with her new diagnosis is keeping track of her diet. It is crucial that she tracks her food and liquid intake each day to avoid any pain. She keeps up to date with testing and scans in her treatment process that makes her symptoms easier to manage.

Leah is able to remain positive through the incredible support of her family and her specialists. “I am at peace with the idea that I am able to tell my family exactly what I am going through so that they can begin to understand my diagnosis and struggles.” She now enjoys her time reading and spending time with her loved ones.

Families, friends, and loved ones who know someone living with Cystinuria are encouraged to “keep supporting and learning about the disease.” The journey can be long, painful, and scary, but there are treatments and doctors available who are ready to help. To others who are diagnosed with Cystinuria, Leah reassures patients that “Cystinuria is incredibly painful, but those who are suffering from it are not alone.”

More information about Cystinuria can be found on the following websites:

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