Alexander experienced painful urination and blood in his urine for a year before connecting with experts in CHOP’s Pediatric Kidney Stone Center. They provided answers and a long-term care management plan to free him of stones and free him of pain.

When Alexander was just 2 years old, he began to experience periods of painful urination and blood in his urine. He was misdiagnosed for nearly a year by specialists near his home in New Jersey. 

“It was very scary,” says his mom, Kate. “I kept trying to push for someone to listen, saying this wasn’t normal.”

Kate and her husband, Christopher, finally found answers at the Children’s Hospital of Philadelphia (CHOP) Specialty Care Center at Virtua Health in New Jersey. An ultrasound there revealed a large bladder stone. The family was immediately referred to Attending Pediatric Urologist Gregory E. Tasian, MD, MSc, MSCE, a key member of CHOP’s Pediatric Kidney Stone Center. Dr. Tasian discovered a second large stone in Alexander’s kidney.

Alexander needed immediate surgery to remove the stones and prevent kidney failure. After surgery, analysis of the stones revealed he has a rare genetic condition, called cystinuria, that causes recurrent kidney stones. The team in the Pediatric Kidney Stone Center created a detailed care plan for him to help prevent future stone formation.

Now, nearly two years post-surgery, Alex is free of stones — and free of pain.

Stones: no longer rare in kids

Kidney stones were once thought of as an adult problem. CHOP’s Division of Urology used to treat just a handful of cases each year. But that has changed dramatically: The likelihood of a child developing a kidney stone has doubled in the past 25 years, and CHOP clinicians now see these cases every day. 

To deal with this growing problem, in 2010, CHOP created the Pediatric Kidney Stone Center, a multidisciplinary program within the Divisions of Urology and Nephrology that is solely dedicated to the dietary, medical and surgical management of kidney and bladder stones. It is a world leader and the largest, most comprehensive center of its kind in the country. 

“Being told this is the top tier program in the country gives you a sense of comfort,” says Kate. “Even though we were still incredibly scared for our child, there was comfort in knowing we were in the best hands possible. To have someone listen and actually answer your questions with thought and care also was a relief.”

A holistic approach to prevent stone recurrence

Kidney and bladder stones develop when minerals and other substances become concentrated in the urine, causing them to crystallize. The buildup of the amino acid cystine caused the stones in Alexander’s case.

Children with cystinuria have a high risk of developing kidney stones throughout their life. The first step in treatment may involve surgery to remove the stones. However, to prevent future stones, it is essential to work with a nephrologist to address the underlying causes of mineral buildup and with nutritionists to create a comprehensive dietary plan to prevent stone recurrence.

Alexander takes two prescription medications, follows a very low-sodium diet, and drinks plenty of water daily. This helps prevent future stones. He will need to maintain this regimen for life.

Medications for rare conditions like his are often expensive and not available at local pharmacies without special ordering. When Kate and Christopher faced challenges with their insurance to get the medications Alexander needed, the CHOP team stepped in to help, arranging for them to get the meds through a specialty pharmacy.

Every six months, the family does a 24-hour urine collection. This is a test where they must collect all the urine Alexander produces in an entire day in a special container. The Kidney Stone Clinic team tests the urine to determine if the medication dosages need to be adjusted. 

The best start on a lifelong journey

“He’s the love of my life,” says Kate of her son. “He's a joy to be around. He's very loving and sweet. He’s really funny and likes to make people laugh. I feel lucky that I get to be his mom. He’s just a wonderful little guy. He’s very clever and smart. Just a very bright kid.”

Alexander’s parents are part of the Kidney Stone Engagement Core (KSEC), a group of patients, caregivers, advocates, clinicians and researchers working together to improve understanding, prevention and treatment of kidney stones through patient engagement, education and research. They provide vital insight and input from their perspective as caregivers to improve care so more kids like Alexander can go on to enjoy a happy, bright future.

“We wouldn’t wish this on anyone and it’s obviously not what you want to see your toddler go through, but if it is going to be a lifelong thing, we’re glad we got him started on these preventive changes early,” says Kate. “The hope is that when he gets older, it will be so engrained that he’ll make good choices for himself.”

It comforts her to know that during these critical, early years of his life, Alexander is receiving care from the best team in the country.

“I could sing the praises of the CHOP Kidney Stone Clinic forever,” says Kate. “They're amazing. They saved his life. I hope, through his lifelong journey with this, he always has a team that cares as much, and is at the forefront of research as much, and really wants to do better for folks struggling with kidney stones as much as the team he currently has at CHOP.”