Infant Diagnosed With Rare Cystinosis After Growth and Kidney Problems

James was diagnosed with cystinosis after doctors identified improper kidney function during testing at Cincinnati Children's Hospital, Newsweek reported. The condition causes a buildup of cystine crystals that damage organs, particularly the kidneys and eyes. James was born in December 2025.

Shortly after birth he was rushed to the NICU for severely low glucose levels and remained there for 23 days. He was initially diagnosed with hyperinsulinism, a condition in which the pancreas releases excess insulin. By April 2026 physicians observed that James was not growing at the expected rate.

He was admitted to Cincinnati Children's Hospital and underwent further testing over several weeks. Genetic testing followed the discovery of kidney issues. Jessica Clifton-Enge, James's mother, said she and her husband had undergone genetic testing before having children and did not expect additional findings.

"The results were devastating," she said. Cystinosis is not included in basic genetic testing, she noted. James now takes supplements for lost phosphorus and potassium, a Vitamin D supplement for bone and muscle weakness, and Cystagon to dissolve cystine crystals.

Before the medication's FDA approval, life expectancy for patients was about 9 to 11 years, Clifton-Enge said. Cystagon has allowed some patients to delay organ failure and live into adulthood. Pediatrician Dr.

Dawn Manfroy of TriHealth Group Health Pediatrics of Anderson pushed for James's hospital admission and diagnosis, Clifton-Enge said. A stem cell gene therapy and transplantation treatment for cystinosis remains in trial stages.