Mom's Son Diagnosed with Rare Genetic Disorder

A mother's journey from pregnancy joy to a devastating diagnosis highlights the challenges of rare diseases. Jessica Clifton-Enge's son, James, born in December 2025, initially required NICU care for dangerously low glucose levels due to hyperinsulinism.

By April 2026, doctors noted James's poor growth, leading to hospital admissions and tests. Genetic testing revealed he has cystinosis, a rare disorder impacting about 1 in 200,000 children, causing cystine buildup and organ damage, particularly to the kidneys.

Cystinosis symptoms can manifest in infancy, including poor growth and excessive thirst. The family was unaware of their carrier status as the condition isn't part of standard genetic screening.

James receives supplements for lost nutrients like phosphorus and potassium, along with Vitamin D. He also takes Cystagon to dissolve cystine crystals, a medication that prolongs life but is not a cure.

This diagnosis has placed a significant strain on the family financially and emotionally. Clifton-Enge remains determined to focus on forward progress and positivity.

While current life expectancy with treatment is into adulthood, research into stem cell gene therapy and transplantation offers hope for a potential cure. Clifton-Enge is exploring trial options for James before his organs are severely affected.

She is dedicated to raising awareness for cystinosis and expressed gratitude to pediatrician Dr. Dawn Manfroy for her persistent advocacy in James's diagnosis.