When Jessica Engel noticed her infant son, James, was not growing adequately at four months old, she felt a strong intuition that something was wrong. Despite doctors initially suggesting she simply needed to increase his formula intake, Engel persisted with questioning and demanding further testing. Her advocacy ultimately led to James' diagnosis with cystinosis, a rare genetic disorder.

James was born in December 2025 and immediately admitted to the NICU due to low glucose levels. He was initially diagnosed with hyperinsulinemia, a condition where the body produces excess insulin. Doctors predicted he would outgrow it, and after 23 days in the NICU, he was sent home with medication to manage his glucose.

Despite meeting other developmental milestones, James' pediatrician noted his failure to gain weight during a routine four-month appointment in April. Initial ER evaluations attributed the low weight to his hyperinsulinemia medication. After he was taken off the medication and his glucose levels normalized, Engel believed his health issues were resolved.

However, James continued to not gain weight in the following weeks. When Engel sought further medical attention, she was again told to increase his formula feeding. Unconvinced by this explanation, Engel insisted on more tests.

'The hospital telling me "feed him more" and "give him formula and he will grow" was not a good enough answer for me,' Engel stated. 'I knew there was something more wrong.'

Engel's persistence led to further testing, which revealed that James' kidneys were not functioning properly. This led to the diagnosis of cystinosis. According to My Cleveland Clinic, cystinosis is a genetic condition where the amino acid cystine accumulates in the body's cells, forming crystals that can damage organs and tissues. It most commonly affects the kidneys and eyes but can also impact the brain, muscles, liver, thyroid, and pancreas.

'Cystinosis is a rare but serious disease that has a lifelong impact,' My Cleveland Clinic states. 'Prompt diagnosis and treatment can slow the development and progression of the disease. Even with treatment, most people will develop end-stage kidney disease (kidney failure) and require kidney transplants.'

Engel described the diagnosis as 'devastating,' contrasting the hope of James overcoming hyperinsulinemia with the reality of a lifelong illness. The diagnosis has significantly altered the family's life, requiring a strict daily regimen of medications, supplements, and frequent medical appointments. Engel has experienced significant anxiety and sleep disturbances due to constant worry about her son's future.

Currently, James is managing his condition with daily medication and supplements, and has recently begun to gain weight. Engel anticipates that his condition will progressively affect his organs, making a kidney transplant likely in the future.

While there is no cure for cystinosis, medication can slow the progression of kidney damage. Advancements in medical treatment and transplantation have increased the life expectancy for individuals with cystinosis into adulthood. Engel expressed hope for future cures and a desire for James to potentially participate in clinical trials. She also emphasized the importance of parents advocating for their children and asking persistent questions when seeking medical answers. She stressed that while grief is natural, finding joy amidst challenging circumstances is also possible.