Carson Hughes Story
“Though this diagnosis was devastating, our family remains hopeful. With promising stem cell and gene therapy trials underway, there is real optimism for a cure in the future.”
Carson was born a healthy, happy, full-term baby boy in May 2024. Throughout his first year, he grew steadily around the 50th percentile and met all of his developmental milestones. Just before his first birthday, things quickly began to change. In less than two months, Carson dropped from the 50th percentile to the fourth percentile while exhibiting excessive thirst and vomiting.
At thirteen months old, Carson was hospitalized for two weeks and diagnosed with failure to thrive. After extensive testing and three procedures under anesthesia, doctors discovered he had Fanconi Syndrome. Despite their best efforts, the underlying cause of Fanconi Syndrome remained unknown. The following months were filled with uncertainty, countless specialist visits, and endless advocating for answers. Nearly three months after our initial hospital visit, we received the diagnosis that changed our lives: Cystinosis.
Cystinosis is a rare genetic disorder that affects every cell in the body, impacting only about 2,500 people worldwide. This disease slowly impacts all major organs including the kidneys, eyes, thyroid, muscles, liver, pancreas, and brain. Carson needs around-the-clock medications and supplements to maintain his electrolyte balance and manage his cystine levels with this diagnosis. These changes have brought immense challenges and adjustments for our family, but we’re beginning to see glimpses of our happy, playful Carson again as his treatments start to help.
Though this diagnosis was devastating, our family remains hopeful. With promising stem cell and gene therapy trials underway, there is real optimism for a cure in the future. Through this journey we’ve learned to focus on what truly matters, which is cherishing each day and finding joy in the little moments.
Our family is dedicated to raising awareness for Cystinosis and supporting the Cystinosis Research Foundation in the fight for a cure. Thank you for supporting our family and helping bring hope to everyone affected by this rare and challenging disease.
The Hughes Family
Daniel, Emily, Adalyn, and Carson