Fictional story. Written for this practice project. It does not describe a real person or real patient data.
For three years we only had questions. A name for the disease gave us a direction.
Our son was always thirsty and tired, and he was not growing like other children. For three years we went from one specialist to another.
When a genetic test finally confirmed cystinosis, we were scared, but also relieved. At last we knew what we were fighting.
Through a parents’ group we learned about specialist centres, school support and how to manage the medication routine as a family.
This is a fictional story written for a practice project. Elena is an invented person.