An intro to cystinosis
Learn the basic facts about the disease and how to manage it.
Cystinosis is a rare disease that affects about 500 to 600 children and adults in the United States. Cystinosis is a genetic disorder, which means a person is born with it. It occurs when both parents pass down a specific gene that doesn’t work right. In people with cystinosis an amino acid called cystine gets trapped inside the cells, builds up, and forms crystals. People with cystinosis cannot feel the rise in cystine levels. But over time, the buildup of crystals causes damage to every cell and organ in the body. Signs of damage usually start in the kidneys and eyes. Damage cannot be undone but it can be slowed down. Keeping cystine levels low is the main way to slow this damage. Current treatments for cystinosis are called cystine-depleting therapies, or CDTs. CDTs help keep cystine levels low by removing cystine. If a dose is delayed or missed, cystine levels can rise very quickly, which may lead to damage in the future. So it’s important to take the dose your doctor recommends on time, every time. Work with your healthcare team and your doctor to schedule routine cystine level tests. Cystine level tests measure the amount of cystine in your cells. They also help your doctor make sure you’re getting the right amount of cystine-depleting therapy. Careful planning with your healthcare team and routine tests can help with the management of your cystinosis.