This informative video describes in simple layman’s terms what cystinosis is, how it affects the body, and how it can be treated. But the main idea I came away with was how important it is for families affected to get support.
Cystinosis is a rare disease where the body cannot breakdown the amino acid, cystine, causing it to accumulate in the body’s organs. Amino acids are the building blocks of protein.
The kidneys are usually the first to be affected, and the disorder is typically diagnosed before the patient is two years old.
Without treatment, patients could pass away from end stage renal kidney failure by age nine. Cystinosis affects males and females in equal numbers, and it’s thought that there are only about 2,000 cases worldwide!
Treatment has to be targeted to the individual because each case is slightly different. Right now, scientists and physicians are working together to develop new medicines and treatment protocols, so there is reason to hope for the future.
If cystinosis is a part of your life, or that of someone you love, and you are interested in learning about participating in a clinical trial, contact the NIH Clinical Center toll-free at (800) 411-1222, or email them at firstname.lastname@example.org.