Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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I have a good friend who has a 15 year-old son. The boy suffers from microvillus inclusion disease. They live in Russia. Local doctors have told her that there is no treatment for that rare disease, but we suppose that Western medicine is more developed and there is a solution. How might this condition be treated? See answer