A Powerful Start: First CTX Awareness Day a Huge Success!

Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder caused by a deficiency in the enzyme sterol 27-hydroxylase. This enzyme is essential for converting cholesterol into bile acids, which help the body absorb fats and vitamins. Without it, harmful substances build up in the body and lead to serious health challenges such as cataracts, chronic diarrhea, xanthomas, learning difficulties, movement disorders, and progressive neurological decline.

Why Awareness Matters 

One of the greatest challenges in CTX is diagnosis. On average, people wait over 16 years before receiving the correct diagnosis—often after years of unexplained health struggles. While CTX is progressive, there is good news: an FDA-approved treatment exists. Early diagnosis and treatment can change lives.

Your Impact

Thanks to the various state proclamations and social media posts across the globe, our community was able to shine a spotlight on CTX and share its story more widely than ever before. Visits to our site more than doubled compared to the daily average, showing just how powerful awareness can be. A heartfelt thank you to everyone who participated. We’re excited to continue this awareness campaign next year—so mark your calendars again for September 17, 2026! If you have ideas or want to get involved in planning next year’s activities, please email us. We’d love your input!