When it comes to Erdheim-Chester Disease (ECD), timing matters.

As a rare and complex condition, ECD often begins with subtle symptoms that can be mistaken for more common ailments—joint pain, fatigue, shortness of breath, or hormonal changes. For many, these warning signs persist for months or even years before a diagnosis is finally reached. Unfortunately, during that time, the disease can progress and affect multiple organs, including the heart, kidneys, brain, and bones.

Early diagnosis is not just a milestone—it’s a turning point.

The Cost of Delay

Because ECD is so rare, with only around 1,500 documented cases worldwide since its initial description in 1930, misdiagnosis or delayed recognition is common. In fact, many patients undergo years of testing and treatment for unrelated conditions before ECD is even considered.

A key reason for this diagnostic delay is ECD’s ability to mimic other diseases. Its hallmark signs—such as long bone lesions, “hairy kidneys” on scans, and central nervous system involvement—may not be recognized immediately, even by experienced physicians. In some cases, it’s not until imaging, biopsy, and molecular testing reveal the characteristic histiocyte infiltration and MAPK pathway mutations (like the BRAFV600E mutation) that a clear diagnosis can be made.

But the consequences of this delay are serious. Without early intervention, ECD can lead to irreversible organ damage. Central nervous system involvement, which occurs in up to half of ECD patients, is a particularly strong predictor of outcomes. That’s why awareness and education—both in the medical community and among patients—are so essential.

A Personal Mission

The Erdheim-Chester Disease Global Alliance (ECDGA) was born out of a delayed diagnosis. Our founder, Kathy Brewer, spent nearly two decades searching for answers for her husband Gary. Despite her tireless advocacy, the final diagnosis came only after Gary’s passing. It was Erdheim-Chester Disease.

What began as one family’s search for understanding has grown into a global movement supporting over 600 families across 60 countries. Through community-building, education, and advocacy, we continue to work toward a world where no one has to wait years for answers.

Why Early Diagnosis Changes Everything

When diagnosed early, patients can benefit from coordinated care at one of over 30 ECD Care Centers worldwide. These centers bring together experts who understand the disease and can tailor management strategies to each individual’s needs.

Moreover, genetic testing can now detect mutations that are crucial in guiding treatment decisions. The discovery of MAPK pathway mutations in over 80% of ECD patients has led to new, targeted therapies that have transformed care and brought renewed hope to patients around the world.

The earlier ECD is identified, the sooner patients can access this evolving landscape of care—and the better their long-term outcomes can be.

Coming Together for Awareness

Every story matters. Every voice adds to the chorus calling for recognition, understanding, and support. That’s why we’re inviting patients, families, clinicians, and researchers to join us for the Annual International Patient and Family Gathering on May 26, 2025, in Barcelona, Spain.

Held at the Renaissance Barcelona Fira Hotel, this event will offer time for learning, sharing, and connecting. It’s a place where newly diagnosed patients can meet others who understand what they’re going through. It’s a time for caregivers to ask questions, for researchers to share advancements, and for all of us to find hope in community.

We believe that knowledge is power—and that early diagnosis is a gateway to hope. Whether you’re newly diagnosed or have been living with ECD for years, you are not alone.

Together, we are shining a light on this rare disease so that no patient has to walk the path of uncertainty alone again.

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The Erdheim-Chester Disease Global Alliance (ECDGA) does not provide medical advice, diagnoses, or treatments. All content is for informational purposes only. Please consult with a healthcare provider for medical concerns.