An Introduction for Those Newly Diagnosed

If you or a loved one has recently received a diagnosis of Erdheim-Chester Disease (ECD), you may be feeling overwhelmed, confused, or even scared. That’s completely understandable. ECD is an ultra-rare condition, and most people—including many medical professionals—have never heard of it. But you are not alone. There is a community here to support you, and there is hope.

The Erdheim-Chester Disease Global Alliance (ECDGA) exists to provide awareness, support, education, and advocacy for individuals affected by this disease. Since our founding in 2009, we’ve connected with hundreds of patients and families around the world, and we are here for you too.

So, what exactly is Erdheim-Chester Disease?

Erdheim-Chester Disease (ECD) is a rare type of blood cancer and part of a group of disorders known as histiocytoses. It occurs when certain white blood cells, called histiocytes, build up in tissues where they shouldn’t be. Normally, histiocytes help the body fight infection. But in ECD, these cells grow uncontrollably and begin to invade various parts of the body, causing inflammation, scarring, and damage to organs.

What makes ECD especially complex is that it can affect many different parts of the body—including bones, heart, brain, kidneys, skin, and more. Some people may have only a few symptoms, while others may experience more widespread effects.

It’s important to know that ECD is a clonal myeloid neoplasm, meaning it starts from a mutation in certain blood-forming cells. Many patients—more than half—have a specific mutation called BRAF V600E, which plays a key role in driving the disease. Thanks to ongoing research, including efforts supported by ECDGA, understanding of these genetic changes has led to more effective treatments.

You Are Not Alone

When facing a rare disease like ECD, it’s easy to feel isolated. That’s why connection and community are such vital parts of this journey. At the heart of the ECDGA is the belief that no one should have to walk this path alone. Whether you’re newly diagnosed or have been living with ECD for years, there’s a place for you here.

In fact, every year, patients and their loved ones come together in a unique gathering designed just for them. This coming May 26, 2025, ECDGA will host our Annual International Patient & Family Gathering in Barcelona, Spain. This event is more than just a meeting—it’s a chance to connect, learn, and find encouragement from people who truly understand. Whether you’re looking for information, emotional support, or simply a friendly face, this gathering is a place to feel seen and supported.

Learning to Navigate Life with ECD

Being diagnosed with a rare disease often raises more questions than answers. Here are a few key things to keep in mind:

• Every case of ECD is different. Some people have mild symptoms, while others may need complex treatment plans. It’s a highly variable disease.
• Early and accurate diagnosis can make a difference. While the diagnosis can be delayed due to ECD’s rarity, advances in imaging and genetic testing have made identification more reliable.
• Research is ongoing and hopeful. With targeted therapies now available and more being studied, there is real hope for managing symptoms and improving quality of life.
• Support is available. From peer groups to international conferences, the ECDGA provides a network of resources designed with you in mind.

Moving Forward, Together

The path ahead may not be what you imagined, but it doesn’t have to be traveled alone. By connecting with others, asking questions, and staying informed, you’re already taking powerful steps toward navigating this new reality.

And if you can, we hope you’ll consider joining us in Barcelona this May. Whether in person or online, the Patient & Family Gathering is a space to learn from experts, meet others living with ECD, and find renewed strength.

To learn more about the gathering and explore additional resources, visit www.erdheim-chester.org.

Welcome to the ECD community. We’re so glad you found us.

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.