Erdheim-Chester Disease (ECD) Community

Meet, discuss & support other patients or families living with Erdheim-Chester Disease (ECD). Contribute to topics, or just share what's on your mind

Brother dx w/ECD, where do we go from here?

Hi everyone, I am here for by brother who is 40 years old and was dx w/ECD in March. He was having problems breathing for over a year before they did a scan and found a mass in his lungs. He was at first dx with lung cancer but after the biopsy they said it was ECD. He has extreme leg pain, severe headaches and his vision is starting to go blurry. We live in the suburbs of Chicago and cannot seem to find any Doctor who knows or understands this disease. His lung specialist said he needs to go to Mayo but his Insurance is refusing the referral. He has not been given any type of treatment because they do not know how to treat him and they have not even given him anything to control the pain. I feel lost. Does anyone have any advise or ideas on what we need to do? The Medical Director of the Insurance company is stating he needs to see the Hematologist that misdiagnosed him to see If the disease is hereditary, I do not understand why that matters at this time he needs medical treatment not genetical testing. Any advice would be greatly appreciated. Thank you~


Hi Anghula,

Welcome to the community and thanks for sharing your brother's story here.

Have you contacted the Erdheim Chester Global Alliance already?

This section of the ECGA website is specifically for newly diagnosed patients:

They might have some answers to your insurance questions.

According to the NIH "this condition is not inherited. It arises from a somatic mutation in histiocytes or their precursor cells during an individual's lifetime.". More information here:

Please, keep us informed on the progress.


Sorry to hear about your brother. Because you are saying his vision is being affected by ECD, I'm pretty sure he should be receiving some sort of treatment. There are lots of different treatment options out there. First off, you need to find a doctor that knows about ECD and what the best treatment option is for him. The ECD will want to do genetic testing for a sample, usually bone, to see if he has a genetic mutation. From there, they will be able to select the best treatment for him. Go to ECD Global Alliance because they have a ton of resources you and your family can use. I'm not sure where you guys live, but I can say my doctor for ECD is incredible. His name is Dr. Eli Diamond. I live in NY and that's where he is located. Keep us posted.

Thank you both so much. We live in Illinois I will look into all the options you both suggested. Thanks again.



Thank you everyone for the great feedback provided. I am sorry to hear about the trouble your brother is facing to find help and relief. There is additional support from the ECD Care Center Network ( to possibly get the referral pushed through.
Jutty is correct about the testing to get the best treatment tailored. A knowledgeable doctor will be able to walk him through this process and help with insurance issues as well. I will contact you with more details and my contact information.


We have an appointment May 10th at Mayo Clinic...It could not come soon enough. We are excited and nervous but need answers and hopefully some relief for his pain. Thank you all. Will keep you posted on outcomes.

I was recently seen and diagnosed at Mayo. Dr. Ronald Go is a nice guy and knowledgeable. Best wishes at your appointment!