Erdheim-Chester Disease (ECD) Community

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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~



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!



I am new to the group and recently diagnosed with ECD. I am being seen by Dr. Go at Mayo and also near my home to be monitored as I receive treatment. Vemurafenib was recommended and I was blessed enough to be given almost 2 months samples. My insurance has denied this. My local doc plans to appeal. I have reseached and given him numerous up to date articles. I also am a provider of health care. I have Federal blue cross/blue shield. Has anyone else run into this problem? and if so, what are the solutions. I have had several days of this med and already can tell it is working. We don't qualify for any patient assistance programs/co-pay assistance programs.



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Update April 2017


Just wanted to give everyone a quick update on how things are going. Since my last story in 2015, I have switched to Dabrafenib. Let me tell has been working amazingly for me. Vemerafenib was good, but I had some bad arthralgia in my left arm and major sun sensitivity. Not on Dabrafenib. I have been on Dabrafenib since May 2016 on the maximum dose (11 months already). Balance is almost 100% in terms of walking and going up steps etc. There are no side effects to speak of for me. I am able to work full time, drive, exercise (even though I should do that more often), ride bikes, etc. If you are on Vemurafenib and are thinking of switching, you may want to ask your physician to see if it's a good idea. Feel free to ask me anything you are wondering. Hope all is well with you all!


Dear jutty, thanks for the update. It's nice to hear that the therapy is working good for you and there are no side effects! Keep us informed :)

Thanks for the update. I've been meaning to e-mail you and ask those same questions. So no sun sensitivity, no occasional joint pain, or shin cancers to worry about? Is it only available as part of a study, or can a doctor prescribe it? If you're in a study, do you have to be seen monthly? I'm getting tired of not being able to go out in the sun and having moles frozen off my face and head, not to mention sliced off. I'm glad your doing so well. I'm still on the Vemurafenib. Now the important question, does your hair still curl?

Well to be honest Larry, Dabrafenib is not peaches and cream for everybody. I have heard some people having joint problems and other issues associated with this drug. I don't think sun sensitivity is a side effect, but I'm not sure. Vemurafenib was good, but it was truly annoying to be extremely careful every time you leave your house. As far as the hair thing goes, I started thinning even before I went on the drug. I do have a lot less hair on my arms, legs, and chest for sure. I see the dermatologist every 3 months because there are some skin cancers associated with Dabrafenib. I go because it's better to be safe than sorry. I am not on a trial for Dabrafenib and my wife's insurance covers it 100% without no copay. If you have any questions, let me know. Hope you're feeling well.

Erdheim chester and balance

Can balance be restored when one has injuries from Erdheim chester?

Hello, my name is Larry Hobson. In some cases balance can be restored with the right medication and physical therapy depending on what caused your balance issues in the first place. Some in our community have gone from wheelchairs to walking. It doesn't happen overnight. You must continue to push yourself to do things, to keep up your strength. Physical therapy can also help with your balance and strength. Challenge yourself to do thinks that are difficult at first. They'll become easier over time. I have a shrunken cerebellum so I will always have balance issues, but I don't let it stop me. I did years of physical therapy. I am able to walk several miles now and can climb several flights of stairs as I work on the 3rd floor and go up and down the stairs many times a day. There was a time when getting up any stairs was a challenge. You can't let ECD stop you from being the person you've always been. There's medication now that can make your life better. Good luck.


5th Annual International Erdheim-Chester Disease Patient & Family Gathering

October 27, 2017 New York, NY USA
The ECD Patient & Family gathering is the only conference focused on uniting those affected by Erdheim-Chester Disease from around the world to increase their knowledge of ECD, learn how to advocate for themselves in a healthcare system often unaware of their illness, and promote fellowship among patients and caregivers. Visit for more information.

Register at Please email questions to Jessica Corkran at

Go to the Rareconnect announcement here:


The Erdheim-Chester Disease Global Alliance Welcomes Vanderbilt University Medical Center to the ECD Referral Care Center Network

Vanderbilt University Medical Center in Nashville, Tennessee is the most recent addition to the Erdheim-Chester Disease (ECD) Referral Care Center network. Nishitha M. Reddy, M.B.B.S., MsCI and her team of ECD-knowledgeable specialists now can collaborate with a large community of other ECD-knowledgeable doctors and researchers to provide the best care available to ECD patients.

Read more: