What Is Erdheim-Chester Disease (ECD) Part 2:

After the diagnosis I started learning about Erdheim-Chester as much as I could.

No doctor here had ever heard of this disease, I was the first person to be diagnosed in Canada as far as anyone knew. There had been a few cases in the United States and in parts of Europe, however some had been misdiagnosed.

The doctor I was referred to in Saint John, N.B. was wonderful. He listened to what I had researched, and had done a lot of his own. I was put on an injection of a form of chemotherapy called Interferon Alpha 2B, as well as being sent to a transplant hematologist to see if a bone marrow transplant would be an option. After going through some testing, it was determined that because of my heart issues, a transplant was NOT an option.

I was then referred to a palliative care physician, she has been a valuable part of my medical journey ever since. I couldn’t do this without her.

With my first treatment I was very nauseated and extremely tired, I lost weight and had constant flu-like symptoms. It was not pleasant. I stayed on that treatment for the better part of four years until my liver started giving me problems. After a liver biopsy, I went off the medication and my disease had started to spread. We needed another plan of attack.

I found a doctor at MD Anderson Cancer Centre in Houston, Texas and made an appointment with him, he specialized in ECD. He wanted to start from scratch and test my bone biopsy to make sure the diagnosis was correct. I called to get it sent to Houston and to my surprise, it had been sent to France for research purposes without my consent. When it was further looked into, I was told the sample was used and then disposed of.

I was so upset over this, when I had the biopsy it was extremely painful and I was on crutches for six weeks. I didn’t want to have to go through that again. The doctor in Houston happened to know the doctor in France, he miraculously found my bone sample and sent it to Houston. I was hesitant and asked if it was even mine, I was reassured it was.

Another reason it was so important to test my bone sample was because some of the drugs that could be an option were only available to patients that were BRAF mutation positive. This is something you acquire when you get cancer. In Halifax, N.S. where I had the biopsy, I tested negative. Luckily, France has more intricate testing and I tested positive for the BRAF mutation there. This gave me more drug options to try. Everything happens for a reason.

After that, I had taken another drug for a month called Gleevec but my body couldn’t tolerate it. I was neutropenic, meaning I have abnormally low white blood cells which are important in fighting infection.

Next, a drug called Kineret which didn’t help at all. My doctors here were not sure what to do next. I was getting frustrated, but never ran out of hope.

The next step was a trip to New York to Memorial Sloan Kettering Cancer Centre. The doctor there was amazing, he sees mostly ECD patients and was so knowledgeable and friendly. He has many published articles regarding this rare disease. He suggested a drug called Zelboraf. He works well with my doctors here and I feel very confident in their hands. Leaving NYC I felt more positive and hopeful. That being said, sometimes it’s hard to alway stay up beat and wear a smile.

I know that hope is so important and not to lose sight of it. There are so many new drugs that scientists are coming up with everyday. When I was first diagnosed some of these drugs were not even an option yet. Though I have seen the progression in my life, if there’s a pill somewhere under a rock, behind a tree, anywhere on this planet, I will find it.

Always fight until you can’t anymore.