What is Erdheim-Chester Disease: Part 1

One sunny afternoon in the fall of 2011 I was out for a walk enjoying my day, when all of a sudden I heard a pop. My knee had almost given out and became very painful, it started to swell and tripled in size.

Six weeks later the swelling had not gone down. I went to the see my family doctor and made her aware of my swollen knee and told her I wasn’t feeling well but couldn’t put my finger on it. She sent me right to the hospital for blood work and an X-ray.

Later that day, I received a phone call from the same doctor and she told me that the radiologist said I had lesions on my bones, it was very concerning. She booked me for an appointment for a bone scan the next day.

“Bone scan? What is that?”, I asked. I got to the nuclear medicine department of my local hospital and was given an injection of a radioactive material. I had to wait a couple of hours and drink some water before going back and being scanned in a large machine from head to toe.

When I was given the results of the bone scan, I was told that I may have bone cancer. However, my bones didn’t look exactly the same way in the scan as others did. I was told that I needed a bone biopsy to confirm their suspicions. The biopsy was done rather quickly, but the results took over two months. I had called numerous times to try to get the results, I was so anxious and the waiting was driving me crazy.

As I was sitting in the orthopaedic surgeon’s office waiting for him to deliver the news, I felt terrified. My heart was pounding, I was hot all over, and even though the waiting room was full, I felt all alone. I had been in this position before, being faced with a health issue that could change my life.

The doctor came in the room with a piece of paper in his hand, sat down on a stool, and uttered ”you have Erdheim-Chester disease, when you read this paper you will know as much as I do about it”. That was basically the extent of the conversation, other than to tell me that he was referring me to a hematologist. I had no idea what that even was.

I remember the five hour drive home from the hospital, Googling everything about this disease that I could. It was all very confusing to me, and most of the information online seemed to be contradictory. There were words like cancer, histiocytes, and malignancy. The words that jumped out at me most were, LIFE EXPECTANCY OF 2 YEARS. It was then when I knew that no matter what I learned, tests I had done, or doctors I saw, things were never going to be the same.

I felt like I was experiencing deja vu. I had already been in a similar situation fifteen years before this. How could this be? There had been under 500 cases of Erdheim-Chester disease since 1930. It was unbelievable that I would have two very rare illnesses in my life, but I almost felt better equipped to handle this one.

Here I go again.