Larry

My name is Larry I am 47, and I have Erdheim-Chester Disease.

Written by larryhobson, published 8 days ago.
Larry

My story is atypical of most people who have ECD. My wife made me get a physical in 2008, because I hadn’t had one in a couple of years. My doctor was very thorough as numbers were not right and he remembered I had enlarged kidneys in my previous physical, so he had me do an ultrasound. They were still enlarged so he sent me to an urologist. The urologist said he thought I had a blocked kidney so he scheduled me for surgery to unblock them. He had his partner do it as he has special training. The night before surgery, I get a call from the doctor, who said, “you don’t have what I thought you had.” He said he wanted to go in and look around and put stents in my kidneys.
At my follow up appointment he handed me a stack of papers and said, “I spent a couple of hours on the internet, putting your symptoms in, and this is what I think you have, but I’m not the one to diagnose you.” I had no symptoms that I was aware of at that time. My immediate reaction was, what the hell is Erdheim Chester Disease? I just thought, we all have something, it’s how we deal with it. The more I read, it seemed life expectancy was three years, so I began to worry about my wife and children. How do I have a positive impact on their lives while I can? I also discovered the ECD Global Alliance which provided me with information on a disease neither myself, nor my doctors had ever heard of.
Fortunately my primary physician had also sent me to a bone specialist because I had had chronic knee pain (I thought from football) since I was 17. I had a bone biopsy done in 2003 because of the stiffness and pain, so we found it and he had it sent to John Hopkins for confirmation. Upon diagnosis I signed up with the ECD Global Alliance and have been active ever since. I’ve never felt sorry for myself, and I’m very open about my health, and what I have to go through. I want to help people understand what we all go through, and to empower those living with something to live life to their full potential with dignity.
Shortly after diagnosis, I began to notice symptoms, slurred speech, poor balance, poor equilibrium, a lack of coordination, frequent urination, achy muscles, increased consumption of liquids, and difficulty walking long distances. Prior to diagnosis, I drank more liquid than most, so I figured that was the cause of the frequent urination. I had the knee pain and occasional stiffness in the joints. I can remember brushing into the walls in my office when I turned corners. I thought it was from knee stiffness, I didn’t know my balance was going. My four year old grandson used to make fun of the way I walked and made me get a cane, which I initially resisted. I’ve had to endure cutting myself when trying to cut meat or dropping everything I pick up. I had to learn how to compensate for the difficulties life brings such as climbing ladders, swinging a hammer, or using a spatula.
I was sent to an oncologist who didn’t know what to do. He tried cladribine for six months as I had a tumor growing in my lower back. That didn’t work, but cleared up my knee pain. It also affected my kidneys which function at about 25%. He was going to try interferon, but that was delayed, because I got shingles. When I went back to start a new treatment, he threw his hands up in the air and said, “I don’t know what to do.” But he did, he asked me if I’d be willing to travel to MD Anderson in Houston. After several trips and a lot of tests, they tried me on Gleevec 400mg. It improved my energy, has kept the disease stable for three years, and allowed me to continue to work as a Social Worker, although my duties have been modified a bit,. and my vacation time is going to Texas every four months from California, but what’s my alternative? I am still able to go on my annual campout (of twenty seven years) with friends I grew up with, I’ve even played in the horseshoe tournament. I’m also able to go to my son and grandchildren’s sporting events. I try to live as “normal” a life as I can. What’s normal anyways?
I feel very fortunate that although very rare, my disease, was diagnosed at the early onset, and very quickly. I’ve had skilled doctors who are willing to learn, and admit what they don’t know. Along the way, I’ve met doctors who want to know, so I feel it is my duty, to my grandchildren, to do all I can to help medical science continue to evolve, so my grandchildren don’t have to go through what we have to. I was the first to go to the National Institute of Health for the ECD study, first to send my records to Italy, and have got involved in every study I can. It may not help me, but I owe it to my grandchildren. If someone cares enough to want to learn something about us, then the least I can do is donate my blood, tissue, or medical records. We all can help each other as we’re all in this together.
Written by larryhobson, published 8 days ago.