I am 36 years old and a family law attorney living in Orange County, California. My story is probably unique in the Gaucher community. I grew up relatively symptom free. I am not the most coordinated person, but was able to do fairly well in cross-country and track in high school. I even had the opportunity to run at the collegiate level. I had pain in my legs in high school, but my coach (and doctors) wrote it off as growing pains and shin splints.
In college, I certainly had aches and pains, but tended to ignore my body. I was focused on school, work and having fun and didn’t really have time to take care of myself. Although fatigue was certainly an issue for me, I constantly pushed my body to meet my scheduling demands. Sub-consciously, I think I always knew that I did not have the energy of my peers, which made me want to take on every challenge and every obstacle just to prove myself. I graduated college in 2002 with a major in Psychology, minor in classical history (and almost a second major in latin). I typically worked two jobs (starbucks and something in the financial sector) and, upon graduating, focused completely on the financing sector working for UBS.
The summer after college, I helped a friend move into an apartment on the Balboa Peninsula in Newport Beach. He asked me to help carry his bed up a flight of stairs and I happily obliged. At the top, I could feel something pop in my neck. It hurt and felt like a terrible sprain. Of course, still with the college mentality, I ignored it. I went to work the next day and could tell my neck was swollen because my collar on my shirt was tight. I still ignored it. About a week went by and my neck was getting progressively worse. I could no longer button the top button of my shirt and had to wear my tie loose (very uncharacteristic of me). My lips and face were also starting to take on a blue hue. I was exhausted, but still pushed on and went into work. Finally, at the office, my supervisor told me to go to the doctor. He literally called the doctor and set up the appointment for me to go. Apparently, I am pretty obstinate. The doctor was a part of a HMO and, frankly unimpressive. He sent me to get an MRI to see how badly my next was sprained. I did. Leaving the MRI center, the technician gave me a very strange look. I’ll never forget it. His expression was one of angst, like he wanted to tell me something really bad, but couldn’t. I drove home. By the time I got home, there were six messages on my machine. All from the doctor. He didn’t tell me what was wrong, but asked me to immediately come back to the office. I did and he broke the news to me that I had tumors all over my neck and chest. That “sprain” was really one tumor that moved and was now blocking my superior vena cava. I essentially could not drain blood from my head. I needed surgery immediately.
Damned if I was going to let that guy touch me again. So I immediately got in my car (I really should not have been driving) and drove up to the valley in LA to see my dad and schedule a meeting with my mom’s oncologist (she had passed away just two years before from metastatic breast cancer). The following weeks were a blur. I had two surgeries to remove the tumors and most of the lymph nodes in my upper body. The doctors knew that it was lymphoma, but could not tell what kind. My doctor, remembering something from medical school, called a geneticist. His hunch was right. I not only had Stage IV Non-Hodgkins Lymphoma, but also Gaucher’s Disease Type 1.
I was floored that this was happening to me. There was so much to learn about both and a complete change in my life. The doctors told me to focus on the cancer treatment and deal with the Gaucher’s later (even though both my spleen and liver were enormous and I had infractions in my legs and hips). I did. I stayed positive and fought. I went on a year of treatment with chemo and radiation. It was aggressive. I lost my hair (including my eyebrows, which is my defining feature) and a ton of weight. I was in and out of the hospital for months. Luckily, I prevailed. By September 2003, I was told I was in remission. It was an incredible feeling and I was ready to take on the world again.
I started law school in the fall of 2004. I went to law school at night and worked full-time during the day as a clerk for an estate planning firm. I was back to pushing myself and not taking no for an answer. After going through the cancer treatment, I felt I had a new, stronger outlook on life and I could accomplish anything. The fatigue and pain started again in the beginning of my second year. I was exhausted and felt like every joint in my body was starting to hurt. I met with the doctors again. Some said some ridiculous things to me, like I won’t live until I am 30 and Gaucher’s disease will make my bones crumble. I finally found a doctor who knew what he was talking about. He put me on Cereyzme and I started getting infusions every two weeks.
At first, it was tough. The infusion center was with other patients getting cancer treatments. I felt like I was right back where I started with the lymphoma, except this time it would be for the rest of my life. Things change though and my optimism was still there. Eventually, it became routine. I started feeling better. The pain went away and I could manage my energy. I finished law school, got married, moved to Orange County and eventually started my family. I now have a son now who is 4 ½ and everything to me.
There is one more turn to my story. I started Cerdelga in February 2015. The pill again changed my life. It gave me more energy and I no longer had to deal with the infusions. No more searching for veins, no more pricks and no more energy fluctuations right before the infusion. A friend urged me to start working out and, specifically start something called Crossfit. At first, I was terribly out of shape and, frankly, embarrassingly weak. I kept at it though (almost every day at 5am). At my yearly check-up, my doctor was astonished with my progress. My bone density was the “densest” it had ever been. My blood results were great. My weight was great (the heaviest I have ever been). Most importantly, I feel great. It had truly changed my life for the better.
If anyone ever wants to talk with me about my story or what they went through, I am always happy to do so. I think the Gaucher community is strong and is a great resource for people also going through the same thing. Doctors can say crazy things and it is always best to confide in friends, family and others who are dealt the same lot in life.
-Marc Garelick; Orange County, CA