Rare Disease and Rare Treatment
My rare disease journey began on May 1st, 2014, when I was diagnosed with Immune Thrombocytopenia, or ITP. My disorder is autoimmune in nature, it causes my immune system to attack and destroy platelets. The average human has 150,000 to 400,000 platelets. When my doctor ran a blood test, I came back with just 7,000. I was hospitalized for six days while doctors ran multiple tests and stuck me countless times, searching for answers. I ended up seeing three hematologists in less than two weeks. None of them really made me feel confident in my diagnosis; the unknown intimidated me. My first lesson in how important it is to discuss the challenges in living with a rare disease came from my mom. She was chatting with a friend in Los Angeles about what was going on with me, and how she had found a doctor at the University of Miami who specialized in platelet disorders. Unfortunately, he was so busy I wouldn’t be able to see him until the end of the month. With my platelet count dangerously low, we were hoping I could get in sooner. As luck would have it, my mom’s friend had a cousin who worked with my doctor. He was able to get me in the following week.
I was nervous and excited to meet the hematology team that was going to tackle my medical mystery. I wanted answers and reassurance that I could survive with ITP. My visit was overwhelming. Looking back, it was the first step in rebuilding my life as a rare disease patient. I had dozens of tests over the course of a few months; my doctors were able to confirm my diagnosis of ITP. I spent seven months on prednisone trying to stabilize my platelets and was doing okay for a while. Then, around Halloween, a blood test showed I had dropped to 14,000 platelets. This opened up a completely different conversation, chemotherapy. My doctors explained that while it is off label for ITP, some patients experienced long periods of normal platelets after being treated with Rituxan. At first I was totally against the idea, but facing the reality that I could die I decided to do some research.
I reached out to fellow ITP patients online to get their feedback on the process. I heard a variety of stories ranging from people who have gone years with normal platelets to people who never had any luck. I read as many research studies as I could find. Ultimately, I decided to go through with the infusions. After four weeks, I saw my doctors and they declared it a success. Many times, the story stops there. You restore your health to a certain point and move on with your life. I was declared in remission on December 18th, 2014.
I started blogging when I began my Rituxan treatments. I didn’t plan on having a large audience; I just wanted an outlet to express my thoughts. I didn’t feel comfortable confiding in people close to me because they were worried and didn’t understand. Even my parents at times would freak out over the whole process, pushing me into a deeper depression. I found release in connections I made online through my blog, Facebook, Twitter and Instagram. These people would become friends, practically family. I found a group of people who understood my disease and me. Even though we live all over the world, the Internet united us.
My blog led me to Rare Disease Week in Washington, DC where I ended up meeting with members of Congress and influencing policy on the 21st Century Cures bill. I connected with more rare disease patients and advocates like myself. The opportunities started to grow and I began to build a network of people who were likeminded. They understood what it was like living “rare.” One thing in particular that was comforting for me was meeting people who knew what it was like to live as a healthy person for many years. I was 27 when I became sick, I enjoyed almost three decades of great health. To lose that along with my job, my friends and my independence was awful. I didn’t want to hear people say they were sorry; I wanted to talk to people who had been through it too.
Interacting with other people in the rare and chronic illness space highlighted a need for further advocacy and action. I am a few days out from starting law school. Thanks to Rituxan, I was given a second chance. I plan on using a law degree to make a strong impact in law and biotech, particularly with orphan drugs. The risk I’m taking by pursing a degree in a high stress environment isn’t for everyone, but I remain confident that I will find a way to manage my education and disorders. I’m taking it one step at a time, with or without my platelets.