A rare disease is any health condition that affects less than one in 2,000 people. Not all rare diseases are fatal but most do not have a cure, and this causes patients to have to adapt to life with the disease. Every year, Rare Disease Day is celebrated globally on the last day of February to raise awareness and help people with rare diseases to get the care they need. The purpose of Rare Disease Day is to show the world how those with rare diseases are able to adapt and persevere to live normal lives.

In honor of Rare Disease Day last week, I am sharing my story of how I was diagnosed with a rare disease and how it has affected my life.

My name is Emma Casto, and I have an autoinflammatory disease called Systemic Juvenile Idiopathic Arthritis (SJIA). SJIA is a disorder which causes my immune system to attack healthy cells and tissues, causing inflammation all throughout my body. The symptoms I experience with this disorder are muscle aches, hives, fevers, fatigue and inflammation of my organs such as my liver, spleen, lungs and heart. As a teenager, I have had to learn how to manage my disease while also managing everything else that comes along with high school life.

I was first diagnosed when I was just 14 years old. Starting in August of 2021, I started noticing occasional hives and aches. I mentioned it to my mom but never thought anything of it. All of that changed when I began to worsen towards the end of November 2021. I would have a constant rash of hives, and experienced pain in my limbs so bad that I couldn’t move them.

When I started going to doctors, they all thought it was an allergic reaction. I spent the first week of December of 2021 at Ruby Memorial Hospital in Morgantown, WV seeing all kinds of specialists who ultimately decided that I just needed to take some allergy medications and antibiotics and I would be fine. So they sent me home from the hospital and told me to wait for the meds to work.

After a week, I was getting worse and worse. I was confined to the couch, and I could barely get up and walk around. The doctors told us to just keep taking the medications and that they would eventually kick in, but I was not getting any better. It got to the point where I couldn’t stand on my own and I couldn’t sleep through the night without waking up from being in pain. Despite my doctors telling us to just give it more time, my parents were tired of watching me suffer and brought me to the emergency room at Camden Clark Memorial on Dec. 19.

When I got into the emergency room, I had a fever of 104.5 degrees and I could not keep any food down. After running tests, they discovered that I had sepsis, my organs were inflamed and beginning to fail. Whatever was wrong with me was not an allergic reaction, and the medications I was taking were doing nothing. I was sent to Morgantown again where I was diagnosed with SJIA and Macrophage Activation Syndrome, a condition that causes macrophages, a type of white blood cell which fights off infections, to be produced. This can cause damage to your bone marrow, liver and spleen.

After my diagnosis, I was finally able to see the correct doctors and get medications that would help me. I was back to normal and able to come home on Christmas Eve. After such a terrifying experience, it was a comfort to be back home with my siblings and my parents for Christmas the next day.

Ever since, I have had occasional flares that have sent me to the hospital, but I have amazing doctors who are able to help me. Due to these flares, I have had to learn how to manage school while also being sick. Last year, I was at Cincinnati Children’s Hospital for two weeks, and I had to communicate with my teachers so I would know what work I was missing and what I could do while I was there. When I miss days, it is important for me to keep up with my work so that I don’t have too much to do, but sometimes it is also important for me to take a break.

While in the hospital, I tried to make the best of the situation and stay positive. I felt comfortable that my doctors would know how to care for me, so I didn’t worry when I got sick. During my hospital stays, I was thankful to have my parents with me and many of my family members visit me. I have also had a lot of people send me cards. It helps me to stay optimistic when I know that I am in so many peoples’ thoughts and prayers.

Now I am able to share what has happened to me and stay healthy. I have been in medicated remission for a year now, and I stay strong and happy by living life to the fullest and never holding myself back.