Annie’s Story

At age 12, I was diagnosed with a rare, incurable disease called neuromyelitis optica (NMO). Before this, I was like any other 12 year old girl. I was very active and loved doing things with my brother and sister. I was on the cheerleading team at school and was healthy and happy. When I first got sick, I felt like I had the stomach flu. I was dehydrated and also had a strange burning/itching sensation on my chest and arms and I lost a lot of weight. I also couldn’t feel anything across my stomach and lower back. After throwing up for five days, my parents took me to St. Louis Children’s Hospital for my first visit. The doctors were concerned about the symptoms and asked me A LOT of questions, and nothing really made sense. I was admitted for dehydration and sent home with what the doctors thought was mono.

When I got home, I kept getting worse. My family was really scared because I couldn’t eat or drink without throwing up and I kept losing weight. I was really weak and my family practically had to carry me everywhere. Strangely, I got the hiccups and they would last for over an hour, then I started blacking out. One time, after I stood up and blacked out, I couldn’t see anything and my parents took me back to the hospital.

I was admitted again to the hospital on Valentine’s Day. It was weird because I just kept shaking and sweating. I felt bad for sweating so much because the nurses had to keep changing my sheets! That day a doctor came in and told us that I did not have mono, and that they were going to be doing some testing to look for a disease called NMO. The next day I had so many tests — an EEG, CAT scan, spinal tap and MRI. I was in the MRI machine for a very, very long time. Later that day I met with a team of neurologists, including Dr. Mar, for the first time. She showed my parents and me the pictures of my spinal cord and pointed out all of the white on my spinal cord which meant it was inflamed. I also had a lesion on my optic nerve. That night, I went to the operating room to have a pheresis catheter placed. I started plasmapheresis and was in the ICU for the next two days.

In total, I was in the hospital for about a month. I received a strong dose of steroids and the plasmapheresis. I was slowly getting back to normal, but I still couldn’t walk. In the hospital I had to do physical and occupational therapy to work on gaining back some of my muscle. After a few weeks, the results from my spinal tap came back and confirmed I had NMO. When Dr. Mar first explained all of this I was so confused and still didn’t really understand fully want NMO was. I wanted to learn more about NMO, but at the same time, I was also afraid about what I would learn. In my research, I learned it was a disease where cells that are supposed to fight antigens in my body were instead attacking the healthy cells in my spinal cord and optic nerves. I thought, “Ok, so how do I get rid of it?” Unfortunately I learned there is not a cure yet, but there are options for treatment.

Dr. Mar went over the various treatments with us that could be used to help keep me from having future attacks and symptoms. I decided to go with rituximab infusions which kill my B-cells, since they are the ones that are out of whack. Two days after my first infusion, I got to go home! I was so happy to see my family and play with my dogs. Currently I am doing very well with the treatments and haven’t had an attack in three years. I’m playing soccer but focusing on my schoolwork because I want to become a neurologist one day. I want to help people going through the things that I have gone through and want to help find cures for NMO and other neurological disorders.

I am so grateful for my family, friends, nurses, and doctors who got me through such a hard time in my life. I’m also very grateful for the Guthy-Jackson Foundation. This foundation has worked very hard to find treatments that work for NMO. One day they will find a cure for NMO and I hope to be a part of that process.