Our 13 year old daughter, Annie, was diagnosed with NMO almost a year ago. Her first visit to the hospital was on February 7, 2013. We took her that day, because we thought she had a really nasty stomach flu. She had been vomiting for five days straight and could not keep anything down. We were worried about dehydration, because she was so weak and needed help getting in and out of bed. She had lost 11 pounds within that short amount of time and had a strange itching/burning sensation on her arms and chest. She was also complaining about not being able to feel anything across her stomach and lower back. We took her to the ER at The Children’s Hospital in St. Louis. The doctors in the ER were concerned, because the stomach flu does not typically last that long with such a dramatic weight loss, and it usually presents itself with lower intestinal issues as well. They were asking about headaches, body image issues, feeling in her extremities, etc. but nothing was making sense. She was admitted that day for dehydration and spent four days in the hospital receiving fluids and getting blood work, along with a host of other tests. The only thing that came back positive was a mono test. We went home with a diagnosis of an “extreme case of mono”. I accepted this diagnosis but not completely. Compared to some of the things they were testing her for, mono seemed like something we could handle, but I was never comfortable with it. I kept questioning the numbness in her stomach and lower back, as well as the burning sensations in her lower arms. I can still picture her blowing on her arms constantly, because she said it hurt when she would rub them. It isn’t that I felt the doctors weren’t listening, but I truly feel that they just didn’t know WHAT to think and chalked it up to the mono. Little did I know, we would be back in four short days.
After we came home from the first hospital stay, things got worse instead of better. Thinking she was dehydrated, we kept forcing her to drink water and broth, but she still could not keep anything down. She continued to lose more weight and got weaker. She was at the point of barely walking at all and would have to be practically carried to the bathroom. Strangely, she would get hiccups that would take over an hour to go away. Even worse, she began blacking-out. The scariest moment was one night, when I was walking her to the bathroom, she blacked-out but did not collapse. She kept saying, “Mom, I’m scared…I can’t see anything. Everything is black.” The next morning, we took her back to Children’s. It was Valentine’s Day.
She was so thin and frail. Her eyes and cheeks were sunken in, and she was so weak. It was one of the scariest moments of my life, as I felt as if I was watching my child waste away. She was, once again, admitted to the hospital. They began giving her fluids immediately, and we settled into our room on the 8th floor. That night, Dr. Hamlin came into our lives, and although we would only know her briefly, we will never forget what she did for our precious daughter. Dr. Hamlin took us out to the hallway and said, “Mom and Dad, we are no longer looking at mono. This is not mono, and we need to go a different direction.” I have never had so many feelings go through me at once, but for some reason, relief and fear seemed to go hand-in-hand. I was relieved to know that someone was recognizing the other symptoms and wanted to look into them further, but I was so scared to find out where it would all lead. She threw out the name of some strange, rare disease that she had only seen once in her professional life. She warned us NOT to write it down and look it up on the internet, because it was such a long shot.
The next 48 hours were a complete blur. By morning, several tests were scheduled including an EEG, CAT Scan, and MRI. The MRI was the last of the tests scheduled for that day, and it took over six hours to complete. That evening, an entire team of doctors came in to our room, several of them being neurologists. Dr. Mahr, the head neurologist, pulled up the images of Annie’s spine on a computer screen. I remember her saying that a perfect spine would have no white showing on the MRI. Annie’s entire spine was white and inflamed from top to bottom. The doctor also pointed to a lesion on her right optic nerve. This would be the second time we would hear the name Neuro Myelitis Optica. It could not be confirmed yet, but the team felt pretty strongly about it. That night, Annie was in the operating room to put a catheter in her carotid artery. It was through this that Annie would receive Plasma Phareses, which basically removed the old blood from her body, cleaned it out, and replaced it with new, healthy blood. We learned that Neuro Myelitis Optica (NMO) was a rare autoimmune disorder in which the cells that were supposed to attack antigens, were also attacking the healthy cells of her spinal chord and optic nerves. Along with the placement of the catheter, Annie would also be getting a spinal tap to test the fluid for the marker indicating a positive diagnosis of NMO, which could take up to two weeks to come back. We spent the next two days in the Intensive Care Unit while she was receiving her first plasma phereses treatment, along with a strong dose of steroids. We would be in the hospital for the next 15 days.
Over the course of that fifteen days, Annie received the phereses treatments every other day and continued on the steroids. While rough at first, we began to see our Annie slowly come back to us. Walking remained difficult, because every time she sat up, her blood pressure would drop dramatically. They told us that her autonomic system was affected, and we would just have to be patient for it to get back to normal. Our feelings and emotions during this time were on a constant roller coaster ride. We would get so excited about small accomplishments, eating being one of them, but could not help but feel utter helplessness and fear of the unknown. It was only a month ago that the same girl was doing back handsprings in a state cheer competition, and now she couldn’t even stand up. I will never forget when a doctor came in to do some tests and asked her to walk on her toes. Before going into cheerleading, Annie was a gymnast. I broke down when I saw that she could not complete this task she had performed so many times before. What would her future be like? Would the treatments work? Would my amazing, active, agile daughter be confined to a wheelchair one day? Surprisingly enough, Annie was the one who got us all through this. She only wanted information when she asked for it and refused to believe that she wouldn’t be WALKING out of that hospital. “I will NOT be pushed out of here!” she said.
Before leaving, the test results we had been waiting for had come back. She tested positive for NMO. Although we were all anticipating it, the reality was truly harsh. We cried and hugged and consoled and realized that from here on, Annie’s life would be different. Doctors, hospitals, tests, and treatments would become the new “normal”. We went over, and over, the different medications being used to treat NMO, and finally decided to go with the Rituximab infusions. It was one of the more aggressive approaches that carried with it some of its own risks; however, studies showed that future attacks were less likely with this drug. It was two days before she was released that Annie received her first infusion of Rituximab. She had an allergic reaction, so what was supposed to take 4-6 hours, ended up taking over 12. Like everything, though, Annie handled it like a champ. It was two days later that she was released from the hospital. And, yes, Annie WALKED out of those doors and has not been in another wheelchair since.
It was scary coming home and not being under the watchful eyes of doctors and nurses, but we were also so relieved to be going back to our own beds and being reunited with the rest of the family. Annie has an identical twin sister and older brother, whom she missed terribly. After another month, she finally went back to school. I communicated with all of her teachers, nurse, and principal to let them know what to look for, but ultimately, Annie knew her body and would know when to go to the nurse and call me. For the most part, she has led a very normal adolescent life. She got back into tumbling to prepare for cheerleading try-outs and was, once again, doing back-handsprings. She made the squad and has recently cheered in another state competition. We have continued with the Rituximab infusions, starting out with once a week for four weeks every 3 months, then going every 6 months. She has gone almost a full year without another attack. The infusions take about 4 hours, and she is typically tired and a bit nauseous afterwards. Sometimes, we keep her from school the next day, but we don’t always have to. She maintained a pretty healthy diet before the onset of the disease, and we have not changed it much, but she does take a complex B vitamin daily.
While I still struggle with the idea that my daughter has an incurable disease, my family has seen so many positive things throughout this journey. The kindness and compassion of others has been overwhelming. Between gift cards, meals, well-wishes, and prayers, we have been overwhelmed and could never fully communicate the amount of gratitude we have to our family, friends, co-workers, and caring strangers. Perhaps what I have learned the most, is that a young, teen-age girl can be one of the strongest people I will ever know. Annie is determined to live a normal life and refuses to let anything slow her down. Yes, she has occasional nerve pain (usually in her arms and legs), and she has days where she just feels tired and sometimes nauseous, but we have learned to watch how severe each of these symptoms are and how long they last. We are also vigilant when it comes to colds and viruses, as her immune system is weakened by the Rituximab. When she was six, she wanted to become a pediatric oncologist, but has since decided to go the neurology route. She wants to help other kids like her and feels she will know what they are going through. Of course, her ultimate goal, is to find a cure for NMO. I have no doubts that this bright, determined young lady will set out to do just that.
I hope that Annie’s story can help to shed some light on such a scary time in some people’s lives and can lead to a better understanding of this rare, unknown disease. While her course of treatment may not be the right choice for everyone, her story can be one of hope for what lies ahead.