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Rare disease in a big world!
Posted on March 14 2014
The first time it ever happened, my mom rushed me to the eye doctor, who sent us right away to a pediatric neuropthamologist. He looked at my eyes and decided that I needed to have an MRI done immediatly. He was very worried that I had what was called "optic neuritis", and that could lead to many other problems. So we went in for the STAT MRI, and he called later to say that I indeed did have optic neuritis, and we needed to come back in a week to recheck things. So I went back the week later, things were minimally improved but not very much. He had also done some labs, and said those had come back ok. He called this particular incident "a fluke", and told us it would most likely never happen again. The MD elected not to treat my optic neuritis, and to just wait it out. So, that is what we did. Everyday was a struggle to see, and frustrating because it felt like there was noone out there who cared enough to find out why this had happened. A few months later, as I felt I was improving, and finally on the mend... this vicious thing we call optic neuritis came back. We again went straight to this neuro opthamologist, and he proceeded to again tell us that this was a "fluke". He again, elected not to treat my ON, and instead told me to "wait it out."
This whole process happened again, and again.... 5 times just in my high school career, and each time he told me to wait it out. We were told this doctor was the best one around, so we trusted his opinion. I went for a small amount of time without any other episodes of ON, still had permanent damage to my eyes from where the ON had attacked in the past and not been treated. I would notice that I would get a strange pain in the back of my eye and things just didnt feel right, but would ignore it becuase the doctor says its a "fluke" and he wont do anything about it. I cant tell you how many times I have actually had ON because, there were several times that I didnt tell anyone, and didnt go to the doctor because there was no use in it, he wasnt going to do anything anyway.
During this entire time, I had been to see several specialist, a neurologist, an endocrinologist, all for different problems that nobody thought was related to each other. I always had bad migraines, but not the typical migraine, and they were not easily treated with what typical migraines were treated with. This really aweful neurologst that I had at one point, almost went to the point to tell me that I was crazy and nothing was wrong with me it was all in my head. The endocrinologist ran just a couple tests, but said that any more tests wouldnt be worth it becuase alot of things wouldnt show up in a person so young. So, again I was left without any answers, and yet feeling like I was "crazy" and "just making it up", and at times even felt like my family thought that. So, I started believing it myself.
It wasnt until I was through with nursing school, and was working on the job, that things started to come together. I was on my way to work one evening, and I fainted in the elevator. I had lost complete conciousness, and really had no idea what had happened. They sent me to the ER at the hospital to get checked out. They sent me home, and referred me to a neurologist to see if I was possibly having seizures. I got in to see the most amazing neurologist that I could have ever asked for. I literally, owe my life to her, and will always consider her to be a very important person in my life.
When I walked in to her office, I immediatly felt a little better about being there. I was hopeful that maybe, she wouldnt call me crazy, and maybe just maybe she would find something that explained all of the crazy symptoms I had had. As we spoke about the incident that had happened in the elevator, she wanted to get into more of my background story. So, I went on to tell her about my many bouts of optic neuritis, my miagraines that just werent "normal", my dizzy/fainting spells, my constantly fluctuating but "on the high end of normal" thyroid hormone. And as I was telling her these things, you could see the gears ticking in her head. She ordered a slew of tests that day for me to get done. An EEG, just to officially rule of seizures, although she really did not think I was having them. And some lab work, and an MRI. In that lab work she said one of the things she was testing for was called "Neuromyelitis Optica", her exact words that I remember to this day were, "this is a worste case scenario, I have ran this test on alot of people and it never comes back positive. I don't want you to go home and look it up on google becuase it will just scare you." So, after that I didnt think anything of it.
I came back to her office 2 weeks later for results of all the tests that had been done, my mom was with me. When we got out of the car I told my mom "I dont even know why we are here, shes just gonna tell me everything is fine and im crazy, just like everyone else has." As we entered the room to wait on the doctor, a medical student came in to do my assessment first, which I thought was odd, but said Ok no problem. She then went and got my MD and they sat down. The MD continued to say that, my EEG was normal so i wasnt having seziers, my MRI was "ok", and most of my labs were "ok". Then, she hesitated... I will always remember this hesitation. She continued to say "You remember that lab test that I told you about, the one that was almost never positive, well your came back very much positive." I wasnt sure what this meant, but all I knew was that it wasnt good. I dont remember much about the appointment after that. All I remember was tears streaming down my face. She continued to say, that this disease that I have called Neuromyelitis Optica, was extremely rare. It was an autoimmune disease. There was only about 4000 people nationwide who had been diagnosed with it. It was at all a fun disease, and was often times not very well treated. It can come with some nasty side effects, and teh treatment options are not fun. It will present as ON, or as Transverse myelitis. It is similar to MS, and is often misdiagnosed as MS, but it presents in a very different fashion and is much more severe than MS. (I was very aware of what MS was at this point in time, as my husband is disabled from MS.) She felt that I needed to see another specialist who was more familiar with the disease to get a definitive treatment plan, but that I needed to get on some treatment of some kind and needed to do it soon. I left there feeling, almost numb. Not knowing what to think, but knowing that now I had a "diagnosis", a name to put with all of my mysterious symptoms, and that in a way, made me feel relieved. This disease is normally coupled with another autoimmune disease, it normally doesnt come alone, so my MD sent me to get more labs done, and I would come back and see her in a month.
In the mean time I got an appt with the another specialist who was more familiar with to disease to get a treatment plan. When I saw her, she recommended that I start a drug called "Rituxan". It is a chemotherapy agent, and it is given IV. She said that this was a life changing diagnosis and that from here on out, things would be different. I left her office, feeling a little bit more knowledagble about the situation. My labs had come back with no other autoimmune diseases, so I felt like I was on a good path. A few weeks later, I had my first round of Rituxan, and it was rough on me. I didnt handle it well, and so it took far longer than expected to recieve the infusion, and then I was pretty sick for a while after that. I had 2 doses of the Rituxan within 2 weeks of each other and then I got a break. I did this every six months, and the goal was to prevent future attacks. There was not a cure for NMO, but hopefully this rituxan would prevent further attacks.
It worked pretty well until January of 2013. It started in my right eye, the same familiar pain and vision decreasing. I was instructed to immediatley call the MD if this happened again, becuase early treatment was key. I called my MD and by the time I was able to see her the next day, the ON was now effecting both eyes which had not ever happened before. I failed every test they gave me, my vision had went from Ok in both eyes, to legally blind in both eyes. I was scheduled for immediate IV steroids to hopefully stop this attack. I had 3 doses of steroids, and I felt nothing but worse. I had started to have bad pains in my legs, and by about the morning of the fourth day it was very hard for me to walk without assistance. I had fell a couple times at home, and at that we called the doctor and told her something wasnt right. She immediatly admitted me into the hospital, and said the intention was for plasmapharesis. This would filter all the bad antibodies out of my system, and hopefully stop the attack.
My first round of PLEX I almost coded in the middle of it. My heart rate dropped to an unreadable measure, and the PLEX had to be stopped until I could stabalize. The MD told my mom that my calcium level had dropped to a dangerous level which made my heart rate almost stop. Once they were able to give me calcium, I stabalized. I was in the hospital for a total of 14 days, I recieved 7 PLEX treatments. I worked with PT, and recieved lots of medication to hopefulyl stabalize me attack. By the time I was discharged from the hospital, I was able to walk with a walker, and could see about 50% better of what I could when I was admitted. I went through 3 long months of physical therapy, to try to get my legs back.
I finally felt semi-ready to go back to work and I was again attacked with a spinal cord attack. This time, I was immediatly admitted to the hospital, and given 5 days of IV steroids. They were successful in treating my attack this time and I was able to avoid PLEX. After I was discharged I went through 2 more months of physical therapy and my MD thought I was ready to return to work.
I however, was not so sure. During this time of being out of work, I had developed a great amount of anxiety about going back to work, about having another attack, about life in general. I was to a point where I didnt even want to leave my house becuase I was afraid something would happen. I was terrified of having another attack, I was terrified of failing at my job and not remembering how to do my job when I returned. I was an emotional roller coaster. My MD suggested that maybe I start seeing a psychologist to help with all of these feelings. And I graciously agreed. I felt that I needed help with this as well, and I knew this was no way to live. After about a month and a half of therapy, I felt like I was able to return to work. I returned on a PRN basis, only working a few hours at a time. I gradually worked myself back up to full time, and after about 3 months was able to work full time again. Total I was out of work for about 6 1/2 months. I was so lucky that my employer kept my position waiting for me, and were so flexible with me to be able to return on a gradual basis.
Since all my last big attack, I have done pretty well. I was diagnosed with another autoimmune disease called Hoshimotos Thyroiditis, that again explained alot of my other symptoms, and went with the NMO diagnoses by being coupled as another autoimmune disorder. I have had one other attack since then, and it was an ON attack. I was able to treat it with steroids again. I consider myself a very lucky person. This is a piece of my story, and I know many other people who I have met along the way, through support groups and such that have it much worse off that I do. I was told to expect the worste. One day I probably wont be able to walk, may be totally blind. It is just up in the air. But for now, I am trying to live my life one day at a time, and deal with what comes day by day.
I have had an amazing support system through all of this. My husband has been by my side through every single obstacle. He has taken care of me, and been my care giver when I wasnt able to walk or even bathe myself. My mom has been there to support me, and fight for my care, and make sure that I got the best treatment available. My sister has kept me sane, always was there when I just needed to get out of the house and ride around. My step-dad has always been there for anything I would ever need. My best friend has been there, with flowers and baloons, and fingernail polish to paint our fingers "NMO green". I could not ask for a better support system, and I am so blessed to be able to say that.