A few weeks ago, at my monthly check in with my neurologist, we decided we needed to do one more MRI. I’d recently had some eye symptoms that were concerning. When all of my original neurological symptoms started over five years ago, the first thing my doctors considered was that Multiple Sclerosis, yet another autoimmune disease, was behind them. My MRI back then showed areas of demyelination; but my first lumbar puncture was inconclusive. For a few years each subsequent MRI showed no progression with those areas in my brain; but the possibility of MS was always in the back of my mind and a consideration for my providers due to my extreme autoimmune history combined with my neuromuscular symptoms.
Lambert-Eaton myasthenic syndrome (LEMS), an autoimmune disease that affects the nerves and muscles, is so rare that it is barely on any neurologists’ radar. There are two different causes of LEMS, which I was finally diagnosed with in the fall of 2016. Around 60% of people with LEMS find that the cause is a tumor, usually small-cell carcinoma. After having a complete body CT scan that was clear of any tumors, it was verified that I have type of LEMS caused by an autoimmune response. My nerves and muscles wouldn’t communicate properly because the message to communicate (acetylcholine) was being blocked by antibodies. The symptoms included numbness over various parts of my body, extreme leg weakness, extreme exhaustion, loss of strength, loss of muscle mass, much lowered metabolism due to loss of muscle, and just prior to my diagnosis, I was having difficulty swallowing and my breathing was becoming affected upon falling asleep. For five years these symptoms mimicked Multiple Sclerosis but they weren’t an exact match. When symptoms worsened severely last summer, my new neurologist, Dr. Roople Unia at Eastern Maine Neurology Specialists, started from the beginning with another MRI.
When last summer’s MRI showed no progression of the lesions; and my spinal tap showed none of the bands that they look for when diagnosing MS, Dr. Unia looked at me and said “I think you may have an autoimmune disease that’s affecting your nerves.” She pointed to the wall where she had a list of blood tests and explained that we’d have to get a prior authorization done before doing the $1300 Mayo Clinic Blood panel. The blood test took three weeks for results. Dr. Unia called and told me my “Calcium Channel N-Type Antibodies were high” and in her next breath told me not to freak when I read up on it on the internet. Essentially, my immune system has antibodies that block acetylcholine release; and acetylcholine is necessary for nerves and muscles to communicate. It was then that I started to learn all about having an extremely rare autoimmune disease that most doctors have only read about in medical school. I finally had a diagnosis and a treatment plan was started. There are no words to describe how grateful I was for my neurologist to not stop until she found the reason behind my symptoms.
With meds that keep acetylcholine in my body longer as well as the trial med, 3-4 diaminopyrodine (DAP) blocking potassium channels in my nerves which allows for more acetylcholine to make it past the antibodies,I have improved beyond my wildest dreams! The change has been astounding. I feel and look like myself for the first time in many years. At my last appointment we made the decision together to do one last MRI to see if any of my newer symptoms were MS, or if they were also LEMS related. Because there are so few people with LEMS, a neurologist may never have a LEMS patient in their lifetime. This makes it difficult for a provider to know for sure if any new symptoms are LEMS related or not. We talked about the fact that if the MRI found more lesions, we would have to figure out treatment. It would be difficult at best because of unknown interactions between my LEMS meds with any possible MS meds. Many of the MS meds include magnesium, which actually makes LEMS worse. So with the insurance prior authorization done, the MRI was scheduled; and we hoped for the best.
When waking up the morning of such a test, my brain simply won’t stop. The” what ifs” kept going through my mind. What if more lesions are found? What if my new boyfriend couldn’t handle another diagnosis on top of all that I already have? What if we couldn’t treat both? What if I was once again going to become very sick? What if I became wheelchair bound? And my biggest fear ever: what if I couldn’t take care of myself?
Fortunately upon arriving at First MRI, I was greeted with not only staff who were very friendly; but I was also bumped into a former classmate and team mate, Tony Berry, who is their Marketing Director. It was so nice to talk about other things before spending an hour in the big magnet for imaging. Tony was happy to take my photo for this blog and we spent some time talking about our swimming days of long ago.
When the technician, Keith, took me in for the MRI, his calm demeanor calmed my nerves. With having a Harrington Rod in my back from scoliosis surgery, lying on a flat hard skinny table for the MRI can be very uncomfortable; but he made sure pillows were placed in a way that I could be most comfortable. My nerves react to the MRI waves, at times causing jolting of one of my legs. Keith’s explanation about why that can happened reassured me that it was normal for some people. If there’s a 1% chance of something happening, it’s going to happen to me! Within an hour, the MRI as completed and the wait for the results began
I filled the wait with blogging, watching comedies, music, and going “upta camp.” However, the upcoming test results remained in the back of my mind. I have learned to not worry until a doctor tells you to worry. It’s much easier said than done. I’ve found that taking in the beauty around you when going through something so stressful is the best antidote to anxiety.
Yesterday, I finally received the results of my MRI. Dr. Unia quoted the results, which verified that the lesions hadn’t changed and thus did not reflect the pattern of any demyelinating disease. This meant I did not have Multiple Sclerosis or any other disease that damages the myelin in the brain, optic nerve, or spinal cord . At the end of her message she typed *sigh of relief.* This is the type of specialist that everyone deserves. I am so blessed that she not only kept digging until she found an answer; but she truly cares and was just as concerned as I was with the “what ifs.”
I can now continue the treatments that have given me my life back and make the most of each and every day. My decision to open up about my battle in such a public way was to give some of the other 23.5 million in our country who battle autoimmune disease some hope. Perhaps I’ll also give them some inspiration and some resources to utilize when their own bodies are their biggest enemy. I’m just so relieved that I’m not juggling another new diagnosis so my mind can be on writing and enjoying life to the fullest *sigh of relief.*