When it takes Dr. Gregory House to diagnose a patient with the same illness you have on the series, House MD., you know that you have something that is very rare. In Season 1, Episode 18, Babies and Bathwater finds a pregnant woman with odd symptoms that no one other than Dr. House can put together into a diagnosis. House tells them to look at her eyelids (LEMS affects the eye muscles and sometimes one eyelid droops). There is also a scene where she chokes on a wet, cooked piece of pear (LEMS can cause swallowing of the simplest thing to become impossible if it starts to affect the autonomic system). When the doctors look at her and explain that her immune system has attacked various parts of her body, and now is attacking her nerves. They told her she had Lambert Eaton Syndrome. I can’t help but think back to being in that very same conversation, one year ago this month.
For years I had odd nervous system symptoms such as numbness that would come and go over different parts of my body, extreme exhaustion, no ability to build muscle, my vision was deteriorating rapidly and I constantly had severe dry mouth. Not one single doctor could diagnose me. My prior neurologist thought perhaps I had one episode of sclerosis based on her MRI findings(vs. Multiple Sclerosis), and my primary care provider kept giving referrals to new specialists. When one such referral, to my new rheumatologist, started treatment for my recently diagnosed Psoriatic Arthritis, things started getting progressively worse. My odd symptoms started to flare horribly. My legs were numb. My face would often go numb in areas that corresponded with the trigeminal nerve, and suddenly I was having issues swallowing. I reached out to my rheumatologist about these odd side effects and she quickly told me to stop taking the med she had prescribed and to get in to see my neuro ASAP.
It was then that I first met with my very own “Dr. House”, Dr. Roople Unia, who started down the path of many diagnostic tests such as another MRI and a spinal tap. Having a 12” Harrington rod fused in my back makes both procedures unpleasant. Lying flat on my back for the long MRI had me in tears due to it being so uncomfortable; and the magnetic waves affect my nerves during the procedure causing one of my feet to constantly feels like it’s kicking. That was a piece of cake, however, compared to the spinal tap. Having a fusion, rod, and arthritis in one’s back makes for the need of a radiologist to be on top of their game. Unfortunately, this one was not and I ended up having a traumatic spinal tap, which led to a spinal migraine for 10 days following. My back fusion, once again, wouldn’t allow for me to have a “blood patch” to stop the leak of spinal fluid from the spinal column. As painful as all of the procedures were, I was grateful to Dr. Unia for looking as deeply as she could at everything to see what was causing my weakness, numbness, and other confusing symptoms.
I remember full well sitting across from Dr. Unia discussing all of the results from the prior tests. Nothing had come back with an answer (such as Multiple Sclerosis). She looked at me and said, “With your severe autoimmune history and all of this tests coming back negative, I’m beginning to think you have an autoimmune disease attacking your nerves.” She then explained that the test we would need to do was a $1300 Mayo Clinic Blood panel, that we would need to get an insurance prior authorization for. The prior auth was done and then the blood was drawn. For three weeks, I heard nothing.
When the phone rang and Dr. Unia was on the other end, she told me the results. She said “Your Calcium Channel N-Type Antibody is high” and her next breath was “Don’t freak out after you start reading about it on the internet.” She went on to say that what I was dealing with was extremely rare, so rare that most doctors never have a single patient with my disease, Lambert Eaton Syndrome. At any given time, only approximately 400 people in the United States are diagnosed with LEMS.
The reason Dr. Unia made sure to tell me not to freak out when I read up about it on the internet was about 60% of LEMS patients have underlying cancer, often Small Cell Carcinoma, causing the disease. The other 40% are found to have it due to severe autoimmune dysfunction. Due to my overabundance of autoimmune diagnoses as well as my monthly blood work never coming back with any concerning markers, Dr. Unia felt confident that mine was the type that didn’t have any underlying malignancy. Also, my symptoms had begun at least 5 years prior. When a malignancy is a cause of having antibodies attacking your nerves, cancer usually makes its presence known within a few years. However, we still needed to do a chest to pelvis CT scan, just to make sure.
Once the CT scan was done, confirming no malignancy, the first line of treatment was set. This was the most insane loading dose of Solu Medrol, given intravenously to try to suppress my immune response, at Cancer Care of Maine. For five days in a row, 1000 mg of Solu Medrol was infused via IV into my bloodstream. I had no idea what I was in for. From the crazy metallic taste that took over my mouth within a few minutes of the infusion starting, to the absolutely insane increase of my senses’ sensitivity, I was in for a wild ride.
I couldn’t have gotten through the infusions without my tunes.
On the 4th day of treatment, I couldn’t see well when I looked across the lobby from the elevator. It scared me beyond words. Each day the infusion nurse would ask if I had any side effects from the treatment. On that fourth day, I burst into tears when asked about the side effects and I told her about the vision changes. My nurse immediately called Dr.Unia, who replied that I just had to get through those first five treatments. So, armed with a bag of mini peppermint patties to mask the metallic taste, I carried on with my treatment. The last day of treatment I was put in an infusion room that didn’t overlook the parking lot but overlooked gorgeous trees instead. I took my glasses off, because I couldn’t see well, and was shocked when I could see the detail on each of the leaves through the windows! My vision had changed, yes, but for the better!
To say I had no idea what I was in for with the treatment was the biggest understatement of the year. My body being “juiced” was one I didn’t recognize. The glands in my throat were swollen and painful due to the retention of water. I couldn’t think straight. I couldn’t stand the sound of my own breathing and swore I could hear my neighbors’ conversations, coughing, and sneezing. Thankfully I had decided to board my dogs and the kennel had the space to keep them until I was feeling better. My vision was nothing like it was prior to the infusions so I had to dig out a very old set of glasses to try to see as my current glasses were far too strong. The worst part was for some reason the infusions made my LEMS symptoms much worse. The numbness was horrendous and my episodes of not being able to swallow scared me into only sucking on popsicles, drinking smoothies and having soup for days. I cannot tell you how grateful I am to have helpful neighbors and great friends who helped with picking up things I needed at the store when they realized how sick I was from the steroid infusions. It certainly takes a village.
Once the infusion onslaught tamed, something pretty exciting happened. The inflammation my body had been fighting in my neck and back for years was gone. I could relax my head on the back of my chairs and I could turn my neck side to side with ease. These things I hadn’t been able to do for years prior. Then, the side effect of euphoria that can happen with infusions came along. I was so happy to be out of pain, to have my vision improved so much and then the energy to clean, organize, and write all hours of the night. Through all of this, the water retention from the steroids was horrible, but I was feeling a bit better once the LEMS symptoms relaxed again.
After the next Solu Medrol treatment in November of 2016 once again brought about the extreme exasperation of my LEMS symptoms, I started doing research on my own disease. When you have a rare disease, you have to be your own advocate! My neuro was wonderful, but since I was her first patient with LEMS and only one patient of her enormous caseload. I started researching alternate LEMS treatments and with the help of a worldwide Facebook group for LEMS patients (that has only 533 members currently, many of which are family members of LEMS patients). I learned about the efficacy of treating LEMS with Mestinon and with 3, 4 DAP (a med still in trial status). Many conversations and emails later, my neuro agreed to pursue the path of treating me with the trial med along with the Mestinon which I had started in January 2017. She had to first gain the support of the hospital that she works for. There is no quick process and it took 7 months from the request to me finally starting on the 3,4 DAP in June of this year.
Now that I am on a treatment that is minimizing the symptoms and allowing my muscles to work properly, it makes having such a rare illness even more interesting. I look healthy now, thankfully, so when going over my medical history with new providers it brings a lot of questions. One provider actually told me they vaguely remember reading about LEMS in a paragraph in med school. My med list is extensive and letting them know about the 3,4 DAP, that isn’t in any prescription database because it is not yet FDA approved.
I have to educate each and every new medical professional that I sit in front of. Thankfully health education is what I went to college for!
I do have anxiety about something happening causing me to not be able to access my 3,4 DAP that I take at least every six hours. My family knows where my 3,4 DAP is stored because it cannot be just ordered from a hospital pharmacy. I recently ordered a new medical ID bracelet called MyID that actually allows you to store all of your medical information that can be accessed from the web or QR code in an emergency situation. There is a long extensive list of meds that I cannot take due to what those meds can do to muscle reactions. Most providers have little to no knowledge of LEMS, so I need to make them aware, especially if I’m in the situation that I cannot communicate.
Living with a rare disease that takes a doctor as skilled as House M.D. to diagnose is not easy. However, living with such a rare disease that is undiagnosed for years is much more difficult. When I met with Dr. Unia soon after my diagnosis of LEMS, I couldn’t stop expressing my gratitude to her for not giving up. For years there was no explanation for my confusing and progressive symptoms. I knew it wasn’t all in my head, but there were no answers as to why the symptoms were there. Finally having a specialist find the reason for your symptoms is as exciting as finding a map when you’ve been lost for years. There are many paths to choose, but at least you know where you are starting from.
One year after my rare disease diagnosis and having treatments that work for me, I snapped this selfie on my way out the door to meet with the BDN to discuss my blog. Life couldn’t be sweeter.