The Challenges of Seronegative Myasthenia Gravis
In this guest post, Cheri Higgason writes about the challenges of obtaining a seronegative myasthenia gravis diagnosis. As someone who has experienced it firsthand, she encourages others to keep pushing for the answers they need.
The first seronegative myasthenia gravis (SNMG) symptoms I noticed were not unlike the first symptoms that many seropositive individuals experience. Looking back, I had symptoms for at least 10 years prior to my diagnosis. I thought they were unrelated, and since MG symptoms fluctuate, it was difficult to put them together until they became much worse.
My symptoms included intermittent eye drooping, vision changes that progressed from blurry vision to overlapping and then double vision, along with abnormal eye movements. When I tried to read, I noticed I would close one eye to eliminate the double vision, but I had no idea why.
Shortness of breath
Prior to diagnosis, I was exercising regularly at a good aerobic level. Gradually, that changed. I was able to do less and less until my shortness of breath made it impossible to exercise at all.
As a cardiopulmonary nurse this made no sense to me. Sometimes my pulmonary patients would tell me I needed pulmonary rehab more than they did when they noticed my shortness of breath. There were times at night that my breathing became so shallow, my husband could not even feel the rise and fall of my chest.
My activity level gradually decreased until I eliminated everything except work. I could not tolerate much activity and the fatigue afterwards was debilitating. I had to lean against the shower wall while showering and lie down afterwards. Getting to work on time became extremely difficult.
While working, I propped myself up with pillows whenever I was at my desk. Eventually, I could no longer climb the stairs. Sometimes my legs quit working. If I rested a few minutes, I could then go a few minutes more, but the rest periods never "fixed" my ability to be active.
Activities that required use of my arms were also difficult. I could hold something close to my body but raising my arms out to the side was much harder. My only relief was to lie down with my head, neck, and arms supported. After lying for hours, I could be up for 15 to 30 minutes before the symptoms started again.
Speech and swallowing issues
I noticed I was choking easily on certain foods, and some were difficult to chew. I learned to avoid problematic foods and drank 4 to 6 glasses of fluids with each meal to get food to go down, basically "blind swallowing” which is not safe. Hoarseness and slurring of words were common in the evening, if I was weaker, or if I was talking more.
Seeing multiple specialists
If not for my wonderful primary care physician (PCP), I do not know how I would have gotten through the diagnosis process. In the earlier phases of my symptoms, it was not easy to put the pieces of the puzzle together. I was seeing multiple specialists for each issue.
I did not recognize my symptoms as actual weakness because the symptoms were not constant, they would come on with any repetitive activity. This could mean weakness occurred just from sitting upright or reading. Now I know that a hallmark of MG is fatiguable weakness, therefore our symptoms fluctuate and vary according to which muscles we are using and generally improve with rest. I was working and raising my family as a single parent so I tried to accommodate what I could and ignore the rest. Eventually, ignoring the symptoms became impossible.
My PCP always told me he knew I had an autoimmune disease, but we may not know which one until it got worse. A rheumatologist berated me, telling me nothing was wrong, and I had fibromyalgia. This was despite her never performing a trigger point exam, and me never complaining of pain – a hallmark of fibromyalgia. She suggested I go to counseling. I was happy to do that and asked for a referral so she would be certain I was doing the right things.
I went to a wonderful psychologist for 2 years, until I could no longer physically tolerate going or the task of driving to the appointments. She was helpful in determining my symptoms were not psychological and was able to document this. But I still did not have answers.
Going through testing
Eventually, a family member noticed my abnormal eye movements. After discussing with my PCP, he ordered testing that ruled out a brain aneurysm. I saw a neuro-ophthalmologist who ordered AChR testing – that was negative. My PCP ordered MuSK testing, which was also negative. He referred me to an MG clinic, but I could not be seen in the clinic because my blood tests for MG were negative.
They did set me up with a neurologist who agreed my symptoms were classic MG. She ordered repetitive nerve stimulation testing and a single fiber EMG test. These were uncertain. I later learned that the testing was not performed to protocol. Some basic criteria, such as body temperature, where not met. Even so, the results were abnormal, but not able to determine a diagnosis.
Confirming a diagnosis
I was again told nothing was wrong but was offered Mestinon® to try. I felt like Cinderella after my first dose. Every symptom improved, but only for about 2 hours. I documented my symptoms and relief, but when I returned for my follow-up, the neurologist told me she was beginning to question my mental health and refused any treatment except Mestinon. It helped tremendously, but it was not enough on its own to maintain my daily function.
I found another neurologist who was willing to help me, but by then I was unable to keep my job, my career of 29 years. That felt devastating. I was referred to 3 other neuromuscular specialists without any help.
Therefore, I traveled over 1,000 miles to see an MG specialist to confirm my diagnosis. After his clinical exam and history, he had no doubt that I had SNMG. He put me on a treatment regimen that my local neurologist would work with.
We are not believed
People with SNMG are often discounted and disbelieved due to their lack of positive testing. We may be told we are faking, have functional neurological disorder, and given advice to get a pet or have a baby to help us feel better. Seronegative patients may experience a delay in diagnosis which results in a delay in any treatment.
When we are not seen or heard, it can be very dehumanizing. I am fortunate that I have clear MG symptoms that are helped by typical treatment, and that I eventually found providers willing to help.
The biggest challenges
My biggest challenge has been being seen, heard, and believed. SNMG patients are often told they have other conditions like fibromyalgia, FND, anxiety, or depression. Luckily, I had notes from a psychologist and a neuropsychiatrist to refute these alternative diagnoses. But many are not so fortunate.
I also fear having to find a new doctor for some reason and my treatment being stopped if they do not believe I have MG. I have a wonderful team now, but several friends have had to find new providers.
MG can take months or years to get under any kind of control so going without treatments is a tremendous and dangerous setback. It is also frustrating that most of the new medications for MG are not approved for SNMG. As a friend says, "we are fighting the same war as other MG patients without the same arsenal of treatments available to us to fight it."
Advice to someone struggling to get a diagnosis
My advice to someone struggling to get a diagnosis is never give up. Make sure you have had all the testing and that you keep a record of all results. Having blood testing and EMG testing prior to immunosuppressants may eliminates the possibility of such treatments interfering with test results. Also discuss testing for other things such as Lambert-Eaton myasthenic syndrome (LEMS), genetic neuromuscular testing, and muscle biopsy.
Be open to other possibilities to make every attempt to get to the root of the problem, whatever it may be. Try to find a physician who will work with you. It is not about demanding a diagnosis or treatment but working together with your provider. If a provider is not working out, getting another opinion is often more helpful. I have not found assistance from anyone who originally discounted me.
Since symptoms are variable, document your symptoms clearly and include factors that worsen or improve symptoms. A written diary as well as photos and videos may be helpful. And again, as difficult as it is, never give up. I wish it were not so difficult. But believe in yourself and keep going until you find the answers you need.
Do you think there is enough awareness of myasthenia gravis?