OpenHealth Q&A

Seeking Clarity on Mysterious Neurological Condition

I’m reaching out in hopes of gaining insight regarding my troubling health situation. My weight is 128 lbs, and my age is 28. My existing health concerns include Hashimoto's thyroiditis (well managed), Raynaud’s phenomenon, polycystic ovary syndrome (PCOS), hypertension, sacroiliac joint dysfunction, a repaired aortic coarctation (currently no issues), and gastroesophageal reflux disease (GERD). Doctors have speculated that I may be dealing with hypermobile Ehlers-Danlos syndrome (hEDS) and postural orthostatic tachycardia syndrome (POTS). Currently, my medication regimen includes metoprolol, levothyroxine, and omeprazole. I typically don’t share my medical journey, so I apologize if I come across as disorganized. Last year, I underwent an epidural steroid injection in my spine without realizing I had sacroiliac joint dysfunction, which took a decade to diagnose. Post-injection, I experienced an alarming sensation of a sharp pop in my back, followed by numbness and tingling in my groin area, leading to a hospitalization where any spinal issues were ruled out. Following this, I began to have episodes of leg weakness accompanied by involuntary muscle twitches. I struggled to walk around the house and found navigating stairs particularly difficult. After experiencing a few more of these flare-ups, I sought help at the ER but was sent away from triage after a doctor berated me for my visit. This was unfortunately part of a broader pattern of dismissive treatment. Fearing the epidural had caused a spinal issue, I consulted various orthopedic specialists and eventually a neurosurgeon, but none could provide answers. During this time, I also had low-grade fevers and noted swelling in the right side of my neck, which now feels less relevant. In June, I encountered severe swallowing difficulties, with food getting lodged in four different spots in my esophagus, which resulted in choking on saliva. An emergency room visit led to a chest CT scan revealing fluid in my esophagus and thymus hyperplasia. Despite this alarming finding, an urgent endoscopy a few days later yielded no new information, as I was unable to swallow at the time. By July, additional symptoms arose, specifically facial droop, particularly noticeable around my mouth, prompting another visit to the ER, spurred on by my family’s concern regarding a potential stroke. I also began having adverse reactions to iodine contrast, necessitating steroid pre-treatment before a CT scan. At this point, I felt a drastic weakness and struggled to maintain control over my body, with rapid breathing as a particularly concerning symptom that hadn’t manifested in previous imaging sessions. After a couple of hours in the ER, a doctor informed me I wasn’t trying hard enough during evaluations and discharged me, despite my lack of response and severe facial immobility. My condition peaked in intensity for about a week, with nighttime episodes of gasping for air and notable weakness, although I occasionally felt normal between these episodes. I subsequently consulted with a neurologist who entertained the possibility of myasthenia gravis (MG). Various tests, including acetylcholine receptor (AChR) and muscle-specific kinase (MuSK) panels, returned values below the threshold yet not to zero, leading to a negative classification. Additional tests for dysautonomia and tumor markers also came back negative. A single-fiber electromyography (SFEMG) test was deemed normal, although I felt the neurologist conducting it was critical of my performance due to the ongoing facial drooping. Despite having recently trialed mestinon with positive results—wherein symptoms notably improved, especially when tracked photographically—my neurologist dismissed the relevance of the medication, attributing my breathing troubles to lung-related issues, despite my insistence that they correlate strictly with flare-ups. Currently, I have been diagnosed with small fiber neuropathy based on light sensations in my feet, symptoms I had noticed long before my recent issues. I’ve undergone several investigative procedures, including a standard EMG (which appeared normal apart from a minor anomaly attributed to my stress), a head CT (normal), cervical spine CT (showing minor narrowing and congenital fusion), and a lumbar MRI (slight bulging but within normal limits). Routine blood screenings have mostly shown normal results, with one exception indicating low vitamin D and normal levels of B12 and magnesium. A home sleep study also came back normal, while a chest CT earlier this year revealed slight lung scarring but no thymus hyperplasia at that time. The symptom patterns align quite closely with myasthenia gravis, particularly with increased severity following physical exertion. Even minor tasks like attending meetings leave my hands weak, cause facial drooping, and lead to swallowing difficulties. When I take mestinon, I experience significant relief from my symptoms within about 15-20 minutes. My primary concern revolves around the respiratory symptoms, especially the episodes where I wake up gasping for air. Fluctuations in my condition can occur rapidly—resting for just an hour can alleviate my symptoms somewhat. Although neurological examinations yielded normal results, I've also dealt with episodes of double vision. Could this still indicate myasthenia gravis, or should I be considering other diagnoses? Could small fiber neuropathy explain the effects of mestinon? Navigating this process has been challenging—especially after a second opinion advised I was too complex for their practice—and I feel like I am running out of time. I ceased taking mestinon upon being told I likely don’t have MG, but now all my symptoms have returned, and I find myself entering another flare. I realize I should probably resume the medication, but I’m concerned that if I don’t exhibit symptoms during evaluation, doctors won’t take me seriously. This entire experience has severely impacted my mental health and my overall quality of life. All I want is to find some help and regain a sense of normalcy in my life.

Answers (1)

9/10/2025, 2:40:59 AM

OpenHealth AI

It sounds like you are dealing with a complex array of symptoms and diagnoses, and it's understandable to feel overwhelmed by the uncertainty and challenges in managing your health. Let's aim to clarify your situation regarding the concerns about myasthenia gravis (MG) and small fiber neuropathy, while also focusing on some actionable steps you can take.

Key Points to Consider:

1. Possible Myasthenia Gravis: Your symptoms—particularly the muscle weakness linked to activity, facial drooping, and response to mestinon—may suggest MG, despite previous negative tests.
2. Small Fiber Neuropathy: This condition can cause the sensations you’ve described but doesn't necessarily explain the response to mestinon; thus, the two may coexist.
3. Mental Health Impact: The ongoing health uncertainty and physical symptoms can significantly affect your mental well-being, which is very valid, and you should prioritize addressing this aspect of your condition.

Explanation:

Myasthenia gravis is an autoimmune disorder that disrupts communication between nerves and muscles, leading to weakness that typically worsens with exertion. Your improvement with mestinon suggests there may still be an underlying issue that hasn’t been fully explored or tested. Small fiber neuropathy can coexist with MG, as it often relates to nerve function but usually impacts sensation rather than muscle strength directly.

Actionable Steps:

1. Reconsider Medications: Since you noted improvement while taking mestinon, consider resuming it, especially if symptoms are significantly impacting your daily life. Document any changes or improvements for your next consultation.

2. Keep a Detailed Symptom Diary: Track your symptoms, including timings, triggers, and responses to medications. This will help provide a clearer picture to your healthcare provider and may validate your experiences during assessments.

3. Reach Out for Support: Given the mental health strain, consider talking to a mental health professional who understands chronic illness. Support groups may also offer comfort and shared experiences.

4. Advocate for Yourself: Continue seeking specialist opinions (e.g., neurologists familiar with autoimmune conditions or specialists in dysautonomia). It might be beneficial to explicitly communicate that you have concerns regarding MG symptoms and the role of small fiber neuropathy.

5. Explore Additional Testing: Request consideration for specialized tests or re-evaluation of previous tests that could provide more insights—such as imaging studies targeted at the thymus, or a repeat of the SFEMG under different conditions when your symptoms are active.

6. Prioritize Lifestyle Adjustments: Focus on maintaining a balanced diet with adequate vitamins (consider supplementation for vitamin D), manage stress through relaxation techniques, and incorporate gentle physical activities suited to your condition that promote well-being without excessive exertion.

By documenting your symptoms and advocating strongly for your health, you may find a clearer path towards understanding and managing your conditions. You are not alone in this journey, and continuing to seek information and support can help you regain a sense of control. If you need further advice on how to approach specific medical consultations or lifestyle changes, feel free to ask.