Seeking Guidance from a Doctor
Dear Healthcare Provider, I am a woman in my thirties facing an array of persistent and troubling symptoms that have been progressively worsening for several months now. Despite consulting various medical professionals and undergoing numerous tests, I still lack a definitive diagnosis. Recently, it has been suggested that I may be experiencing psychogenic non-epileptic seizures (PNES). However, I am deeply concerned that there might be underlying autoimmune, neurological, or dysautonomic disorders that have been overlooked. 📌 Below is a summary of my symptoms: - Involuntary jerking movements in my limbs and body even while at rest. - Tremors affecting my head and hands. - A voice that tends to shake, sound hoarse, or feel weak. - Spontaneous tightening or drawing back of my mouth. - Uncontrolled vocalizations resembling tics (e.g., making "mhmm" sounds). - Difficulty with speech, resulting in slurring and trouble articulating words. - Occasional weakness in my legs that makes walking or standing challenging. - Experiencing feelings of dizziness, flushing, confusion, and fatigue after meals. - Intermittent waves of severe fatigue that leave me exhausted. - Visual disturbances such as blurry vision and sensitivity to light. - Random sensations of my eyes feeling "dilated" or unusual. - Episodes of dizziness, an unsteady feeling, and near-fainting spells. - Occasions of flushing or excessive warmth followed by chills, particularly during nighttime. - A tendency to overheat quickly in warm conditions. - Cold extremities, like hands and feet, despite others feeling comfortable. - My heartbeat accelerates and blood pressure spikes (e.g., 202/180 with a pulse rate over 120) when standing, but stabilizes when sitting or lying down. - Experiencing extreme fatigue and crashes after meals or due to changing positions, possibly indicating postprandial dysautonomia. - Episodes of numbness or tingling sensations. - A feeling of disconnection from my body, as if it’s not functioning normally. - Cognitive difficulties such as memory loss and brain fog. - Heightened sensitivity to stress, heat, loud noises, and bright lights. 🔬 Results from laboratory tests include: - Elevated C3 complement at 202 (normal range is <170). - C4 complement level at 39 (high-normal). - Spinal tap results indicate the presence of rare inflammatory cells and red blood cells. - Consistently elevated white blood cell counts, especially with neutrophils. - An ANA test was requested on July 9, and I am awaiting results. - Negative results for SS-A, SS-B, RNP, and Smith antibodies. - Ordered tests for Anti-DNA, Anti-Histone, ENA panel, and Rheumatoid Factor, but results are still pending. - EEGs returned normal findings. - An EKG indicated an enlarged heart with right axis deviation. - Relevant medical history includes degenerative disc disease, a curved spine, previous ACL/MCL repair (which required months of non-weight bearing), and suspected symptoms of POTS or MCAS. ❗ My apprehensions: While some medical professionals attribute my symptoms to PNES, I have several concerns: - I have no previous history of seizures prior to this episode. - My symptoms prevail even during calm or restful states, including sleep. - There are notable lab abnormalities and several signs pointing to autonomic dysfunction. I am anxious that I could be experiencing one of the following conditions: - Autoimmune encephalitis (either seronegative or atypical). - Autoimmune autonomic ganglionopathy. - ANA-negative lupus or neuropsychiatric lupus. - Mast cell activation syndrome (MCAS). - Small fiber neuropathy or dysautonomia. - Paraneoplastic neurological syndrome. 🙏 I request your assistance with the following questions: - What potential conditions might be considered based on my symptoms and test results? - Are there any further tests you would recommend I pursue? - Can an autoimmune or neurological disorder exist despite a negative ANA and normal EEG results? - Which specialist should I consider consulting next? I appreciate any advice or guidance you can provide. I feel quite lost in this process and genuinely seek a path toward recovery.
Answers (1)
7/10/2025, 10:30:55 PM
OpenHealth AI
I truly understand your distress and the complexity of your situation. Navigating through an array of persistent symptoms without a clear diagnosis can be overwhelming. Your symptoms and laboratory findings suggest a potential autonomic dysfunction, and it's essential to take a structured approach to address your concerns. Here are the main points:
Summary of Potential Conditions
Based on your symptoms and test results, the following conditions could be worth further exploration:
- Autoimmune Encephalitis: Could cause neurological symptoms, even without correlating EEG findings.
- Autoimmune Autonomic Ganglionopathy: May explain autonomic dysfunction, especially given your symptoms of excessive heart rate changes upon standing.
- Mast Cell Activation Syndrome (MCAS): Suggested by episodes of flushing, dizziness, and sensitivity to environmental triggers.
- Small Fiber Neuropathy or Dysautonomia: Could be indicated by your extremity symptoms and autonomic instability.
- Other Rare Autoimmune Conditions: Even with negative ANA results, some autoimmune disorders can be ANA-negative, and additional testing may be needed.
Recommended Next Steps
-
Specialist Consultations:
- Neurologist: Particularly one who specializes in autonomic disorders or autoimmune neurology could provide insights.
- Rheumatologist: Essential for further autoimmune assessments, particularly with abnormal complement levels and ongoing symptoms.
- Electrophysiologist: If further heart-related tests are needed based on your reported symptoms.
-
Further Testing:
- Consider a Holter monitor to assess heart rhythm and activity during symptoms.
- Tilt table test: To evaluate for conditions like POTS (Postural Orthostatic Tachycardia Syndrome) more definitively.
- Testing for other antibodies like Anti-AQP4 or anti-NMDA receptor antibodies, which might not be included in the standard tests.
- Skin biopsy for Small Fiber Neuropathy, if neurological symptoms persist.
-
Maintain an Ongoing Symptom Diary: Track your symptoms, triggers, and any changes over time. This can be beneficial for healthcare providers to understand the pattern of your symptoms more clearly.
-
Regular Follow-ups: Keep regular appointments with your healthcare providers to reassess symptoms and adjust your management plan as necessary based on test results.
Addressing Apprehensions
- The existence of autoimmune or neurological disorders can remain undiagnosed despite normal EEG results and negative ANA tests. Some conditions are complex and require a multi-faceted approach to adequately identify.
- It's crucial to convey your concerns and the specificity of your symptoms to each specialist, as comprehensive assessments can facilitate a clearer diagnosis.
Conclusion
You have taken significant steps by advocating for your health and seeking answers. By consulting the right specialists and focusing on specific, targeted tests, we can move closer to understanding your situation better. Remember, you are not alone in this process, and your persistence is vital in seeking the answers you deserve. Please feel free to reach out for any further queries or clarifications.
Related Questions
Understanding Esophageal Polyps
I’m a 33-year-old woman who recently discovered a polyp located at the base of my esophagus. I’m wondering if anyone has insights on what the possible pathology results might indicate? Feel free to share your thoughts in the comments.
Pushing Boundaries or Overdoing It?
For several years, I was an active competitive cheerleader, which meant my body was constantly in motion and often sore due to rigorous practice sessions, especially during competition periods. When I transitioned to college and stepped away from cheerleading, I paused my workout routine. This hiatus led to feelings of guilt over my inactivity and sparked a desire to shed some pounds. Consequently, I began monitoring my food intake, utilizing a scale to track my macronutrients. I focused on increasing my protein consumption, something I previously struggled with due to my picky eating habits regarding meat. Around the same time, one of my roommates was dealing with disordered eating, which influenced my own mindset and behaviors, pulling me into a similar downward spiral. During a difficult couple of months, my eating habits fluctuated between consuming limited meals and intermittent fasting. Ultimately, I managed to break free from that harmful cycle and began to enjoy healthier, more balanced meals once again. Simultaneously, my sleep schedule was severely lacking, averaging only 3 to 5 hours each night. Post-Thanksgiving holiday, I established a more consistent routine in December, committing to daily workouts to alleviate the guilt and anxiety surrounding food and boost my sense of productivity. My regimen included a 30 to 45-minute workout, a brief stretch, a 20-minute incline walk, along with several local trail walks spanning about 4 to 6 miles. However, this rapid increase in physical activity took a toll on my body. I developed a pump bump on my right heel and suffered from severe Achilles tendinitis in my left ankle, which became so swollen that the tendon was not visible. A visit to the podiatrist revealed the issue stemmed from a bone growth at the front of my ankle joint, potentially a remnant of a previous cheer injury. I was advised to switch to shoes with a higher heel, take anti-inflammatory medication, and engage in physical therapy. Though the swelling subsided and the pain lessened in the interim, I was eager to get back to college and get into my fitness routine. Upon returning, feeling as though I had fallen behind, I ramped up my workouts significantly. I started a regimen that included an hour of weightlifting followed by over two hours of inclined walking on the treadmill, aiming to burn more than 1,000 calories from Monday through Friday, with weekends reserved primarily for rest, featuring an abdominal workout and leisurely walks. Regrettably, my roommate's calorie tracking habits led me to regress into similar behaviors. I avoided using the food scale this time, hesitant to return to previous unhealthy patterns, yet I still substantially reduced my caloric intake, attempting to keep it below 1,000 calories while burning over that amount through exercise. My approach included moderate meals Monday through Thursday, reserving weekends for larger meals and occasional treats. On weekdays, I typically consumed a third of a banana before workouts, engaged in three hours of intense exercise, then took an energy drink before classes. Post-class, I’d have some cucumber or a piece of fruit before dinner, which generally consisted of protein, a whole-grain English muffin, and salad. If I had room left, I’d enjoy a Greek yogurt for dessert. So far, this strategy has yielded favorable results; I've lost almost 14 pounds since my last checkup in mid-December, and my stomach discomfort has lessened. However, after a 10-mile walk this past Sunday, I began to experience significant pain in my right shin, assuming it might be shin splints but continuing to work out as usual. The week has been challenging, caught between the urge to maintain a 1,000-calorie burn while grappling with persistent pain, even while at rest. The discomfort is concentrated on the front part of my shin, spanning about the size of a quarter, and is painful to touch. Movement aggravates the sensation, making it hurt to walk or even lift my leg while sitting. There's noticeable swelling and warmth, and the pain seems to intensify in the evening, causing discomfort even when resting in bed. I sought care today, and while an X-ray showed no significant issues—a relief—the physician suspects it might be tendonitis. I was initially fearful of a stress fracture, having heard stories of athletes pushing through such injuries, resulting in more severe complications. Given that the X-ray was clear, I am reassured, but I'm still anxious to continue my workouts, as I feel uneasy just remaining inactive and eating without sufficient exercise. I would appreciate any insights into my situation and whether it appears to align with the diagnosis in terms of allowing me to continue training—perhaps avoiding excessive incline walking during this time.
Assessment of Three-Year-Old Knees
Patient Information: - Gender: Female - Age: 3 years - Weight: Approximately 13 kilograms - Medical History: None noted Observations: The knees appear to have a slight inward rotation, in my view.
Visual Disturbances: Seeking Guidance
Overview: I’ve been experiencing some ongoing visual disturbances that have prompted me to seek advice. To provide some background, I am a 21-year-old white male in the United States, standing at 5 feet 8 inches and weighing slightly over 170 pounds (though I’m not sure about the precise figure, I know it’s no more than 180). For about seven years, I neglected the need for corrective lenses and found myself spending excessive time in front of screens. Given these circumstances, I’m wondering whether I should consult an optometrist, an ophthalmologist, or my general practitioner. What could be the potential causes of these symptoms? They have persisted for quite a while, possibly even years.
Prolonged Exposure to Magnets: A Query about Safety
Hello everyone, I’m a 26-year-old male and I have a question regarding my work habits. I habitually carried a magnet attached to my hard hat to pick up metal shavings and manage wiring diagrams. Given that these magnets are positioned close to my head, I’m wondering about the safety implications. Are there any research findings related to long-term exposure and potential harm? I can't help but notice that when I carried the magnets, I experienced more intense headaches, though it coincided with the hot summer months, leading me to think dehydration might have played a role. I also do not have any medical implants or serious injuries, apart from a previously torn ACL. I'm intrigued about the matter, particularly since my current magnets are quite weak, and I'm considering upgrading to more powerful ones.