OpenHealth Q&A

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:

1. Autoimmune Encephalitis: Could cause neurological symptoms, even without correlating EEG findings.
2. Autoimmune Autonomic Ganglionopathy: May explain autonomic dysfunction, especially given your symptoms of excessive heart rate changes upon standing.
3. Mast Cell Activation Syndrome (MCAS): Suggested by episodes of flushing, dizziness, and sensitivity to environmental triggers.
4. Small Fiber Neuropathy or Dysautonomia: Could be indicated by your extremity symptoms and autonomic instability.
5. 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

1. 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.

2. 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.

3. 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.

4. 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.