OpenHealth Q&A

Seeking Answers: Unraveling a Medical Enigma

I will aim to express my situation clearly and succinctly. Please bear with me as I share my distressing experiences with a complex and progressive condition that remains without a diagnosis. My health issues emerged around April or May of the previous year, beginning with intense spasms in the arch of my left foot that caused my big toe to involuntarily pull downward, rendering it immobile and intensely painful. Soon after, I started experiencing muscle twitching, which initially was confined to my left foot but has since affected both feet and, by October, spread throughout my entire body, including my tongue. Additionally, I have developed tremors that exacerbate with muscle use. Accompanying these symptoms, I have witnessed significant and uneven muscle atrophy that originated in my hands and feet and has now progressed to include all of my limbs, chest, spine, hips, the inner thighs, the left side of my abdomen near my ribs, and my neck. This degeneration has severely compromised my physical stability, leading to falls, trembling legs on stairs, and an overall sense of unsteadiness. I also endure ongoing deep pain in my upper and mid-spine. My background includes chronic pain from multiple abdominal surgeries, culminating in a colectomy in 2016. While I manage some of this pain with fentanyl patches and use morphine on occasion, these medications do not alleviate the spinal discomfort. I find relief only from THC cannabis and ibuprofen gel, with the former having been recommended by another chronic pain sufferer. In June, endocrinology determined that I have autonomic dysfunction, resulting in debilitating symptoms such as vomiting and episodes resembling crashes when I’m in a bath. By December, I began experiencing difficulties with swallowing and breathing. Solid food now has difficulty moving through my system, making meal replacement drinks necessary. I find that reclining at about 40 degrees improves my breathing, while any position closer to upright or flat leads to shortness of breath. Even minor physical activities induce intense breathlessness and excessive sweating. A recent lung function test recorded a Forced Vital Capacity (FVC) of 3L, categorized as "satisfactory" for the moment. In September, I also experienced new urinary symptoms at night, with increased urgency and frequency that I had never encountered before. Intermittently, I have been faced with pituitary axis dysfunction that affects several hormones, including cortisol levels. While it may not be pertinent, I have consistently shown elevated IgM levels since 2022 (around 2.6–3.0) and chronically higher lymphocyte counts (typically in the 5–7 range). Notably, I’ve had instances of red blood cells appearing in my blood tests on three occasions in 2024. Serological tests have not pinpointed any recent viral illnesses (such as CMV, EBV, or HIV). Currently, I am under the care of a neuromuscular specialist who has recorded several observations: • Weakness on the left side of the body • Enhanced reflexes in the upper limbs • Postural tremors • Inability to spread my toes on the left foot • Weakness in hip flexion bilaterally • Fasciculations and tremors in the tongue MRI examinations of my brain and spine with contrast returned normal results, although a previously noted atypical hemangioma in the third vertebra was found to have resolved itself. Despite comprehensive testing for paraneoplastic antibodies returning negative results, I understand that about 40% of cases in this category show no detectable antibodies. Testing for Lyme disease has been negative. Blood tests concerning neuromuscular conditions such as MG, CIDP, and MMN have also yielded negative results. Levels for copper and lead are within normal ranges. Endocrine-related tests have also shown no paraneoplastic activity. My free light chains are increasing but remain within the normal range, therefore indicating no paraprotein presence. Autoimmune testing has produced negative results for both ANA and ds-ANA. A drop in my B12 levels was recorded last October; while injections provided temporary improvement, switching to oral supplements caused a rapid decline again within a month, raising concerns over absorption issues. Nevertheless, my B12 levels aren't low enough to directly explain my symptoms but may exacerbate them in some way. Results from Nerve Conduction Studies (NCS) and Electromyography (EMG) indicated the presence of Peripheral Nerve Hyperexcitability Syndrome, evidenced by widespread fasciculations, which has led to the initiation of lamotrigine treatment. As of now, I have not undergone genetic testing or a lumbar puncture for cerebrospinal fluid analysis. I am currently waiting for an MRI of my lower limbs to evaluate the extent of muscle wasting. Additionally, I have been referred for assessments in swallowing by a speech and language therapist, and a neurophysiotherapy specialist, along with an occupational therapist. Interestingly, there appears to be a potential familial pattern among my children, who exhibit abnormalities in coagulation, muscle weakness, and vitamin deficiencies. If anyone can relate to my situation, has had similar experiences, or has suggestions for avenues I might explore, I would greatly appreciate your insights. — C (35-year-old Female, UK)

Answers (1)

2/10/2026, 11:10:55 AM

OpenHealth AI

I'm truly sorry to hear about the complex and distressing health issues you're experiencing. It sounds like you’ve been through a challenging journey with a range of symptoms, and it’s understandable to seek clarity and support.

Summary of Key Points:

1. You are experiencing progressive muscle spasms, weakness, tremors, and autonomic dysfunction.
2. You have a history of significant abdominal surgeries and a concerning symptom profile that includes swallowing difficulties and breathing issues.
3. There is a potential familial aspect to your symptoms, hinting at a possible hereditary component.

Explanation of Your Condition:

Your symptoms suggest a multifaceted condition that could involve neuromuscular disorders, autonomic dysfunction, or other systemic issues. The combination of muscle atrophy, weakness, and dysautonomia can complicate your situation, and it's commendable that you're seeking answers while already being under the care of a specialist.

Next Steps:

Considering the complexity of your case, here are some prioritized, actionable steps:

1. Genetic Testing: Since you mentioned potential familial patterns, consider discussing genetic testing with your healthcare provider to explore hereditary conditions that could explain your symptoms.

2. Cerebrospinal Fluid Analysis: This could offer insights into possible inflammatory or autoimmune processes affecting your central nervous system. Request this test as part of your further evaluation.

3. Nutritional Evaluation: Given your history of B12 deficiency and malabsorption, a comprehensive nutritional assessment can help manage your diet better and identify any other deficiencies that may be exacerbating your condition.

4. Continue Symptom Management:

   • Pain Control: Continue using THC cannabis and topical pain relief, and stay in contact with your doctor regarding efficacy.
   • Breathing Practices: Work on breathing exercises that can be safely performed while reclining to help improve your lung function, and consult your speech therapist for additional swallowing strategies.

5. Support Systems: Attend any upcoming evaluations with neurophysiotherapy and occupational therapy. They can provide practical strategies for managing your physical stability and day-to-day activities.

6. Monitor Changes: Keep a detailed symptom diary that notes any changes, even minor ones, in symptoms, diet, and medication response. This can help with assessing treatment efficacy and guiding further discussions with your healthcare team.

Always ensure you communicate openly with your healthcare providers about your experiences and concerns, as collaboration is vital in navigating complex health issues. Remember, you are taking the right steps by seeking information and gathering support.