OpenHealth Q&A

A Mysterious Multisystem Illness Affecting Three Family Members: A Six-Year Quest for Answers

Greetings, I am reaching out to this community in search of insights, questions we might have overlooked, or guidance toward a potential solution. Our medical journey has stumped numerous healthcare professionals. Let me introduce our family: I’m a 57-year-old woman with two sons aged 25 and 33. We are of Caucasian descent and hail from Europe. Our family does not partake in smoking, alcohol, or recreational drug use. Here are our physical details: - My height and weight: 162 cm / 60 kg - Older son: 185 cm / 77 kg - Younger son: 180 cm / 64 kg Until 2019, we enjoyed robust health and an active lifestyle. However, within a brief span of five months six years ago, all three of us suddenly developed a perplexing multisystem illness with symptoms progressively worsening and new ones emerging. There was no identifiable catalyst—no infections, vaccinations, toxic exposures, or travel events that preceded the onset of our symptoms. Current Shared Symptoms Among Us: - Severe food intolerances affecting almost all foods and medications - Gastrointestinal issues: includes belching, constipation, bloating, rumbling intestines, and acid reflux - Neurological symptoms: debilitating headaches, severe eye strain (even without the use of screens), muscle twitching - Cardiovascular/autonomic issues: heart palpitations, signs consistent with POTS - Dermatological problems, joint discomfort, and persistent fatigue What We Have Dismissed: We have thoroughly tested for numerous conditions using PCR, serologies, imaging, and functional assessments, all yielding negative or normal outcomes: - Infectious agents: ruled out H. pylori, Lyme disease, EBV, CMV, HSV, HHV-6, Parvovirus B19, enterovirus, Mycoplasma, Chlamydia, tuberculosis, as well as various bacteria, viruses, and parasites - Gastrointestinal diseases: excluded IBD, eosinophilic esophagitis/gastroenteritis, celiac disease, Whipple’s disease - Endoscopic procedures revealed inflamed gastric lining, attributed to bile reflux, yet doctors have not traced the source of this abnormal reflux. - Autoimmune and allergic disorders: tests related to ANA, ANCA, MCAS, and others all returned negative or normal - Toxic exposure: tests for mold/mycotoxins, heavy metals, and environmental toxins came back negative - Metabolic/genetic disorders: eliminated possibilities such as Wilson’s disease, porphyria, hemochromatosis, and various inborn metabolic errors - Nutritional evaluations, along with treatments involving PPIs, antibiotics, probiotics, anti-parasitics, restrictive diets, and antihistamines, failed to yield improvements. Peculiar Test Findings: Despite the lack of conclusive results, we have noted several persistent abnormalities: - Immunological & Inflammatory markers: - Heightened levels of eosinophilic cationic protein (ECP) despite normal levels of eosinophils, tryptase, and histamine - Increased oxidized glutathione, while reduced glutathione remains normal - Elevated TNF-alpha, neopterin, and TGF-beta1 levels - Mild immune dysregulation (without fulfilling autoimmune disease criteria) - Specific findings for each family member: - Younger son (25): elevated IgG4 and fluctuating ALT (up to 100 u/L) - Older son (33): heightened total bilirubin (39 μmol/L) and direct bilirubin (10 μmol/L), along with increased total IgM and slightly elevated IgG4 - Myself: mildly raised amylase (120 u/L) and elevated total IgM We find ourselves at a standstill. We desperately hope to connect with anyone who may have faced a similar situation involving multiple family members and multisystemic symptoms, or who might recognize an uncommon pattern. We would greatly appreciate any thoughts, questions, or even unconventional ideas. Thank you for your time.

Answers (1)

6/21/2025, 10:10:47 PM

OpenHealth AI

It's understandable to feel overwhelmed after a long and complex medical journey with your family. To summarize, you are dealing with a perplexing multisystem illness affecting all three family members, accompanied by various symptoms that have resisted diagnosis despite extensive testing.

Explanation of Your Situation

The combination of symptoms you described—severe food intolerances, gastrointestinal issues, neurological symptoms, cardiovascular/autonomic problems, dermatological issues, joint discomfort, and persistent fatigue—suggests a possible systemic issue that might not be easily classified under typical diagnostic categories. Since traditional testing has yielded mostly negative results, you may be encountering a condition that is less understood or not yet well defined in medical literature.

Next Steps

Here are some structured steps and considerations that may help guide you in your search for answers:

1. Symptom Tracking:

   • Keep a detailed symptom diary for each family member to document patterns in symptoms, triggers, and any potential connections to food, stressors, or environmental changes. This can provide valuable insights for future medical visits.

2. Dietary Management:

   • Given the severe food intolerances, consider working with a nutritionist specializing in food sensitivities or gastrointestinal disorders. An elimination diet may help identify specific triggers, ferreting out what exacerbates symptoms.

3. Immunological Follow-Up:

   • Since you noted immune dysregulation, consider seeking out an immunologist who may explore rare immunological disorders or mast cell activation syndrome (MCAS) further. The elevated levels of specific immune markers could indicate an underlying condition that standard tests have overlooked.

4. Genetic and Metabolic Evaluation:

   • Given the strange lab findings, consulting with a geneticist or metabolic specialist may be beneficial, especially to explore rare genetic disorders or cellular metabolic issues that could affect multiple systems.

5. Multidisciplinary Approach:

   • Involve a team of specialists: a gastroenterologist, neurologist, rheumatologist, and possibly a toxicologist or environmental medicine expert. This multidisciplinary approach may help identify overlapping conditions that are being missed when viewed separately.

6. Alternative Therapies:

   • Explore integrative approaches such as cognitive behavioral therapy (CBT) for pain management, stress relief techniques, and possibly acupuncture, which can provide symptom relief for some chronic conditions.

7. Research and Community Support:

   • Consider enrollment in clinical trials targeting unexplored conditions that match your symptoms. Connecting with patient advocacy groups or forums may provide leads on others with similar medical experiences, aiding in symptom understanding.

Conclusion

While I realize the search for answers has been lengthy and frustrating, continuing to advocate for yourselves within the healthcare system is vital. Each small step—tracking symptoms, evaluating dietary changes, and collaborating with a variety of healthcare professionals—will help guide your path toward clarity. If you need help with next steps or specific resources, please feel free to ask.