Seeking Guidance on Medical Mysteries and Symptoms
**Age:** 27 **Gender:** Female **Height and Weight:** 5’3”, currently around 115 lb (historically 120–125 lb, with recent lows of 89–100 lb over the past two years) My background includes roles as an inpatient psychiatric nurse and a clinical instructor for nursing students, but I have had to step away from these positions due to the severity of my symptoms. **Key Symptoms (emerged in Fall 2022)** - **Severe daytime lethargy / hypersomnia** - **Weight fluctuations and gastrointestinal disturbances** - **Unexplained bruising** - Prominent bruises primarily on my legs, occasionally on arms. - Co-workers frequently inquired about my safety at home due to the severity. - I can remain bedridden for up to a week yet still develop new bruises. - My blood work shows normal platelet counts and clotting factors. - Typically, I do not bruise easily. - **Cognitive and mental challenges** - Experiencing significant brain fog, sluggish thought processes, disorientation, losing track of time, and difficulties concentrating—far more than what one would expect from fatigue alone. - Problems with recalling words, following discussions, and memory lapses (e.g., forgetting ongoing tasks, repeating questions, and losing recollection of significant life events, including a recent separation from my husband). - A formal Functional Capacity Evaluation revealed objectively impaired reaction times and attentional deficits. **Medical History** - Diagnosed with idiopathic hypersomnia (or central hypersomnolence disorder, as described by different specialists). - Juvenile myoclonic epilepsy—currently controlled on brivaracetam. - Papillary thyroid carcinoma (diagnosed in 2017), underwent total thyroidectomy along with radioactive iodine treatment; no signs of residual cancer at this time. - Post-thyroidectomy hypothyroidism, Hashimoto's—currently managing with thyroid hormone replacement. - Known to have “mild gastroparesis” based on gastrointestinal studies yielding borderline abnormal results at the four-hour mark. - Elevated cholesterol levels. - Experiences pelvic floor dysfunction, vaginismus, and chronic pelvic pain. - Ongoing chronic pain with myalgias and joint discomfort (no definitive rheumatological diagnosis). **Medications** - Briviact - Modafinil - Adderall - Prozac - Tirosint-sol - Crestor - Meloxicam as needed - Zofran as needed - Bentyl as needed - Vaginal Valium as needed **Current Insights from Healthcare Providers** - Medical professionals generally concur that I am seriously unwell and face substantial limitations, yet a conclusive diagnosis remains elusive. - Sleep specialists label it as idiopathic hypersomnia and have prescribed a range of stimulants along with modafinil, but my drowsiness persists. - Gastroenterology has diagnosed mild gastroparesis; I await further evaluation following an endoscopy and gastrointestinal motility testing. - Abdominal CT scan shows no blockages, inflammatory bowel disease, or masses; incidental finding of about a 4.4 cm liver hemangioma. - Gastric emptying study indicates normal emptying at one to three hours; however, 13% retention at the four-hour mark—just above the lab cutoff of ≤10%, classified as “borderline abnormal.” - EGD with biopsies revealed normal esophagus, stomach, and duodenum, normal motility, a non-tight pylorus, and identified the gastroesophageal flap valve as Hill Grade I; biopsy results for duodenum and stomach indicated only mild reactive changes and were negative for celiac disease and H. pylori. - I am monitored by a cardiologist due to high cholesterol; I reported recent episodes of elevated heart rates. Evaluations indicated sinus tachycardia, with a peak heart rate of 140, alongside mild trivalvular regurgitation. - Rheumatology has not identified any apparent autoimmune conditions. - Endocrinology claims my thyroid and cancer status are stable and not contributing to my current symptoms. **Lab Results Summary** - **Ketonuria:** Repeated urinalyses confirmed high levels of ketones (>150 mg/dL) and trace protein; blood glucose levels have remained stable for over a year. - **Electrolytes and Protein:** Occasional low potassium (around 3.2) and lower than normal total protein (around 5.7 g/dL) as well as borderline low albumin (approximately 3.5 g/dL) with normal kidney function overall. - **Complete Blood Count:** Intermittent leukopenia (WBC around 3.0 and ANC around 1.3) along with mild anemia featuring macrocytosis (MCV values high-normal to slightly above) and normal platelet counts. - **Micronutrient Levels:** Noted vitamin C deficiency alongside low thiamine levels and sporadic irregularities in iron studies. Once recorded a severe vitamin D deficiency despite regular supplementation for over two years; subsequent tests returned to normal. - **Liver Function Tests:** Generally within normal ranges; slight elevation in GGT while other metrics remained unremarkable. I reached out to the Undiagnosed Diseases Network but was turned down due to resource limitations. I'm feeling a bit lost and could use advice. My healthcare providers have remarked that "the medical system isn’t suited for cases like yours," which resonates with me, but I’m uncertain what my next steps should be. If you were in my situation or advising a loved one, what actions would you suggest or what potential conditions should be investigated?
Answers (1)
12/13/2025, 10:21:02 PM
OpenHealth AI
I'm really sorry to hear about the challenges you’re facing with your health. Your symptoms and the complexity of your situation indicate that you are not alone in feeling lost. Let's break this down into manageable steps and potential areas to focus on, so you can work towards finding clarity and improvement.
Key Points:
Your primary concerns include severe lethargy, gastrointestinal issues, unexplained bruising, cognitive challenges, and fluctuating weight. Although you've been evaluated comprehensively, a conclusive diagnosis remains elusive.
Explanation:
Given your background and the specific symptoms, it sounds like a multifaceted issue could be at play—possibly involving metabolic, neurological, and nutritional aspects. It's vital to ensure no underlying conditions are missed, especially since unexplained bruising and cognitive deficits can sometimes indicate issues like nutritional deficiencies, metabolic disorders, or even rare conditions.
Next Steps:
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Nutritional Assessment:
- Micronutrients: Given your vitamin C deficiency and low thiamine, consider consulting a nutritionist who specializes in complex cases or chronic illnesses. Addressing these deficiencies can significantly impact energy levels and cognitive function.
- Supervised Supplementation: Ensure that you're on a tailored supplement plan, particularly for vitamins like B12, which can affect mood and cognitive function. Monitor your potassium levels closely as low levels can cause fatigue and heart issues.
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Comprehensive Gastroenterology Follow-up:
- Continue pursuing evaluation for gastroparesis and its implications. An endoscopy might have ruled out some immediate concerns, but sometimes further studies (like motility studies) can uncover subtle dysfunctions that affect digestion and absorption.
- Ask about therapies or feeding techniques that can help manage symptoms, such as dietary modifications or potential motility medications.
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Neurological Review:
- Since you experience significant brain fog and cognitive difficulties, consider scheduling a follow-up with a neurologist who specializes in hypersomnolence and cognitive disorders. They may explore additional tests, like brain imaging or new assessments of your epilepsy management, to rule out contributing factors.
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Monitor for Autoimmune Conditions:
- While two rheumatology evaluations have not yielded a diagnosis, consider regular monitoring for autoimmune markers if symptoms persist, particularly for conditions like Sjögren’s syndrome or mixed connective tissue diseases which might not yet have fully expressed themselves.
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Cardiology and Heart Rate Management:
- Since you experience episodes of elevated heart rates, continue monitoring with your cardiologist. Also, ensure you’re addressing fluid and electrolyte balance, which may be contributing to these symptoms.
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Keep a Symptom Diary:
- Document your daily symptoms, including any potential triggers related to food, stress, or medication. This can provide your healthcare team with valuable insights to better understand patterns and correlations that could inform future evaluations.
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Mental Wellness Support:
- Given the emotional toll of your medical journey, consider ongoing support from a therapist familiar with chronic illness. This can offer coping strategies and enhance resilience as you navigate through this challenging time.
Conclusion:
Above all, it’s crucial to be persistent in seeking answers, given your complex health landscape. Connect with healthcare professionals proactively, and don’t hesitate to seek second opinions if you feel your concerns aren’t being fully addressed. You're not alone in this, and continued seeking of clarity and comprehensive care is essential. Remember to take care of yourself through this journey, both physically and mentally.
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