Seeking Answers for My Health Struggles
I apologize in advance as I have multiple questions and concerns. I'm grateful for any assistance you can provide, even if it’s regarding just one of my queries. **Diagnosis History**: I have been living with anxiety since I was eight, and I’m now 27. Other diagnoses, including depression, ADHD, OCD, and insomnia, have been established more recently within the past year. I suspect I might also have autism and am experiencing seizures, although these have not yet been diagnosed. POTS has been ruled out, although I wonder if that conclusion was incorrect. **Current Medications**: My medication regimen consists of fluoxetine, diazepam, famotidine, atenolol, trazodone, bupropion, and ondansetron. **Seizure Concerns**: A significant worry I have revolves around potential seizures. I recently shared with my therapist the distressing symptoms I experience during what I’ve termed "panic attacks." These episodes involve intense muscle contractions, severe shaking, nausea, a feeling of urgency to use the restroom, and difficulty concentrating, often accompanied by tears and disjointed speech. My therapist suggested that these symptoms appear more seizure-like than anxiety-related. A friend and fellow therapist also concurred with this assessment. Historically, I have noticed that I often feel nauseous before these episodes, which I previously thought was due to anxiety; however, I now suspect that it may serve as a precursor to the seizures, which have occurred intermittently since childhood—sometimes intensifying to 1-3 instances per month, while at other times I may go months without experiencing them. Given this context, could these indeed be seizures? If so, what type might they be, and do they pose a risk to my health? **POTS and Heart Rate Responses**: Regarding POTS, prior to starting atenolol, I observed a dramatic fluctuation in my heart rate, rising from 75 while seated to as high as 150 when standing, occasionally hitting 160-168 during showers. Standing brought on episodes of darkening vision and muffled hearing, similar to underwater sensations. Although atenolol has seemed to stabilize my resting heart rate, the tilt table test I underwent may have yielded unreliable results, as it was performed shortly after commencing medication. Could it be possible that POTS is still a factor despite the delayed test outcomes? **Swallowing Difficulties**: At times, I struggle to swallow water, as my throat seems to resist the motion, leading to unsuccessful attempts at drinking. Interestingly, I can manage flavored drinks, but they sometimes cause discomfort and tendency to regurgitate, especially when bending over. I wonder if GERD could be behind this issue, as my stomach often seems slow to digest, with food lingering for up to 12 hours post-consumption. Could this indicate GERD, or might there be another underlying condition? **Bowel Movement Frequency**: I have also faced severe irregularity, averaging a bowel movement every 7-10 days, with a peak of 12 days. When I do experience this, the abdominal pain is excruciating—resembling contractions rather than standard discomfort—rating around 6-9 on a pain scale. The severity has led me to gag, become pale, sweat profusely, and feel weak. Could this simply be IBS, and what strategies might help normalize my bowel movements? Previous attempts with fiber supplements and medications have proven ineffective. The only thing that yields results is a laxative, which I only take after prolonged periods without relief, yet I’m apprehensive about relying on that method too frequently. **Muscle and Joint Pain**: As the day progresses, I've noted a trend where my entire body becomes sore and achy. This discomfort affects my joints, muscles, and skin, intensifying as night approaches regardless of whether I’ve been active or sedentary. Could this pain be linked to any of my existing conditions, or does it suggest a separate issue? **Migraines**: Finally, headaches that last 1-2 days are also a concern. They cause significant pain with movement, discomfort behind my eyes, and a heightened sensitivity to light and sound. Ibuprofen has provided minimal relief. Are these typical migraines, or could they be related to one of my other health challenges?
Answers (1)
9/12/2025, 5:41:10 AM
OpenHealth AI
Thank you for sharing your health concerns; it sounds like you’re experiencing a complex mix of symptoms. I will address some of the key areas you mentioned, providing clarity and actionable steps.
Main Points:
- Seizure Concerns: Your symptoms may suggest a seizure disorder, but further evaluation is necessary.
- POTS and Heart Rate: It's possible that POTS remains a concern, and your medication may impact test results.
- Swallowing Difficulties: Your swallowing issues, especially with water, could indicate a problem like GERD or another condition.
- Bowel Irregularity: Severe constipation and painful bowel movements may relate to IBS or other digestive issues.
- Muscle and Joint Pain: The widespread soreness you’re describing needs further evaluation for potential underlying causes.
- Migraines: Your headaches might be typical migraines but could also relate to another condition.
Detailed Explanation and Next Steps:
Seizure Concerns:
- You describe symptoms that could align with seizures, particularly if they involve muscle contractions and shaking. These may be focal or generalized seizures. Since they have been intermittent, keeping a detailed diary of episodes (timing, duration, symptoms before and after) is crucial for your healthcare provider.
- Next Steps: Speak to a neurologist about your symptoms for possible monitoring or imaging, such as an electroencephalogram (EEG).
POTS and Heart Rate:
- Your heart rate changes and symptoms when standing can suggest dysautonomia, including POTS, even if the tilt table test was inconclusive.
- Next Steps: Consider discussing a follow-up tilt table test or another form of autonomic testing. Bring attention to how your symptoms change with medication adjustments.
Swallowing Difficulties:
- Struggling to swallow water may indeed indicate an issue such as GERD, especially with your reports of discomfort and slow digestion.
- Next Steps: Keep a food and symptom diary to help identify triggers. Discuss with your doctor the possibility of GERD management strategies or a swallow study if the issue persists.
Bowel Irregularity:
- Severe constipation can be challenging and may be related to dietary factors, medications, or possibly IBS.
- Next Steps: Increase water intake, consider a high-fiber diet (fruits, vegetables, whole grains), and gradually add physical activity. If you have not found success with these changes, discuss different options with your healthcare provider, including a review of medications affecting your bowel function.
Muscle and Joint Pain:
- The achy pain that intensifies later in the day could be related to an inflammatory condition, fibromyalgia, or your existing diagnoses.
- Next Steps: Document when the pain occurs and its severity to discuss with your doctor for possible testing or treatment options like physical therapy or lifestyle modifications.
Migraines:
- Your headache symptoms align with migraine descriptions. They could be exacerbated by stress, fluctuations in sleep, or medications.
- Next Steps: Track your headaches, looking for potential triggers, and discuss preventive treatment options with a healthcare professional, as a tailored approach may improve your quality of life.
Conclusion:
You are dealing with multifaceted health concerns, and thorough communication with your healthcare team is essential. Use symptom diaries to provide your doctors with detailed information, as this can help in diagnosing and managing your conditions effectively. Stay proactive about your health, and address each concern step by step for the best outcomes. Let me know if any area needs further clarification!
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7-Month-Old Child with Abernethy Malformation - Exploring Treatment Options
# 7-Month-Old Child with Abernethy Malformation - Exploring Treatment Options ## [7-Month-Old] Identified with Abernethy Malformation (Congenital Portosystemic Shunt) - Treatment Methods? **Age:** 7 months **Gender:** Female **Height:** Age-appropriate **Weight:** Currently 9 kg, was 2.8 kg at birth **Ethnicity:** Asian **Duration of Symptoms:** Present since birth **Location:** Uzbekistan **Pre-existing Health Issues:** Abernethy malformation (congenital portosystemic shunt), liver hemangiomas, chronic jaundice, anemia **Current Treatments:** Supportive management --- ## INITIAL PRESENTATION (June 2025 - July 2025) Our daughter arrived on **June 27, 2025**, presenting with: - Birth weight: **2.8 kg** - Marked jaundice (yellowing of skin and sclera) - Pale or clay-colored stools - **Bilirubin level: 245 μmol/L** (typically <20) An immediate ultrasound indicated multiple liver anomalies, initially thought to be hemangiomas. --- ## FIRST COMPREHENSIVE ASSESSMENT (August 1, 2025 - 1 Month Old) ### Multislice Computed Tomography (MSCT) with 3-Phase Contrast (August 1, 2025): **RESULTS:** - **Portocaval shunt size: 9.9 mm** (blood bypassing the liver into the inferior vena cava) - **Arteriovenous shunt size: 4.4 mm** - **Portal vein size: 6.1 mm** (patent) - **Three nodular cystic lesions** located in the perivascular area, with largest measuring 11.6×20.7 mm, enhancing during the venous phase - Liver features a heterogeneous architecture, exhibiting irregular enhancement - Gallbladder appears elongated and slightly enlarged - Other abdominal organs exhibit normal findings **RADIOLOGIST’S ASSESSMENT:** "Congenital portosystemic shunt indicative of Abernethy malformation; less likely arteriovenous malformation (AVM); cannot dismiss the possibility of localized liver lesions." **ADVICE:** Seek consultations with an abdominal and vascular surgeon. ### Blood Tests (August 1, 2025): **Complete Blood Count:** - WBC: 10.44 × 10⁹/L (normal range) - **RBC: 2.1 × 10¹²/L** (LOW - indicating severe anemia) - **Hemoglobin: 69 g/L** (CRITICALLY LOW; normal is 117-166) - Platelets: 403 × 10⁹/L (elevated) **Biochemistry Analysis:** - Urea: 1.80 mmol/L (normal) - Creatinine: 33.4 μmol/L (normal) - **ALT: >1000 IU/mL** (EXTREMELY HIGH - severe liver dysfunction) --- ## FOLLOW-UP IMAGING (December 16, 2025 - 5.5 Months Old) ### Liver Ultrasound: **RESULTS:** - Right lobe: 64 mm, left lobe: 43 mm - Liver capsule appears irregular and vague - **Parenchyma: heterogeneous, showing 7 hypo-isoechoic nodules** (sizes range from 11.5×10.7 mm to 17.6×15.4 mm) - Capsule features uneven contours - Blood flow noted during Doppler examination - No dilation in intrahepatic bile ducts - **Portal vein: 3.9 mm** (decreased from 6.1 mm - indicating improvement) - Common bile duct: 1.4 mm - Gallbladder: measures 43.7×9.2 mm (pear-shaped, wall thickness 2.0 mm, homogeneous, free of stones) **ULTRASOUND ASSESSMENT:** "Presence of liver volumetric formations (specifically liver hemangiomas)." --- ## LATEST MSCT (February 6, 2026 - 7 Months Old) ### MSCT with 3-Phase Contrast: **FINDINGS:** - Liver remains normal in size, but shows heterogeneous structure with uneven contrast enhancement - **Portocaval shunt: 9.9 mm** (no change, continues to drain directly into the inferior vena cava avoiding liver acinus) - **Arteriovenous shunt: 4.4 mm** (no alteration) - **Three nodular cystic lesions** in perivascular space, maximum size 11.6×20.7 mm, enhancing in the venous phase - **Portal vein: 6.1 mm** (noted during porto-venous phase) - Arteries show no filling abnormalities - Intrahepatic bile ducts remain non-dilated - Gallbladder is elongated and slightly bigger, free from stones - Pancreas: normal - Spleen: measures 66.9×38.5 mm (not enlarged), splenic vein is 3.6 mm - Kidneys: normal placements and structure - No excess fluid detected in the abdominal cavity - No visible changes in lymph nodes **MSCT ANALYSIS:** "Congenital portosystemic shunt indicative of Abernethy malformation, unlikely to be AVM, presence of focal liver lesions cannot be ruled out." **RECOMMENDATION:** Engage with an abdominal and vascular surgeon. --- ## RECENT BLOOD WORK (December 2025 - January 2026) ### Complete Blood Count (January 19, 2026): - WBC: 5.8 × 10⁹/L (SHOWS IMPROVEMENT) - **RBC: 2.93 × 10¹²/L** (IMPROVED but still low) - **Hemoglobin: 72 g/L** (SHOWS IMPROVEMENT but still low) - Platelets: 223 × 10⁹/L (BACK TO NORMAL) - Neutrophils: 30.0% - Lymphocytes: 64.8% - Monocytes: 4.6% ### Biochemistry (January 28, 2026): - Total protein level: 67 g/L (slightly deficient) - Creatinine: 20.7 μmol/L - **Total Bilirubin: 242 μmol/L** (STILL HIGH - unchanged) - **Direct Bilirubin: 142 μmol/L** (VERY HIGH) - **ALT: 50 IU/mL** (DRASTICALLY LOWER from >1000!) --- ## OVERVIEW OF PROGRESS OVER 6 MONTHS | Parameter | August 2025 | January 2026 | Change | |------------------|-------------|---------------|--------------------------| | **Hemoglobin** | 69 g/L | 72 g/L | ↗ Slight improvement | | **RBC** | 2.1 | 2.93 | ↗ Improved | | **ALT** | >1000 | 50 | ✓✓ MAJOR IMPROVEMENT | | **Bilirubin** | 245 | 242 | → Unchanged (still elevated) | | **Portal vein** | 6.1 mm | 3.9 mm (US) | ↗ Decreased | | **Platelets** | 403 | 223 | ↘ Normalized | | **Shunt size** | 9.9 mm | 9.9 mm | → No Change | --- ## CURRENT SITUATION (February 2026 - 7 Months Old) - **Weight:** 9 kg (good growth rate in spite of condition) - **Jaundice:** Continues to be present (yellow skin) - **Stools:** Remain pale/clay-colored - **Development:** Achieving appropriate milestones - **Energy:** Appears to have a good energy level - **Feeding:** Normal appetite --- ## QUESTIONS FOR r/AskDocs We have been informed this is **Type 2 Abernethy malformation** (portal vein present). **Three treatment avenues have been proposed:** ### Option 1: **Endovascular Coil Embolization** (minimally invasive approach) - A catheter is inserted via the leg vein to access the shunt and deploy coils/plugs to close the abnormal vessels - Pros: No surgical incision, minimal discomfort, short hospital stay (2-4 days), no scars, enhanced safety - Duration: 1-2 hours - Recovery: 2-4 weeks for jaundice to show improvement ### Option 2: **Open Surgical Intervention** - An incision in the abdomen to ligate abnormal vessels and redirect blood to the liver - Pros: Direct visualization, effective results - Cons: Surgical scar, longer recovery time (7-14 days in hospital) - Duration: 2-4 hours ### Option 3: **Liver Transplantation** - We have been advised this is not necessary as the portal vein is functional and liver health is improving. --- ## SPECIFIC QUESTIONS TO CONSIDER: 1. **With a functional portal vein (6.1 mm) and improving liver function (ALT normalized), is it advisable to pursue endovascular closure as the preferred treatment?** 2. **Despite ALT levels improving, the bilirubin remains consistently high (242). Should this be a cause for concern? Is there a prospect for it to normalize post shunt closure?** 3. **Are the hemangiomas/nodules (11.6×20.7 mm) linked to the shunt? Will they likely resolve following shunt repair?** 4. **How urgent is the proposed intervention? Is immediate action required, or is there flexibility to wait a few months?** 5. **What complications should we be vigilant for during the waiting period?** 6. **Regarding endovascular closure - what is the average success rate for infants aged 7 months? Are there concerns regarding the shunt size (9.9 mm)?** 7. **The measurement of the portal vein has shown improvement from 6.1 mm to 3.9 mm; should this be perceived as a positive sign or a reason for concern?** 8. **Are there special directives (diet modifications, medications) we should consider while awaiting the procedure?** 9. **Post-procedure, how long should we expect it might take for:** - Normalization of bilirubin levels? - Return of stool color to normal? - Resolution of jaundice? - Regression of hemangiomas? 10. **Can you recommend any specialized centers for pediatric Abernethy malformation treatments? We are located in Uzbekistan but are prepared to travel (to Turkey, Russia, South Korea, etc.)** --- ## ADDITIONAL INFORMATION - No family history of hepatic diseases - Pregnancy and delivery were normal - No additional congenital defects identified - Immunizations up to date - No history of bleeding disorders - No signs indicative of encephalopathy - Child is alert and engaged --- **I can supply actual MSCT images and comprehensive lab reports if they would be of assistance.** We sincerely appreciate any insights you can provide. We are striving to make the most informed decision regarding our daughter’s care and highly value expert medical opinions. **TL;DR:** 7-month-old diagnosed with Abernethy Type 2 malformation (9.9 mm portocaval shunt, patent portal vein). Liver functionality is improving (normalized ALT) while bilirubin remains elevated (242). Evaluating options between endovascular coil embolization and open surgery. Seeking expert advice on optimal treatment strategy and timing.
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