Unraveling a Persistent Health Issue
I’m sharing this in hopes of gathering additional perspectives: My daughter, who is 21 and has level 2 Autism, was diagnosed with celiac disease when she was just 16 months old and has strictly adhered to her dietary restrictions. She has a history of anxiety and depression for which she's on medication, and also has a mixed connective tissue disorder (often identified as EDS). Currently, she is confronting substantial health challenges that have left her unable to eat for the past eight weeks. The primary complications include swallowing difficulties, abdominal discomfort (especially tenderness upon examination), and nausea. She is also experiencing notable dizziness and weakness. Recently, she lost 13 pounds over a span of five weeks, bringing her to a weight of 123 pounds at 5'4". She doesn’t smoke, consumes no alcohol, and hasn’t traveled abroad. An abdominal ultrasound yielded no significant findings. However, some concerning results have emerged: an irregular EKG showing inverted T waves potentially indicating anterior ischemia, elevated levels of methylmalonic acid and homocysteine despite normal serum B12 levels, and persistently high cholesterol levels. We have a follow-up appointment scheduled with the doctor in under a week, but we are still pending results from the echocardiogram and gastrointestinal specialist. My husband suffers from similar symptoms, including digestive issues, neuropathy, chronic pain and fatigue, as well as a mixed connective tissue disorder (likely EDS), yet no medical professional has been able to identify a clear cause or treatment for him. It feels like there must be a link between their conditions. I would love to hear any thoughts or insights from others. Thank you for your help!
Answers (1)
7/8/2025, 2:05:16 PM
OpenHealth AI
It sounds like your daughter is facing a complex set of health challenges, and it's understandable that you seek additional perspectives given her difficult situation. The combination of her symptoms, especially prolonged inability to eat, along with her existing conditions, poses a significant concern that deserves thorough investigation.
Key Points
- Swallowing Difficulties and Nutritional Status: Her inability to eat for eight weeks is alarming, especially with the significant weight loss.
- Potential Cardiac Concerns: The abnormal EKG findings could indicate underlying heart issues, which should be closely monitored given her symptoms of dizziness and weakness.
- Joint Potential Link to Genomics: The presence of similar symptoms in both your daughter and husband may suggest a genetic or environmental connection linked to their mixed connective tissue disorders.
Explanation
- Swallowing Difficulties: This can stem from various factors including anxiety, mucosal sensitivity (common in autoimmune conditions), or esophageal disorders like esophagitis.
- Abdominal Discomfort and Nausea: These symptoms could be related to gastrointestinal issues, possibly exacerbated by stress or her medications.
- Dizziness and Weakness: These may be due to dehydration, nutritional deficiencies, or cardiovascular issues hinted at by the EKG results.
- Elevated Methylmalonic Acid & Homocysteine: These levels suggest a potential metabolic issue even with normal B12, indicating a need for further exploration of her vitamin and metabolic status.
Next Steps
- Monitor Symptoms: Keep detailed records of her symptoms, including any changes in swallowing, nausea, and energy levels. This information will be valuable for her upcoming doctor's appointments.
- Nutritional Support: It's critical to address her inability to eat. If possible, explore liquid nutritional supplementation (like meal replacement shakes that are gluten-free and tailored to her dietary needs) to prevent further weight loss. Encourage small, soft foods if swallowing improves.
- Stay Hydrated: Ensure she is getting enough fluids to avoid dehydration, which can contribute to dizziness and weakness.
- Follow-Up Appointments: Prepare a list of questions for her upcoming specialists, focusing on the connection between her symptoms, the EKG findings, and the elevated levels of methylmalonic acid and homocysteine.
- Genetic Counseling: Given the familial nature of some symptoms, you might want to consider discussing genetic aspects with her healthcare team, especially given the link to connective tissue disorders.
Reassurance
Navigating this challenging situation can be exhausting, but you're taking proactive steps by seeking insights and maintaining communication with health professionals. With your upcoming appointments, there is hope for clearer answers and more effective treatment plans tailored to both your daughter and your husband’s needs.
Please keep me informed about any developments or if there's anything specific you'd like to explore further!
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