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!
Related Questions
Chronic Joint Pain Since Childhood
Since I was eight years old, I’ve endured intense and persistent pain in my joints. Initially, the discomfort was primarily in my knees, characterized by a sharp sensation right beneath the kneecap. As someone on the autism spectrum, I often visualize a strange, soothing thought: the idea of removing my kneecap and using an ice cream scoop to relieve the pressure underneath it. My parents sought help from several medical professionals, all of whom attributed my symptoms to growing pains. I even underwent cancer screenings at the age of nine because doctors felt my level of discomfort was excessive for mere growing pains. At school, I frequently had to wear dual knee braces. When I turned 14, I had a CT scan, but the results were inconclusive; doctors continued to insist it was just growing pains. At 18, I had an X-ray that also revealed nothing abnormal. Now at 20, my joint pain persists and is progressively worsening. My hands now ache in addition to my knees, and on particularly bad days, the pain radiates down to my ankles, making walking and sleeping almost impossible for half the week. The discomfort has entirely hindered my ability to work. My family and I strongly suspect that I may have some form of arthritis, but I struggle to convince the medical community of this due to my young age. My father, who suffers from arthritis himself, often empathizes when I express my pain, telling me, "that sounds familiar." I have broken down in front of numerous doctors, pleading for assistance, yet I consistently leave without answers, only to be scheduled for more scans that come back normal. The medical care I have received thus far has been far from satisfactory; for instance, I was prescribed eye drops that nearly resulted in serious damage to my vision when I consulted an eye specialist. This is just one of many frustrating experiences I’ve faced. I feel completely overwhelmed and in agony, and I have no way to reach out for specialized medical help since my only means of transportation is my father, who is also afflicted by arthritis. I feel lost and in deep pain without a clear path forward.
Seeking Guidance on Persistent Chest Discomfort After Extensive Testing
I'm a 43-year-old male, standing at 5'11" and weighing 180 pounds. My journey began around March to April of 2025 when, despite regularly hitting the gym four times a week, I was struck by severe chest pain along with frequent belching and a tight feeling in my diaphragm. At times, the pain became so intense that I feared it might be a heart attack. **Medical History:** In May 2019, I received a diagnosis of **PVS** and have since been under the care of a cardiac electrophysiologist. Upon experiencing these new symptoms, I consulted my EP, who conducted an EKG right then and set me up with a 7-day heart monitor. The results showed no irregularities. Subsequently, I was directed to a cardiologist, who carried out both a **stress test** and an **echocardiogram**, both of which yielded normal findings. Afterward, I returned to my primary care physician, who speculated that my gallbladder might be involved. An **ultrasound** was performed but revealed no issues. I then requested a **chest X-ray**, which also came back normal. My PCP then considered the possibility of a **hiatal hernia** and referred me to a gastroenterologist; unfortunately, that appointment took almost **five months** to materialize. In the meantime, my symptoms persisted, prompting me to cease weightlifting and switch my focus to **cardio and running**. Surprisingly, these activities didn’t exacerbate my symptoms, though the chest pain remained constant. When I finally saw the gastroenterologist, they suggested an **upper endoscopy**, which took another roughly three months to arrange. During this procedure, I was diagnosed with **Eosinophilic Esophagitis (EOE)**, a condition I had not previously experienced. The doctors also placed a pH monitoring device for acid reflux assessment, which indicated **no unusual acid exposure**. Following this, I began a treatment plan that included a swallowed steroid inhaler and an increased dosage of **omeprazole**. Sixty days later, I underwent another endoscopy, which showed that the EOE had largely resolved, with minimal residual symptoms. Unfortunately, my chest discomfort persisted without any improvement. It has now been about **a year** since these issues emerged, and I still have not found substantial relief. A recent chest MRI completed at a dedicated imaging center revealed no abnormalities. I entertained the idea of **costochondritis**, but again, the MRI did not support that hypothesis. The only minor relief I find comes from consciously pulling my shoulders back and expanding my chest. I continue to experience discomfort around my **diaphragm** and tenderness in the area of the **xiphoid process**. My PCP prescribed a steroid pack, which was somewhat beneficial for the pain but failed to alleviate the pressure or constant discomfort. At this juncture, I feel quite lost and uncertain about my next steps. I would greatly appreciate any insights or experiences from others who have faced similar issues. Additionally, if there are any physicians here willing to offer advice, I am open to traveling to find the answers or relief I'm desperately seeking.
Understanding the Reality of End-Stage Pancreatic Cancer
Navigating the complexities of end-stage pancreatic cancer can be overwhelming, and I'm seeking clarity on what lies ahead. My mother, who is 59 years old and weighs about 115 pounds, received her diagnosis of terminal pancreatic cancer in October 2025. Unfortunately, she has largely rejected the option of chemotherapy and is consuming her pain relief medications—specifically oxycodone and morphine—at an alarming rate. While I’m not worried about the dosage, the severity of her pain has reached a level that is becoming unbearable. Despite this, she is adamant about avoiding any hospital treatment, even though that's where she would receive the most effective pain management. I’ve attempted multiple times to get her medical attention, calling both hospitals and emergency services. However, due to her refusal for assistance, they have also turned us down. It was explained to me that taking her against her will could be considered kidnapping. After consulting with various healthcare professionals, I have been informed that her time may be measured in days or weeks. There’s also a chance that she could slip into unconsciousness, leaving me deeply unsettled. I am already in a state of mourning, yet I am desperate to understand what to expect in the coming days. It is crucial for me to prepare myself—emotionally and mentally—so that I can help ensure her comfort in these final moments. Plans are underway to engage hospice care, but the uncertainty fills me with apprehension. This is my mother, and I want to alleviate my fear so I can provide her with the support she needs as she nears the end of her journey. I yearn to be present for her without being entirely consumed by grief before she passes away. Any guidance or insight you could provide would be invaluable. I'm at a loss for what steps to take next and truly desire to navigate this situation with as much grace and readiness as possible.
Concerns After Gallbladder Surgery (Three Weeks Post-Op) - Is It an Infection?
Profile: - Age: 35 - Gender: Female - Height: 5 feet 4 inches - Weight: 160 pounds - Ethnicity: Asian Duration of Symptoms: Last Three Weeks Location: United States Recent Medical History: Nearly three weeks have passed since my gallbladder removal surgery. Over the last few days, I've noticed a small amount of unclear fluid coming from the incision. I just observed what seems to be pus oozing from the surgical site. Although there is slight tenderness when I move or touch the area, it isn't painful. Thankfully, I haven’t experienced any fever or chills, and there’s no unpleasant odor emanating from the wound. Should I continue to clean it with soap and water, or is it necessary for me to visit the emergency room for further evaluation?
Navigating Ear Infections While Traveling in Thailand
**Age:** 23 **Height:** 6'3" **Weight:** 88 kg **Medication Taken:** 1000mg Bactoclav - Amoxicillin with Potassium Clavulanate, along with pain relief and antihistamines. **Summary:** I’m hesitant to consult a doctor overseas only to receive a prescription for the same antibiotics available at a local pharmacy for a fraction of the price. What strategies can I employ to effectively manage this persistent ear infection? Am I being too hasty in my expectations? I have a long history of ear infections, often triggered by exposure to water or any activity impacting my ears. I regularly use a specialized oil before showering to prevent water from entering my ears. While backpacking in Thailand, I've developed a particularly severe ear infection over the last several days. Initially, a course of 500mg amoxicillin seemed effective, but significantly, just yesterday my condition took a downturn, shifting from nearly healed to painfully inflamed. Now, my ear is not only swollen but also incredibly sore. In an attempt to combat this, I’ve been taking 1000mg Bactoclav - Amoxicillin and Potassium Clavulanate, having consumed seven tablets in the last two days; unfortunately, there's been no noticeable improvement. I’m reluctant to seek medical attention, fearing I would be prescribed the same medication I could acquire from a pharmacy, albeit at a much higher cost. Yet, I’m also starting to question the efficacy of the pharmacy’s medication. I’ve only recently begun the stronger treatment since my symptoms returned. Any advice would be greatly valued! In addition, I’d like to share that just a week into my four-month journey, I feel as though my ongoing ear issues are gradually dominating my life. I am incredibly grateful for this travel opportunity, and while my health isn’t at risk in a serious way, these ear complications are becoming quite overwhelming. Could there be surgical options available? Might there be an underlying health concern that I’m unaware of? It doesn’t seem normal to be plagued by constant ringing, popping sounds, and wax buildup in my ears. Moreover, it feels excessive to have to apply products in my ears every time I shower.