OpenHealth Q&A

Seeking Insights on Persistent GI Issues: A Journey Through Diagnosis

At 26 years old, standing at 5 feet 2 inches tall and weighing 115 pounds, my gastrointestinal troubles trace back to my very first days of life. Right from birth, I struggled with passing meconium, which required assistance. Throughout my childhood, I battled chronic constipation, prompting my mother to frequently administer enemas. By the time I reached grade school, my physician recommended a daily dose of Miralax, which I relied on extensively. Many long hours were spent in the bathroom, grappling with severe gas pain that left me in agony. Eventually, the severity of my constipation lessened, allowing me to cope better with the bloating and discomfort that persisted through my middle and high school years. I underwent an appendectomy at age ten, and shortly thereafter, I began experiencing migraines. Come spring of 2021, I was in my second year working at a plant nursery, where the combination of outdoor heat and my daily routine dramatically shifted my health. Nausea surfaced in the mornings, escalating to frequent vomiting within weeks. My appetite vanished, and despite no noticeable changes in bowel movements, I experienced excruciating abdominal pain one day, culminating in a bowel movement that was the worst I’ve ever encountered—painful, unusual, and accompanied by alarming colors and strange textures. Domestic tensions with insurance delayed my visit to a general practitioner for three months. When I finally managed to see a doctor, I detailed my ongoing nausea, vomiting, abdominal pain, lethargy, lightheadedness, and complete lack of appetite. Following a series of inquiries into possible eating disorders, she referred me to a gastroenterologist and ordered several tests, which included a barium swallow study, ultrasound, and blood tests. Most results came back within normal ranges, although my urinalysis revealed calcium oxalate crystals, and the ultrasound indicated clear kidneys but a cyst on my gallbladder. The swallow study showed evidence of GERD extending into my esophagus, leading to a prescription of omeprazole. My referral to the GI specialist involved additional blood tests for celiac disease and inflammatory bowel disease (IBD), among other medications. They also connected me with a gynecologist to evaluate potential cysts. An endoscopy and colonoscopy were conducted, with checks for microscopic colitis returning negative results, but internal hemorrhoids and gastritis were identified. A CT scan in 2022 revealed fatty infiltration of the liver. After losing track of the MRI follow-up due to staffing changes, I returned seeking assistance from another physician in the group, who left me feeling confused and suggested I may have esophageal sensitivity. Additionally, he proposed an antidepressant, which was not feasible given my psychiatric medications. As my weight dwindled—down 35 pounds in just three months—I turned back to my GP and, after some referrals, received a diagnosis of hypermobile Ehlers-Danlos syndrome (hEDS). I put my gastrointestinal concerns aside while prioritizing my neurological complications and engaging in physical therapy. About a year ago, I revisited a gastroenterologist as my constipation worsened further, though I had fortunately regained some appetite over the prior two years, enabling me to eat half to a full meal daily, which halted my weight loss. However, I started noticing a significant increase in orange and brown mucus in my stool, sometimes to the extent of having only mucus in my bowel movements. This new specialist prescribed a bowel washout, daily Linzess, and a FODMAP diet. After strictly adhering to these instructions while enduring an uncomfortable experience, my efforts yielded zero positive results. Despite keeping a detailed journal, I returned to my norm, but reintroducing foods led to unpredictable consequences—runny stools for several weeks. Now following my subsequent symptoms, it appeared I began experiencing what seemed to be paradoxical diarrhea. At my follow-up appointment, the doctor concurred and adjusted my Linzess dosage. When I met with the specialist again, he inquired about whether I had conducted another bowel washout post-FODMAP diet, to which I replied I was unaware I needed to do so. He encouraged me to perform another washout and experiment with dosing before our next meeting, warning that if improvements weren't observed, we may need to proceed with a colonoscopy. Currently, my stools are rarely "normal"—approximately one out of every hundred follows the mid-range of the Bristol stool chart, appearing without mucus and sinking instead of floating. The variations in color range widely from pale beige to dark maroon and tend to fluctuate. Daily, I grapple with stomach pain and bloating. With extensive research over the past four to five years, my current gastroenterologist now characterizes my issues as IBS-C. I tested negative for both IBD and celiac disease, but I am keen to discuss the possibility of Hirschsprung’s disease, as I recently learned about my early gastrointestinal struggles through my mother. Although I recognize the chances are slim, I feel compelled to mention it in case a colonoscopy is performed, presenting an opportunity to check for it. I’m questioning if the way my symptoms have developed aligns with typical IBS-C presentations or if my concerns are exaggerated. Nothing thus far has provided relief.

Answers (1)

7/29/2025, 6:31:27 PM

OpenHealth AI

It sounds like you've been through a challenging journey with your gastrointestinal (GI) issues, and I commend you for your patience and diligence in seeking answers. Your symptoms and history indicate a complex situation possibly involving IBS-C (Irritable Bowel Syndrome with Constipation) alongside other factors like your diagnosis of hypermobile Ehlers-Danlos syndrome (hEDS).

Main Points

1. Your symptoms and medical history reflect challenges consistent with IBS-C.
2. The presence of mucus and inconsistent stool characteristics may require further evaluation.
3. Considering the possibility of Hirschsprung’s disease is a valid approach, especially given your history.

Explanation

IBS-C is characterized by abdominal pain, bloating, and difficulty in passing stool, which can result in discomfort and changes in bowel habits. The mucus in your stool and variability in stool consistency can occur with IBS, but they can also indicate other conditions that need to be examined, especially given your unique medical history from birth.

Next Steps

1. Bowel Washout and Diet Management:

   • Since further bowel washouts are suggested, it's essential to complete this as advised by your gastroenterologist before your next appointment to aid in assessing your GI function more clearly.
   • Continue to closely follow the FODMAP diet under the guidance of a registered dietitian, as it can help identify specific food intolerances.

2. Consider Further Tests:

   • If Hirschsprung’s disease is a concern, communicate this explicitly to your gastroenterologist, particularly at your upcoming colonoscopy. This way, appropriate measures can be taken to evaluate this possibility.

3. Document Symptoms:

   • Maintain your symptom diary, noting any correlations between food intake, stress levels, and your symptoms. This detail can help your healthcare provider tailor your treatment more effectively.

4. Regular Follow-ups:

   • Attend all follow-up appointments with your gastroenterologist or consider seeking a second opinion if you continue to feel that your concerns are not being fully addressed.

5. Manage Pain and Discomfort:

   • For managing daily abdominal pain and bloating, consider non-pharmacological approaches like gentle exercise (walking or yoga) and mindfulness techniques (meditation, breathing exercises) to help alleviate stress, which can exacerbate gastrointestinal symptoms.

It's entirely valid to seek understanding and clarity regarding your symptoms and diagnoses. IBS can be unpredictable, and navigating it alongside hEDS can add layers to your experience. Prioritize maintaining communication with your healthcare team, sharing updates on your symptoms and any concerns you have. You're proactive in seeking a well-rounded approach to your health, which is vital in managing complex conditions like yours.