OpenHealth Q&A

The Journey with Punctate Inner Choroiditis and Behçet's: A 30-Year-Old's Tale

My health struggles began in early childhood, when I faced the challenge of foot deformities, specifically flat feet. This issue resulted in my brother experiencing premature closure of his growth plates, which led to surgeries to create arches in our feet. In these procedures, bones were cut and reshaped, with anchors inserted to keep everything aligned. The result was a lengthy recovery where I relied on a wheelchair for a year and a half. Around the age of 22 to 25, I started to suffer from significant pain in my feet and joints, which I attributed to my job in HVAC and the typical discomfort that comes with it. However, everything changed when, at 26, I was hospitalized due to excruciating pain in my lower left abdomen. The diagnosis was perforated diverticulitis, leading to a five-day hospital stay treated with intravenous antibiotics, after which I noticed my condition deteriorating. Almost a year later, I awoke one morning to find blind spots in my right eye. At the time, I lacked insurance and was busy caring for my mother, who had recently undergone brain surgery, so I chose to dismiss the troubling vision issues. Since that time, I've experienced persistent diarrhea, abdominal discomfort, debilitating fatigue, and an overwhelming sensitivity to heat. Despite undergoing multiple colonoscopies on medical advice, no solutions were found. Fast forward to a year and a half ago, I woke up with severe vision loss in my right eye and blurred sight in my left. Fortunately, I had acquired indigent healthcare due to my inability to work from my earlier health problems, which also allowed me to continue caring for my mother. At the hospital, the doctors examined my eyes, appeared alarmed, and referred me to an optometrist.  That optometrist quickly sent me to a retinal specialist, who confirmed that I had Punctate Inner Choroiditis. It was discovered that both of my optic nerves showed swelling, likely stemming from an autoimmune concern, and I was advised to consult a rheumatologist. While awaiting that appointment, I became severely ill, suffering from high fevers, severe weakness, complete loss of appetite, and emotional distress that led to uncontrollable crying. I lost a substantial amount of weight during this ordeal. After three months of waiting, I finally met with a rheumatologist, who was immediately concerned about my condition and ordered extensive testing. The results revealed that I carry genes associated with Familial Mediterranean Fever and Behçet's disease (specifically HLA-B51). She placed me on colchicine treatment, which significantly improved my symptoms within a fortnight, lifting fever and emotional turmoil, although I still suffered from fatigue and joint pain. The rheumatologist also observed skin lesions and oral ulcers that I had endured for many years, mistakenly believing they were normal. Though I recalled having genital ulcers in the past, I hadn’t experienced them recently. Meanwhile, my GI doctor conducted another endoscopy, diagnosing me with Barrett's esophagus and a hiatal hernia accompanied by mild stomach inflammation. Months later, while managing these issues, my fatigue reached a point where I needed 15 to 16 hours of sleep nightly, with only the energy for two daily activities before requiring rest. My foot problems worsened, resulting in dreadful bunions that caused them to turn outward once again. With ongoing fatigue, joint discomfort, daily diarrhea episodes, and worsening conditions, I sought out a specialist at UT Southwestern in Dallas, a research hospital more familiar with Behçet's. During my first consultation, the staff acknowledged my rheumatologist's approach was beneficial but noted my hypermobility and referred me to a physical medicine doctor for additional evaluation. My regular rheumatologist then prescribed azathioprine, which quickly alleviated my eye issues, eradicating flashers and blind spots—huge relief! Recently, I met with the physical medicine doctor, who conducted a thorough exam and collected my medical history over three hours. In the end, she diagnosed me with hypermobile Ehlers-Danlos syndrome, a condition I had never heard of before our meeting. Consequently, my rheumatologist suspects Behçet's and is treating me accordingly but is hesitant to give a formal diagnosis. Adding to my woes, she is moving away, and local rheumatologists have expressed reluctance to take on a Behçet's patient. This means future appointments will involve a lengthy three-hour drive to Dallas. Familial Mediterranean Fever has not been entirely ruled out due to childhood fever episodes, but treatment for both conditions appears largely similar, leaving me in uncertainty. The past year and a half have been incredibly challenging. Despite numerous medication attempts, I continue to suffer severe pain that does not respond to medications like diclofenac sodium, and my GI doctor advises against ibuprofen and aspirin due to elevated liver enzymes. Unfortunately, over-the-counter options are largely off-limits due to my current prescriptions, and nothing seems to alleviate my persistent pain. It’s difficult to manage life with ongoing diarrhea, joint pain, eye discomfort, and abdominal issues. I’m currently waiting for a decision about disability benefits, yet I’m only 30 and aspire to regain my health, return to HVAC work, and not rely on disability long-term. I apologize for my lengthy message. If you’ve managed to read this far, thank you! I would deeply appreciate any honest suggestions or insights concerning my situation, as I am desperate for guidance.

Answers (1)

6/19/2025, 6:21:02 AM

OpenHealth AI

Thank you for sharing your detailed and challenging health journey. It’s clear that you’re navigating a complex interplay of conditions that impact your daily life significantly. You're seeking guidance and support to manage your symptoms, regain functionality, and improve your overall well-being. Let's break this down and highlight key areas for you to focus on moving forward.

Main Points

1. Multifaceted Health Issues: You have multiple conditions, including Behçet's disease, Punctate Inner Choroiditis, hypermobile Ehlers-Danlos syndrome, and gastrointestinal concerns.
2. Symptom Relief: Your ongoing issues—persistent pain, diarrhea, fatigue, and eye discomfort—require tailored strategies for symptom management.
3. Future Management: Finding continuity in care with specialist resources is vital, especially as your current rheumatologist is relocating.

Explanation

The complex nature of Behçet's disease, inflammatory responses from Punctate Inner Choroiditis, and symptoms from hypermobile Ehlers-Danlos syndrome can certainly lead to the debilitating challenges you're experiencing. It's important to remember that managing such interconnected conditions often requires multi-disciplinary care. Your need for consistent medical advice is understandable, especially given the distance to your specialists.

Prioritized Next Steps

1. Symptom Monitoring: Start a daily journal documenting your symptoms, including their intensity, duration, and any potential triggers (food, stress, activity level). This can help both you and your healthcare team understand patterns and develop more effective treatments.

2. Pain Management Strategy: Since traditional pain medications are limited due to your conditions, consider discussing non-pharmacological approaches with your care team, such as:

   • Physical Therapy: Engage with a physical therapist, especially one with experience in hypermobility, to help strengthen your muscles and stabilize joints—this may alleviate some joint pain and discomfort.
   • Alternative Therapies: Explore acupuncture or massage therapy with providers who understand your overall health context.

3. Diet and Nutrition: Work with a dietitian familiar with your gastrointestinal issues. They can help develop a diet that minimizes diarrhea, addresses Barrett’s esophagus, and supports overall energy levels—consider a low-FODMAP diet if suitable, as it may help manage gastrointestinal symptoms.

4. Stay Connected with Specialists: Given the difficulty in finding rheumatologists who are experienced with Behçet's disease, consider:

   • Telemedicine Options: Ask your current specialist if they can conduct follow-up visits via telehealth, reducing the need for travel.
   • Advocate for Yourself: Reach out to university or research hospitals for referrals to specialists who are experienced with your conditions—maintenance of regular care is crucial.

5. Support Networks: Join support groups—either local or online—specific to Behçet's or chronic illnesses. Sharing experiences with others facing similar challenges can provide emotional support and practical advice.

Conclusion

Your situation is understandably overwhelming, but with a structured approach to managing your health and an emphasis on symptom relief and specialist care, it is possible to navigate these challenges more effectively. Reaching out for psychological support could also be beneficial, as managing these chronic conditions can sometimes be emotionally draining. Take things day by day, and don’t hesitate to seek support from loved ones and healthcare professionals. You're not alone in this, and there are pathways to improve your quality of life.