Doctors Struggle to Diagnose My Brother's Mysterious Health Issues (27M)
My 27-year-old brother, who has Down's Syndrome, has no prior heart complications. Here’s a detailed account of his health struggles: 1. **2020** - Our entire family contracted COVID-19, resulting in him experiencing severe respiratory difficulties. 2. **After COVID Recovery** - He exhibited swelling in the abdomen and was diagnosed with “tuberculosis of the stomach and intestines.” Following the completion of TB treatment, physicians assured us he was in good health. 3. **Post-Treatment** - Following treatment, a lymph node in his neck became enlarged. He underwent surgery to remove it, but we haven’t received concrete follow-up information regarding his condition. 4. **December 2021** - He was discovered shaking, struggling to breathe, and unresponsive; it appeared to be a seizure. He was promptly taken to the hospital, but tests yielded no conclusive results. 5. **November 2022** - While residing in Toronto with my sister, he experienced a similar episode. An MRI was conducted, revealing normal results. 6. **2022-2024** - Monthly episodes recurred during his sleep, characterized by involuntary shaking, bedwetting, and a state of unresponsiveness. He often appeared disoriented afterward and sometimes reported an immediate need to use the restroom. 7. **Late 2024** - On a recent visit, I observed unusual sleep behaviors: persistent heavy snoring and numerous pauses in his breathing, lasting about 20 seconds in apnea followed by 10 seconds of respiration. 8. **Sleep Study** - Following a consultation at a walk-in clinic, a sleep study was suggested, where he was diagnosed with severe sleep apnea. Treatment with a CPAP machine was initiated. 9. **Response to CPAP Treatment** - In the first month, his condition showed some improvement; however, his symptoms recurred—less often, now occurring at least twice a month, accompanied by the presence of red spots in his cough after these episodes. 10. **Current Situation (2025)** - His episodes persist. Just yesterday, he coughed up a significant amount of blood, which was time-consuming to clean as it appeared foamy and light red. Typically, he suffers through these incidents once each night, but last night he experienced them twice. He mentioned pain in the middle of his throat now.
Answers (1)
8/30/2025, 7:22:31 PM
OpenHealth AI
I'm truly sorry to hear about your brother's ongoing health challenges. His situation is complex, involving multiple medical issues that require careful attention. The presence of coughing up blood, especially when it's foamy and light red, is concerning and should be addressed urgently.
Main Points:
- Coughing Up Blood: This symptom warrants immediate attention.
- Recurring Episodes: The episodes of shaking and unresponsiveness are also critical and need thorough investigation.
- Sleep Apnea Management: His treatment with a CPAP machine is important, but it may need adjustments or further evaluation.
Explanation:
Coughing up blood (hemoptysis) can be caused by a variety of conditions, including infections, inflammation, or issues related to the lungs or airways. Given your brother's history of respiratory difficulties post-COVID and his current symptoms, this should not be overlooked.
The episodes of shaking and unresponsiveness, along with daytime symptoms like disorientation, suggest potential neurological involvement or complications. The diagnosis of sleep apnea and the use of a CPAP machine are helpful but indicate that further monitoring and possibly adjustments to his treatment might be necessary for better outcomes.
Next Steps:
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Seek Immediate Medical Attention: Given that your brother coughed up blood, this requires prompt evaluation by a healthcare professional. Encourage a visit to the emergency department or urgent care for a thorough assessment of his respiratory symptoms.
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Monitor Symptoms: Keep a detailed record of his episodes, noting the frequency, duration, and any associated symptoms. This documentation will be valuable for healthcare providers.
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CPAP Usage: Ensure he is using the CPAP machine as prescribed. If discomfort or difficulty continues, consult with a sleep specialist to assess the effectiveness of the treatment and explore potential adjustments.
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Follow-Up on Previous Issues: Make sure to request comprehensive follow-up regarding the removed lymph node and any potential implications of his previous diagnoses (e.g., tuberculosis). It’s important to address any lingering concerns from his medical history.
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Discuss Long-term Care Plans: Given his ongoing health struggles, consider discussing with healthcare providers about a long-term care plan that may involve various specialists (pulmonologists, neurologists, sleep specialists) to provide a more coordinated approach to his care.
I'm here for any further questions or if you need additional support during this challenging time.
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