OpenHealth Q&A

A Plea for Assistance: My Father's Struggle with Mysterious Illness Over Six Years

Greetings. At this juncture, I find myself compelled to reach out in desperation. My father, aged 61, has faced a debilitating illness for the past six years. We have consulted with over 40 medical professionals and specialists, he is on numerous medications, and has endured countless examinations, yet his condition continues to deteriorate. The most alarming aspect is that no one has been able to diagnose his illness properly. **The Onset of His Illness:** Six years ago, I visited my dad for our usual morning coffee only to discover him gasping for breath and experiencing chest pain while seated in his chair. Assuming he was having a heart attack, I called for an ambulance, and he was taken to the emergency room. Heart tests yielded no concerning results, aside from high blood pressure. Sadly, he has never returned to his former self. Since that day, his ability to walk and breathe has significantly decreased, with his body seemingly malfunctioning in numerous ways. **Progression of Symptoms:** Currently, he struggles with proper respiration. His home and clinical exhalation tests reveal alarmingly poor results that have slowly worsened over time. About five years ago, he was given a CPAP machine, which offers minimal relief during the night. Walking even short distances presents a challenge, and he has almost no sense of balance, relying on crutches or a walker depending on the situation. Moving his legs poses considerable difficulty, particularly in lifting them; this year, doctors diagnosed him with muscular dystrophy in his legs. During a walking test designed to assess how far one can walk in six minutes, he managed roughly 20 meters. He frequently stops, yawning and gasping for air after only a few strides. His legs may also experience extreme pain, especially at night. His lack of balance remains concerning. Neurologically, his nerves exhibit abnormal functionality. Tests show that the nerves in his legs and feet are under-responsive, with any response being both sluggish and weak. Additionally, he endures significant tremors in his hands, which are hardly present at rest but become exacerbated with even minor activities, like lifting a cup. His blood pressure appears erratic, varying from one arm to the other and changing even when he is at rest. While I may not be articulating this perfectly, I know that at least one physician has paid considerable attention to this issue. There are numerous other symptoms, but these are the primary concerns that stand out. **Medical Investigations Undertaken:** He has undergone a multitude of tests, particularly focused on his lung health. Annual imaging has shown no abnormalities, and his heart has been evaluated regularly with no findings. Neurological assessments related to his leg function have been performed, along with testing for diabetes, genetic disorders, and COPD, all yielding inconclusive results. However, one area absent from comprehensive evaluation is imaging of the head and spine—a request I have persistently advocated for without any feedback from the medical team. **Additional Information About My Father:** My father is a 61-year-old Swede who struggles with obesity, has a history as a former smoker, and has been exposed to various substances like paint thinners and mineral turpentine during his childhood, with his father being a painter. He does not consume alcohol and there is a history of dementia and Alzheimer’s in the family, primarily among heavy drinkers. His mother spent time in a gulag, where most family members perished, leaving little to no medical history context. Though he has long dealt with headaches, these are not new concerns. There is a multitude of details that I have not included, and while I don’t have an exhaustive list of his current medications (most of which relate to blood pressure), I am willing to search for more specific information if needed. I apologize if this message seems chaotic and disorganized; the pain of witnessing my father's decline is truly overwhelming. I want to emphasize that none of these issues were present before that fateful morning when I first discovered him in distress. Prior to that incident, he maintained a physically active lifestyle with a job that required him to walk approximately 15,000 to 20,000 steps daily. He was relatively fit apart from a moderate abdominal size, and then everything shifted drastically in an instant—his ability to walk, the emergence of tremors, and his overall health have all suffered remarkably since then.

Answers (1)

8/1/2025, 12:21:06 PM

OpenHealth AI

I'm truly sorry to hear about your father's ongoing struggles with this complex and debilitating illness. It's understandable that you feel overwhelmed by the situation, and it's commendable that you’re seeking help for him. While it can be daunting when the medical community hasn’t yet found answers, there may still be some actionable steps you can take to help guide his care.

Summary of Key Points:

1. Your father has had a significant decline in health over six years, with various unresponsive symptoms and no definitive diagnosis.
2. Previous evaluations primarily focused on the heart and lung health, while neurological symptoms and imaging of the head and spine were not thoroughly investigated.
3. There are potential environmental and genetic factors to consider that might contribute to his condition.

Explanation:

Your father's symptoms suggest a complex interplay of muscular, neurological, and perhaps systemic health issues. Conditions like muscular dystrophy, tremors, and respiratory struggles can result from a variety of causes, including genetic disorders, autoimmune diseases, exposure to toxins, or even a primary neurological condition. Each of these factors can impact his balance, mobility, and overall well-being.

The history of exposure to substances such as paint thinners may point towards possible toxin-related issues, while the family's history of neurological disorders like dementia could also be relevant. The fact that his symptoms arose suddenly after a distressing event is significant and worth further investigation.

Next Steps:

1. Advocate for Imaging of the Head and Spine: Given your father’s neurological symptoms and lack of response in nerve function, it’s crucial to request comprehensive imaging of both the head and spine. This can help identify any underlying structural issues or abnormalities that may be contributing to his symptoms.

2. Consult a Neurologist Specialized in Rare Diseases: If you haven’t already, seeking a second opinion from a neurologist who specializes in complex neurological disorders or rare diseases may uncover new perspectives or potential diagnoses.

3. Keep a Detailed Symptom Diary: Documenting daily symptoms, triggers, and changes over time will aid healthcare providers in identifying patterns, which may assist in diagnosis and management.

4. Consider a Multidisciplinary Team Approach: Collaborate with a team that includes a general practitioner, neurologist, pulmonologist, and possibly a geneticist to discuss the combination of symptoms and explore comprehensive genetic testing or other specific evaluations based on the context provided.

5. Evaluate Medications: Since your father is on multiple medications, investigating potential interactions or side effects that may exacerbate his symptoms is essential. You might consider reviewing his medications with a pharmacist or a physician to ensure optimal management.

6. Supportive Care and Rehabilitation: Ensuring your father is receiving rehabilitation support, such as physical therapy, can help improve mobility, strength, and quality of life. These therapies may also provide strategies to manage symptoms and enhance independence.

Final Thoughts:

Navigating a situation like this is challenging, and it’s important to keep your father’s comfort and well-being as priorities. Continue advocating for comprehensive evaluations and treatments that address the entirety of his symptoms. You’re doing a great job by reaching out for further assistance, and I hope these steps provide a clearer path forward. If you have any other questions or need further assistance, please don't hesitate to ask.