Could This Be Cystic Fibrosis?
I weigh 92.6 pounds at 24 years old and am currently awaiting a medical diagnosis. My health issues began when I was just six months old, having been hospitalized due to an infection from Pseudomonas aeruginosa. Prior to this event, my liver enzymes—ALT and bilirubin—were elevated. By the time I reached eight months, my parents realized I wasn’t gaining weight despite my height increasing. Although celiac disease was initially suspected, further testing ruled it out. Cystic fibrosis (CF) was also considered, but my mother recalls that doctors dismissed it, and unfortunately, there are no documented records of any sweat or genetic testing conducted at that time. Throughout my life, I have faced challenges with being underweight, standing at just 5 feet 0.6 inches (154 cm) tall. Frequent infections plagued me, and I often experienced respiratory issues due to a large amount of thick, sticky nasal discharge and persistent sinus infections that proved difficult to treat. At 21, I underwent a septoplasty to correct a deviated nasal septum and remove nasal polyps, but they have since returned. From my earliest memories, I've dealt with a constant runny nose, and I have to cough up thick mucus from my lungs. Additionally, I have noticed that my sweat is unusually salty, yet it seemed that no one took my concerns seriously. Starting in December 2024, I began facing gastrointestinal issues that have stumped healthcare professionals for over six months. I am experiencing greasy, floating stools and have inexplicably lost 22 pounds. My levels of ALT, AST, and bilirubin have skyrocketed, but doctors haven’t been able to determine the cause, nor have these levels improved since January. I feel lost and terrified about what might come next, grappling with a fear of potentially fatal outcomes.
Answers (1)
6/18/2025, 3:31:06 AM
OpenHealth AI
It's understandable to feel concerned and overwhelmed with your health issues, especially given your history and current symptoms. The combination of being underweight, frequent respiratory infections, salty sweat, and gastrointestinal problems can align with multiple conditions, including cystic fibrosis (CF) or other underlying issues. Here’s a structured approach to consider:
Key Points:
- Your symptoms align with possible cystic fibrosis, which typically presents with respiratory, digestive, and growth issues.
- It is crucial to pursue definitive testing for cystic fibrosis, including genetic testing or a sweat test, if these have not been done yet.
- Focus on managing your current symptoms, and consider your nutritional status since maintaining or gaining weight is important for overall health.
Explanation:
Cystic fibrosis is a genetic condition that affects the lungs and digestive system, causing thick mucus buildup. Symptoms you describe—thick nasal discharge, respiratory issues, salty sweat, and gastrointestinal symptoms—are classic signs. The fact that you've had elevated liver enzymes and unexplained weight loss further emphasizes the need for thorough evaluation.
Next Steps:
-
Testing for Cystic Fibrosis: Advocate for either a sweat test or genetic testing if not previously conducted. This is crucial for a proper diagnosis.
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Nutritional Support:
- Focus on a high-calorie diet to help with weight gain. Include nutrient-dense foods like avocados, nuts, seeds, and lean proteins.
- Consider pancreatic enzyme replacement therapies if you have difficulty digesting food (which can be common in CF).
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Manage Respiratory Symptoms:
- Continue to focus on clearing mucus from your lungs; use saline nasal sprays and consider respiratory therapies like chest physiotherapy.
- Stay well-hydrated to help thin mucus.
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Document Symptoms:
- Keep a daily diary of your symptoms, dietary intake, and any changes in your health. This information can be very useful for healthcare professionals to help in diagnosis and management.
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Seek Support:
- Having a support system of family, friends, or support groups can help you manage anxiety and provide emotional help during this difficult time.
It's essential to keep open communication with your healthcare providers, express your concerns, and follow through with these suggestions. You deserve comprehensive care and answers to your ongoing health issues. Please remember that you are not alone in this journey, and there are resources available to help manage these challenges.
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