Story about Birt-Hogg-Dubé syndrome .

Why are my Lungs collapsing?

Feb 6, 2016


I had a flawless complexion as a teenager with exception of one large flesh colored mole on my nose. At age 30 I was diagnoised with Rosacea (adult acne). DID NOT MAKE SENSE TO ME. At 36 years old had 1st Lung collapse. Diagnoised with Lung cysts and interstitial Lung disease. ALSO MADE NO SENSE TO ME. At 38 years old 2nd lung collapse. Pleuedesis and Thoracotomy were preformed.  At 5O years of age diagnoised thru routine abdominal CAT scan for another issue found  Kidney cyst/tumors. About same time I was being worked up for various other health issues and went to dermatologist who did biopsy on my bumps on my face. Came back positive for angiofibroma. I did research on differential diagnosis...Birt Hogg Dube was 1 of 5 things listed as a possibility . When I researched it I found out that I had 4 main criteria I went to Dr with this information  (Lung cysts, Lung collapse, facial lesions, kidney cysts).I was tested and came back positive. But also positive for a never reported variant of the gene mutation. I contacted the nih (National heath Institute) and went to their ongoing genetic research clinic for Birt Hogg Dube.I also have had ovarian cysts/tumors, Colon polyps and nasal polyps, a benign breast lump, Thyroid nodules bilateral, bladder issues (interstitial cystitis) and eye pigmentation...(Parathyroid issues and parotid issues are being investigated at this time). Also have had ear and sinus problems since a child ongoing into adulthood By telling you these things it is actually to encourage you...Because despite as this I live a relatively active life...There are a few of us that are the exception to the rule and have alot going on. But the majority of those with bhd may only have 1 or 2 symptomsof the syndrome that may never cause any issues. So live life and be happy. BECOME INFORMED and OVERCOME your fear of the unknown .

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