I am 34yrs old 6'2 145lbs.I had first spontaneous pneumothorax at 17yrs old then a second one 6 months after the first repair.The patch on the lung,the tissue around the patch gave away(came undone).I have had pain since around 14yrs old.After some years went by the pain turned into chronic pain in the lower back and now have weak limbs and dull pain in them.Alot of pain in the lower back and between the shoulder blades.After doing something strenous,I get head achs.I have been to the ER rooms and they find nothing wrong for the pain.This lead me to try genetic consultation.I went to detroit Henry Ford Genetics and a evaluation regarding possible marfans or Elhers-Danlos.I didn't meet the clinical criteria for marfans or Elhers-Danlos but treat as if.My recorded history goes as:Dennis Bird 34yrs old history of spontaneous pneumothorax at age 17 and 6 months later a second pneumothorax both reportedly surgically repaired.History of mild scoliosis first noted in elementary school.There has been no intervention for scoliosis.history of deteriorating disc of L3-4 but no change in condition.Reports of limb weakness with numbness in the limbs.Long fingers which are hyperextensible,Reduced upper to lower segment ratio,thumb and wrist signs,slight scoliosis,slight pectus excavatum,high-arched palate with crowding of teeth and malar hypoplasia.Moveable "lumps"under his skin left arm and legs bilaterally;the lumps are hard and moveable.Horizontal stretch marks on abdomen,lower back,and buttocks..Reports of easy bruiseing.Atrophic scars cigarette paper-like scaring.History of Pericarditis on two occasions in june and july of 2007 which was accompanied by an episode in which Mr.Bird experienced convulsions and tachycardia for 4-5 hours.Treatment was steroids and anti-inflammatory medication.The cause for the pericarditis was not determined.An EKG (?Date and poor resolution due to copying)showed bradycardia at a regular rate of 50-56/min.Due to concerns of marfans Mr.Bird had an echocardiogram in april of 2007 and was normal.Mr.Bird was rechecked in feb of 2008 and found to have an aortic root dilation of 4.3 and was put on 25mg cozzar and have 6 month follow ups.Family history of aortic dilation and aneurysm 8.5 with aortic replacement in father and brain aneurysm in paternal grandmother.I just got checked by the heart doctor and they have me as stablelized at a dilation of 4.3 and have doubbled the cozzar to 50 mg and another test in 6 months.I got tested from Johns Hopkins DNA Diagnostic laboratory for Loeys-Dietz syndrome and came back normal.What should be next?I have run out of things to do or try.I am looking for new leads for this my health is not getting better and not going away.
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