Discussions By Condition: I cannot get a diagnosis.

Probably hopeless

Posted In: I cannot get a diagnosis. 0 Replies
  • Posted By: raredisease
  • October 18, 2011
  • 06:46 AM

My story began in 2007 shortly after finishing a 6 month treatment of Accutane at the maximum dosage when I began experiencing endless diarrhea, drenching night sweats, anal fissures, and my normally microcytic anemia due to my pre-existing beta thalassemia minor switching to a megaloblastic anemia.

My physician suspected Crohn’s disease. My Prometheus serology 7 came back positive for Crohn’s disease and a TC 99m white blood cell nuclear scan showed accumulation throughout the intestinal tract. My EGD and colonoscopy only showed esophagitis with mild infiltration by eosinophils with the rest being normal though they did remark my “lining was very thin”. They blamed the esophagitis on acid-reflux though I have never felt heartburn and treated me with Prevacid for that and Entocort and Pentasa for “possible Crohn’s”. The CT only showed “minimal mucosal enhancement of the small intestine” and a capsule endoscopy was noted for “extremely rapid transit”.

Fast forward to 2010 and the drenching night sweats took on a whole new category of severe. Literally waking several times throughout the night soaked, staining the mattress and my pillows yellow, and sometimes being disoriented and not knowing where I am. Fed up I went back to my physician.

CT this time showed enlarged liver and spleen. Liver biopsy showed fat though I am skinny and iron deposits. And they said the spleen was probably due to my beta thalassemia minor. Pulmonary function testing showed low DLCO possibly due to pre-existing alpha 1 antitrypsin deficiency. Blood tests showed elevated liver enzymes, worsening anemia (was always around 13.5 which is low end for a male but now almost always around 11), high iron, low white blood cells count with high lymphocytes. Stress echo showed mild mitral valve regurgitation and prolapse and tricuspid showed trace regurgitation.

Now in 2011 even though I am 6 feet tall I have dropped from a weight of 190 lbs to 130. I suffer extreme nausea and severe constipation most of the time and even had an experience where a sandwich I ate the former day was thrown up completely undigested almost 24 hours later the next day. Gastric emptying scan now shows greatly delayed gastric emptying.

I have begun having episodes of rigid paralysis requiring potassium pumps at the hospital due to severe hypokalemia. They usually start with a numb tingling at various parts of my body and muscles spasms. Sometimes taste disturbances and warmth feelings. The spasms are most frequent around my eyes and mouth. The most recent episode put almost my entire body into a rigid paralysis, I couldn’t move my arms, neck, mouth, and it started shutting down my breathing. That episode also showed hyponatremia. They think it might be hypokalemic periodic paralysis though none of my relatives have ever had that and no tests really exists to prove it and it is VERY rare. Brain CT showed abnormally enlarged dural sinuses.

My lymphocytes have now started becoming mutated with +3 atypical lymphocytes. A bone marrow biopsy showed nonparatrabecular lymphoid aggregate space occupying lesions and flow cytometry showed CD38. The hematologist said I shouldn’t be concerned though.

Now just in the past few weeks they have found punctuate calcification in left kidney, nodules throughout both sides of my lungs, and small pleural and pericardial effusions. My urine at times has blood, protein, mucus, and amorphous crystals. A cystoscopy only showed neurogenic bladder. I now urinate frequently and sometimes dribble uncontrollably after finishing. My DLCO has declined to 60% and I am only 24. I don’t smoke or drink. They just did a V.A.T.S. to obtain biopsies from my right lung. I am just awaiting the results now from that. The surgeon said that I was filled with countless nodules and my lung lining was extremely thick.

In essence they have definitively pinned beta thalassemia minor, alpha 1 antitrypsin deficiency PiMZ, esophagitis, and delayed gastric emptying on me. And possible Crohn’s Disease and hypokalemic periodic paralysis. Anybody have any idea on what could be causing my night sweats, periodic paralysis, neurogenic bladder, hypokalemia, and lung issues though? Any thoughts would be appreciated. I know my medical issues are pretty difficult and enormously rare to have all of these genetic defects in the same individual. I really don’t expect to live forever…. Also thyroid normal and testosterone low end of normal.

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