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Sep 25, 2012 · Evasive Diagnosis, Deteriorating Health and College (Lysosomal Storage) in Just Want to Talk

Hi everyone,
I’m a 21 y/o male in college with serious medical issues arising that are complicating my day-to-day existence. I was diagnosed with narcolepsy, epilepsy and bipolar disorder as a teenager, but now, as a result of newer symptoms, all three diagnoses are in question.

I’ve seen doctor after doctor. I’m negative for autoimmune diseases, infectious diseases, all forms of hepatitis, HIV, herpes, wilson’s disease and more. Most recently, I’ve been making the trek to Yale University School of Medicine to see a doctor there and my next stop is now a neurogeneticist at the Mount Sinai School of Medicine in New York.

Carrier of Gaucher Disease: N370S

Suspect: Lysosomal Storage Disease (Niemann-Pick Disease Type B/Intermediate, Cholesteryl Ester Storage Disease?)

Since April, when neutropenia appeared out of nowhere and for no reason, I’ve been poked and prodded by needle after needle. It’s been six months and symptoms are the following:

Neutropenia
Leukopenia
Thrombocytopenia
Deficient immunoglobulins A and G
Idiopathic Ataxia
Costochondritis
Epilepsy
Narcolepsy
Bipolar disorder
Splenomegaly
Early stage cirrhosis
Small pulmonary nodules
High Band Count w/o infection
Joint/muscle inflammation
Abdominal pain
Intermittent fever
Circumferentially thickened bladder wall
Non-herpatic mouth ulcers

I have no clue what to do. I’ve seen doctor after doctor and we still have no clue what’s wrong with me. My academics, since they take my mind off of my symptoms and it works. I’m in the honors college, take 17 credits worth of intense course work and am on the board of the student government association. However, I limp to class, am stuck with a fever half the time and sleep about 10-13 hours/day on average.

My family is trying to get me to drop my entire semester and fly out to Mayo in Minnesota. It would delay my quest for my Ph.D in clinical psychology by over a year and my current state scares me. How do I get through the ultimatum of all ultimatums: health or academic career?

How in the world do I get through this? The prospect of a lysosomal storage disease is more than enough to frighten my tail off. I’m so frightened to make my next move.