Discussions By Condition: Medical Stories

Genetic Anomaly

Posted In: Medical Stories 0 Replies
  • Posted By: Anonymous
  • November 1, 2008
  • 05:46 AM

i originally wrote a very long entry about my supposed symptomatic diagnosis of blau syndrome. by the end of it, i decided it was unlikely anyone would actually read through all of it. so i'll sum it up. my symptoms don't really match those of blau syndrome, and i need help from someone who really knows their stuff. my symptoms are congenital campdodactyly which has gotten worse with age, more severe toward the pinkies with them being fixed at a 90 degree angle. the contractures are also visible in my elbows, and somewhat in my toes. i have only one finger which will straighten out completely if i manually straighten it. i also have chronic keratitis which was discovered around the age of 17 (i am 23 now). however, that would be the same time that i was regularly tanning in a tanning bed with no protective eyewear... i did so for two summers at least, too many times to count. i do occasionally get heat rashes, mainly in the summer if i have spent several hours in the sun or have exercised to the point of overheating, or after being in the tanning beds. i sometimes experience arthritis like symptoms, although i would classify if as mild to moderate. i never require pain medications to function, it's more of a very sore feeling commonly in my wrists or ankles. as you can see, if you are familiar with blau syndrome that is, my symptoms don't entirely match up with those of blau syndrome. i do not have uveitis, and my skin symptoms are inconsistant with those of blau as well. i was tested for it, but it was inconclusive which doesn't really point in either direction as far as diagnosis goes. i do seem to have a history of high blood pressure as well. no one has really taken it seriously, maybe because i am young and thin (5'6" and 115 lbs), or maybe because they think i have white jacket syndrome. i do get the same results at a wal-mart blood pressure testing machine tho, always either pre-hypertension or hypertension. lately, i have been experiencing some chest pain below/behind the bottom ribs on my left side. it is a shart, localized, sort of stabbing pain that happens when i breathe in deeply. it always goes away when i breathe out, only to return when i breathe in again. it can last for a couple breaths, or a few minutes... and sometimes it happens multiple times a day. it's not crippling, but it is a nuisance when it happens and can be quite uncomfortable. i dont know if i should take it seriously or not. i always have a fear of being viewed as a hypochondriac, since i have so many "problems" with no known reason or cause. some other tidbits about me are that my upper arm and thigh bones are slightly elongated, as well as the first bone in my fingers. i have experienced some stomach issues as well. as long as i can remember, i have experienced random nausea and vomiting. particularly when i was school aged and mainly during the morning hours after waking. it has calmed down since then, but still occurs a few times a year at least. i have recently attributed it to a "nervous stomach." i have been so nausious that i could not eat, but have vomitted food that i consumed 8-12 hours earlier... as if my stomach "shut off." i will stop here, because i don't want to write too much again, and i want to stick to the basics. if you know what you're talking about and think you can help me... then please do just that. i know it's not all in my head because even my geneticist said that i am a genetic anomaly of sorts.

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