Undiagnosed Symptoms Community
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Avatar universal


For the past three years i have been plagued with an illness that has practically incapacitated me.  I have been to 16 doctors now and have yet to find a solid diagnosis, had a thousand and one blood tests and up until a week ago barely any lab findings.

I'm a 21 year old male, caucasian, with native american and european descent.  My father's side has a history of arthritis and scoliosis, but no other medical conditions i'm aware of.  my mother's side has a history of heart disease, breast cancer, and kidney stones.

My story starts 3 years ago in my very first week of college, i had just turned 18.  around this time i was a picture of health, played sports, went out with friends had decent grades things were great.  but every time i went to the bathroom the first 3 seconds or so would be this thick, white cloudy substance.  it didnt smell it wasnt an infection and i was not sexually active prior to this. it didnt really bother me so i thought nothing of it.  several months later all of a sudden i woke up one day and my jaw had been completely locked close.  i had to pry it open just to eat.  it gradually locked more frequently until eventually it stayed locked (i see a TMJ specialist for this) a few months after this i had a freak accident where my shoulder completely dislocated doing a very minor activity, this was 1/1/06.  since then my shoulder has refused to heal properly and required surgery.  i woke up one day with my right shoulder hurting me with almost the exact same tears except this time with no injury.  a few months afterwords on 3/3/06 i had an abrupt.. life altering new symptom.  i woke up this day completely fine, got ready headed out to class, but half way to my class a sudden, abrupt, and terrifying feeling swept over me.  the only way to discribe it is the sick feeling you get when you're completely depressed, like someone died, or girlfriend broke up with you.  except this was a thousand times more intense than anything i'd ever experienced, and nothing had happened.  it went away after about 10 seconds.  and ten minutes later it hit me again and this time it never went away.  my life completely changed that day, my personality, mood, behavior, thinking, everything changed.  i'm still having cloudy urine daily by the way.  i finally went to the doctor and after a long time an MRI of the brain revealed Dandy-Walker Variant.  i had surgery on 4/9/07 to place a shunt for the hydrocephalus.  this shunt has had no effect on any of my symptoms however.  i saw a urologist soon after and he noticed that my urine consistintly changes between Cloudy, normal, dark red (NO blood), dark brown, orangeish? and clear .  i have gradually developed GI problems including extreme constipation (i had to go to the emergency room, and i'm pretty sure i tore a muscle from straining so hard) extreme gas pains, and migrating pains in my abdomen, typically lower right area where my cecum would be, upper right area just below or inside my rib cage.  some muscle there frequently gets tight and i cant breathe.  my muscles have begun to twitch and tremor, especially recently, typically i'll have spasms throughout the day, maybe 5 minutes apart (especially my eye lid).  my ligaments in my legs feel extremely tight and i have been diagnosed with iliotibial band syndrome on both legs, and snapping hip.  my hands have gradually turned pale white, with the fingertips and knuckles a DARK brown.  my fingernails recently have turned purple almost blue (regardless of temperature).  

The only abnormalities in my lab tests so far are:
consistently borderline high Calcium
elevated Iron
24 hour urine of Oxalic Acid was 49
MRI: Dandy-Walker Variant / Hydrocephalus
my heartrate is typically very fast, around 100 even at rest, blood pressure has gone up slightly as well
also cloudy/dark urine has become intermittent, and i see no correlation with diet

i was not on any medications when the symptoms began.
i'm currently taking Pristiq to manage depression and started taking multivitamins daily last month

any ideas are greatly appreciated.
6 Responses
Avatar universal
also, i previous lab tests showed extremely low HDL levels, but its possible thats just from practically being bed ridden for so long.

i've also had a few instances of having hot flashes
351246 tn?1379685732

Thanks for the post! How are you now?
Variants of Dandy Walker’s Syndrome are associated with other genetic syndromes and diseases. Most common is abnormally functioning cilia which are present everywhere in the body like in nostrils, digestive system, urinary system etc. The co-existence of other genetic disorders results in these multi organ or multi system symptoms.

“Until recently, the medical literature did not indicate a connection among many genetic disorders, both genetic syndromes and genetic diseases, that are now being found to be related. As a result of new genetic research, some of these are, in fact, highly related in their root cause despite the widely-varying set of medical symptoms that are clinically visible in the disorders. Dandy-Walker syndrome is one such disease, part of an emerging class of diseases called cilopathies. The underlying cause may be a dysfunctional molecular mechanism in the primary cilia structures of the cell, organelles which are present in many cellular types throughout the human body. The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases. Known ciliopathies include primary ciliary dyskinesia, Bardet-Biedl syndrome, polycystic kidney and liver disease, nephronophthisis, Alstrom syndrome, Meckel-Gruber syndrome and some forms of retinal degeneration.”

You need to consult a Genetic Disease specialist or a senior MD experienced in genetic disorders. Yes, HDL can go down due to inactivity but it can also go down due to a heart or liver problem. This generally has a genetic connection--having low HDL. It is difficult to comment beyond this at this stage. Please let me know if there is any thing else and do keep me posted. Take care!

Refer: http://en.wikipedia.org/wiki/Dandy-Walker_syndrome

Avatar universal
right now, i'm not well at all.  i'm completely lethargic  and have trouble doing the most basic daily activities, my fingers are really starting to alarm me, and are getting tender to the touch (not swollen however), and at the moment my urine has been normal for the past week. and the rest of the symptoms are unchanged. i will be sure to ask my doctor about seeing a genetic specialist.

i've been speaking to many people trying to get their opinions, and i thank you very much for getting back to me so quickly.

is there any information in particular that you would need to comment further?

thank you soo much
Avatar universal
hey there! it ***** that your going through all this stuff. thats hard to deal with. i want to give you some encouragement to never give up until you find out whats wrong and how to deal with it. you should see a genetic specialist. there can be a problem with your kidneys and liver possibly. medical bills, treatments, medication are all a financial burden. don't let doctors say some of it is anxiety and depression. whats going on with you would depress anyone of course. dont give up. keep talking to people and one day maybe sooner than later you will find your answer.
Avatar universal
thank you sally, yeah at first they kept saying its depression and wanted to send me to a psychiatrist.. i eventually obliged but it didnt help.  the very nature of the onset of it, was not normal at all.  and refused to accept that as my "diagnosis" and have left every doctor that told me such.  so dont worry, i'm not :)

i do hope to find answer soon.. it's maddening not having one..
Avatar universal
tests are back with a confirmed diagnosis :)

after 3 years...  Hereditary Coproporphyria

:) :) :) :) :) :) :) :) :) :) :)
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