Avatar universal

Undiagnosed Illness

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, feels like something i'm eating isnt being broken down, but cant identify it.  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'm currently taking Pristiq to manage depression and multivitamins daily.

any ideas are greatly appreciated.
8 Responses
535822 tn?1443976780
This may sound frivolous considering your history but I do not mean it that way, were you taking any meds continously when this began and continued onwards,? as certainly some of your symptoms can be caused by some medshow about  allergy and diet. Have your doctors no diagnosis at all?is it the Hydrocephalus .
Avatar universal
i was not on any medication when this began.  the only thing i took was one a day multi vitamin (after the first month i stopped taking them but symptoms persisted. i just started taking them again a couple weeks ago).  i was not on any medication at all until a year after the intial symptoms began (at this point in my life i had practically never been sick and my parents had to force me to go see the doctor)

i have been diagnosed with dandy-walker variant and hydrocephalus.  and i had a shunt placed in.  however, it does not appear to have been the cause of any of my symptoms, or there is some complication of it that no one has identified yet.  it appears to just be something i have, it makes no difference.
Avatar universal

I'm so sorry you are having these symptoms. Have they tested you for Hemachromatosis? It is related to excessive iron build-up in your body and can cause skin color changes and joint pain. You have other symptoms that I don't think are usually associated with hemachromatosis, but from your information, it seems several things are going on. I hope you find a complete diagnosis soon and get well.
501740 tn?1266691293
Have they tested you for Addison's disease? I hope you find out soon, and I am sorry you are going through this.
Avatar universal
thank you all for your ideas! i was actually tested for hemachromatosis just last week, i have not yet gotten the results however.  i will be sure to ask him about addison's disease, and he did tell me he does believe it is some sort of endocrine disorder.  if you have more ideas please feel free to share them!
Avatar universal
Can I have more information about your lab results?

Was your Serum phosphate level and Parathyroid hormone blood level high as well?  and how is your blood pressure?
Blood calcium levels may be elevated in may diseases, among them Hyperparathyroidism
Avatar universal
parathyroidism was actually the very first thing i was tested for, my PTH levels are normal, serum phosphate, i dont really remember.  calcium level is typically 10.5, so its not really high, but it seems to be consistantly borderline.

i get more results back tomorrow and i'll be sure to let you know!
Avatar universal

tests came back today positive for:
Type 1 Hemachromatosis
Hereditary Coproporphyria
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