Discussions By Condition: I cannot get a diagnosis.

Mystery Diagnosis....No docs can figure it out!

Posted In: I cannot get a diagnosis. 10 Replies
  • Posted By: hollypots
  • January 28, 2011
  • 00:45 AM

Been to several diff docs/specialists and none of them can find an answer to my moms illness. Not even a dx code can be given for her to file disablilty!
62 yr old female smoker x40 yrs has one to two drinks per night, was a little more when she was healthy. Hx of uterine cancer x37 yrs ago, slight hypertension, basal cell carcinoma removed from nose x5-6 yrs ago. Family Hx: father died from heart failure. Mother died from pancreatic cancer. Brother died from colon cancer. Great maternal g-ma died from stomach cancer.
Started noticing vertigo x6months ago. Following sx's started x3 months ago with problems remembering things. A few weeks later, vision problems in RIGHT eye (blurriness). A few weeks later, supposed LEFT ear infection, tx'd with prednisone. One week later, deaf in the LEFT ear. A few weeks later, problems with LEFT eye started occuring (seeing more than two or three of the same image), she was covering her right eye just to see somewhat normally out of the left eye. A few weeks later, the LEFT side of her face was numb. A week or week 1/2 went by, the LEFT side of her face was paralyzed. LEFT eye is now paralyzed in the the corner of her eye socket toward her nose. This week, trouble swallowing. Neuro ophthamologist says her vision was pretty normal, but this was before her eye and face were paralyzed. 4 MRI's were normal. Lumbar puncture was normal. CAT scan of head, chest, abdomen and pelvis were normal. Labs showed elevated B12 (925), hematocrit (49.9), hemoglobin (16.3) and CO2 (33) were slightly elevated as well. ALT was low (6), Osmolality was low (277), Lymphs were low (15.6), Grans were high (76.9), MCV was high (110.6), MCH was high (36.1), and ANA was negative. ESR (2), protein electrophoresis, TSH, Lymes, CA125, CEA, Lead, Mercury were normal. Red blood cells grossly enlarged. No alcohol was found in her blood.
So!! Anyone have any ideas?? I've been doing so much research, talking to all of her doc's and no one seems to have a clue as to what this illness/disease is. Please help! This is my mom and I'm getting very scared!! :confused:

Reply Flag this Discussion

10 Replies:

  • I am sorry that she is going through this. She has a very dedicated daughter it sounds to me. I know you are scared - let's try to figure this out. First, it seems like she has had a very good work up to date. Did they check a folic acid level as well? She has a macrocyctosis which you already know - not the cause of all of these signs & symptoms. They are obviously chasing MS (multiple sclerosis) thus far the tests are negative - including the spinal tap. Out of the 4 MRI's...did they do an MRA (magnetic resonance Arteriogram - especially of the brain stem?) There are some lesion and ischemic events that can cause some of these signs & symptoms: Millard-Gubler Syndrome or Wallenberg Medullary Syndrome. Please keep me informed.
    Anonymous 42789 Replies
    • January 29, 2011
    • 06:35 AM
    • 0
    Flag this Response
  • Red blood cells grossly enlarged Hello, The above statement is a sign of B12 deficiency. I see her level was in the 900's. Does she take a B12 supplement? A multi vitamin? If so this would not give a true reading on blood serum. Please look at this link. Read the info there. It also gives other tests to have to confirm. http://forums.wrongdiagnosis.com/showthread.php?t=62327Check out all the basics and the list of symptoms. You will be amazed at how much b12 covers.If you have any other questions please ask or go to this thread on this site to ask. "B12 deficiency commonly misdiagnosed" I have this condition, and it starts with one symptom and others are added if not treated. I was sick from head to toe. Good luck
    cyndyd 458 Replies
    • January 31, 2011
    • 05:43 AM
    • 0
    Flag this Response
  • Here is some other info. http://i.ehow.com/images/a04/qn/t6/causes-macrocytic-anemia-200X200.jpg What Are the Causes of Macrocytic Anemia?Macrocytic red blood cells. Adapted from image by Ed Uthman, Creative Commons 2.0Macrocytic anemia refers to the presence of enlarged red blood cells (RBCs) in a lab sample. This finding is often the only sign that a patient is experiencing a deficiency of B12 or folate, two important nutrients for the health of the nervous system. Macrocytic anemia is defined as a Mean Cell Volume greater than 95 cubic millimeters (each lab sets its own range, so this number may vary).Causeshttp://i.ehow.com/images/a04/qn/t6/causes-macrocytic-anemia-1.1-120X120.jpg Normal red blood cells. National Institutes of Health, public domain.Macrocytic anemia is a sign that the RBCs are not maturing properly. These cells lose their nucleus and decrease in size during the normal growth process. The normal RBC is shaped like a biconcave disc. Without the necessary nutrients, cells will not attain this shape. The most common cause of macrocytic anemia is a lack of Vitamin B12 or folate (another B vitamin). The condition can also be a side effect of chemotherapy drugs, and is a common consequence of heavy alcohol use.B12 Deficiencyhttp://i.ehow.com/images/a04/qn/t6/causes-macrocytic-anemia-2.1-120X120.jpg Eggs are a good source of B12. Photo by Joao Estevao Andrade de Freitas, public domain.Vitamin B12 is present in meat and animal foods. The vitamin is absorbed in the small intestine with the help of intrinsic factor, produced in the stomach lining. Deficiency occurs for two main reasons--lack of B12 in the diet and problems with absorbing B12.There are other considerations to note when it comes to B12 deficiency. Diets without animal protein do not provide adequate amounts of B12. Vegans are at risk for macrocytic anemia, and should consider taking B12 supplements. Also, if intrinsic factor is not present, Vitamin B12 cannot be absorbed. This condition is known as pernicious anemia, and is treated with B12 injections. Finally, alcohol interferes with the absorption of B12, and chronic heavy drinkers are at increased risk for macrocytic anemia.Folate Deficiencyhttp://i.ehow.com/images/a04/qn/t6/causes-macrocytic-anemia-3.1-120X120.jpg Good sources of folates. Photo by Arnaud 25, public domain.Folate is abundant in green leafy vegetables, liver and mushrooms. Food must be cooked to make folate available, but too much cooking destroys this vitamin. Absorption of folate takes place in the small intestine. Deficiency occurs for four main reasons--lack of folate in the diet, problems absorbing folate, difficulty utilizing the vitamin and increased requirement.Also, diets without fresh, gently cooked leafy vegetables do not provide enough folate. Patients with celiac disease have trouble absorbing folate because this disease damages the cells where absorption takes place. It is also important to note that several drugs interfere with absorption, including birth control pills. Several chemotherapy drugs, including methotrexate, interfere with the body's use of folate. This prevents cancer cells from building DNA, and has the same effect on many of the body's cells, including RBCs and the cells of the digestive tract. Alcohol also interferes with the use of folate. Finally, pregnant and breastfeeding women have an increased need for folate, because it is necessary to the formation of the spine and nervous system of the growing baby.ConsequencesMacrocytic anemia is an early sign of B12 and/or folate deficiency. B12 is necessary to the health of the nerves. Long-term deficiency can cause numbness and tingling in the fingers and toes. Over time, these symptoms will progress upwards, in a pattern known as "glove and stocking" distribution. Paranoia and confusion can occur in very advanced cases. Macrocytic anemia is often the first sign of B12 deficiency, appearing before the patient experiences nerve symptoms.Read more: What Are the Causes of Macrocytic Anemia? | eHow.com http://www.ehow.com/about_5070758_causes-macrocytic-anemia.html#ixzz1Cacmrr7u One other point I want to make is that if your mother has not taken any supplements with B12 in them. A high B12 level without supplements means something may be wrong with the liver.
    cyndyd 458 Replies
    • January 31, 2011
    • 05:59 AM
    • 0
    Flag this Response
  • thanks cynd....but her b12 is elevated not, defficient. and no, no extra vitamins. would this still make sense to you? i just dont know what else to look for! :(
    hollypots 3 Replies
    • January 31, 2011
    • 00:44 PM
    • 0
    Flag this Response
  • Holly, Does your mom take any vitamins at all?
    cyndyd 458 Replies
    • February 1, 2011
    • 01:10 AM
    • 0
    Flag this Response
  • If your Mom does not take any vitamins, than this you should read. http://www.gpnotebook.co.uk/images/trans.gifLevels of serum vitamin B12 may be raised in:chronic granulocytic leukaemiaacute myeloblastic leukaemiaacute promyelocytic leukaemia > 1600 ng/lmyelosclerosischronic lymphatic leukaemiacarcinomatosisliver disease:acute hepatitiscirrhosischronic liver diseasehepatic comapolycythaemia rubra veranon-leukaemic leucocytosisNOT increased in Hodgkin's lymphoma or myeloma. Links:chronic granulocytic leukaemiaacute myeloid leukaemiamyelosclerosischronic lymphocytic leukaemiahepatitisThe Trigeminal nerve is the major nerve in the face. I had many neuro problems with the B12 deficiency. This Trigeminal nerve had a lot to do with this. Your Moms face and eye problems sould like this nerve may be involved. The other thing I thought is that the infection in her ear may have been so bad that it caused the face and eye problems too. B12 and vertigo go hand in hand, but ear problems also have to do with vertigo. Keep digging, and get back to me.cirrhosis of the liverpolycythaemia rubra vera (PRV)vitamin B12
    cyndyd 458 Replies
    • February 1, 2011
    • 01:35 AM
    • 0
    Flag this Response
  • Been to several diff docs/specialists and none of them can find an answer to my moms illness. Not even a dx code can be given for her to file disablilty! 62 yr old female smoker x40 yrs has one to two drinks per night, was a little more when she was healthy. Hx of uterine cancer x37 yrs ago, slight hypertension, basal cell carcinoma removed from nose x5-6 yrs ago. Family Hx: father died from heart failure. Mother died from pancreatic cancer. Brother died from colon cancer. Great maternal g-ma died from stomach cancer. Started noticing vertigo x6months ago. Following sx's started x3 months ago with problems remembering things. A few weeks later, vision problems in RIGHT eye (blurriness). A few weeks later, supposed LEFT ear infection, tx'd with prednisone. One week later, deaf in the LEFT ear. A few weeks later, problems with LEFT eye started occuring (seeing more than two or three of the same image), she was covering her right eye just to see somewhat normally out of the left eye. A few weeks later, the LEFT side of her face was numb. A week or week 1/2 went by, the LEFT side of her face was paralyzed. LEFT eye is now paralyzed in the the corner of her eye socket toward her nose. This week, trouble swallowing. Neuro ophthamologist says her vision was pretty normal, but this was before her eye and face were paralyzed. 4 MRI's were normal. Lumbar puncture was normal. CAT scan of head, chest, abdomen and pelvis were normal. Labs showed elevated B12 (925), hematocrit (49.9), hemoglobin (16.3) and CO2 (33) were slightly elevated as well. ALT was low (6), Osmolality was low (277), Lymphs were low (15.6), Grans were high (76.9), MCV was high (110.6), MCH was high (36.1), and ANA was negative. ESR (2), protein electrophoresis, TSH, Lymes, CA125, CEA, Lead, Mercury were normal. Red blood cells grossly enlarged. No alcohol was found in her blood.So!! Anyone have any ideas?? I've been doing so much research, talking to all of her doc's and no one seems to have a clue as to what this illness/disease is. Please help! This is my mom and I'm getting very scared!! :confused: Are they sure she hasn't had a stroke? http://www.wrongdiagnosis.com/s/stroke/symptoms.htm Also, look into Fisher (M.) syndromehttp://www.wrongdiagnosis.com/f/fisher_m_syndrome/symptoms.htm
    gr8tful 175 Replies
    • February 1, 2011
    • 09:08 AM
    • 0
    Flag this Response
  • Been to several diff docs/specialists and none of them can find an answer to my moms illness. Not even a dx code can be given for her to file disablilty! 62 yr old female smoker x40 yrs has one to two drinks per night, was a little more when she was healthy. Hx of uterine cancer x37 yrs ago, slight hypertension, basal cell carcinoma removed from nose x5-6 yrs ago. Family Hx: father died from heart failure. Mother died from pancreatic cancer. Brother died from colon cancer. Great maternal g-ma died from stomach cancer. Started noticing vertigo x6months ago. Following sx's started x3 months ago with problems remembering things. A few weeks later, vision problems in RIGHT eye (blurriness). A few weeks later, supposed LEFT ear infection, tx'd with prednisone. One week later, deaf in the LEFT ear. A few weeks later, problems with LEFT eye started occuring (seeing more than two or three of the same image), she was covering her right eye just to see somewhat normally out of the left eye. A few weeks later, the LEFT side of her face was numb. A week or week 1/2 went by, the LEFT side of her face was paralyzed. LEFT eye is now paralyzed in the the corner of her eye socket toward her nose. This week, trouble swallowing. Neuro ophthamologist says her vision was pretty normal, but this was before her eye and face were paralyzed. 4 MRI's were normal. Lumbar puncture was normal. CAT scan of head, chest, abdomen and pelvis were normal. Labs showed elevated B12 (925), hematocrit (49.9), hemoglobin (16.3) and CO2 (33) were slightly elevated as well. ALT was low (6), Osmolality was low (277), Lymphs were low (15.6), Grans were high (76.9), MCV was high (110.6), MCH was high (36.1), and ANA was negative. ESR (2), protein electrophoresis, TSH, Lymes, CA125, CEA, Lead, Mercury were normal. Red blood cells grossly enlarged. No alcohol was found in her blood.So!! Anyone have any ideas?? I've been doing so much research, talking to all of her doc's and no one seems to have a clue as to what this illness/disease is. Please help! This is my mom and I'm getting very scared!! :confused:so this sounds like it could be a few disorders beacuse of her age. i would more concerned for a brain tummor pushing on the facial nerves and inner-ear. some tummors can affect the eyes and sometimes do not show up on Imagining test.hope that helps a little.
    Anonymous 42789 Replies
    • February 2, 2011
    • 08:00 AM
    • 0
    Flag this Response
  • Been to several diff docs/specialists and none of them can find an answer to my moms illness. Not even a dx code can be given for her to file disablilty! 62 yr old female smoker x40 yrs has one to two drinks per night, was a little more when she was healthy. Hx of uterine cancer x37 yrs ago, slight hypertension, basal cell carcinoma removed from nose x5-6 yrs ago. Family Hx: father died from heart failure. Mother died from pancreatic cancer. Brother died from colon cancer. Great maternal g-ma died from stomach cancer. Started noticing vertigo x6months ago. Following sx's started x3 months ago with problems remembering things. A few weeks later, vision problems in RIGHT eye (blurriness). A few weeks later, supposed LEFT ear infection, tx'd with prednisone. One week later, deaf in the LEFT ear. A few weeks later, problems with LEFT eye started occuring (seeing more than two or three of the same image), she was covering her right eye just to see somewhat normally out of the left eye. A few weeks later, the LEFT side of her face was numb. A week or week 1/2 went by, the LEFT side of her face was paralyzed. LEFT eye is now paralyzed in the the corner of her eye socket toward her nose. This week, trouble swallowing. Neuro ophthamologist says her vision was pretty normal, but this was before her eye and face were paralyzed. 4 MRI's were normal. Lumbar puncture was normal. CAT scan of head, chest, abdomen and pelvis were normal. Labs showed elevated B12 (925), hematocrit (49.9), hemoglobin (16.3) and CO2 (33) were slightly elevated as well. ALT was low (6), Osmolality was low (277), Lymphs were low (15.6), Grans were high (76.9), MCV was high (110.6), MCH was high (36.1), and ANA was negative. ESR (2), protein electrophoresis, TSH, Lymes, CA125, CEA, Lead, Mercury were normal. Red blood cells grossly enlarged. No alcohol was found in her blood.So!! Anyone have any ideas?? I've been doing so much research, talking to all of her doc's and no one seems to have a clue as to what this illness/disease is. Please help! This is my mom and I'm getting very scared!! :confused:I did not see a result for an HLA-B27 test. Has she had one? Do you know her blood type, do you know your blood type? You can google "Rh Negative Autoimmune" and you will find my research.
    thefarrellfam 46 Replies
    • February 26, 2011
    • 06:25 AM
    • 0
    Flag this Response
  • hi everyone interested. thanks for all the input. as of now, we've been or actually my mom has been through ***l! a living nightmare if you will!i was fired from my job b/c of my mother being a patient there. they said it was "a conflict of interests." in my opinion it was merely b/c i had expressed my opinion at one of her appt's. mind you, i was off duty and simply being my mothers advocate about her care and why I was having to do all of the research about her condition. but thats going to be another story and possible law suit!i honestly can't remember where i left you all off at, but we've been to duke hospital twice now. 1st time they did another spinal tap, mri, and cats scans. spinal tap came back showing anti Hu antibodies which is associated with lung cancer. they wanted us to come back the 2nd time, which was last week and did a PET scan and bronchoscopy. i talked to one of the docs and told him to tell me the truth and to be honest with me about what he thought. he said he thought that it was a very progressed lung cancer and more than likely was untreatable. having this thought already in mind was one thing, but hearing it was another! PET scan showed "spots" in lungs and in the brain. while doing the bronch, they found a lot of blackish brown yuck in her throat and cleaned it out somewhat and sent it out for pathology, also took biopsies while doing the bronchoscopy. we came back home a few days later, still with no clear answers. gotta call that the biopsies came back "inconclusive." now want us to come back and go through her chest, into her lungs and get a more definitive biopsy. while going through all of this, her weight has dropped to 96# (from 120# in October), not able to eat solid foods b/c its too hard to swallow, not able to walk w/o help and support, can barely see anything clearly and the left side of her face is totally paralyzed. she almost choked yesterday trying to take a multi vitamin that i started her on a few weeks ago and i had to do the heimlich maneuver on her!!i set up a home health service for her and the initial consult was today. they will be coming 3x times a week now. getting bills, wills, and deals taken care of, going to school, working part time now, trying to raise my children and do all of their stuff, cooking, cleaning, having a home and family of my own and i quit smoking two weeks ago.....its all just too much for one person, but i'm doing the best i can!anyway...with all of the research i've done, the primary doc has agreed to give her the diagnosis of carcinomateous meningitis and paraneoplastic syndrome, even though there clearly is no certain one to go on. i had to demand a diagnosis be given b/c disablilty denied her b/c the docs couldn't give her one! its been a total nightmare and one ***l of a ride!! we still have no definite answers and still no disability income for her! but...i guess it could always be worse right?? ha!
    hollypots 3 Replies Flag this Response
Thanks! A moderator will review your post and it will be live within the next 24 hours.