Aa
Introduce yourself here.
Hi everyone you can introduce yourself on this thread.
What brought you here, how long you have been waiting for a diagnosis and a little bit about yourselves.
You can read about me on the top of this page.
3 years and 1 month I have been waiting. Mariax
What brought you here, how long you have been waiting for a diagnosis and a little bit about yourselves.
You can read about me on the top of this page.
3 years and 1 month I have been waiting. Mariax
Hi,
I am a neurology patient. I have been one since September 2004. My symptoms were activated while on active duty. My primary doc consuled with Walter Reed's Neurology Clinic. After the following occurred: I started have spinning sensations which turned out to be vertigo and meniere's disease. I began havin tingly and shooting pain down my legs. I experienced pins and needle sensations when warm or under the covers. The back of my right eye became too painful to bear. Although, this happens at least monthly. Eventually, I was honorably discharged from active duty and sent to the Veteran Affairs Medical Center's neurology clinic. I have been in limboland since March 2005. Since arriving here I have had 19 MRIs. In 2006, two lesion seperation in time was discovered but no action taken. Now I have about12 lesions with three of them having been enhancing for one year. I have been told that it is not quite MS. So, I have been diagnosed so far with any disease that mimicks MS. Two Neurologists have stated my t2 flares are actively enhancing. But, would report my lesions are stable. And, one was going to suggest working up a report for MS. But, did not because I have been up to that point which is 2011, diagnosed with mimicking MS diseases. So, he saids to me MS is a difficult disease to diagnose. And, since then, there has been a reluctance to diagnose me. So, each resident insists on just treating my symptoms. I take baclofen, tizinadine, gabapentin and othrs for spacity and spasms. I take metlizine and direutic for vertigo and meniere's disease. I take steroids for inflammation. I take other meds that compliments those listed. The diagnostic studies done so far are MRIs 19 of them, VEPs 2 of them. Both were abnormal. I have had uveitis and optic neuritis many times over. prednisone liquid was prescribed. I even lost my vision for a week and a half. I have had blood and CSF workups. Now I must stop here because I hands are spacitic and trembling. I will tell you more later. But, this is my intro to everyone here. I hope to learn a lot from this forum.
I am a neurology patient. I have been one since September 2004. My symptoms were activated while on active duty. My primary doc consuled with Walter Reed's Neurology Clinic. After the following occurred: I started have spinning sensations which turned out to be vertigo and meniere's disease. I began havin tingly and shooting pain down my legs. I experienced pins and needle sensations when warm or under the covers. The back of my right eye became too painful to bear. Although, this happens at least monthly. Eventually, I was honorably discharged from active duty and sent to the Veteran Affairs Medical Center's neurology clinic. I have been in limboland since March 2005. Since arriving here I have had 19 MRIs. In 2006, two lesion seperation in time was discovered but no action taken. Now I have about12 lesions with three of them having been enhancing for one year. I have been told that it is not quite MS. So, I have been diagnosed so far with any disease that mimicks MS. Two Neurologists have stated my t2 flares are actively enhancing. But, would report my lesions are stable. And, one was going to suggest working up a report for MS. But, did not because I have been up to that point which is 2011, diagnosed with mimicking MS diseases. So, he saids to me MS is a difficult disease to diagnose. And, since then, there has been a reluctance to diagnose me. So, each resident insists on just treating my symptoms. I take baclofen, tizinadine, gabapentin and othrs for spacity and spasms. I take metlizine and direutic for vertigo and meniere's disease. I take steroids for inflammation. I take other meds that compliments those listed. The diagnostic studies done so far are MRIs 19 of them, VEPs 2 of them. Both were abnormal. I have had uveitis and optic neuritis many times over. prednisone liquid was prescribed. I even lost my vision for a week and a half. I have had blood and CSF workups. Now I must stop here because I hands are spacitic and trembling. I will tell you more later. But, this is my intro to everyone here. I hope to learn a lot from this forum.
Came across this site several weeks ago when my husband was diagnosed with Hereditary Hemochromatosis...HHC for short. This was another kick to the gut as a couple years ago he was diagnosed with Hep C, and at the same time as he was told about the HHC he was told the Hep C is genotype 1a. So, not to be dramatic at all, he has the two most unfavorable diseases that affect the liver, the HHC is genetic and has been storing iron from birth which first goes to liver and heart, and on top of that about 30 years ago they feel based on his medical history, he contracted Hep C, which of course, after such a long period of time is deadly to the liver. So he has Stage 2 periportal fibrosis, gallbladder disease, pancreatic nodules, polyps on colon, joint and muscle pain that leaves him immobilized almost...all from HHC and Hep C. He was found to have the heterozygous mutations C282Y and H63D combination in the HFE gene that controls the amount of iron your body stores. This is phenominally underdiagnosed COMMON genetic disorder and early detection is the KEY, as treatment for it prevents the progression and subsequent damage brought on from iron storage. A person can ALSO be anemic and iron load at the SAME TIME!!! The blood tests are simple, they are NOT part of routine blood tests doc orders, and so it is being missed. Docs are uninformed and have been educated on how to look for certain criteria, and those are so wrong, those criteria/symptoms/presentations they are taught to look for are all END STAGE issues.
If you or anyone you know are being told they have fibromyalgia, osteo arthritis...get this checked out. These arthritic symptoms are first to show up in patients, as is chronic fatigue.
If you have been diagnosed with Hashimoto's or hypothyroidism, or have symptoms of thyroid problems but your tests come out "normal" (TSH level)...get checked for HHC. Iron loads on the pituitary gland.
If you or anyone has been struggling with heart palpitations, enlarged heart, congestive heart failure, or other unexplained heart issues...get checked for HHC. Iron loads on heart second after liver.
If you have diabetes...get checked for HHC. Iron loads on pancreas and causes diabetes.
If you have been told you have cirrhosis of the liver or liver damage, get checked for HHC...even if you do not drink or only occasionally. Docs tell people they are closet alcoholics because of liver damage OR elevated liver enzymes, that cannot be explained by anything else including lifestyle, this is a red flag and should be investigated further for iron overload.
If you have chronic or increased mental fog and confusion, or "dymentia" type symptoms, get checked for iron loading. Iron loads on the brain and causes memory loss, confusion and brain fog.
If you have what docs tell you is IBS, or colitis or other digestive issues, get checked for iron overload. Excess iron is absorbed by the intestine after being released as a free radical, and excess iron transporting through body oxidizes on organs, in joints, and in tissues. The two most common joint replacements are hips in people with HHC.
Your levels should be (optimal...lab reference values will have their version of normal)
Men
Ferritin 70-100 ug/l
Transferrin Saturation (TSAT) less than 50%
There are other tests like AST, ALT, and GGT that will indicate if there is liver damage and will be elevated. But they are not always elevated if early on in diagnosis and liver damage is minimal.
There is also serum iron and TIBC which gives more rounded iron picture for your body.
For Pre-menopausal women
Ferritin 40 -60 ug/l
Tranferrin Saturation 25-35% (anything over this and needs further investigation.)
Docs are hesitant to do further testing when your blood work comes back and everything falls into the normal reference range, but these are only ranges and are often not sensitive enough to pinpoint HHC or iron loading early enough. So you need to be your own advocate and demand more tests if you have any unexplained abnormal symptoms they can't find source. If your doc doesn't want to dig, find another doc. In HHC, patients go through and average of three docs and up to 10 years before getting correct diagnosis, and often this is too late or damage irreversible.
HHC afftects women equally as men, nut men are found sooner due to them not having a period as women do, so women usually don't find out until 60's or later, and men usually in their 40's and 50's.
So for all who need to know, and who are in a state of constant questions/worries/anxiety regarding odd symptoms the doc can't seem to pinpoint, ask for the screening for iron overload. They may be skeptical, they may scoff, they may tell you you are anemic, they may tell you they've checked your iron levels...be persistent or find someone who knows about this disorder. It is a simple treatment plan, and prevents many other common diseases and ailments.
Good health wishes to all, and thanks for being here. I have found many encouraging stories and posts from all of you. I hope this can help someone. I am not a doc, and don't have all the answers, but what I don know now has come from hundreds of hours of research and reading and compiling many experts findings over time.
If you or anyone you know are being told they have fibromyalgia, osteo arthritis...get this checked out. These arthritic symptoms are first to show up in patients, as is chronic fatigue.
If you have been diagnosed with Hashimoto's or hypothyroidism, or have symptoms of thyroid problems but your tests come out "normal" (TSH level)...get checked for HHC. Iron loads on the pituitary gland.
If you or anyone has been struggling with heart palpitations, enlarged heart, congestive heart failure, or other unexplained heart issues...get checked for HHC. Iron loads on heart second after liver.
If you have diabetes...get checked for HHC. Iron loads on pancreas and causes diabetes.
If you have been told you have cirrhosis of the liver or liver damage, get checked for HHC...even if you do not drink or only occasionally. Docs tell people they are closet alcoholics because of liver damage OR elevated liver enzymes, that cannot be explained by anything else including lifestyle, this is a red flag and should be investigated further for iron overload.
If you have chronic or increased mental fog and confusion, or "dymentia" type symptoms, get checked for iron loading. Iron loads on the brain and causes memory loss, confusion and brain fog.
If you have what docs tell you is IBS, or colitis or other digestive issues, get checked for iron overload. Excess iron is absorbed by the intestine after being released as a free radical, and excess iron transporting through body oxidizes on organs, in joints, and in tissues. The two most common joint replacements are hips in people with HHC.
Your levels should be (optimal...lab reference values will have their version of normal)
Men
Ferritin 70-100 ug/l
Transferrin Saturation (TSAT) less than 50%
There are other tests like AST, ALT, and GGT that will indicate if there is liver damage and will be elevated. But they are not always elevated if early on in diagnosis and liver damage is minimal.
There is also serum iron and TIBC which gives more rounded iron picture for your body.
For Pre-menopausal women
Ferritin 40 -60 ug/l
Tranferrin Saturation 25-35% (anything over this and needs further investigation.)
Docs are hesitant to do further testing when your blood work comes back and everything falls into the normal reference range, but these are only ranges and are often not sensitive enough to pinpoint HHC or iron loading early enough. So you need to be your own advocate and demand more tests if you have any unexplained abnormal symptoms they can't find source. If your doc doesn't want to dig, find another doc. In HHC, patients go through and average of three docs and up to 10 years before getting correct diagnosis, and often this is too late or damage irreversible.
HHC afftects women equally as men, nut men are found sooner due to them not having a period as women do, so women usually don't find out until 60's or later, and men usually in their 40's and 50's.
So for all who need to know, and who are in a state of constant questions/worries/anxiety regarding odd symptoms the doc can't seem to pinpoint, ask for the screening for iron overload. They may be skeptical, they may scoff, they may tell you you are anemic, they may tell you they've checked your iron levels...be persistent or find someone who knows about this disorder. It is a simple treatment plan, and prevents many other common diseases and ailments.
Good health wishes to all, and thanks for being here. I have found many encouraging stories and posts from all of you. I hope this can help someone. I am not a doc, and don't have all the answers, but what I don know now has come from hundreds of hours of research and reading and compiling many experts findings over time.
It sounds like it would be worth a try. Sorry I don't have any helpful information to pass along, but I'll be thinking of you and hope that you get answers soon.
In the meantime, I hope you'll post back and let us know how you are and once you get answers, what they were. It may be helpful to someone else who comes here looking for the same answers one day. :)
Wishing you well.
In the meantime, I hope you'll post back and let us know how you are and once you get answers, what they were. It may be helpful to someone else who comes here looking for the same answers one day. :)
Wishing you well.
Thank you, Laura. I did go to Mayo, at the time I had been diagnosed with hypogammaglobulinanemia, and had been on high doses of prednisone for a long period. I saw several specialist, but it was difficult to discern what symptoms I was really having vs. what was steriod induced. In the end, they decided the hypogammaglobuinanemia was steriod induced, provided a better tapering schedule, and sent me out the door. The only other issue they addressed was knee pain-apparently I have avascular necrosis in my right knee, again due to prednisone. So, I stil don't know what is causing my blood clotting levels to be so high, nor what has caused my other symptoms. I may go back to someplace like Mayo if I don't get any where in the next couple months.
I don't have any advice or wisdom to share with you. I can say that I'm terribly sorry to hear of all that you've been through and that you're still without answers. Reading your story, it does sound as if your doctors have eliminated a number of things even if that hasn't so far brought them any answers. I do hope that the answer is not long in coming.
Have you been to a specialist hospital such as johns hopkins or the mayo clinic? The National Health Institute in Washington DC is often interested in solving unsolved medical mysteries. Would it be within acceptable travel distance to give them a call and go to see them?
I'll be thinking of you and hoping that you get answers soon.
Laura
Have you been to a specialist hospital such as johns hopkins or the mayo clinic? The National Health Institute in Washington DC is often interested in solving unsolved medical mysteries. Would it be within acceptable travel distance to give them a call and go to see them?
I'll be thinking of you and hoping that you get answers soon.
Laura
I have an undiagnosed or misdiagnosed condition, for the last 6 years. I am looking for anyone with similar experiences, input, or ideas.
2006 Small left pulmonary embolism treated with coumiden, followed 10 days later by a massive pulmonary embolism with an INR of 4.0. Subsequently I was put on Lovenox due to coumiden failure. Later that year I suffered a miscarriage.
2008 Pregnancy resulting in IUGR baby healthy but born at 3lbs. 15 oz due to placenta clotting between 8th-9th month.
2011 Switched from Lovenox to Pradaxa due to loss of insurance.
Aug 2012 "shower of mini clots to brain" put back on Lovenox.
I was initially diagnosed with Antiphospholipid Antibody Syndrome because of 2 positive Lupus Anticoagulant tests done right after my pulmonary embolisms. That diagnosis has been disputed because many subsequent tests for that have been negative. However, I do have elevated levels of the following from testing done this month.
Factor VIII level was 326% ref range below 150%
Von Willebrand Factor was 295% ref range below 150%
Von Willebrand Activity was 448% ref range below 170%
I have also had a consistently elevated WBC for 6 years ranging from 12,000-20,000 and has gone as high as 40,000 with lung infections.
My Kappa/Lambda ratio in urine was also found to be elevated within the last year. Initially started out as just the ratio, then subsequent testing showed Kappa was elevated as well. It is NOT found in my serum.
Kappa/Lambada ratio 16.84 ref rang 2.04-10.37
Kappa 79.00 ref rang 1.35-24.19
I have a history of recurring severe lung/sinus infections since childhood. I had decreased levels of IgG which resulted in a diagnosis of hypogammaglobulinanemia. That has since been disputed and many doctors now believe it was steroid induced. I also have a history of gastroparesis which comes and goes, and high blood pressure.
My symptoms include Livedo, headaches, vision issues, transient TIA episodes, severe muscle spasms that come and go, musle myalgia's, severe fatigue, discoid plaque like skin lesions (typically confined to lower legs, although have had on upper thighs, breast, and arms), and pain in my hip joints.
I have had 3 bone marrow biopsies, a kidney biopsy, and 3 skin biopsy. My last bone marrow biopsy showed a slight increase in plasma cells 7%, but not enough to diagnose mutiple myeloma. I have been tested for just about every autoimmune disease out there I think. I was scheduled for a VATS lung biopsy because my last CT showed tree-in-bud opacities, but had my mini strokes the week before so it was put on hold. My hematologist has brought up sarcoidosis, but other than that, he has no idea.
I think my worst fear is going through yet another biopsy only to be told "I don't know". The only other disorder I can find that seems to fit is Sneddon's syndrome, but I have not had much look with doctor's here being willing to consider something rare or outside their comfort zone. My hematologist said he had never even heard of it, although he was willing to research it. I am still waiting to hear back.
So any input, info, similar experience, or ideas I would love to hear them. I am ready to get off the medical mystery merri go round.
2006 Small left pulmonary embolism treated with coumiden, followed 10 days later by a massive pulmonary embolism with an INR of 4.0. Subsequently I was put on Lovenox due to coumiden failure. Later that year I suffered a miscarriage.
2008 Pregnancy resulting in IUGR baby healthy but born at 3lbs. 15 oz due to placenta clotting between 8th-9th month.
2011 Switched from Lovenox to Pradaxa due to loss of insurance.
Aug 2012 "shower of mini clots to brain" put back on Lovenox.
I was initially diagnosed with Antiphospholipid Antibody Syndrome because of 2 positive Lupus Anticoagulant tests done right after my pulmonary embolisms. That diagnosis has been disputed because many subsequent tests for that have been negative. However, I do have elevated levels of the following from testing done this month.
Factor VIII level was 326% ref range below 150%
Von Willebrand Factor was 295% ref range below 150%
Von Willebrand Activity was 448% ref range below 170%
I have also had a consistently elevated WBC for 6 years ranging from 12,000-20,000 and has gone as high as 40,000 with lung infections.
My Kappa/Lambda ratio in urine was also found to be elevated within the last year. Initially started out as just the ratio, then subsequent testing showed Kappa was elevated as well. It is NOT found in my serum.
Kappa/Lambada ratio 16.84 ref rang 2.04-10.37
Kappa 79.00 ref rang 1.35-24.19
I have a history of recurring severe lung/sinus infections since childhood. I had decreased levels of IgG which resulted in a diagnosis of hypogammaglobulinanemia. That has since been disputed and many doctors now believe it was steroid induced. I also have a history of gastroparesis which comes and goes, and high blood pressure.
My symptoms include Livedo, headaches, vision issues, transient TIA episodes, severe muscle spasms that come and go, musle myalgia's, severe fatigue, discoid plaque like skin lesions (typically confined to lower legs, although have had on upper thighs, breast, and arms), and pain in my hip joints.
I have had 3 bone marrow biopsies, a kidney biopsy, and 3 skin biopsy. My last bone marrow biopsy showed a slight increase in plasma cells 7%, but not enough to diagnose mutiple myeloma. I have been tested for just about every autoimmune disease out there I think. I was scheduled for a VATS lung biopsy because my last CT showed tree-in-bud opacities, but had my mini strokes the week before so it was put on hold. My hematologist has brought up sarcoidosis, but other than that, he has no idea.
I think my worst fear is going through yet another biopsy only to be told "I don't know". The only other disorder I can find that seems to fit is Sneddon's syndrome, but I have not had much look with doctor's here being willing to consider something rare or outside their comfort zone. My hematologist said he had never even heard of it, although he was willing to research it. I am still waiting to hear back.
So any input, info, similar experience, or ideas I would love to hear them. I am ready to get off the medical mystery merri go round.
You must join this user group in order to participate in this discussion.
You are reading content posted in the SURVIVING NEUROLOGICAL LIMBO LAND - NO DX Group
A list of national and international resources and hotlines to help connect you to needed health and medical services.
Herpes sores blister, then burst, scab and heal.
Herpes spreads by oral, vaginal and anal sex.
STIs are the most common cause of genital sores.
Condoms are the most effective way to prevent HIV and STDs.
PrEP is used by people with high risk to prevent HIV infection.
