Hello everyone, and I apologize if this has been covered in other posts, but I haven't read through all of them. What interested me in this group was the "limbo" state that many find themselves, and which my husband found himself for approx 12 years...until recently. He is 57. After many years of tests and dr.s and no answers, finally, finally, they diagnosed him with Hep C. Although our family dr. did not tell us about it, a fill-in dr. told him when he went to get some test results for blood tests for insurance purposes and it came back his liver enzymes were elevated. That is a flag right there, but after 8 weeks and getting retested, no alcohol at all (not a heavy drinker, but occasional) and the results were the same, and the fill-in dr. told him his enzymes still elevated and by the way you have Hep C, and it's been on your file for TWO years!! That was more of a shock than finding out about the HCV. So, now a couple years down the road, and internist has recently diagnosed the genotype, having Hep C 1a. And, by the way, we also found out you have hereditary hemochromatosis. WHAT is that? Since birth you have been storing iron in your body, and it is genetic, so you need to tell your siblings to get tested. Holy moly. So we come home and so some research, and talk about a lightbulb moment. Here we thought that all the symptoms he'd been having for all these years were related to HCV, which they are, but, adding to that diagnosis is the HHC (hereditary hemochromatosis). We found out that it is the most rarely diagnosed common genetic disorder in North America, affecting people predominantly Northern European, Irish, Scottish, English, Welsh...well, he's all that, his Dad Irish, mom Welsh/English. Anyway, the symptoms he presented to the dr office with were all arthritic in nature, arms, muscles, joint pain, fatigue, exhaustion, shoulder pain...these got worse and worse over time. Dr. missed all of this and the blood tests to catch iron overload are simple but NOT routine. A dr. can look and see that iron looks low and say you are anemic, and yet you are actually iron loading!! Iron gets stored in liver first, and causes cirrhosis, cancer, (people who never or rarely drink and are told they have cirrhosis, dr.s tell them they are closet alcoholics) loads into the heart and causes congestive heart failure, irregular heartbeat, enlarged heart, myocardial infarction, stores into brain and onto pituitary gland and causes low libido, hypogonadism, and infertility in women, iron stores on the pancreas and causes diabetes, iron stores in the joints and muscles and causes arthritis, (people with "unexplained" pain and neuropathy are told they have fibromyalgia and osteo arthritis) and I cannot tell you all the other insidious damage this disease causes. I have been amazed by the amount of things my husband has that are linked back to HHC somehow. He also has a rare eye condition that is causing blindness called ideopathic juxstofoveal taliangeactasis, hemorraghing in the retina. So he's in pretty bad shape. His recent liver biopsy showed stage 2 fibrosis with grade 3 inflammation, etc. which is periportal fibrosis, and leads to further damage of liver due to portal veins being squeezed off and blood flow backs up, toxins enter blood, blood vessels rupture and cause easophageal (sp) bleeding ANYWAY...the reason I go into all the details is that if any of you here that are in "Limbo-Land" as you call it and drs are having a hard time figuring you out, ask them about HHC. It is a simple blood test, and you'll see if you are storing iron. Early detection is the KEY to preventing damage to organs. A simple method of taking out the iron is taking out the blood, so my husband now gets a weekly phlebotomy where they take a pint of blood. They have to get the iron levels down before they can treat the HCV. Wow, it's a mountain, and I'm tired, never mind him. Hard to keep it all straight. Look up hemochromatosis if you have any other questions. Anything unexplained...pain, elevated liver enzymes, arthritic pain, diabetes, liver disease, heart problems, worth looking into just to rule it out. Even the fibromyalgia site has a page on this disease, stating the there are many now that have been told they have fibromyalgia that are finding out they have hemochromatosis. The results you will need from your dr are the ferritin, transferrin, TIBC, and the iron saturation %. Check ALT and AST and GGT all to do with liver enzymes. Just sorry for the lengthy diatribe...I feel like I want to shout it from the roof tops. **** 1 in 9 people are carriers and 1 in 250/300 will develop hemochromatosis. It affects women later because of monthly periods, but shows up 5 or 6 years after menopause and men show up with it after their symptoms are more severe usually in early to mid 50's. But it can affect you younger, it's just not detected or tested for and it's not part of dr routine. IT SHOULD BE!! Don't let them poo-poo it, either.
Just spreading the gospel. Hope this wasn't too long and people don't want to read it and miss out on an opportunity to find out about unexplained illness.
Good health to all, Cheers