tag:blogger.com,1999:blog-6636098126419169338.post8620476524329212146..comments2023-10-04T10:38:43.390+00:00Comments on Stephen Cobb's Personal Blog: And the Damage Done: Hemochromatosis recapStephen Cobbhttp://www.blogger.com/profile/04204736531276318817noreply@blogger.comBlogger56125tag:blogger.com,1999:blog-6636098126419169338.post-38002911354136674152009-09-21T12:22:06.000+00:002009-09-21T12:22:06.000+00:00Hi Stephen Sorry to hear your wife has had such a...Hi Stephen Sorry to hear your wife has had such a hard time with this shockingly unrecognised, by General Practice (GP) Doctors, 'common' genetic illness. I recently found out that I have Genetic Haemochromatosis (note English spelling!) last year at the age of 48, after joint problems (some times the first indicator of GH), fatigue and liver issues. I was lucky that it only took me 2 years to get diagnosed, and that when I pushed for a private consultation it only took 2 GPs for me to get referred to a Rheumatologist! Although the NHS is great, I have a paid up membership of Benenden, a society that pays consultancy fees to speed up referal processes that can be slow - especially if GPs don't want to refer - a problem when the illness is not even recognised by them! Even with my membership (no initial cost to NHS through Benenden referal),- the first GP said that "no I had Osteo-arthritis as per my private MRI Radiologist reports, so I won't refer", although I could feel joint pain in all my major joints getting worse which underlined a systemic problem as far as I was concerned. The Rheumatologist I eventually saw privately, thankfully put me down for a Ferritin test amongst others, which the NHS consultant Rheumatologist I saw later, worryingly told me they did not routinely screen for! This showed my levels to be alarmingly around 2200 (normal max 300). After 20 litres of blood lost over the last year my Ferritin is down to around 20, although my joints are I feel getting worse, venesection usually does not undo joint damage, although stressed organs, like my liver, have hopefully recovered to some degree.<br><br> The problem is there is no one consultant that I have seen that has said what I should be checked out for, although Haematologists are monitoring my levels - it has been up to me to push for further consultations with Rheumatologists, heart specialists and probably next endocrinologists as my fatigue also still exists. My Hepatologist has pushed for a Liver biopsie, after normal Fibro and Ultrasound scans, she says joint problems might be nothing to do with haemochromatosis, venesection might just be a placebo effect and that she wouldn't have bothered having my testosterone level tested (my GP did after I asked), but is quite happy for me to munch away on paracetamol after diclofenac for my joints nearly did for me - she sees the problem as being purely one of the Liver - funnily though my brother 2 years older than myself, also with haemo has had his Right Hip recently replaced (which I'm also currently putting off - he's a firefighter!) and an operation on knee cartilidge, he was not aware of his status until my diagnosis - his Ferritin was only 600 and he had no raised liver function! <br><br>I for one feel that the governments and health services of both the US and UK have badly let down those with a Celtic genetic lineage - I was not aware of a Celtic connection in my family, although the genetic illness has been around long enough to also permiate the general population. It is well known in the scientific community that Iron is toxic in doses that are surprisingly small i.e 200mg of an Fe2+ compound can provoke a toxic response - see the wonderful - 'Natures Building Blocks' by John Emsley. It obviously makes sense that those loading Iron are being slowly systemically poisoned.It would seem that the US Insurance system that is happy to spend loads on treating symptoms of those who are covered, as per Suzannes comments above, may be just as bad as the UK system that does the opposite, but ends up supporting later an aging and damaged population which could have easily been prevented.<br><br>Best Regards<br><br>Mike Chappell <br>Bristol EnglandMike Chappellnoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-15186774090037613142010-02-07T23:47:21.000+00:002010-02-07T23:47:21.000+00:00Janet -- So sorry to hear of your suffering. Hopef...Janet -- So sorry to hear of your suffering. Hopefully you can find the right diagnosis and treatment. What I am about to say has to be prefaced with this: IANAD -- I am not a doctor. However, in all my reading there is no indication that the bronze skin condition is "required" for hemochromatosis. It is just one of a range of of ways in which the condition manifests itself.<br><br>A liver biopsy is one of the main tests for hemochromatosis, but a DNA test is required to tell if you have hereditary hemochromatosis. This is an important test because it can indicate other family members who might be at risk. <br><br>While the excess iron can almost always be reduced by frequent blood donation or phlebotomy, the effect of the condition on your internal organs and joints can be harder to undo, so catching this early, particularly in young family members, is very important.<br><br>I would like to see regular screening for excess iron, particularly in 'at risk' groups like persons of Celtic ancestry. It could prevent so much suffering and the cost of screening would be way lower than dealing with undiagnosed hemochromatosis. <br><br>I wish you all the best, hang in there...Stephencobbienoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-39652135428396284862010-02-09T14:12:04.000+00:002010-02-09T14:12:04.000+00:00Thanks so much for responding to my comment. Here...Thanks so much for responding to my comment. Here is South Africa this is apparently not very common or diagnosed. My grandparents were born in England and Scotland and I never knew how important it is to know your family tree until now. I will certainly inform family members who may be at risk to prevent their suffering as soon as I know for sure. Thanks again and all the best..<br>JanetJanetnoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-85336876229053631152009-08-26T06:39:07.000+00:002009-08-26T06:39:07.000+00:00I have HH and have had it all my life. I started ...I have HH and have had it all my life. I started presenting with symptoms at 33 after being on multivitamins with iron. I was never even tested to see if I was anemic. This disorder is easily identifiable through the use of relatively inexpensive tests. If the doctors would have used those tests, they would have discovered that I never needed iron. Doctors and insurance companies have not ever been in the business of preventive medicine. Healthy patients don't produce much income. The money that could have been saved by the insurance companies by simply drawing a few tubes of blood and running 3 to 4 inexpensive blood tests is in excess of $200,000. I am finding out now how extensive the damage is so that cost is fairly conservative. How can we find advocacy in a system that discounts this disease? Sickle-cell, Tay-Sachs and Type I diabetes are routinely tested for. Yet this one eludes the medical field because the bulk of the damage is culmulative. Dare I say it is mostly found in the Caucasian population? No one tests for it until the patient has symptoms who knows how pervasive it is throughout America?Suzanne Shuemakerhttp://NAnoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-39811308038001085682010-02-07T03:01:31.000+00:002010-02-07T03:01:31.000+00:00I am 47 years old and had some ruitine blood tests...I am 47 years old and had some ruitine blood tests done and the nursing station called me to say I need to have more tests done because my iron was so high. The ferritin levels was 650. After I had the other tests for Hemochromotosis it came back I had one defective gene. I went to a specialist he wants to do a liver biopsy. I asked him if the test could be a mistake as I do not have the bronze skin. He discovered a small goiter. He now sent me for more blood tests just to make sure there was no mistake. I will see him again on Thursday. One problem I had is I could not get out of bed at one stage and walk straight away, my feet were stiff and my heels extremely painfull and if I sat for a period of time would have to rub them and walk on my toes first before I could eventually walk on the full part of my feet. The problem comes and goes though. I sometimes get a swollen tongue and feel I can't swallow and I get very short of breath. I also get a pain in my upper left side of my abdomen. If I don't have Hemochromotosis, why are my ferritin levels so high. I also want to make a note that I do not drink alchohol. This is very scary and the future looks bleak if it is the diagnosis.Janetnoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-22920590031065890272010-04-26T20:09:34.000+00:002010-04-26T20:09:34.000+00:00I was diagnosed through a DNA test in 2005 while o...I was diagnosed through a DNA test in 2005 while on Active Duty at the age of 41. I had been suffering chronic fatigue and pain for years and if it were not for a persistent intern I may be in very bad shape today. I went to see him and told him, this makes no sense. I work out all the time, don't miss work, and I am a great worker, but I feel terrible every day. Two months later I get a call from him at home. He had searched through my years of bloodwork and noticed that my blood was really good, too good in fact. I was on the high side of normal fro hemaglobin, and he thought that pointed to hemachromatosis. So he requested more blood work and found my ferritin very high....hmmmm, so he goes to order a DNA test for me and his boss (an experienced Dr) told him he was out in left field and said no to the test, so he went to a hematologist...who also told him he was out in left field. So .... he knew he was right and ordered the test anyway. Bingo! He was right. Now how crazy is that?<br><br>So I have been having my blood-lettings for years now, but my body is pretty broke. I am 46 years old, have had knee surgery, foot surgery, double hernia surgery, left shoulder surgery, right shoulder requires surgery but I refuse to do it. Every surgery I have gains me more scar tissue and more pain. I have chronic pain all over my body and have constant head pressure that started about 10 months after my phlebotomies began. I think that is from the stress of being in pain all the time is causing, plus TMJ. I also have Asthma, double vision, cracked teeth, spondylosis, degenerative disc disease L4 and L5, Ulcerative Colitis, Diverticulitis, GERD.<br><br>I have been considering chelation. Has anyone done this? I have heard that phlebomies only reduce the iron in the blood, but does not reduce the IRON that has deposited itself in joints and muscles.Michael Williamsnoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-66562420778546590492013-01-21T16:38:41.000+00:002013-01-21T16:38:41.000+00:00Thank you! Starting to go crazy here. My poor husb...Thank you! Starting to go crazy here. My poor husband, lol. I also have a 6 year old with autism, so i need to be able to keep up with him and I am finding it harder and harder. i am a noon duty aid at his school (I watch the kids on the play ground 7 make sure they are following rules) this is becoming too much for me. I love being with my son and with the other kids I just don't know how much longer i can keep going. Anyway, it feels so good to vent. Thank you for sharing your family story.Julienoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-15948690264622452442013-01-21T16:11:54.000+00:002013-01-21T16:11:54.000+00:00Sorry, I have been distracted. I can suggest seve...Sorry, I have been distracted. I can suggest several places to look for more input and support: http://www.irondisorders.com/ and http://celticcurse.org/ and https://www.facebook.com/HemochromatosisStephen Cobbhttp://http:/cobbsblog.comnoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-4174112690805266712013-01-21T16:11:07.000+00:002013-01-21T16:11:07.000+00:00Julie -- Well it doesn't seem like it's al...Julie -- Well it doesn't seem like it's all in your head. These are real symptoms: stomach pains, joint pains, wieght loss, hair loss, and so on. I cannot comment on things like test results, but I can suggest several places to look for more input and support: http://www.irondisorders.org and http://celticcurse.org/ and https://www.facebook.com/HemochromatosisStephen Cobbhttp://http:/cobbsblog.comnoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-74617758953324323862013-01-21T15:48:57.000+00:002013-01-21T15:48:57.000+00:00Just got labs done and my TIBC/UIBC were low (239/...Just got labs done and my TIBC/UIBC were low (239/64) and my Iron Serum/Iron Saturation were high 175/73. I have been having chronic fatigue, stomach pains, joint pains, wieght loss, hair loss, and is getting to the point where I am having seizures. We thought for sure it was an overactive thyroid my that test came back normal. Have yet to be diagnosed with anything, but something is definitely going on and feel I am slowing withering away. Help!!! Any advice? Do you think i have cause for concern or is it all in my head?Julienoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-8418611416555975382012-06-12T01:03:07.000+00:002012-06-12T01:03:07.000+00:00Mary -- I strongly urge you to get your iron level...Mary -- I strongly urge you to get your iron levels checked. That is one way to know if your body is retaining too much iron, which is toxic to your organs and joints. I am also a big believer in genetic testing for HH because you may be able to shed light on other health problems in your family. The sooner you know the sooner you can take action, like changing diet and lifestyle to reduce iron. Here is one place to start: http://www.irondisorders.org/diet<br><br>You can also connect with other people concerned about this condition over on Facebook: https://www.facebook.com/HemochromatosisStephen Cobbhttp://http:/cobbsblog.comnoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-87389614501690233582012-08-26T04:44:56.000+00:002012-08-26T04:44:56.000+00:00GreggAre you still out there ?I am also in Austral...Gregg<br><br>Are you still out there ?<br><br>I am also in Australia ans beleive I have HH and am pushing my GP to refer for a FerriScan. I dont have anyone to talk to about blood test results to compare. Could you send me an email to computer@qldcom.com if you can help.<br><br>ThanksBrettnoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-64308266072255964282012-04-03T17:04:55.000+00:002012-04-03T17:04:55.000+00:00I have just been told that my sister has been diag...I have just been told that my sister has been diagnosed with Hemochromatosis and that all us sisters have to be tested. Coinsidentily i was told about 25 yrs ago that i may have this condition but did not follow it up. I have over all these years suffered extream pain in my feet and legs, so bad that i sometimes find it almost unbearable and brings me to tears. Last year i took a TIA and thought i was going to die but thankfully have recovered and am one various medications. Reading the symstoms of this conditions really frightens me as i can relate to a lot of them but am so afraid to be tested in case it turns out i have it. My biggest issue is that how could i have been diagnosed 25yrs ago and am only now that this has been put in front of me that i am having to consider being tested. Is this timescale common/possible...Marynoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-82858000426724163602011-12-19T21:52:50.000+00:002011-12-19T21:52:50.000+00:00I was diagnosed last yr. My Rhuematologist tested ...I was diagnosed last yr. My Rhuematologist tested me after seeing abnormal blood tests referring to iron while checking for arthritis. I guess my age (38) was young for arthritis and it just so happens that she had another identical patient.<br>I am a single mom, I work about 45 hours a week and come home and clean and do all that needs tending. But I am tired a lot. I can explain this by lack of sleep and busy but I am gaining weight and I eat so healthy and work out 3x a week. I have always had decreased libido, and memory is not so good. <br>I need to do something about the weight thought... Anyone heard of this?Stacianoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-76920267958211488132011-12-08T05:53:48.000+00:002011-12-08T05:53:48.000+00:00Hi, I was diagnosed with HH a year ago, after my s...Hi, I was diagnosed with HH a year ago, after my sister was confirmed to have the condition. At 42 years of age, while my iron levels are all at the high end of normal, it appears that I do not have a loading problem as yet. I do ,however, suffer joint pains in my wrists, right knee, and left shoulder. I have tried to ignore these pains, but they don't seem to be going away. It panics me a little as I have enjoyed a very active life, exercising reguarly and working as a nurse in a very physically demanding job, to support my family, and pay for my kids' schooling. Do you know if joint pain can be a feature even without a loading problem? I'm terrified of what could happen to my body and my life. I need to keep working for at least the next ten years until my kids are finished school! HELP!Tori Tassonenoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-74992003482650405932011-12-15T09:02:33.000+00:002011-12-15T09:02:33.000+00:00Hello,I am a 41 year old just diagnosed last week ...Hello,<br><br>I am a 41 year old just diagnosed last week with hemochromotosis. The only reason I know was just luck and a little career success. My job promotion allowed me access to executive health care and annual physicals that are quite thorough. I kept noticing that my iron count was high. And I mean I noticed, not my doctor... Within the last year, my parents were in Ireland and heard that a cousin had the disease so I put two and two together after my last physical and went to hematologist. I am saved (at least i hope no damage and will find out with mri soon) but only due to my own persistance, linking the dots and having friends in the medical field. If its so common, why is it missed and why not just test for it in high risk groups to avoid all the pain suffering and costs. I never heard of hemochromatosis until my dad mentioned it. It needs more press.........thanks!Michelenoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-44670892398241150262011-09-22T18:01:11.000+00:002011-09-22T18:01:11.000+00:00I just want to say thank you for your blog. My hus...I just want to say thank you for your blog. My husband was diagnosed about 2 years ago and it has been a struggle to get any doctors to listen to what he is going through they all keep saying this is an old persons disease and minimizing all his symptoms as if they mean nothing I am so frustrated and do not know what to do anymore!!!Rachealnoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-41909202228246193452011-05-03T20:26:21.000+00:002011-05-03T20:26:21.000+00:00Hi Stephen and Chey...I would love to hear your th...Hi Stephen and Chey...I would love to hear your thoughts on my symptoms that I list in my blog. I was the youngest diagnosed in my area over 12 years ago, and I am just now suffering from all of the joint pain. I thought I was going crazy as I am only 36, and no one could link it to my HH. No amount of research I did added up to my symptoms until I found Hashimoto's disease. It took me 10 months to convince a doctor that my thyroid was having problems and that they needed to treat me. Thanks again for this blog.Aimeehttp://theburnedhand.wordpress.com/noreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-36191106013232136872011-03-26T12:35:35.000+00:002011-03-26T12:35:35.000+00:00Mike. The reason your joints do not "feel&quo...Mike. The reason your joints do not "feel" any better is because the bone marrow turning iron into blood (lost through phlebotomy) happens around the ends of the bones (my understanding of research). So it is in the joins that you will feel the effects of your body FINALLY using the iron stores for some good. <br><br>I am a Soldier, not a physician. But I have read a lot on this disorder since my family has it in their genes.n8whitnoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-63477121239215936462011-01-21T18:20:36.000+00:002011-01-21T18:20:36.000+00:00Hey Joe, one thing that concerns me about your pos...Hey Joe, one thing that concerns me about your post is your use of Aspirin. HH is tough on the GI system, and if you have HH aspirin is very bad for your GI system. Something to consider should you be diagnosed.Michael Williamsnoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-52525532784454831612011-05-08T10:43:11.000+00:002011-05-08T10:43:11.000+00:00Hi - My heart goes out to you. Your blog is a God...Hi - My heart goes out to you. Your blog is a GodSend to me, because I have and am still suffering from everything in your blog.<br><br>The most upsetting response to this whole situation is having "medical professionals", who are not familiar with HH, tell you that it's all in your head.<br><br>I feel like I have been handed a death sentence with no appeals available and there is not a night that goes by that I don't pray that God just let's me go. But, since I am still here tells me that God is not done with me yet.<br><br>I refuse to go to a "medical professional" because of the minimization of the illness and them almost killing me through overmedications and unnecessary tests. So, as bad as this "condition" is, my heart lightens up a little when I read blogs like this, because I know I'm not alone.<br><br>Why does everyone refuse to help you? Why do "professionals" (i use this term loosely) minimize this tragic condition? Where do I go from here?<br><br>I'm just lost and need to vent, so thank you for posting your blog.Karennoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-24951368415412264462011-03-01T13:00:50.000+00:002011-03-01T13:00:50.000+00:00I too have HH, diagnosed finally at 55. I had been...I too have HH, diagnosed finally at 55. I had been complaining to my Doctor for years about pain in my knees and hands but nothing showed up on x-rays and my tests for RA always came back negative. It wasn't until my liver numbers rose - and I saw a gastroenterologist - that a ferratin test was done. My ferratin level was 6855.<br>Luckily, it only took eight months of twice weekly phlebotomies to bring me down to below 50, but I have also been diagnosed with cirrhosis. (I must admit that I was a bit of a drinker, especially after my wife died from cancer, but those days are done.) <br>I have been on a maintenance schedule for another eight months but still am in a lot of pain from my hands, knees and hips. I don't know if that will ever go away. A Rhumatologist that I saw just shrugged and said "You have Hemochromatosis, I can't help you" and left the room. Nice. <br>DonDon Cameronnoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-8148783764066840002011-01-05T09:47:43.000+00:002011-01-05T09:47:43.000+00:00Dear Joe,The only treatment available (at this tim...Dear Joe,<br>The only treatment available (at this time) is good, old-fashioned blood letting (phlebotomies.) In a normal phlebotomy they take out more blood than usual. Your doctor orders the phlebotomy which is often done in a clinic/hospital/chemotherapy lab. You don't go to normal blood donation sites for a phlebotomy (although they are not supposed to refuse you, many normal blood donation sites will turn you away.) If the blood donation site is familiar with HH they may have a special "waiver" for treating you. (Loooong story about bureaucratic insanity.) Many blood donation sites will draw your blood and then have to throw it away!<br><br>I'm sorry my reply is too late for your doctor's appt, but most of the answers you need are at www.irondisorders.org. We've met the people there personally and they are all really caring and cool. Good luck with your doctor. (BTW - if you have HH, he should probably refer you to a hematologist.<br>CheyChey Cobbnoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-83111520922750784942011-01-21T18:17:01.000+00:002011-01-21T18:17:01.000+00:00Chey,Thanks for the reply. I have had a Dr. that t...Chey,<br><br>Thanks for the reply. I have had a Dr. that tells me all of my problems are very like from the HH. She also told me that the damage I have is irreversable and that even chelation won't fix that. Phelebotomies are really are only answer for keeping it from getting worse, but even that wreaks havoc on the body after awhile. I do know there is a place in Virginia that does Chelation as my therapists husband had it done there. If you want to communicate directly my email is miked1@comcast.netMichael Williamsnoreply@blogger.comtag:blogger.com,1999:blog-6636098126419169338.post-67975551052721800442010-11-22T07:00:15.000+00:002010-11-22T07:00:15.000+00:00Hi - and thanks for the information.I was diagnose...Hi - and thanks for the information.<br>I was diagnosed with haemo (homozygous C282Y) in July 2010 as an outcome of many tests to determine the cause of elevated liver enzymes. According to the MRI (ferriscan) and blood work, my Ferritin level was at 4500 ug/L and yet I had not suffered any obvious symptoms! From what I read here and on other sites, people with a level of just 600 can suffer greatly. How come I am still able to stand, walk and carry on a normal life? I'm confused any my haemotologist is astounded.<br><br>After 4 months of venesection my level is down to 1000 ug/L and (cross fingers) should be in a normal range within a couple of months. Getting theraputic venesection in Australia is not too difficult - even if they can't use the donated blood.Gregg Hellerennoreply@blogger.com