Living with Hemochromatosis Cont. (4)

Programs_FosterCare.html-0Its been a little while since I have reported on my journey with the hereditary disease.  One of the reasons is because of clear and quick progression of its symptoms effecting my ability to function like I had previously.  With that said, here is my account of recent events.

I went to the new doctor that provided hope of having someone in the medical field that demonstrated concern, willingness and cause to help me with several issues I am experiencing.  I went to see Dr. Miller initially on March 21st of this year.  In the short time that has elapsed, I know more about whats happening to me than what all the other physicians were able to communicatein all their office visits combined.

He began with reviewing my labs and stating he was not totally convinced that I in fact had developed full blown Hemochromatosis (HFE).  He went on and explained that just because I inherited the genes for it, doesn’t mean I have developed the actual disease, only 2% of the population actually develops the disease. To be sure it was HFE, he wanted to double check that it is not Rheumatoid Arthritis as the two can mimick each other in some ways such as joint pain, fatigue and morning stiffness.  When he reviewed my labs he noted that I had been tested for the RA Factor which was positive and indicated some level of inflammation in my joints, but the Sed Rate test to determine actual RA was never performed.  He ordered the lab along with an updated Ferritin level and Cardio CRP, and B-12 tests.  A new appointment was scheduled for two weeks later.  Before leaving I was administered a B-12 shot to help with the fatigue and provided a prescription for “Mobic” for the arthritis like pain.

The next contact with Dr. Miller was by phone.  His nurse passed along this message on his behalf.  Unfortunately the test results confirmed Hemochromatosis has developed and there is no evidence of RA.  Additionally all my inflammation lab results are elevated including the Ferritin being up almost a hundred points.  A phelbotomy has to be done dispite my borderline anemia hemocrit number of 37%.  He provided the documentation for a Handicap vehicle window marker and a blood center order for 6 monthly phelbotomy draws and a lowered limitation preventing draws with a hemocrit % lower than 30%.

I felt more confident in the diagnosis, because to my knowledge his extra labs and thoroughness made sure the Hemochromatosis diagnosis was correct.  He also gave it the benefit of the doubt before just accepting what his collegues had said.  While I wish it was something that had available and successful treatments, this is what I am left with to deal and face in the time to come.  I was very disheartened to learn that when two of the previous doctors said today is my best day each and every day going forward, they were probably the honest truth I did’nt want to hear or accept.  I take comfort in knowing I just didnt accept it, I fought it in the effort to make sure the diagnosis was factual; first seeking other answers before giving in to the darker future painted for me by the physicians.

I went and had my second attempt at the phelbotomony done.  Successfully this time and my hemocrit was up to 39% from the 37 good news I guess.  Expectant to feel a little less fatigued within a couple of days of the draw, I have been disappointed.  Instead of feeling better, I feel worse, more tired and fuzzy headed than usual.  Since my initial diagnosis in December my symptoms continue to increase at an alarming rate.  The amount of pain in my hands and hips and sporadic body locations is rising significantly.  The mobic is not very effective.  According to Dr. Miller and the other specialist there is nothing they can do that is not currently being done.  On a day to day basis, its hard for me to plan things as I never know how my day is going to be. Labeling my days as good, bad and existing, lately the odds have not been in favor of a good day.  I continue to try my best to push forward and not just laze around all the time, but doing so is getting harder and harder to do.

I am told that after several phelbotomonies are completed the ferritin levels will come down and I will feel better.  But I am doubting it based on how I feel after the first one.  I am trying to make plans to lighten my life load “again”.  Making daily life simpler, less complicated and hopefully more enjoyable with my complicated health condition.  The thing that concerns me most is how quickly the pain is increasing and how the increasing fatigue is taking over my life.  I feel dispondent for my family, it cant be easy for them.  And my husband is having to do so many things now that I have always taken care of previously, it makes me sad.  The depressive and difficult mindset I have lately in trying to cope with the downward spiral of pain and fatigue is hard to fight.  It is getting harder to pretend everything is okay when clearly it is not.  I am not able to cope with the pain well, my tolerance is either very low or time is erroding my ability to deal with it.  Which is situation factual I do not know.  My mind has good days and bad.  The bad days mentally is when things are fuzzy, I cannot think clearly enough to manage important affairs, but yet I am functional enough to take care of daily routines such as feeding the grandbaby and getting dressed, and doing other piddling things  So I am not incapacitated mentally, just challenged on some days with things that require me to think financially or remember where I put my keys or what time it is and things like that.

This is my update, tomorrow is another day…where this is all going I dont know, but I am very comforted to know that my Lord and Savior is walking this path with me and before me.  I am comforted to have a wonderfully devoted husband and mother that I just cannot do without at this time in my life.  I pray for healing and believe it will take place at anytime, but until then I hope my journey in writing will help someone else on this same journey.  I would love to hear from you and how this helps you and how your journey may help me.

I want to mention that I joined a Facebook group that is closed (and honors request memberships only), the members are very knowledgable and has been supportive and helpful.  It is dedicated to individuals diagnosed with Hemochromatosis.  If you have this disorder, here is the link…

Until another update impresses upon me to write….

God Bless you,

Lovada Rae


Living with Hemochromatosis

I was recently diagnosed with Hemochromatosis after a long search for the reason for my achy bones and chronic fatigue.  My story begins in about 2012, when I began finding it very difficult to get through a workday without involuntarily falling asleep.  I tried bumping up my energy level with energy drinks for a while, but it didnt really work for me.  I began to have chronic earpain which convinced me to go to the doctor and find out what was going on.  This was not an easy choice because I did not have any health insurance and our household income had been reduced to a quarter of what it was due to the economic crash.  However I felt poorly enough I called the County Health Clinic and made an appointment.  Their fees are based on income so it made it a little bit more affordable.

I went to the appointment and they did a lot of bloodwork.  The Doctor said my ear did not look infected but had a lot of fluid and looked somewhat abnormal.  A new appointment was scheduled to return for test results.

The test results showed confusing information that didnt provide many answers.  Slighlty elevated liver range, slightly enlarged red blood cell count, and a very low vitamin D3 result.  I was told to load up on D3 and see if that makes it better because a low D3 can cause fatigue.  Also I was given medication for the ear fluid.

Time went by and I returned for a recheck with little improvement.  At this time my weight was also creeping up and the stress level at work is growing.  the doctor again thought some additional bloodwork should be done.  The results were the same except the vitamin D3 level had improved.  It was not to the normal level yet, but much better. This time the sugar test showed a higher level indicating borderline diabetes and the arthritis test was slightly high.  I thought the diabetes threat was normal with my increased weight and family history of the disease.  The arthritis level was explainable too with my aching bones.  The ear continued to give me problems but it seemed there was not an explanation for the fatigue and it was chalked up to the ear and work stress.

About a year goes by with little improvement and I unexpectedly lost my job.  The stress level was on overload and a antidepressant was added with great results.  The only issue was the fatigue was ongoing and each day I found myself literally pushing through to get things done and function normally the best I could.  It was about this time my husband was made full time at his new job and he would be given medical benefits.  We were hopeful of adding me to his insurance next year.  In the meantime I worked odd jobs for a little while during a search for a new permanent job.  It was at this time I began doing foster care.  The foster care decision really helped me in many ways.  It fulfilled my passion of servitude, it helped with my empty nest issues, it provided a small amount of income and it was something I could do and still be able to take naps on bad days.

Time goes by and the healthcare sign up time has arrived at my husbands work and I am added to his insurance plan.  By the way I had previously looked into the Health Exchange Insurance program for coverage, when I worked it was too expensive and when I was out of work I didnt qualify.  With the new insurance I went to the doctor for a check up and to talk to him about my existing health issues.  I also went for a check up with my OB/Gyn.  It was now suspected the fatigue and achyness was a result of menapause.  I made the appointment, did some hormone blood work and was put on a very low dose of estrogen.  Great, I’m thinking this is the answer to feeling better, wrong!  The estrogen did help with the hot flashes but none of the other issues.  I continue to live with it for the next year.  During this time my family is telling me their concerns because to them I appear to be very ill and dispite my best efforts to hide how I really feel they are seeing through it.

It’s November and time to sign up for another year of health insurance has come about. This year (2015) my husband talks me into participating in his employer’s “Blueprint for Wellness” program. This is where you voluntarily go and have bloodwork testing performed to check for potential issues you may not be aware of.  It’s designed to be a proactive tool for health improvement.  My results came back and they were very alarming. My results were flagged for Cardio CRP, Hemoglobin A1c, Ferritin, MCV, MCH, and Vitamin D.  Dropping my overall health percentage to 63%.  These results in a nut shell indicate borderline diabetic, High Iron Levels stored in the body, Cardio issues, Enlarged Red Blood Cells and again low Vitamin D.  Red flag!  I make another doctor appointment.  Strangely enough the results make me feel better emotionally.  Because, now I know that I am not a hypochondriac there is a real reason for my fatigue and achiness.

Internally I worry about people thinking I am lazy or that I am looking for a reason not to do things I should.  So I push myself hard to keep going and continue to produce results just as I always have.  I expect a lot from others and I hold myself to the same principal. With the fatigue I often feel like a failure and it depresses me, especially when they can’t find a real reason for how poorly I am feeling physically.  So the medical testing report gave me peace of mind and added worry as to what all these negative test results add up too.

Next Phase…getting to the bottom of it all..

I contacted the Health Department and obtained copies of all my previous testing.  With the Blueprint for Wellness testing report and the copies of the previous labs I went back to see my doctor.  I am a relatively new patient of his and I dont have a good understanding of his bedside manner yet.  This creates a bit of an unsure confidence for me in his dedication to get to the bottom of what is happening to me.  On appointment day he reviews all the testing and tells me most women my age complain about fatigue and by the time they are 65 they must feel better because they stop complaining.  He also said I could starve myself and lose some weight, this would help the achiness.  But he did have a couple concerns with the labs results; the Ferritin level was too high and he wanted to look further into the arthritis testing result.  He told me that a “Bloodletting” procedure could help with the Ferritin Level (Iron).  But first lets do more tests to be sure there are no false positives.

Upon getting the new test results back, the doctor’s office contacted me and said they were scheduling a specialist appointment with a Rheumatologist.  I asked what about the rest of the issues, the nurse said nothing was mentioned.  I asked her if the doctor would refer me to a Hematologist for the englarged blood cells and ferritin levels.  She said she would get back with me after speaking with the doctor.  She called back with an appointment for the next week with the Hematologist.  The Rheumatologist appointment is over three months away.  My confidence is increasing that something was being done to figure out what the root of the problem is.  I have a lot of symptoms but no diagnosis at this point.

My husband accompanies me to the Hematologist appointment that is scheduled at the local cancer speciality center.  The resident intern speaks with us first and goes over all the new test results then the previous.  She states her concern about the results and suspects a minor possibility of an arthritis related disease or Hemochromatosis.  At this point I had visited the medical sites on the web and Hemochromatosis was one of the things the website pointed out.  The doctor comes in…he is in an obvious hurry, he confers with the resident in our presence reviews a couple test pages then says he wants more testing done to confirm or rule out possibilities and leaves the room.  Within a few days I had many vials of blood drawn for testing and a ultrasound of the main organs in my abdomen.

My return visit for answers…hopefully.  The resident comes in the room like before and I am there by myself this time.  She says the tests confirm multiple related issues going on.  She begins with Epstein Barr Syndrome to which I tested postive.  She goes on to tell me this is a form of Herpes.  My mind is spinning, where did this come from?  Herpes?  I have only had one partner my entire life how could this be I asked her.  She said its not what I am thinking that there are different types and the most common form is from contracting mono at somepoint then becoming a carrier for it.  Going back I recalled someone at work saying they had just got over having mono, was that when it happened I thought?  Honestly the more I think about it, the more I dispute this diagnosis because I never have any symptoms of this illness, nor has anyone in my family contracted this. If I was carrier wouldnt I have passed it along to others?  Then why has that not happened?  Again I dispute this finding for retesting at a later date.  Going further she explains the liver levels are increased because I have cirrosis of the liver mine is enlarged… again I am thinking what?? I dont even drink or smoke, really?  Next the arthritis RA factor came back high.  Continuing she states, I am definitely borderline diabetic, no surprise there or so I thought.  And lastly she says, I tested postive for two copies of the H63D mutation in the HFE gene, in other words, Hemochromatosis.  She goes on to tell me that so far there is no indication of mutation in the genes, which is the only good news I have received so far.  Technically the Alleles indicated H63D/H63D Homozygote proving positive for evidence of HH.

Not being medically astute with all this I ask her what does this mean exactly and what are the treatments.  She says there is nothing to be done for a carrier of Epstein Barr. She said the Rheumatologist will want more testing most likely and will decide exactly what related form of disease I have and he will treat it.  The liver, she said to try to watch your diet and not eat too many fried and fatty foods.  The liver disease is caused by the Hemochromatosis.  In fact the diabetic issue, the liver issue and the arthritis diagnosis are all conditions of having Hemochromatosis.  Okay, so how do we fix it I asked?  We can’t she said there is no cure it is a gene malfunction and you need to let your children know they should be tested for the disorder because it is hereditary.  She continued with sometimes bloodletting will lower the Ferritin levels preventing some additional damage to the liver and other possible organs.  Wow and Oh are the only words that come to my mind at that point.  The doctor came in and confirmed what she had told me, the appointment was over and a six month follow-up was scheduled.

It was almost Christmas and my husband and parents wanted to know what are they going to do to help me feel better.  When I told them nothing but recommended I keep the appointment with the Rheumatologist, they were upset.  My mother was determined something must be available to help me and she went and talked with her doctor about me.  You just have to love Moms!!  She called me and said her doctor highly recommended I see if the blood letting procedure would be appropriate to help me.  She said this procedure has been very helpful to many for the fatique.

Meanwhile I again was researching Hemochromatosis, its symptoms, its treatments and its effects.  The doctor left a lot out during my appointment in which I was told I had this disorder.  It was never mentioned to me if nothing was done to help treat it (recognizing there is no cure) the Ferritin levels would continue to increase and damage my main organs leaving me to an untimely death.  Umm, I think this is information I needed to know!  Again the treatment listed was bloodletting or a some kind of injection for really severe cases.  Putting it together didnt the doctor tell me I already had cirrosis of the liver from this disease?  I believe most likely that it has taken a minimum of three plus years to discover this was the problem.  I do not think I want to wait until I have heart and pancreas damage too before trying to minimize the effects of it.  A call to my regular physician was in order.  I contacted his office and asked about the bloodletting procedure and would I qualify to have this done?  His office called me back and said he had ordered the procedure and I could come by and pick it up to take to a lab.

I went that same day and picked up the order.  I drove to the lab the very next morning to have the bloodletting done and another test that had been ordered.  With the order in hand I registered at the front desk, prepared for this to take a little bit of time.  I was called back within minutes, the attendant drew a vial of blood and said I was done.  Its that brief moment when confusion sets in because what you just experienced didnt match up to what you expected.  I said to the attendant I thought I had two orders, one for the test and one for the bloodletting.  She replied I had given them two orders and she did the test, but the other one is written wrong.  I said how is it wrong?  She replied it just says Phlebotomy on it and thats what we do not a test.  Huh?  I told her no it was the test and pointed out the diagnosis/billing code on it indicating the purpose.  She again said it was not a test and I needed to recontact my doctor for them to rewrite it.  What else was there to say?  I left disappointed and decided to wait until after Christmas which was at the end of the week to pursue it any further.  Then the doctor was on vacation until the new year. Time is going by and still no help.

Next…..Getting the test done