HH, My Story!

In the fall of 2002, my older sister, Donna Carter Cook, called to tell me she was dying of primary liver cancer. I was unbelieving; she was only 59, had not been a drinker, had not had hepatitis... She has since died.
CONCOMITANTLY, my own doctors (specialists all!), concerned about my gradually rising Hemoglobin and Hematacrit values, (with MUCH coercion!) finally ordered specific tests (in order): complete pulmonary function/negative, TIBC/some questionable (but not overly HIGH) values, and lastly DNA tests for HH. The DNA came back positive for the HH genes; I was Compound Heterozygous for both C282Y/H63D mutations. Compound Heterozygosity! I don't know who was more surprised; me or the 'doubting' doc! SUDDENLY, my world came into focus. A legitimate medical REASON had been found for most of my ills!
I was NOT a hypochondriac! I was NOT lazy (well, not very!). I was NOT an attention seeking nut!!! I was NOT suffering a forever clinical depression! A weight was lifted from me; all that internal questioning, self-doubt, and blame. (One of days I'm gonna send a letter to each of those docs who so blithely gave me the brush off over the years!)TODAY, many docs are uneducated as to 'genetic' disorders, specifically IRON genetic disorders, that even with the DNA tests in hand, they refuse, or choose, not to believe! I guide them towards 'resources', then find another, more sympathetic and interested, doc!
My own DIAGNOSIS of Hereditary Hemochromatosis came too late to prevent many of the 'complications' of HH that I suffer from though further damage might be prevented with treatment, simple treatment! Therapeutic Phlebotomies! (Perhaps even further cancers or recurrences could be staid off...)
DIAGNOSIS & TREATMENT did bring a gradual 'lifting' of the terrible, fatigue. By the time I was diagnosed I spent most of my time in bed. Not because I wanted to, but because I had no choice. I didn't lie there and read; I lay there like a log. If my head itched, I was literally too tired to raise my hand to scratch it. I'd actually gotten to the point where I thought I was just going to lay there and die from tired. Yet the docs could find nothing wrong! I took consolation in that perhaps an autopsy would find the answer...UNLIKE the HH literature indicates; that symptoms don't appear till mid-life; I'd suffered from varying degrees of fatigue, joint pain and muscle weakness since early childhood. (Research continues and 'modifying' genes are being identified.)
With treatment, the pall of fatigue GRADUALLY started lifting as my Hemoglobin and Hematacrit lowered. I like to think that my blood sugars are now easier to control (insulin), but that probably isn't the case. The Arthralgia remains unchanged.
I am out of bed all day! I get dressed and comb my hair every day! I can shower daily! And I have plans for a future 'active' life! Miracles happen!
SO, if you have physical symptoms that have gone 'unexplained', if all the tests come back 'negative', don't give up HOPE of finding an answer and perhaps even treatment!
Get a different doc. And still another doc! Have the tests repeated and repeated again. Look towards 'rare' disorders and conditions. Do research on the web! Join all the 'lists' of folks with similar symptoms. Ask questions! If I hadn't done all this, I'd probably be 'dead' in my bed from 'tired' by now...