On Tuesday, November 20th 2014, at approximately 10:45am, I was diagnosed with hereditary hemochromatosis. This diagnosis came after months of blood tests, an ultrasound, more blood tests, an MRI, more blood tests...you get the point. So, what exactly is hereditary hemochromatosis?
Let's start where I started, looking terms up on-line, shall we? Per Wikipedia:
"Haemochromatosis (or hemochromatosis) type 1[1] (also HFE hereditary haemochromatosis[2] or HFE-related hereditary haemochromatosis[3]) is a hereditary disease characterized by excessive intestinal absorption of dietary iron resulting in a pathological increase in total body iron stores.[4] Humans, like most animals, have no means to excrete excess iron.[5] Excess iron accumulates in tissues and organs disrupting their normal function. The most susceptible organs include the liver, adrenal glands, heart, skin, gonads, joints, and the pancreas; patients can present with cirrhosis, polyarthropathy, adrenal insufficiency, heart failure or diabetes.[6] The hereditary form of the disease is most common among those of Northern European ancestry, in particular those of Celtic descent.[7] The disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.[8] Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition.[8]"
Whoa, right?
The biggest clue to having this condition is one's ferritin levels. To give you some form of reference, a male my age should have an average range of ferritin in the 22ng/ml to 365ng/ml; mine were noted to be 1295ng/ml. Pretty damn high. After a genetic blood test, it was confirmed that I was positive "...for two mild mutations (homozygous for H63D) within the HFE gene. This individual is homozygous for the mild HFE mutation. The risk for clinical signs/symptoms of hereditary hemochromatosis in the absence of other risk factors (e.g., hepatitis, alcoholism, thalassemia, etc.) is extremely low."
Well, that's good news. I guess. This indicates that both my mother and biological father each carried a mutated gene...and passed the clinical version of the condition on to me. And that's just rather annoying but at least I have something solid to blame on my parents.
Its a genetic condition, so it ain't going anywhere. Ever. However, it can be treated. How you may ask? Through a fun thing called phlebotomy. Basically, I will have to go in and have a unit of my blood removed weekly for about three to four months. Once lab tests show my ferritin levels are down to 50ng/ml, those treatments will be dropped to once every couple of weeks, then once a month, then, perhaps, bi-monthly. This will go on for the rest of my life. My first treatment is scheduled for Thursday, December 11th. Woo fucking hoo.
Right now I have two big concerns. One is that I will have to have a liver biopsy. This does not make me happy, but it is really the best way to gauge what damage, if any, has already been done to my liver. Mine has been scheduled to occur on Monday, December 1st 2014. I am really not looking forward to it at all.
My second concern is not really anything that I can much about and that is the knowledge that I have passed the carrier version of this gene mutation on to my kids. We will have to monitor them and their diets carefully from now on. it isn't like we were feeding them crap before, but we now have to be hyper aware of what they eat.
So that is where I am at in these first few weeks after being diagnosed. I know this condition is manageable and that there are many others who may have better or worse aspects of it than myself, whom are dealing with it proactively via treatments, who have been there and done that when it comes to what I am about to. That doesn't stop it from being scary or frustrating.
I am doing this blog mainly for myself, to log the different things I go through, the treatments, the feelings, as well as information I come across as I study everything I can about it. To that end, I encourage anyone else who has this condition to please feel free to leave comments, suggestions, their own stories, etc. Perhaps by doing so we can not only educate each other and share experiences, but also help everyone else to better understand this disease, one that seems to fly under the radar completely but really should be given more consideration.
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