Swimming Out of the Mud

I exist in the bottom of the gene pool.  That’s the standing joke in my family.  Being the youngest of 10 children, and born when my parents were beyond their prime child bearing years, I’ve had more than my share of health issues.  I’m the one who had sensitive skin and had to have all my clothes doubly rinsed lest I break out in rashes; I was allergic to soap!  I’m the one allergic to bee stings. I’m the one that dislocated not one but both shoulders and elbows as a toddler.  I’m the one who had a major case of chicken pox in my 30’s, a heart attack in my 40’s, and TIA’s in my 50’s.  I seemed to have inherited all the weakest of genes.  I am the mud at the bottom of the family gene pool.  And it has struck again.

A bit of back ground:  When you inherit a recessive gene, it generally causes little to no harm because it is recessive.  It is when you inherit two recessive versions of the same gene that the mutation becomes active.

One exception to this is the HFE gene.  This is the bit of chromosomal matter that controls the way the body absorbs iron in the liver.  There are two common mutations, C282Y and H63D, and one less common mutation, S65C.  Any of these in singular allele has a 50/50 chance of interrupting the body's control of iron absorption and causing iron overload – the body absorbs more iron from food than it needs and keeps absorbing it and storing it in the vital organs.  Double alleles of these, or a combination of any two of these mutation will cause iron overload eventually.  Iron overload will lead to organ damage, particularly liver damage, pancreatitis, and heart disease. 

Lucky me, I have one C282Y allele, and one S65C; only I did not know anything about it.  I’d never heard of hemochromatosis until my oldest son called and asked me about it about 2 years ago.  His iron counts were high and genetic testing showed that he had one allele for the mutation.  Luckily, this has not led to major symptoms for him.  Forgetting that I’m the bottom of the gene pool, I assumed it must have come from his father’s side of the family.  I was wrong.

I've been sick on an off for about 6 months; it’s been such a variety of things that seemed so unrelated: a recurring infection, a few headaches, general malaise.  Since Christmas, however, I've been exhausted and weak. Initially, blood work showed my liver enzymes to be very high.  Further tests have confirmed that my ferritin levels are also high.  And scans show that I have non-alcoholic cirrhosis and diminished liver function.  The genetic tests were the dots on the ‘i’s and crossing of the ‘t’s:  I have active classic hemochromatosis.  Hemochromatosis is the single most common genetic disorder (it is not a disease!) which afflicts 1 in 300 in North America.   I might go play the lottery with these odds!

At this point, the treatment is twofold: a regimen of phlebotomies (blood letting) with the goal of removing accumulated ferritin to bring my counts within the normal range; and a restricted diet that limits high iron foods and foods that increase the absorption of iron while increasing the foods/spices that inhibit absorption. This is a very manageable condition once it's under control.  Once the ferritin levels are down, careful diet and giving blood 4 times a year may take care of it.

In the meantime, while those levels are working their way down with each bloodletting session (phlebotomy), I remain tired. I’m sleeping up to 16 hours a day.  I can’t get through the day without a mid day nap.  And I’m completely done in by 9 each evening even with a nap.  I have no choice but to slow down, stop more often, and take better care of myself.

I'm sick. I will get better. I have to change my life style.  And it's because of this dang-blasted lousy gene pool.  And the mud I got from the bottom of it. 

Here’s the end of my mud bath.  I refuse to roll over and play dead.  I’m getting up and moving on through this thing.  What ever it takes.