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.
