I always forget some sort of important date, like father's day, valentine's day, oh yeah, my beloved country's day of celebration...actually, I didn't really forget about it, just didn't write about it. The other two, yeah, I did forget about a little. Incidently, I now have only 29.5 hours left of being 20. 21 is a weird age to think of being, it's when my friends (that have already turned 21) jokingly (or not so jokingly) call themselves 'old'. Of course, this makes people like my dad, who are in their sixties, laugh! Fact is, a lot of us just don't really count after 21...I guess I face things with aging/not aging with a little more difficulty than many my age though. Looking young may have it's benefits, but then I think of something like how, say 3, 4, 5 years from now, I'm married and have a child...and just thinking of how I might be viewed by others as a teenage mom, or a girl out babysitting, not as a respectable, married mother in their mid-twenties. I guess I'll have to face that bridge when, and if, it comes. Given that there is no guy in the picture at all right now, that 3 year outlook is probably pretty soon! Just the thought of it though, almost makes me want to post a sign on the stroller or carrier that says "stop staring, I am 25 and married, and this is my first child"...when and if that happens!
My dad, sister and I were at my dad's geneticist appointment yesterday where we found out that he is a carrier for the more severe form of Hemochromatosis. Basically, in a person that has two copies of the hemochromatosis gene, they can develop, after about age 40 in men and menopause in women, a condition known as hemochromatosis, which causes iron overload. Early symptoms can include chronic fatigue, depression, abdominal pain, and aching joints. All of those can easily be attributed to the natural aging process, which is why it often gos undiagnosed until much further damage has occured, including type 2 diabetes, hypothyroidism, cardiomyopathy, cardiac arrhythmias, and cirrhosis or liver cancer. Eventually, if untreated, iron can even build up in the brain causing permanent brain damage. Now, my dad is only a carrier, however, this was found out because he had a consistently high iron level (which I attribute to his over-love of red meat). So, because we have no knowledge of whether my mom was a carrier or even affected by the disorder, my sister and I were both tested. We'll learn the results in a month or two-whether we are carriers, free of the disease, or affected by it. Right now, I don't think we have to worry, given that my sister can barely keep her iron at a high enough level even with iron pills to keep her from falling asleep at her desk during lunch and I consistently am 1 or 2 points away from being prescribed iron pills myself.
I'll explain a little bit about how the risks work to my sister and I. Out of the basic Northern European population (and their ancestry, of which we count, being of mostly Scottish descent), approximately 1 in 9 people are carriers. My dad is a known carrier, but the rest is a question. For every gene, we each receive one copy from our father, and one copy from our mother. If my mom was NOT a carrier, than my sister and I have a 1 in 2 risk of being a carrier, as this is a recessive gene, meaning that you have to have two copies of the gene to be affected. I wish I could put up a Punnet Square, like I used to use in high school biology (actually, I do miss doing these problems-but not enough to go into med school, God has indicated that although that could be a successive career, it is not where he is pointing me). However, my computer skills are not great. Perhaps I'll take a picture of it and put it up later! If my mom was NOT a carrier, my sister and I have no risk of the disease ourselves, and have a 1 in 2 chance of being completely free of this gene. However, if my mom was a carrier, than my sister and I have a 1 in 4 chance of being affected by hemachromatosis, and, once again a 1 in 2 chance of being a carrier. We would then have a 1 in 4 chance of being completely free of the gene. If my mom was actually affected by the disease, then my sister and I have a 1 in 2 chance of being affected by the disease, and a 1 in 2 chance of being a carrier-and no chance of being free of the gene. The good news about all of this is that it is entirely treatable. If we are revealed to have two copies of the hemachromatosis gene that was indicated in my dad's test, then all that is necessary is a yearly test to make sure we don't have iron overload. And, really, we wouldn't even have to worry until we hit menopause, as it is very rare in women before then (our wonderful monthly discharge is enough to keep it in balance). The treatment is simple too-donating blood, essentially, if you qualify. Hemochromatosis is not an exclusion from giving blood.
I wish there was a way to test for my mom's cancer, however. Fact is, the doctors weren't even entirely sure that it was adenocarcinoma of the small intestine-they knew it was adenocarcinoma, which can occur in a number of different organs, but they never could pinpoint the exact source, because it was so widespread, and the tests were not conclusive. It may have come from her appendix. Whatever the case, it was a very uncommon, even rare, cancer, and even more rare in that it did not respond at all to three different types of chemotherapy. The fact that my grandma died as well from a mystery digestive cancer concerns me even more. But, there I go again, obsessing about things that might not happen, or that might not happen for 6, 7 decades. The nagging voice in me though gets concerned that it might not be even three decades' time, but just one, if my sister and I were to follow the pattern and develop the cancer close to twenty years' before my mom (like she did of my grandma). In all honesty, I feel that of the two of us, I have a greater chance of developing the cancer than my sister, because in comparison of body structure, my sister is much more like my dad's side of the family, and I am much more like my mom's side-down to my super-short stature, apparently inherited from a great-great-grandma (thanks). It was a weird, weird, weird feeling when at some point during all of this, I wished that my dad's genes would be more dominant in me. I'd never wished that before, because I had always viewed it as 'bad' because his side is a bit bigger boned, and tends to put on weight more easily, whereas some of my mom's relatives could be described as being painfully thin (my grandad in his later years included). In the midst of my eating disorder that was quite a strange experience. So now I find myself hoping to continue with my mom's side of the family in terms of bone structure (I guess I can count on that, it's not going to change) and overall body shape and composition, while wanting my dad's genes in terms of a digestive system. Which is also strange, because typically, I see his digestive system as something to be abhored, because of the way it makes him eat.
Summers are always hard for me in terms of the eating disorder, and that is because I have lots of time. I need to phone my ed counsellor, and then the nurse practitioner with the program because to be honest, it's actually showing. During this month, my weight has dipped about 6 pounds (which is more significant than it sounds when you are 4'9 and of small frame-think a ten or eleven year old). Also, I've noticed a significant increase in dizzyness symptoms as well as some heart flutterings or arrhythmias (and today for a half-second a sharp pain on the left side of my chest-fleeting, but momentarily scary and painful). Half of the reason I haven't gone already is fear that this will be written off as hypochondria because when I was 13 I had some (but less than now) of the heart flutterings-but no pain or dizzyness-and went through a variety of testing to have it come up as nothing. Perhaps some of it is psychosomatic, as I tend to notice things when I'm attempting to eat, or not eating, but then again, for all I know, it's because my body is at that point desperate for some energy.
It just feels like a losing battle no matter what. When I eat, I feel horrible, when I don't eat, I don't feel any better either. I think I'll phone my good friend who is unfortunately back in the hospital (hopefully for the last time) and have a good talk tomorrow. She's one of the only ones that can truly understand.
No comments:
Post a Comment