Skinny Genes

In college I used to be big into the whole skinny jean thing. I still appreciate a good fit in my jeans, but I can’t fathom the lack of utility and freedom in the skinny jeans today. I used to wear Levi 511’s which were their skinny fit jeans a few years ago, but now I wear their 513’s which are straight slim fit.

Anyway, for our first exam block in medical school we had a huge section of Genetics. The subject has never interested me. So, naturally, I decided to write about it. The next few paragraphs will be kind of medical/science speak, and I don’t mean to write like this to alienate my readers or to puff myself up. I actually find this practice rather helpful for my study as it is essentially me teaching what I’m learning and that allows me to reinforce what I know and determine what I don’t know (so I have to look it up). Maybe this will continue to be a thing for me as I continue to study the rest of the semester! I’ll italicize these sections as they aren’t necessarily essential to the blog entry, but they can add a little more depth and trace the background of my thoughts.

There are a lot of genetic disorders, and their pathogenesis, or the way they become a disease (i.e. method of mutation), varies. You might have a base-pair substitution in the gene which could cause a missense (not necessarily lethal) or nonsense (lethal) mutation, a deletion or insertion which would cause a frameshift mutation (usually lethal), or maybe a mutation in non-coding DNA which would affect the regulation and expression of your genes.

If an individual with a mutation reproduces, then we have to consider the possibilities of inheritance of the disease. This is where the infamous Punnet Square is utilized, but, thankfully, medical school doesn’t overly emphasize that square. Instead, our professor emphasized pedigree analysis for the different modes of inheritance: autosomal dominant/recessive, sex-linked dominant and recessive for the X chromosome, Y-linked dominant, and other non-standard methods of inheritance (mitochondrial, genetic imprinting, etc.).

There are classic disorders that arise from each method of inheritance. Achondroplasia, a disorder in which your long bones don’t grow at a normal rate and is a cause of dwarfism, is an autosomal dominant disorder. Cystic fibrosis, primarily understood by me as a problem with secretions in the respiratory and GI tract, is an autosomal recessive disease. And then there are disorders when you receive more or less than the normal 46 chromosomes. Those diseases are called anueploidies.

The aneuploidies are what got me thinking. I was in the midst of reviewing (lol what else do I do) the disorders and their characteristics when I realized that these are diseases I will start seeing in the coming 2-4 years. I’m “merely” reading and studying about Klinefelter Syndrome and muscular dystrophy, but eventually I will be seeing patients with these diseases–and I’ll know the pathogenesis. For some reason that makes me feel a little more involved, as if I have a responsibility to the patient with those diseases. I mean, who else will know the pathogenesis as intimately as the physician ought to? I think that sets a foundation for the physician: that his or her education necessitates a commitment to the patient on the basis that the physician possesses knowledge that is otherwise absent. That’s what I signed up for when I entered medical school.

On top of this, I think back to my days at the clinic when the doctor I worked with would occasionally remark that genetics would become a larger part of medical practice in the future. I definitely see that happening since the subject is so relevant and the techniques for screening and visualization have great utility and will certainly only advance further. This, of course, then opens the door of medical ethics which, given my background in Theology, is an interesting subject that I would like to be able to have a deep and educated opinion about. I know that having this information about genetics and inheritance patterns will certainly influence some individuals in their family planning. Should it?

Obviously a disease is something we all want to avoid. Further, there are some genetic diseases which do not allow for good chances of survival beyond a year such as Edward Syndrome (prominent occiput, CNS and heart defects, <5% survive beyond one year). Given the ability to counsel a couple on the chances that their child might have a genetic disease, shouldn’t we provide the service? I’m unopposed to providing the service, but I am hesitant about the implications of the service. People can draw up the “genetic breeding” and revive the “Aryan race” sensationalism, but I’m more concerned about what this indicates about our capacity to love.

Parenting is tough, and I imagine it only becomes tougher when your child has a disease. Yet, I don’t think that should change our capacity to love our children. If a parent’s love is contingent on whether his or her child is healthy or diseased, then I think it is no longer love–it becomes a want. A child becomes something selfish for the parent. However, I also do appreciate the transparency and honesty of parents who admit that they don’t think they could invest themselves into raising and loving a child with a disease. That’s honest, that’s where they are, and we should not measure judgement on those individuals. I’m only sharing a concern for what our collective capacity for love could start to become.

So, in the future, could genetics become a milestone for humanity? Will it eventually lead us to an ultimatum of sorts? It could mean that eventually we’ll be able to decide who we want to love. But that’s when love ceases to exist. I think there’s some component of love that requires imperfection: “It is not the healthy who need a doctor, but the sick.” If everything was what we wanted, how would we demonstrate love? It’s almost like love is apophatic, but that’s only part of it. If I ever decide to have a child, I’m sure my mind will wander back to the first weeks of OMS-I when I memorized the aneuploidies, microdeletions, and inheritance patterns of genetic diseases, but I hope that won’t change how I love.

Kobe System Level 6

Evolution is a weird thing to experience.

The cello was relatively new to me at age 10 and I was still preparing my sheet music by writing the note names above the notes themselves. Then, one night about 15 years ago, I distinctly remember going to bed and then waking up the next day and realizing I could interpret the symbols on the staff lines at orchestra class. It was an epiphany.

When I entered high school, I decided to come out for track and field. My decision was primarily motivated by Liu Xiang’s 110m hurdles race at the Athens 2004 Olympics. This was the first time I had ever really enrolled in organized sports, so practice everyday after school and even the idea of staying in shape during the offseason (which I didn’t do) was new to me. I always died on the first day of practice during warmups because I was out of shape. On top of that, I struggled as a new hurdler for two years before I could 3-step. 3-step, for hurdlers, is a huge milestone because that is one of the most important things in hurdling progression; it means that you take 3 steps between each hurdle which means you minimize the time spent between each hurdle and efficiently maximize your speed between hurdles. Beginning hurdlers usually take 5 steps between hurdles which is what I did for my entire freshman year. My sophomore year I cut that down to 4 steps which meant I changed my lead leg each time over the hurdle. By the end of my sophomore year, I finally reached the 3-step milestone and finally felt like I could call myself a hurdler.

This past week I completed my first week of medical school. You’d think it would be a milestone in my life like reading musical notes or finally 3-stepping hurdles, but, except for the “Aha!” moment which I describe below, it really wasn’t all that remarkable to me. Following my little story, I’ll throw out a few notes and thoughts on my first week in school.

My “Aha!” moment, when I realized that I was the “same animal but a different beast”, was when I was preparing for my Embryology lecture. I had no idea what Embryology entailed. In fact, I was surprised there was a textbook on the subject. All the more, I literally skimmed over meiosis and all the reproductive stuff I had to learn for General Biology. But, as I learned after skipping studying the entire Physics section on the MCAT on my first attempt because I didn’t like Physicis, I can’t skip subjects in medical school because I don’t like them. So I set up camp in Auditorium 1 and taught myself some Embryology.

It took me maybe 2 hours (still debating whether that was too long, but it was really helpful) to read through 1.5 chapters worth of cleavage, blastocyst formation, gastrulation, neural tube development, and the determinations of the germinal layers. I had no idea what these things were prior to Tuesday night. However, as I slowly traced myself through each step in prenatal development, things started to click. I was finally beginning to understand how each of us evolved from a single cell into an organism that is essentially a series of tubes magnificently enclosed together. Everything came around full circle (literally) when I realized that the amniotic cavity becomes the amniotic membrane. That was my poetic “Aha!” moment, when I realized I was in medical school and had reached Kobe System Level 6. I was a different animal and the same beast. I was the kid that couldn’t read bass clef or 3-step hurdles, and now I’m studying medicine.

• We received our ID badges that label us as OMS-I and Student Physicians. We’re “officially” medical students. For some reason I forget this, that I’m being given the privilege to study medicine. It really just feels like college again. I study a significant amount more than I did in college–literally until my bedtime (my soft bedtime is 11 PM)–but I’ve surprisingly made enough time for some low commitment extracurriculars such as Bible study, church, soccer, and maybe even a little CS:GO–none of which occupy more than an 1.5 hours of my day. I’m hoping I can also regularly run in the mornings (because you either have to run really early or in the evening down south lest you desire to run in 95 degrees) and rotate soccer, ultimate frisbee, and basketball each week.
• Although most of the introductory lectures were of subjects we all had studied extensively previously, the lectures literally covered a few weeks or months worth of undergraduate classes in one hour (Body Compounds, I’m looking at you). We had an awful 7 lecture day on hump day in which my attention was nonexistent for the lecture after lunch and then began to slough off around lecture 6. I can’t wait for more of those days /s
• I’m doing pretty good with my meals. I prepare a meal for the week on Sunday, and for lunch I’ve been packing either rice, pasta, or a sandwich. It’ll get boring eventually, but hopefully I can find some interesting recipes. I ran across a recipe for a Thai Steak Salad which looked interesting, but I’m not convinced I could make a sustainable amount at a reasonable cost for the week. I also already went through a bag of Sour Patch Kids which is my study food.
• A classmate and I were paired with our mentor, an OMS-II. The mentor program is representative of the collegiate atmosphere at my school. The second year class has been incredibly friendly and gracious; they want us to succeed. For some reason I thought the classes would be segregated just because we’re naturally at different stages of school, but this has not been the case at all. I definitely want to pay this forward when I reach second year status.
• We met our “first patient” (i.e. cadaver) on Friday. For whatever reason that wasn’t remarkable for me, and I’m guessing that was because I generally hate labs (undergraduate Chemistry labs, I’m looking at you). However, as I’ve been studying this past weekend, having dissected the muscles, nerves, and arteries is actually helping me retain some of the information I need to know for anatomy. I get to dissect next week, and I’m not really looking forward to it.
• I’m using OneNote to take notes, and the program started to poop on me on my second day. This, of course, is all exacerbated by the fact that I chose a Mac book Air instead of a Windows Dell laptop. So, first, I’m trying to do cross-platform work with my Windows desktop and Mac book. Second, OneNote on Mac has a reduced feature set so I can’t do a lot of the useful things on OneNote on my Mac. And lastly and most importantly, my notebooks in OneNote wouldn’t sync from my desktop to my Mac book, so I spent my an extra hour on Tuesday night making sure I had slides prepped to take notes on for Wednesday. I wasn’t happy about losing that one hour over a technical problem. I like the design of the Mac book–especially the gestures on the touchpad! But I hate how I have no intuition on organizing folders, saving documents, and other things I deftly maneuver on Windows. I’m seriously thinking about dualbooting Windows, but I’m going to wait until Windows 10 has been around for a little. But then I have to find out if Mac will support Windows 10, and my biggest worry is that will take a significant amount of time out of my studying. So, maybe I can hope this system with OneNote lasts me until Thanksgiving?