Month: April 2014

Human Medicine

Still not done with my paper, I calculated how late I would be that afternoon. I stood in the hallway waiting for Dr. B to finish up an appointment. I checked the time and logged my hours before going to the triage room to chat with the nurses about the weekend ahead and random happenings. Before I could walk in, a little girl of about three or four walked out the rest room ahead of me. She was probably the only preschooler I have seen “sa-shay” instead of walk. She had her hands on her hips and looked back at her mom as if to say ‘hurry up!’ She was incredibly bubbly and her personality was brighter than her coordinated spring outfit, painted orange toenails and jelly sandals. Her mom finally came behind her as they went back into the open exam room. As Dr. B and I made our way to other patients, I wondered if that little bubbly preschooler would be getting shots. I hoped she wouldn’t cry.
We finally made our way to the bubbly preschooler. Dr. B introduced me and I said hello, waved at the mother and then the little girl. This little girl not only smiled, but after finally seeing through her dark brown curls, I realized even her eyelids creased when she smiled. I wondered as I usually do with the younger kids “Where will they be in ten or twenty years?” I always hope that the happy ones would remain so.
As the mother spoke quietly with Dr. B about paper work, the little girl began playing hide-and-seek. Okay, more like peek-a-boo…I could still see her but she covered her eyes so I guess I disappeared…? I usually try to pay attention to catch any information about the history before Dr. B tells me the diagnosis. My little distraction, however, made sure I was oblivious until Dr. B turned to me.
“Little E has an inoperable tumor on her brainstem. She’s here for clearance to get an MRI.” Dr. B said.
“…oh…” I murmured.
“She has been getting treatment and we need to know if it is working. From what I can tell, she has a lot more energy than before treatments began.” Dr. B said, picking up Little E and placing her on the exam table.
“Yes, she looks great!” I said. What a relief. This little girl is getting treatment. She just needs a follow-up to be sure everything is going well.
Dr. B examined her and cleared her chart for the MRI. No shots, no tears. Actually, anytime you look at this little girl, she smiles. Genuinely.
Her mother, who was just a bit more subdued than she, thanked Dr. B as I put her paperwork together. They went toward checkout and Dr. B and I went back to her office past the mural of children playing happily and caring for each other on the wall.
I walked in behind Dr. B and pulled my notes from my front pocket. I wanted to ask her more about the pathophysiology of the glioma.
“The glioma,” she began, “is in the brainstem, near the nucleus of the sixth cranial nerve. Our first clue when she presented were her eyes. When I first saw her, she was doing quite poorly. But look at her. She is in treatment and doing well.”
I thought about her ‘peek-and-seek’ play and agreed. “I see. She has so much personality, too. She’s such a pleasant kid.”
Dr. B sat at her desk, put her tablet down and turned back to me. “I wanted to let you know she is not expected to live beyond the end of the year.”
No.
My heart fell to my stomach, even if only metaphorically.
Not this girl. Not this bubbly, beautiful spirit. Not this three-year-old with a lifetime of giving smiles, laughter, and joy. No, this girl just hid her face from me and thought I disappeared. Not this beautiful, bright soul that still has so much to give this dark, cloudy world.
Not her.
I sat back, surprised at the stinging feeling of salty tears falling into the dry skin across my cheeks. I thought about why I became interested in human medicine. I thought about how depressed I was when I received a rejection and then two wait lists from medical school three years ago. I thought about how much of my life I had thought I would only be happy if I could get to this one point. Then I realized I was silently crying. With Dr. B’s back to me, I reached for a tissue at the edge of her desk. As I began wiping the tears before she could notice, she said, with her back still to me, “It’s okay. I’d worry more if that didn’t make you cry.”

Recessive Desire

Autosomal recessive EN
By Aymleung (Own work) [CC-BY-SA-3.0], via Wikimedia Commons

I have a desire to get married and have a family. As a (younger) adult, I wanted four children and a family like the Cosby’s. I did not want to compromise this desire. I also didn’t share this desire aloud.

I cannot hide behind this screen and tell the world that this is some unselfish dream. Just reading those first sentences, there is an air of immaturity and selfishness behind my desire for a family. For some of us, this desire becomes selfish when unchecked and misunderstood. It leads to selfish actions. We end up with selfish motives entering our relationships. Yes, I went there. The word packed with sting, selfish.
It is purely a want and desire that I see as something to benefit and satiate a yearning within my heart. Children that have my genetics. A husband that loves me. A family of my own. Even in the wrappings of nice and sweet terms such as “sacrifice” and “submit,” the desire is intrinsically selfish.
I saw how selfish this desire was when (after nearly [x] years away from dating) I was asked on a date (…yay?). I don’t “date” in the Western term of the word: we will casually form a friendship and watch how things go from there. No use “jumping in” a relationship for the sake of having one…
So, there we were, getting to know each other and the topic turned to my career field: biology. More specifically, the field of genetics. Genetics and biochemistry. Genetics, biochemistry and diseases (I’ve been in school too long…).
I carry an autosomal recessive genetic disease. In its homozygous form (that means you have two copies of the gene) it is a severe, painful and deadly disease. It is painful to watch and painful to have.
And I can pass this disease on to any children I have with another carrier.
That is inheritance.
That is (basic) genetics. I carry it and my mother carries it. My mother didn’t know she was a carrier when she met my dad, married him, and had her little bundle of baby test positive for this genetic trait. She always says how lucky she was that my dad was not a carrier as well.

Yet, I know I am a carrier.

And so is he.
This is not new information. You see, he told me this in the eleventh grade. He then mentioned it again about two years ago. And again last year. Each time is as if this is the first time he is giving me this information. We have discussed marriage. We discussed children. We confront the same information: What decision do we make with this information being known to us?

There is a 25% chance of having a child with both copies of the defective gene.
There is a 50% chance of having a child with one copy of the defective gene.
There is a 25% chance of having a child with two normal copies of the gene.

In that Cosby family, one child would theoretically suffer due to our selfishness.
Theoretically…

“Theoretically” leads to two overly simplistic responses:
“Don’t trust genetics. Trust God.”
“God gave you this insight into the genetics and this revelation for a reason.”

There are wonderful qualities to this person. Yet, this is the information we were given well before the idea of romance entered our minds. [X] number of years without dating aside…could there be someone else who is not a carrier for both of us? Information and insight given for a reason?
In this light, how selfish to ignore this information and move forward. It seems these are not questions another human can answer…