Perfectly Imperfecta

Being a 20something can no longer be considered "young." People like to tell me that I am "so young, you have a lifetime of opportunities ahead.." while this may be true in some aspects of my life, it is definitely not so in the areas of medicine and science.

Science happens faster than a blink of an eye. Right now, a scientist or 'lab geek' somewhere might be handling micro-organisms that will have an impact 1,000 times its actual size. The rate at which medical advancements happen can mean the difference between an early 20something in a wheelchair vs. a child of 7 or 8 who runs freely. Those two individuals were diagnosed with the same genetic condition, the same form of the condition, presented with similar fractures at birth, and yet because one was born ten years earlier she got the benefit of time and learning on her side. As I'm flicking through pictures on various O.I. groups on Facebook, there are hundreds of examples of what I just described. This is not the stuff of science fiction or made-up case studies that medical students pour over, it's real life!

Evidence of the enormous difference between ten years of science doesn't even need to be revealed between two people, I have proof of this right on my own body. In third grade I had my first rod operation on my right tibia; since I was still growing at the time my orthopedic surgeon inserted a K-wire along the bone. After the operation I had scar tissue along my front shin, the pale pinkish scar was like one of those garden vines that grow along fences - mine snaked along the path of my formerly bowed tibia. About ten years later I was graduating from college and had the procedure done on my left tibia. Except this time I was no longer growing. The surgeon inserted screws, a metal plate, and a rod into my left tibia - there were several osteotomies done and the operation took almost 5 or 6 hours. Despite all the hardware that went into my leg ten years later I was out of the hospital in two days. I resumed normal day-to-day life routines in about three days, and was out of the full leg cast in about three or four months.
The point is not how quickly I pleaded to get up and about again, but when my cast was taken off the scar tissue was barely noticeable. Not only that but it was straight - ramrod straight as if my surgeon had made the incision with a ruler. I'm sure he didn't actually use a ruler, but I was amazed at the difference between ten years on my legs. Precision, accuracy, healing time, managing other risks, and the cosmetic impact post-surgery seemed to have evolved right before my eyes!

If you were to ask me whether or not I'm envious of those young'uns who are running about now with O.I. type III, my answer is hell yes! Of course I am jealous of all that they are able to do and the childhood that they are able to experience because of their abilities! But I think that this is all a part of the cycle of life... or something of the sort. We are supposed to be getting older. Younger generations are supposed to be 'better' than us. I am just grateful that science is making improvements for others, that progress is being made for those who were told that we would never live past two. I guess I'll just have to accept all of that with some amount of grace and amused cynicism :-)

In the mean time I'll be practicing my 'grumpy old person' voice:"When I was your age I had to carry my x-ray files back to the doctor after the x-ray in a gigantic folder that weighed 40lbs! So quit the cryin' or I'll give ya something to really cry about!"

"A Different Perspective" will feature posts from those who are close to me. I thought this would be a great way to let you guys 'meet' people in my life and get a glimpse of the people who make me who I am today! This post is written by my older brother, he is currently a pediatric resident at Children's Hospital in Boston.

The heart monitor reads eighty-nine, beeping softly in the dark room. Sandy tries to turn to her left, but the cast on her right leg inhibits her movements. Only seventeen, my sister has endured more hardship than most experience in a lifetime. Born with the birth defect osteogenesis imperfecta, or OI, she has undergone multiple operations and bouts of physical therapy in attempts to strengthen her frail bones and underused muscles. Scientists believe that mutations in DNA encoding genes in charge of collagen formation are responsible for the disease. On this occasion, Sandy is having surgery to replace the metal rod in her leg that two days ago broke through skin and resulted in an open wound.

When I was younger, I would ask my mom questions like "what's wrong with Sandy?", "why is she still at the hospital?", and, the one that upset her the most, "why can't the doctors make her better?" Foolishly, I grew up convinced that the physicians who worked with my family weren't good enough or smart enough to know how to 'fix' my sister. I set out to become a better physician than those who had failed before me. As I grew older, however, I learned of the boundaries of medicine, and how science limited the treatment options available to the orthopedic specialists. By high school, frustrated with the lack of knowledge and choices for treatment in the field, I had abandoned all hopes and dreams of becoming a physician. My family and I had heard enough of their supportive words, their "we'll see what we can do's" and "we're doing all that we can's". Nothing they did seemed to make her pain go away or cure her of her disease. Instead, I aspired to become a researcher.

After high school, instead of attending an accelerated medical school program, I entered MIT, the research institution where I believed I could address this deficiency in information. Enrolling in the biology department, I sought to learn as much as I could about biology and human disease, both its latest advances and its ever-present limitations. As a freshman, I joined the Horvitz lab to study C. elegans and genes governing apoptosis. The following spring semester, I moved on to the Yaffe lab to examine proteins in the DNA damage repair pathway. This past June, we published a paper on the tumor suppressor BRCA1 and the effects of cancer-causing mutations in these domains. Yet, as much as scientists work to understand the body and its function, there remain people greatly affected by disease, both so-called normal people with the common cold or flu and extraordinary individuals who fight for their lives on a daily basis.

At the beginning of our sophomore year, a group of friends and I discovered an EMT-Basic class that the student-run, fully volunteer MIT-EMS was offering in January during IAP. The prospect of helping people in need was alone enough reason to sign up, but really, who can resist driving lights and sirens in Boston traffic? In class, we learned everything in the protocols, from doing CPR to using an SAED, from delivering a baby to when to call for the medics. What thrilled us the most was the immediate application of knowledge from the classroom to the ambulance. Taking every opportunity to ride 'third,' I became a full EMT for MIT-EMS as soon as I earned my certification.

As I gained more experience, I gained the crew chief rating and was even elected personnel officer. The other crew chiefs and I volunteer an average of 24 hours a week, providing basic life support for the MIT community. When I first joined MIT-EMS, I, like every other 'baby EMT,' dreamed of racing to the scene, lights flashing and sirens blaring, where we would scoop up the injured party, pound on her chest, pump air into her lungs, and miraculously bring her back to life. As I rode on the ambulance more and more, however, I discovered the quality that had been lacking in my search for truth and knowledge in lab: a caring word and the touch of a hand for an oftentimes frightened and nervous patient. By actually spending time with patients, I learned that the role of a physician is not just to treat or cure, but also to provide comfort and care, because sometimes not advanced medicines but words are in fact the best treatment. I realized that this is precisely what the doctors and nurses did to not only care for my sister, but also care for my family in our tough times. It is these times that are often most frustrating for patients and their families, but it is also these times when the world needs doctors to show compassion and understanding in the face of inevitability.

It is 2:21 in the morning before Sandy awakens. I slowly leave my chair and walk to the bed. I smile, silently greeting her return to the world. She returns the smile, but winces as her suffering begins again. I look into her eyes and see both her relief that I am there and her struggle against the agony. Suddenly, there is a knock on the door. My father has come to watch her so I can get sleep before school tomorrow. "Hey Sandy. We're here for you." She smiles, nods, and closes her eyes to sleep.

The posts in the "Different Perspective" series are submitted to Sandy but none of the content is changed by the blogger.

Showing posts with label medical research. Show all posts

A Case of Medical Advancement Envy

A Different Perspective #2

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