Hi, my name is Sara and I’m an a**hole. Or am I? I’m not sure.
I have spent the bulk of my life feeling un-heard and un-seen, trying to do and say the things that I believe others want me to embody. But I don’t. I have always felt ‘different’ than others and wondered how I can just naturally be more like them. It has taken me 36 years to learn that I don’t have to enjoy what others do. I can relish in being me. And if they don’t like me, then that is their loss. Side story, my niece told me the other day that she really liked to talk. I told her that was great and that if she ever found people that didn’t want to hear what she had to say, she should find new people. Life is too short trying to convince people to like you that will never like you because of who they are.
I find myself oddly sitting on a balance beam, reflecting on my life. On the one hand, in my career, I do quite well. I feel appreciated for my skill set and uniqueness. I feel heard, I feel seen and I feel understood. However, my personal life feels like a foreign land to me. I cannot really talk about my career because most don’t understand it. I feel totally incompetent at every day tasks. I don’t feel like motherhood came naturally for me, at all. The way that others treat me makes me feel small. It makes me feel like I don’t have a place in it. People seem to have some need to highlight to me everything I don’t know. Probably because I try to tell them about the things I do know and that makes them feel small. I don’t know if I am the a**hole or them. I also don’t know how to be anyone other than who I am. And that’s all I want to be now.
Who am I? I’ve spent the past 25 years trying to answer that question. I’ve wanted to be a genetic counselor for as long as I can remember. In 7th grade, Mr. Minogue showed us a video in class. It was Lorenzo’s Oil. It was a movie about a little boy with a rare, x-linked disorder called adrenoleukodystrophy (ALD). The hallmarks of this disorder are defined by an accumulation of very long chain fatty acids (VLCFAs) which damage the myelin sheath which surrounds our nerves, protecting them. Without the myelin sheath, children with this disorder slowly lose their abilities until they are no longer able to survive. Like many, rare, genetic disorders, this is devastating to families. In the movie (based on a true story), Lorenzo’s father Augusto Odone challenges his mind to come up with something to stop to the accumulation of those VLCFAs, which came in the form of oleic acid. He pushes the scientific community to produce an oil that can now be used to prevent severe symptoms in boys diagnosed early. At the time, I thought, I want to be that person who helps those patients and decided that genetic counseling was the answer. Over the years, I changed my mind between MD/PhD, molecular biologist, geneticist, etc. In the end, I thought genetic counseling was right. I wanted to help people understand and solve their genetic disorders. What I didn’t realize at the time, is that I was inspired by the parent in that story. The man that would not stop fighting for answers. I wanted to be Augusto Odone. While the story of Lorenzo is incredibly heart breaking. There is also an incredible message of hope. The answers are here, we have simply yet to solve them. We need communication, we need collaboration, we need people full of heart connecting the dots. That is who I am. I’m a passionate dot connector.
Am I am empathetic person? Yes. Am I an effective communicator? to lay people, it requires much effort. Do I want to help? Also yes. Why then was genetic counseling the wrong career? Genetic Counseling is an amazing career. It provides the opportunities to make real changes in this world. But it also comes with significant challenges. Like many female driven/dominated careers, genetic counselors are under-appreciated, under-paid and they often have to work with Drs whose egos do not match their abilities. Did you know in the early 2000s genetic counseling was statistically the most challenging graduate program to get into? You would think medical school would be harder, but alas, we are more selective in who becomes genetic counselors. But why? That seems odd for a 2 year masters degree that barely provides a livable wage. Because it is the career of choice for women in genetics that don’t want to be doctors or PhDs. There are many more applicants than spots (at that time, think bottom of an exponential curve, hopefully has leveled). And I cannot say that I applied to genetic counseling because I was discouraged from getting my PhD. My genetics professor in college suggested PhD was a better course. The PI that I worked with at Duke also suggested I should pursue a PhD. I never felt that was the right fit. I thoroughly enjoyed all of the laboratory techniques I learned under the auspice of Dr. Bagnat, but ultimately, that was not my passion. I have always wanted to understand cancer better. A fascinating microcosm of evolution, cancer hijacks our DNA pathways leading to undesired growth and destruction. I’ve always wanted to understand how.
I spent two years working as a genetic counselor, sort of. I did not do any traditional genetic counseling, but I did work with patients with hereditary pulmonary diseases, alpha-1 antitrypsin deficiency and cystic fibrosis. During that time, my father was diagnosed with small cell lung cancer which took his life 3 weeks later. My experiences with healthcare during that time were eye opening. His doctor told him he had metastatic lung cancer that had spread to his liver (and once it hits your liver, it’s everywhere). He did not tell him his prognosis. He had to wait the 2.5 weeks to his referral to the oncologist where his only question was, can I still drink? The oncologist who had done a fantastic job explaining to my father that he was dying and there was nothing we could do, was speechless. I turned to my dad and said “he’s saying it’s a moot point, dad.” Those may have been the last words my father understood from me. We went home and prepared for him to die. I told him how much I loved him and that I knew he felt he had not been a good father to me, but that did not matter. I was happy and I would be OK and would take the good he taught me. That it was time for him to rest. He never spoke again. Once cancer attacks your liver, and your body can no longer process toxins, it causes a type of dementia known as hepatoencephalopathy. As a a genetic counseling student, I had read that word. But you do not understand until you witness for yourself. To see your parent go from speaking to just staring and looking confused within a matter of minutes, is like watching a wall that has stood for 63 years crumble. It is breathtaking to see the true limitations of our bodies that way.
I have been fascinated by the fact that molecules smaller than the tip of a pen (many times smaller). Something smaller than we could ever see with a microscope, can provide the instructions to tell our bodies how to grow from one cell, to two. To a mass of cells that invaginates and creates a tube. That tube then becomes our body (mouth to anus). As these amorphous cells slowly but surely take on structure and function, genes and their regulation drive the entire process. It is beautiful and nearly flawless and amazing. I am amazed by this the same as you might be staring at a waterfall. This process has been crafted by an imperfect process called evolution. The problem with evolution is that it is not forward thinking, it only selects from what is present. Darwin, when he wrote about his finches, had identified an amazing population of birds that experienced significant changes in their environment each year which led to rapid evolution. If it was a wet year, then the seeds were too big for the small beak finches to open and they died. Those that survived, reproduced and the next generation of finches had larger beaks. That is how evolution works. Only the strong survive. And when they survive to reproduce, the next generation is enriched with their genes. But this process is imperfect, perhaps those birds had some other disadvantage that would be selected against by nature in the future. The point is that evolution cannot choose for traits, only against those that do not help us reproduce. The goal of life is to reproduce. If you do not pass your genes on, your fitness is 0. If you have children, or even your siblings have children, then your fitness increases with the more genes you have passed on to the next generation. If I could talk to one person today from the past, I would bring back Charles Darwin. I said that in an interview in college once. I would love his perspective on our current ‘evolution.’ Every generation is ‘better’ than the last. Each generation learns from the pasts mistakes. It seems our generation has 2 foci to improve: mental health and cancer research. At least, that’s what my life is focused on improving for the next generation. I hope you will join me. For this is who I am.
MumGene 