To Dennis.

 

“God, give me the serenity to accept the things I cannot change,

the courage to change the things I can,

and the wisdom to know the difference.”

 

You know that moment when an earth-shattering realization crashes into your body, and for a split second everything becomes still and quiet as it washes over you? Well, that was how I felt for three straight days.

I had the opportunity this week to be gathered with some of the leading minds in medicine and science, and with Li-Fraumeni patients from around the world. Here are a few moments that have changed my life forever:

  • I was laughing and wearing a silly hat in a photo booth, staring into a flash with my arm around the first Li-Fraumeni Syndrome (LFS) patient I met at the conference. She was only the second LFS patient I’ve ever known, and she stole my heart. She was 13 years old. Her bright, eager spirit poured out of her as she told me about her dream of being a professional horseback rider. I was baffled at the wise soul packed into such a tiny body. I knew from the medical literature that the odds were against her: at age 30, she had a 50% chance of already having developed one type of cancer. Many patients go on to develop 5+ different types of cancers in organs all over their bodies, and rarely survive past the age of 70 due to a mutated gene in their DNA. I sat closer to her, hoping for some sort of osmotic exchange: to soak in some of her resilience and fearlessness, while giving her all of my strength and admiration.
  • He was a large, burly man who poured over the tiny chair he sat in at the dinner table, and I will call him Dennis. When his daughter was 10, his wife died from cancer Only 3 months later, her brother also died from cancer. For 6 years, Dennis clung to the last living part of his family he had left as tumors continued to pop up in her tissues. He watched her transform over the years: her leg was cut off, a chunk of her pelvis removed, and cement was poured into the empty cavities left in her bones. He smiled as he recounted her fighting spirit, telling us how they flew to Seattle to fight her leukemia with a bone marrow transplant. Just a few days before surgery, they ordered a CT scan. I realized that his heart was as big as he was as he described crawling into her hospital bed with her when he saw the doctors’ faces arriving with the results. His giant fingers wiped his eyes and his voice broke as he said, “Her scans lit up like a damn Christmas tree.” She died 3 days later and donated her body to science. If I was Dennis, I would have run far away from from anything remotely related to the pain of LFS and never looked back. Yet here he was, sitting among a room full of people with the condition that stolen his family. He told us that he wanted to make a difference for someone else somehow. If only he knew what a difference he really made in me.
  • One night I was chatting with two incredible minds, a cricket from Wisconsin and a crinkled man from Boston, when I scanned the others seated in the dimly lit lounge. I recognized most of their faces as LFS patients and families from the conference earlier, and it plucked a nerve that stilled me like a long wavering note. Had it been any other circumstance, I wouldn’t have thought twice about the scarfs wrapping their bald scalps or the veins clearly outlined in their thin arms. In a handful of decades, chances would have left only us three sitting by the bar. That night, I remembered that we are just human beings trying to help other human beings.
  • Oliver Weiss, a famous soccer coach who had also been diagnosed with LFS, paced the stage and voiced the conversation he was having with himself: “We’ve known about this condition for 40 years and what have we done? Sure, we screen the few people that we find with the gene mutation in, but we are still missing people out there. We have no cure. We have no targeted therapy. We have no way to prevent it. And I know you’re all working very hard and I’m grateful for that, truly, thank you. But I just lost my last child to this and..”. He grabbed onto the podium with both hands and stared at the floor for a long time. When he finally looked back up at us, the lights shimmered on his eyes. “It needs to go faster. We’re still dying.”
  • My mentor was telling a woman with LFS about my research developing a new liquid biopsy screening method for LFS patients. She turned to look at me and grabbed my arm, her eyes piercing mine with surprising steadfast intensity despite the empty wine glass in her hand. “Listen to me,” she said. “When you work overtime or you get frustrated or you want to quit, you remember me. I won’t quit if you don’t, do you hear me? You remember who you are helping and you remember that what you’re doing matters. It ”
  • I was staring blankly at the stage, lost in a train of thought about all the wasted time and money in research. I had been remembering a time with a friend of mine who worked in a medical research lab. I laughed and actually fought a tinge of jealousy when he had told me how he spent all day getting paid to watch Netflix. Then I reminisced on the group dinner the night before, which was unquestionably paid with department funding. Clapping snapped me out of my trance, and I began listening to someone explain how they were finally able to mimic osteosarcoma in mice. I found myself angrily wondering – how long did that take you? Because I’m sure there were 50 LFS patients who had died with remarkably authentic osteosarcoma tumors in that time. How did your work help them? Are you focused on the root of the problem, or are you filling in blank spaces far in the periphery? Is it really necessary to spend years to know the exact amino acid in a rare sequence of non-coding DNA, or the exact calculations to determine that there is a 10% false positive rate in cancer screening? Great – so those patients have a cancer scare, undergo further testing, but later find out it was a test error and they are actually cancer-free. Boy, it’s a good thing we have those numbers. I can’t help but feel guilty for undermining curiosity and the value of basic science research. But when I’m sitting around people who are stuck helplessly watching their families get obliterated, I can’t help but argue that what we must ask ourselves is: What is the impact of our research?
  • Initially, speaking with LFS patients made me uneasy. I stared at them and wondered, how much longer will this person be here? A month? A year? Are cancerous cells bubbling out as we speak, unknowingly infesting other organs until the next yearly screening? I found myself struggling to allow myself to get close to these incredible souls – afraid of the pain that might occur when tragedy strikes. Until I realized there is nothing wrong with allowing myself to connect with their fragile state. Aren’t we all just a heartbeat away from death ourselves? Yes, they are predisposed to a higher risk of cancer, but we are not so invincible ourselves. I’ve heard that coming to terms with our own mortality is one of the biggest struggles to conquer. Maybe that is why becoming close with these patients was so difficult: It held up the mirror into my own mortality. There is uncertainty in their fragility, yes, but there is also something so incredibly beautiful.

 

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