As a child, Elana Simon suffered for years from crippling stomach pain. Yet despite trips to multiple specialists, her pain remained a mystery.
"Nothing seemed to be explaining why I was having these problems," Elana told NBC News' Ann Curry.
Then, at age 12, Elana's bright future hit a terrifying hurdle when she was diagnosed with a rare form of liver cancer. Her parents knew nothing would be the same. "The moment that I heard those three words, fibrolamellar hepatocellular carcinoma, were life changing," said her mother, Rachael Migler.
What they didn't know was just how their lives would be changed — that Elana would not only recover from the cancer, but embark on a journey of scientific discovery that would lead her as a New York high school student to make a discovery so cutting-edge it was published in a major science journal.
Research on Elana's type of cancer, commonly known as fibrolamellar, has been limited. Experts estimate that roughly 60 cases are diagnosed annually in the U.S., mostly among women under the age of 35. For many patients, the prognosis is grim, with about 32 percent surviving five years after being diagnosed. In many cases, symptoms don't appear until the cancer has already spread.
"There was very little understanding, there's still very little understanding of hepatocellular carcinoma across the board," said Elana's surgeon, Dr. Michael LaQuaglia, Chief of the Pediatric Surgical Service at Memorial Sloan Kettering Cancer Center.
Courtesy of Simon family
Elana Simon in the hospital after her fibrolamellar tumor was removed.
But Elana Simon was born into a family of scientists, and her instinct was to ask questions. Her mother is a trained biologist and her father, Sandy Simon, an esteemed biophysicist at Manhattan's Rockefeller University.
"I've been lucky in that I grew up with one of these scientists, and so to me it seems completely normal to, you know, pursue a research question that you have," she said.
Elana was doing research for a high school internship when she had the idea to genetically sequence fibrolamellar. She realized that the quest to find a cancer-causing mutation is incredibly complex, especially since many mutations are often due to age alone. "I thought, OK, well, if over time you keep getting more and more random mutations, wouldn't you rather just study something that's younger but it's gonna have less of these random background mutations?" Elana explained.
Elana approached her surgeon with the idea and asked him for help. Together Elana and Dr. LaQuaglia reached out to patients across the country for tumor samples.
Elana also worked with the Fibrolamellar Cancer Foundation to put together an outreach YouTube video for other patients. The video worked. "We've had people contacting us and saying, "Hi, I found your video online. This is incredible. What can I do to help? How can I get you my tumor?" she told NBC News.
Fifteen patients sent fibrolamellar tumor samples as well as adjacent healthy tissue for the research. The next step: getting the samples to the New York Genome Center to sequence the DNA and look for differences between tumor tissue and healthy tissue.
What they found was remarkable. A genetic mutation caused part of one gene to attach to part of another gene creating a unique protein, called a chimera. This chimera was present in all 15 tumor samples.
"We found is there's one key that was broken in each of the  tumors and that key turns out to be something that nobody has ever seen before and is probably crucial in driving Elana's tumor," said Dr. Robert Darnell, who headed the team at the New York Genome Center.
In this unusual collaboration with physicians, geneticists, and computational biologists, the 18-year-old co-authored a study published in the prestigious journal Science in February.
Darnell of the New York Genome Center characterized the finding as part of an emerging field of patient-driven science.
"This was really a great example of a single patient-driven project." he said. "It will help drive the science and I think even help drive the pharmaceutical companies to focus on a new kind of target that they haven't thought about before."
Courtesy of Simon family
Elana Simon with Tucker Davis, founder of the Fibrolamellar Cancer Foundation.
There are other unsung heroes behind Elana's efforts. The year after her surgery Elana met a boy named Tucker Davis at a charity event for fibrolamellar. Davis had fibrolamellar and knew he was dying. Elana remembers a conversation when he told her he felt he got the cancer because his parents have the money to help make a difference.
"I kind of realized that that's probably why I got it too. Not because we have the money but because, you know, my dad's a scientist." Elana said. "And I have the resources to potentially make a difference too."
Tucker died at 28 years old in 2010 but before his death, Tucker founded the Fibrolamellar Cancer Foundation, dedicated to raising awareness, funding research and establishing a community for this rare and deadly disease. The foundation built a lab at Rockefeller University where the research will continue. A plaque outside the lab bears Tucker's name.
Elana and her father say though their results are promising, more research needs to be done to confirm that this "chimera" is responsible for fibrolamellar. They have begun to make progress in the direction of better diagnostic test and even potential drug treatments to target fibrolamellar based on the discovery.
"I'm incredibly proud... it kind of makes me think that the reason that this innocent 12 year old girl got this cancer was so that she would go on and do this work," her mother Rachael said.
Elana, also a talented actress, dancer and acrobat, plans to attend Harvard in the fall to study computer science. She says she is grateful.
"It's just incredible that the research that all started just because I had cancer could actually go potentially help other people. That's — that's amazing. It makes me feel like, you know, it was so lucky."
Dr. LaQuaglia, Elana’s surgeon, says there’s a bigger message to be taken from Elana’s research. “The real tragedy in the present moment is the fact that research money from the federal government is getting cut,” he said. “We have such advanced biological and biomedical research techniques that we can do things like this very quickly and I think we can impact not only this disease but other diseases.”
Elana sees hope for other cancers, too. She says this collaborative effort could serve as a model for other cancer groups.
"It can be the patients who themselves can try to make a difference in their research," she says.
First published April 16 2014, 2:03 PM