Student with rare cancer syndrome searches for a cure at CU Anschutz

Jun. 17—Elijah Johnson, a student researcher at University of Colorado Anschutz, is looking for answers to a rare cancer disorder that has no cure — a disorder that he and his family have.

Johnson is a rising junior at Colorado Christian University studying music and biology who is also involved in research programs at CU Anschutz. Johnson has Li-Fraumeni Syndrome, a rare genetic mutation that increases his risk of cancer. His goal is to pursue researching LFS as a career and create anti-cancer drugs to help treat people like him.

"I'd love to join that aspect of research and target specifically mutations in this protein that is responsible for LFS in order to improve clinical outcomes for people like me one day," Johnson said.

Matthew Witkowski, assistant professor of pediatrics at CU Anschutz, ran a lab where he worked side by side with Johnson researching LFS.

"You see someone that's in this situation and there has to be a worry that's associated with living with this syndrome," Witkowski said. "And instead of just letting it rule him, he wants to combat it by doing medical research. I mean, that's pretty special to me. I don't think a lot of people have that kind of grit."

LFS is a rare, hereditary gene mutation that increases a person's risk of developing cancer. LFS affects a gene called TP53, which is a tumor suppressor gene. Because of this, Johnson only has one functioning gene that correlates with one functioning protein to prevent cancer, instead of the two he's supposed to have.

The risk for people with LFS to develop any type of cancer in their lifetime is 90%, and approximately 50% of these cancers will be diagnosed before age 30, according to the American Society of Clinical Oncology. The general population has a 40% chance of being diagnosed with cancer in their lifetime, and only 3% of all new cancer cases are in people under 34.

The general population also can lower their risk by eating healthy and exercising, among other things, while people with LFS cannot lower their risk.

LFS is passed down from parent to child, and is the dominant gene. Johnson's mom also has LFS, as did many of their relatives on his mom's side who have since died from cancer.

For most of their lives, no one in his family knew they had LFS. Johnson said his grandmother and his mother always felt like there was a genetic reason for why so many family members got cancer and died from it.

Because LFS is so rare — it's estimated to impact somewhere between 1 in 5,000 to 1 in 20,000 families — it can be hard to get a diagnosis. Johnson's mom eventually got a diagnosis due to a lot of self advocacy, he said, after having multiple different cancers.

Johnson's mom was diagnosed with a soft tissue sarcoma at 21 and was later diagnosed with six separate growths of breast cancer at 36. Two months into recovering from her double mastectomy, doctors found giant tumors in her ovaries and uterus and did a hysterectomy to save her life.

Around the time of her second and third cancer diagnoses, Johnson's mom found out she had LFS. About a year later, she and her husband tested their four boys. Johnson, the oldest of his siblings, found out at age 14 that he and his youngest brother tested positive for LFS.

"It was upsetting, it was frustrating, it got in the way of things," Johnson said. "It made my mom sick; my mom's had three different cancers, and I was frustrated and upset by all of it."

'That takes bravery'

Over time, Johnson came to terms with his diagnosis. He became involved with the Li-Fraumeni Syndrome Association where he met friends his age from around the world who also have LFS and was inspired by the work researchers were doing to find a cure.

"If they don't even have this condition, what could someone who does, who's personally that motivated, do with them in collaboration," Johnson said.

Johnson's mom, Noelle, said Johnson's diagnosis gives him a deeper passion and drive, but that the work he does in the lab is also very heavy.

"Now that he's gotten into the lab and seen how ugly those cancer cells are and that they're not stoppable in many scenarios, it has to be very eye opening and, at times, terrifying," she said.

Witkowski said it takes a special mental strength for Johnson to research the same genetic mutation that affects him, his family and his friends.

"That takes a lot of bravery, I would say, because going to a research lab he might be confronted with some of the realities of the mutation that he was born with," Witkowski said. "That's really something that takes courage to start to try and dissect these problems in biology when they directly impact your life."

One big impact on Johnson and his family is the financial burden of the syndrome. Prevention is key for people with LFS, so Johnson, his brother and his mom get annual full body MRI's, quarterly ultrasounds, blood work, physicals and more.

Johnson said he has to be hyper aware of what his body feels like at all times and flag any changes. He said it's stressful to know he could get cancer at anytime, with any bruise, ache or pain setting him on edge.

While the emotional strain of coming to terms with his diagnosis has improved, Johnson said there's significant emotional burden from loss of family members and friends he's met through LFSA, who have died as early as 15 or 16. Despite the losses, Johnson said he's grateful for the support, community and understanding his friends with LFS provided.

"I know that the last few years of their lives and the last few years of mine, no matter how many more years I have left, have been really impactful getting to meet people like me and people who understand," Johnson said.

'I could have an impact'

While staying positive has been difficult at times, Johnson said his church, family and the LFSA gives him a strong, supportive community while his research gives him purpose.

"A lot of it has to do with knowing that one day I could have an impact on this disease myself and hopefully increase and improve treatments for people like me through my research and my career," Johnson said.

Johnson said LFS has helped his family grow closer through adversity. While the threat of cancer is real and has affected their family already, Johnson said they're thankful he and his brother have remained cancer-free.

"It (cancer) is coming for us, likely," Johnson said. "But, it's really made us appreciate everyday that we've had and really appreciate the people in our lives and the opportunities and the privileges we have."

Johnson's mom said they're fortunate the family has been healthy for the past five years now, and that their strong faith has helped them stay together and persist through tough times.

"This is not our forever home, and even if we have to say goodbye early to someone, if you have a relationship with Jesus we will be together forever," she said. "That brings a lot of comfort when things are messy."

Moving forward, Johnson is planning to pursue a doctorate degree and continue researching LFS, specifically in drug design to synthesize anti-cancer drugs for better treatments for cancers that people like him get with TP53 mutations or LFS.

Witkowski said Johnson is special in the way he used his own personal experience to motivate his research, while still approaching science in an unbiased, careful and inquisitive way. Witkowski said Johnson inspired him so much it changed how he is as a scientist and the trajectory of his lab.

"Now, 50% of our lab works on TP53, and that's because of Elijah," Witkowski said.

Johnson's mom said he'll have a spark as he continues his career that couldn't have been generated without having LFS.

"I think he will do great things in honor of people who suffer with cancer," she said. "I think he will work hard and work diligently to do that, and with fervor."