When Christian Helfrich, 4, rang the bell this summer to signify he beat his cancer diagnosis, he was surrounded by his family, his community, his doctor, and all the major Colorado sports mascots.
“When we’re going to a sporting event he’s going to a mascot event,” his mom, Melissa Helfrich, joked at the Make-A-Wish event in September.
Mascots from professional Denver sports teams were in attendance, including Dinger, Miles, Bernie, Edson, Wooly, and Rocky. Various Denver-area high school mascots and community supporters showed their support for the Helfrich family’s monumental moment, too.
“He loves mascots. His face just lit up to see them all there,” says Scott Oliver, MD, associate professor of ophthalmology at the University of Colorado School of Medicine and Christian’s doctor throughout his treatment journey.
At four months old, during the first weeks of the COVID-19 pandemic, Christian was diagnosed with bilateral retinoblastoma, a rare eye cancer that forms in the retina of both eyes and most often occurs in young children. In total, Oliver says Christian had more than a dozen tumors between his two eyes – this is common when a child is born with a RB1 gene mutation, as Christian was.
Now that Christian is in remission, his family says they want to bring awareness to the disease so that other families know what to look for to catch the cancer early and give doctors the best chance at beating it.
Melissa and Justin Helfrich first noticed Christian had a white pupil in a photo taken with a flash when he was about three and a half months old. The white pupil, called leukocoria, can serve as a warning sign that there is an ocular problem.
“With many of the patients I see, it’s actually the parents who first notice the early signs of retinoblastoma,” says Oliver, who serves as the Vitale-Schlessman Endowed Chair in Retinal Diseases. Pediatricians screen for the disease with a red reflex test, but the cancer is so rare that it can be hard to spot.
The photo that tipped off Christian Helfrich's parents and shows the white pupil, called a leukocoria. Photos courtesy of Melissa Helfrich.
Retinoblastoma affects about 200 to 300 children in the U.S. per year, according to the American Cancer Society. More than 95% of those patients are cured, but vision loss and eye removal can be common in more complicated cases.
Along with leukocoria, a parent might notice their child’s eyes move differently than normal or there’s a change in vision.
To treat his cancer, Christian underwent five rounds of traditional chemotherapy and three rounds of intra-arterial chemotherapy (IAC), which is accomplished by doctors threading a catheter through the femoral artery, past the heart up through the carotid artery and then into the artery that feeds the eye. Chemotherapy drugs are pumped through the vessel to directly target the tumor.
Only a handful of centers in the U.S., including Children’s Hospital Colorado, where Christian was treated and offered IAC.
The treatment was effective, but relapse rates are elevated for bilateral retinoblastoma, so Oliver will continue to monitor Christian.
The early days of the pandemic handed the Christian’s family and treatment team an additional layer of challenges, but Justin and Melissa highlight how attentive the staff were and how Oliver prioritized communication through the many months that followed the diagnosis.
“What he said in his speech at Christian's Make-A-Wish celebration, which I think is very impactful and the ethos of who he is, is, ‘What gets me up in the morning is getting these kids to be able to go on to live a normal life.’ That really is his goal,” Justin Helfrich says. “It's not to tell us Christian's not going to be an MLB baseball player, but to take it as far as he can take it, and Christian might have some limitations, but it wasn't relaying the doom and gloom immediately. His approach was how to find a way to do what we can for him for as long as possible.”
Oliver was able to save both of Christian’s eyes and preserve most of his vision. Catching the disease when Christian’s parents did was crucial to that mission. In addition to using a flash on a camera, some mobile apps have been developed to help parents detect white pupils in children.
“Tumors can grow quickly. Once you have one, even over just a few weeks or months it can be become quite large,” Oliver says. “If we would have seen Christian just a month or two later, his case could have been much worse. The greatest predictor of our success is how bad the disease is at diagnosis.”
Oliver stresses that parents seek out an ophthalmologist’s opinion if they feel that their child’s eyes don’t seem normal.
“The key thing to know is that in the U.S. retinoblastoma is one of the most survivable pediatric cancers,” he says. “We want parents to be aware and watch for anything funny with their kids’ eyes. We want pediatricians to know that checking the red reflex really matters, and they have a chance to make a difference with that one very quick, very simple test.”