Cooper Norris is almost 9 years old. He’s 4 foot 4 inches tall, weighs 60 pounds, and has a haystack of sandy brown hair that flops in his eyes. Cooper loves video games and Harry Potter and “Star Wars,” and he loves-loves-loves dogs — more than anybody else in the whole wide world and he’ll bet you $100,000 that’s true and yes he’s got that much money too just ask Mom.
Cooper turned to Kirsta Scherff-Norris, beside him on the couch at their Rockrimmon home, for breathless confirmation. “I do! I do!?!”
“No you don’t, bud,” said Kirsta, laughing and rolling her eyes. “Not even close.”
Some concepts, like finances, like health, are too abstract for a kid of almost 9 to really wrap his head around. And that’s a good thing.
When Cooper was 4, he was diagnosed with type 1 neurofibromatosis, a rare, progressive and debilitating genetic disorder that causes tumors to develop on the sheaths of nerve tissue. While most NF tumors — about 90% — are benign, depending on where they’re located, as the masses grow they can lead to a range of symptoms including pain and bone deformities, breathing problems, high blood pressure and neurodevelopmental issues.
“When he was diagnosed, he certainly didn’t understand what was going on. We just called it his ‘bumpy.’ We didn’t say, ‘You’ve got a tumor growing on your vagus nerve,’” said Kirsta, who’s 47. “We just want him to be a kid for as long as he can, and not have to worry about the heavy stuff.”
Thanks to years of aggressive advocacy by the family, a national nonprofit foundation and federal protocol that lets patients in dire need get early access to promising experimental drugs before they’ve hit the market, at least one of those “grownup” conversations is now easier for Kirsta and her 49-year-old husband, Michael Norris, to have with their son. Though it’s considered a rare disease, present in about one in every 3,000 births, neurofibromatosis is one of the most common inherited neurological disorders, with about half of diagnosed cases showing a family history. Like his 16-year-old brother, Tatum, Cooper is adopted, so it’s unknown whether he falls among that demographic, Kirsta said.
In Cooper, the subtle signs began to manifest when he was a toddler, in tell-tale patches of freckling along his neck and back as well as collections of larger blotches known as “café-au-lait” spots.
Then, a lump — first palpable, then visible — appeared on the left side of his neck.
At first, Kirsta said Cooper’s pediatrician thought the lump might be an infected lymph node and prescribed a course of antibiotics. When the mass didn’t respond to the meds, an ultrasound showed it was a tumor growing along the nerve that interfaces with the brain to control autonomic functions including the heart, lungs and digestive tract.
Because of their location along nerves, almost all NF tumors are inoperable. Worse, as Kirsta and Michael learned in 2016, there were no FDA approved treatments to shrink or slow its growth.
A “wait and see” approach was their only option.
“There are so many different things that can arise as a result of NF,” Kirsta said. “Month to month, you could just see it getting bigger, and just not knowing what the first thing, the first organ, it’s going to affect would be….”
Kirsta and Michael weren’t “wait and see” kind of parents. But they tried.
The tumor, however, continued to grow at an alarming rate.
“There’s also the social impact of having a disfiguring tumor on the side of your neck and your jaw,” Kirsta said. “It was growing so rapidly. People who hadn’t seen him in a few months, teachers and family members, were noticing it.”
Cooper complained he could feel it when he was fighting to fall asleep, or riding his bike and turned his head to check traffic up the street. It hurt to tug on his bike helmet.
It hurt to be hugged.
The scariest part was what they couldn’t see, and Cooper couldn’t yet feel, though.
The tumor originated in Cooper’s neck, along his vagus nerve, but MRIs showed it had expanded along his jaw, and to his spinal cord and his chest, where it was growing along his carotid artery.
As Cooper’s seventh birthday approached, the tumor was doubling in size every 18 months and increasingly posed a threat to his airway.
“That’s when we knew we had to take that next step and become advocates for Cooper to find him the very best care and explore all the options that were out there,” said Michael, an elementary school music teacher who, in 2016, left his previous career in school administration, in part, due to the demands of his son’s appointment schedule.
He and Kirsta found a Denver-based geneticist who specializes in neurofibromatosis and suggested they enroll Cooper in a clinical trial for a new experimental drug called selumetinib, the first ever for NF.
Cooper wound up not being accepted into the trial, but was able to access the drug through “compassionate” use, a special protocol that makes promising experimental drugs available to patients who meet certain criteria. It’s how, earlier this month, President Donald Trump was able to receive an experimental COVID-19 drug from Regeneron that’s currently moving through the FDA approval process.
Cooper was the first pediatric patient in the Denver and Colorado Springs area, and among the first in the country, to begin treatment with selumetinib, in late 2018.
Within three months, an MRI showed his tumor had not only stopped growing, it had started to shrink. The size of NF tumors is measured by volume, and after six months of taking a series of oral, daily doses, Cooper’s tumor had diminished by more than 21%, dropping from a volume of 56 ml to 44 ml.
Kirsta helped explain what was happening inside his body by measuring out water into two shot glasses. She said, “This is where you were, and this is where you’re at now.”
“I think that helped him understand what was going on. He understands that he’s got a tumor, and it’s still there, but you take your medicine so it doesn’t get larger and affect your life, basically,” she said.
Cooper isn’t the only one who’s been enlightened — about how bodies, medicines, and the medical system, work. Their son’s diagnosis opened Kirsta and Michael’s eyes to what it means to have a “rare” disease in America, and to a fight that is often one waged below the radar, and against the tide. At every level.
“It’s not like creating a treatment for heart disease or breast cancer or COVID. There’s a smaller group of people who will benefit, so there’s not a lot of research funding going into it and that makes for a vicious cycle,” Kirsta says.
Early research funded by the nonprofit Children’s Tumor Foundation was the first to discover that selumetinib, previously an experimental cancer drug, could significantly affect tumor size in NF patients. That discovery led to the creation of the clinical trial and, in April of this year, the FDA green light for the first-ever drug to treat neurofibromatosis, marketed under the brand name Koselugo.
Pharmaceutical company and brand holder AstraZeneca paid for Cooper’s medication through the FDA approval; afer that, the insurance Kirsta has through her job as a wildlife biologist agreed to cover the $10,000 monthly cost of the medication, which arrives via FedEx from the only pharmacy that distributes it.
Cooper and his family have been featured as part of awareness efforts by the drug maker, as well as a September campaign and fundraiser benefiting the Children’s Tumor Foundation, the nonprofit that funded the research that led to the new drug. Cooper’s virtual fundraising walk last month for the CTF has raised almost $5,000 so far, and donations will continue to be accepted through the end of the year.
“We are fortunate to have the resources to fund the best treatment possible, and an incredible team of medical providers who led us to the actual medication,” Kirsta said. “Our hope is that we can raise awareness, do more fundraising that leads to treatments, and one day hopefully a cure.”
Odds are Cooper will need to remain on the drug through at least puberty, and potentially for the rest of his life. But that life is different than it would have been had science, and his parents, taken “no” for an answer.
“To be an advocate for your child is just critical for them getting the best care, especially in the world of rare diseases, where not everyone understands the condition. It’s not that all our stress has been removed, but we try to focus on having an attitude of gratitude and being thankful,” Kirsta said.
Or, as Cooper put it, tossing his bangs from his eyes: “I’m good. I feel good now. Want to meet our dogs?”