Chad Carr's everlasting gift to the world lies in discoveries that could lead to new cancer treatments or even a cure as scientists research the 4.6-centimeter brain tumor that took his life.
The blond-haired, charismatic grandson of former University of Michigan football legends Lloyd Carr and Tom Curtis died in November 2015, just 14 months after he was diagnosed with Diffuse Intrinsic Pontine Glioma, better known as DIPG. He was 5 years old.
University of Michigan researchers announced that by analyzing Chad's tumor cells, they have unearthed a new discovery with big potential: a genetic mutation called PTEN drove the growth of his cancer. The revelation carries hope for an effective treatment for some of the roughly 300 children who get the same terminal diagnosis each year in the U.S.
"Chad is changing the world," said his mother, Tammi Carr. "This brings meaning to his short life. ... To see that they've come through with a breakthrough is incredible."
Dr. Carl Koschmann, a pediatric oncologist at U-M's C.S. Mott Children's Hospital, said genetic sequencing and analysis of Chad's tissue found the PTEN mutation in every part of the tumor, suggesting that PTEN was an important early mutation that drove the growth of his cancer.
PTEN mutations play a role in some other adult cancers, Koschmann said, but they've never before been shown to drive growth in DIPG tumors. By attacking the PTEN pathway with experimental medicine now being used to treat some breast and prostate cancers, Koschmann said, children who have the PTEN mutation in their DIPG tumors could benefit.
"For future patients with DIPG who have this finding, we can say, ... 'We think it's an important enough event that we can consider targeting it with an experimental drug,' " he said. The findings are to be published in the journal npj Precision Oncology.
For patients with DIPG and their families, many of whom have little hope for survival – 90 percent die within two years of diagnosis – that is huge.
"It is probably the worst diagnosis that we get coming through our pediatric oncology clinic," Koschmann said. "The current estimates are that if you have a true DIPG, there is essentially no chance of survival.
"In the pediatric oncology clinic, when we see children with leukemia, obviously, it's devastating. But we can tell the families that in 90 percent of cases of leukemia, we can cure it."
That's not the case with DIPG patients. DIPG is inoperable, and it's the leading cause of pediatric brain cancer death. Only 1 percent of patients survive five years after diagnosis.
Worse, there is little to no federal funding for research into life-extending or life-saving treatments. Pediatric cancers overall get just 4 percent of the National Cancer Institute's budget.
And because getting the consent of families to donate their children's brain tissue to research after such a traumatic loss is difficult, there are few DIPG tumors for researchers to study.
"We want to see advancements in the science," said Tammi Carr. "They just can't do that without tissue. They need to learn more, and this was a way that Chad could be a part of that."
She remembers the day her husband, Jason Carr, approached her about donating Chad's tumor to research after his death. She wasn't yet ready to accept that Chad wouldn't beat an unbeatable illness.
"I was not in that place yet," she said. "I said, 'We don't need to worry about that, and I don't want to talk about that.' We got to a place, where unfortunately, I realized he wasn't going to make it, and so this was our chance to make that gift.
"We look at this as Chad's final physical gift here."
The decision to donate Chad's tumor to research, Tammi Carr said, wasn't a simple one, but she said it's something she wishes more families would consider.
"I do think it's really important for other families to know that first of all, that their child can make an impact," she said. "And then, also for families in the future, that ... we're going to ultimately be able to find a treatment plan for this."
After Chad's diagnosis, the hashtag #ChadTough took off on social media, becoming a way for family, friends and University of Michigan fans to rally support for Chad. Soon after, the ChadTough Foundation was born to raise money for research and to spread awareness of pediatric brain cancer.
The foundation has raised $3 million in the last three years for pediatric brain tumor research around the country, Tammi Carr said. It also is a partner in the Michigan Medicine Pediatric Brain Tumor Research Initiative, working to raise $50 million for the research and development of new therapies for childhood brain cancer.
"We are a Michigan family, and I believe at Michigan, we're the leaders and the best, so we have to lead in this area, said Tammi Carr. "We're going to be a part of that. Chad's legacy is a tremendous legacy, and we're ... thrilled to be building this with Michigan as our partner.
"That's not just about DIPG. That's about all pediatric brain tumors."
It's still hard to cope the loss of her youngest son, the boy who loved animals so much, he wanted to be a veterinarian when he grew up. Chad carried around stuffed animal puppies named Barley and Frederick and was delighted when he got a dog of his own, a pet he named Tootie. His birthday is coming up; he would have been 7 this year.
But, she said, "Working on this foundation, working on this cause, working to make change happen is something that serves as a distraction as well as serious motivation. And it's purpose, you know?
"I honestly believe that it was his role on this earth because things have come together organically. ... It's like the bricks are laid out in front of us, and he's telling us what to do. ... Things just come to us and we know it's the right thing because it's not hard. It's not twisting people's arms. They want to be involved. They want to help."
In the tumor that killed her little boy, Tammi Carr now sees hope for other children.
Just in the months since Chad's death, some medical strides have been made. Doctors have gotten better at safely biopsying DIPG tumors, which grow at the base of the brainstem, the part of the brain that controls blood pressure, breathing and other critical life functions. They also can now offer more personalized care to try to target a patient's particular type of cancer.
"The Pediatric Brain Tumor Research Initiative just launched earlier this year, and it has been the biggest boost to our research effort in the last 20 years," said Dr. Rajen Mody, Mott's director of pediatric oncology. "We have never had this much excitement about brain tumor patients. These are the patients who need the most help."
"We are seeing amazing momentum toward work that is already being done and being proposed to fight brain tumors."
Koschmann expects new discoveries like this one will lead to more personalized care and better odds of survival in the years ahead for children with brain tumors.
"We now know a lot more than we did before we started this project on Chad's tumor," he said. "And a part of the hope that we can give families is that we may be in new, uncharted territory and the kids being diagnosed right now may do better."
Tammi Carr is grateful for every step forward.
"I know that this is not going to be cured tomorrow," she said, "but there is a light at the end of the tunnel, and you can see some hope."
HOW TO HELP
To learn more about the ChadTough Foundation, go to http://www.chadtough.org/
In addition, donors can contribute directly to the Michigan Medicine Pediatric Brain Tumor Iniaitive online here: https://medicine.umich.edu/dept/pediatric-brain-tumor/giving or by contacting Maria Bertram at the Michigan Medicine Office of Development, 734-763-6184 or email@example.com.