After losing kids, families hope to further research
Parents donate children’s brain tumors for studies
Doctors have made a potentially game-changing discovery about the deadliest childhood brain tumor, and they credit the advance to the generosity and compassion of parents who have lost a child to the disease.
The breakthrough involves a devastating type of cancer called DIPG, or diffuse intrinsic pontine glioma, which is almost always fatal. The tumors affect the brain stem, the part of the brain responsible for essential functions such as breathing and swallowing.
As the tumor grows, it weaves itself throughout the brain stem, making it impossible for doctors to remove, says Amar Gajjar, chair of brain tumor research at St. Jude Children’s Research Hospital in Memphis. Because the tumors are inoperable, they’re much harder to treat than other cancers.
Without surgery, doctors haven’t had a way to obtain samples of tumors for research, Gajjar says. That’s one reason doctors made relatively little progress against the tumors and why survival rates haven’t improved in three decades.
Doctors asked parents of children with DIPG — typically diagnosed at ages 5 to 10 — for an enormous favor. They asked parents to let them autopsy their children, taking samples of the tumors within hours of death, says Suzanne Baker, co-leader of St. Jude’s neurobiology and brain tumor program.
Researchers weren’t sure how parents would respond.
“It’s such a devastating, aggressive tumor,” Gajjar says. “Parents are just in shock from when it begins to when it ends.”
Doctors had to approach parents at the worst time in their lives — as they were grieving over a child about to die, Baker says.
Yet more than 50 parents agreed.
That’s a huge response for a disease that affects only 200 to 300 children a year.
“We are eternally grateful to these parents,” Gajjar says.
For Lenore Wyant, the choice was clear.
Helping researchers try to save other children gave them a small sense of comfort over the loss of their 6-year-old son, Foster, who died in 2011.
“He was a sparkle in our family’s life,” says Wyant of Chambersburg, Pa. “He was a wonderful kid, a wonderful friend. He loved to tell jokes and make everybody laugh.”
By preserving his cells, she says, “this was a way for me to say, ‘There is still going to be some part of him living. There is a little star out there that is saying, ‘ I’m still here, Mom.’ ”
For Howard Scott, donating his son Tyler’s tumor gave him a way to take action. Tyler died of DIPG at age 5 in 2006, 10 days after being diagnosed.
“At St. Jude, they told us they didn’t know much about what caused the tumor,” says Scott of Charlotte. “I said, ‘ How can we change that?’ As a father, you feel completely helpless. You are sup- posed to protect your kids, and I couldn’t.”
Scott started a foundation in his son’s memory, called Tyler’s Treehouse, that has raised $520,000 for children’s cancer research. “We hope one day to be part of the solution,” he says. “My wife and I, we just thought this is what Tyler would want.”
Using the autopsied tissue, scientists at St. Jude made a critical discovery in 2012: genetic mutations present in 80% of all DIPG samples. Other researchers in Canada and Germany have found similar mutations, confirming St. Jude’s findings.
That’s a landmark finding for a tumor that was a virtual black box a few years ago, Baker says.
The discovery of the mutations is significant because of their location, says Malcolm Smith, associate branch chief for pediatric oncology at the National Cancer Institute. The mutations are on a gene involved in the formation of histones, proteins that help package DNA inside the nucleus. His-
“He was a wonderful kid, a wonderful friend. He loved to tell jokes and make everybody laugh.”
Lenore Wyant, on the death of her son Foster, 6
tones and related chemicals are part of what scientists call the “epigenome,” a system involved in turning genes on and off, which can play crucial roles in cell growth.
DIPG is the first cancer to have recurring mutations in a histone gene, Smith says.
Learning more about the mutations could help scientists understand how DIPG develops. More important, it gives researchers a target for a new drug, Baker says.
Developing drugs takes years, Gajjar cautions.
Even if doctors are lucky enough to find a good candidate among unapproved drugs — ones pharmaceutical companies have on their shelves — it could be years before doctors can offer children a new treatment, even experimentally, says Gajjar, who met with Smith and other scientists recently at the National Cancer Institute to help map research on DIPG. Drugs typically go through many stages of tests — in lab dishes and animals — before they reach human trials.
“The road from here to better treatments is just beginning and not an easy one,” says Adamson, chief of the division of clinical pharmacology and therapeutics at the Children’s Hospital of Philadelphia.
Given that most children with DIPG succumb within a year of diagnosis, it’s unlikely that any of the children suffering from the tumor today will benefit from St. Jude’s discovery.
“We’re at the early stages,” Smith says. “But at least we have a better idea of where to look for answers.”
Yet the discovery comes as researchers are “poised for progress” in DIPG, according to a 2012 report by the NCI’s Katherine Warren in Frontiers in Oncology. More studies have been published about DIPG in the past five years than in all previous years combined, she wrote.
The discovery gives parents such as Wyant and Scott hope.
“This has given Foster’s life purpose,” Wyant says.
St. Jude researchers were so concerned about how parents would react to the autopsies that they conducted a formal study of 33 of the families, published last year in the Journal of Pediatrics.
All of the parents said they had made the right decision, researchers found. None regretted it, and 91% said they would make the same choice again.
“I can’t imagine walking this walk, without the faith, without some hope that I am going to see him again,” Wyant says. “All that laughter, all that fun we had — we will have that fun again, although it won’t be here on this Earth.”
Wyant says she would be comforted if St. Jude’s research could help even one family: “Just one little kid whose mommy doesn’t have a broken heart, because a kid gets to grow up and have a life.”