THURSDAY, July 16, 2009 (HealthDay News) -- As a child, Daniel Alter had blazing headaches that doctors explained away as lazy eye or asthma.
He pushed himself through Boy Scout hikes until one day he fell three times in one hour. On the baseball field, he would see a fly ball coming right for his mitt and it would fall to the ground, 10 feet away.
Finally, after one horrible baseball season of missed hits and no outfield catches, doctors at a local children's hospital in Texas diagnosed chordoma, a rare and malignant bone cancer at the base of his skull. A neurosurgeon shook his head about the diagnosis.
"He told us to go home and hug him," said Daniel's mother, Lori. "There was nothing else we could do."
Daniel was 12. The year was 1997.
But the Alters, of Beaumont, Texas, wouldn't give up. They tracked down the name of one of the few surgeons in the country who was willing to take on such a risky case at the time: Dr. Osamma Al-Mefty, a neurosurgeon at the University of Arkansas Medical School.
The Alters flew to Arkansas and Daniel was prepped for brain surgery. Al-Mefty and his surgical team worked for 17 hours to cut away 70 percent of the tumor. The surgery was stopped when the doctors saw they were coming too close to the 6th and 12th cranial nerves, threatening paralysis of the boy's left eye and half of his tongue.
Al-Mefty would perform a second surgery because the tumor continued to eat away at Daniel's vertebrae. The boy would also go on to endure 42 proton beam radiation treatments.
About 300 Americans are diagnosed each year with chordoma, according to Dr. Paul Gardner, a neurosurgeon specializing in chordomas at the University of Pittsburgh School of Medicine and co-director of the Center for Skull-Based Surgery. The bone cancer is usually found in the top or the bottom of the spinal cord and symptoms depend on where the chordoma is located. Most patients are males over 50, and surgery and radiation work in about half of all cases, Gardner said. Children make up only a handful of the cases and have a poorer prognosis.
Gardner and his colleagues recently devised a new technique to get at the tumor by going through the nasal cavity, which reduces the risks of brain surgery. He spoke at the second annual Chordoma Community Conference in June, sponsored by the Chordoma Foundation. The foundation was started by Dr. Simone Sommer, a physician from North Carolina whose son Josh was diagnosed with chordoma in 2006 during his freshman year at Duke University.
Gardner said the foundation, which has already raised almost $1 million for research, has helped encourage scientists to tackle chordoma tumors in their laboratories. The foundation has also put together two research conferences to entice scientists to study the rare cancer.
Daniel Alter spoke at a recent meeting of the Chordoma Foundation, sharing his story of hope. He's now a dozen years beyond his surgery and radiation treatments.
"Chordoma is no longer a constant thought," Daniel said during a recent interview. The cancer left him with partial hearing and a speech impediment, but it has never stopped him from living.
"In a word, this has given me perspective," he added. "I realize what is and what is not important. I do not worry about what other people think is important. I know what I think is important."
His family is number one on the list. He is the oldest of four children and the only boy. He graduated from the University of Texas at Austin last year with a double major in archeology and anthropology and hopes to work on a project next year in Israel. The topic: archeology and the Bible.
"Research is the only way we will be able to develop treatments that save more people," Daniel added.
Dr. Sommer and her son Josh agree. On the heels of her son's diagnosis, she began combing the scientific literature. She found a scientist at Massachusetts General Hospital who had published two case reports of patients with tuberous sclerosis who developed chordomas along the spine. Sommer asked the scientist, Vijaya Ramesh Ramesh, whether she thought the genetic mutations on two tumor-suppressor genes linked to tuberous sclerosis could be involved with the development of chordomas.
Ramesh said it was possible but she had no access to chordoma tissue to study the genetic makeup. So Sommer tracked down a pathologist at Harvard University with a large collection of chordoma tissue and the collaboration lead to the discovery that the tumor-suppressor genes were involved in the tumor.
Ramesh presented her findings three weeks after her discovery, at the first International Chordoma Research Workshop, sponsored by the Chordoma Foundation, in 2007. Last year, at the second International Chordoma Research Workshop, five different groups presented new research on the involvement of the so-called mTOR genetic pathway in chordomas. The findings led to a study in Italy treating chordoma patients with a drug called rapamycin that is active in the mTOR pathway. Results published on July 1 in the Annals of Oncology demonstrated that patients benefited significantly from this therapy.
The foundation has also funded the launch of the Chordoma Genome Project to sequence the chordoma genome to identify the mutations that drive the tumor. "This should lead to a lot of answers," Sommer said, adding that the findings will immediately be made available to investigators worldwide.
The mother-and-son duo also got the ear of geneticist Dr. Francis Collins, who introduced them to scientists at the U.S. National Institutes of Health's Chemical Genomics Center. The center is now testing 3,000 U.S. Food and Drug Administration-approved drugs in chordoma cell lines in an attempt to identify potential treatments, Sommer said.
"Scientists are excited about the prospect of discovering new treatments for chordoma," she said.
And patients like Daniel Alter are hopeful.
Last month, Daniel talked publicly for the first time about his journey since his diagnosis. Until the creation of the foundation, Daniel had only met two young people with the disease. Both have since died.
Daniel's sights are set on the future. And he's hoping that researchers will learn to understand why the bone cancer takes hold and find ways to increase the odds of survival. At the conference in June, he met other patients with chordoma, and told them what he tells himself every day:
"Live your life and don't worry about it."
To learn more, visit the Chordoma Foundation.