News & Observer | newsobserver.com | Patient leads fight for his life

Published: Dec 23, 2007 12:30 AM
Modified: Dec 23, 2007 01:41 AM

Patient leads fight for his life

He spurs research to cure rare cancer

In the realm of rare cancers, it's rarer still when the disease strikes someone uniquely equipped to fight it.

It happened to Josh Sommer, 19, a junior at Duke University. Diagnosed last year with chordoma, a rare bone cancer, he applied his brainpower and, with a little luck, led an international charge to find a cure.

Trying to cure your own disease would be ambitious for a trained scientist, let alone a teenager who had never taken a biology class. But against the odds, Sommer has made real progress.

He learned to do laboratory research and has personally produced new findings about genes that might play a role in chordoma, which sprouts from the skull and spinal column. He has scoured the globe for cell lines cultured from live chordoma tissues, providing a vital resource for scientists testing possible treatments. And he has become an encyclopedia of knowledge about the disease, tracking every new paper published and the scientists behind them.

Working with his mother, Dr. Simone Sommer, a physician, Josh Sommer also established the Chordoma Foundation to coordinate and speed research efforts. Just a few months later, he co-sponsored the first international research meeting on chordoma, bringing together more than 50 scientists. At the Sommers' urging, National Cancer Institute researchers studying a treatment for leukemia agreed to test it on chordoma. Work the Sommers encouraged at Duke may soon lead to new trials for drugs to treat the disease.

Now, the mother-son team wants to raise $3 million within two years to support the foundation's work.

"It is truly amazing how much work has been done," said Dr. Neil Spector, a Duke oncologist who directs the Duke cancer center's program in experimental therapies. His lab began studying chordoma at the Sommers' request and has produced findings that suggest possible treatments.

"I've never seen anything like it," Spector said, "to have this concerted an effort in this short a time."

And time is critical for Josh Sommer. There is no cure for chordoma, and few treatments are effective. The average patient survives just seven years after diagnosis.

"I feel like I'm really under the gun," said Sommer, who has maintained a full course load and an "A" average at Duke. "You just start making things happen."

A fateful choice

Over and over, the right people and resources have come to Josh Sommer at the right time. Serendipity even seemed to play a role in his decision in 2005 to attend Duke, where he has found so many physicians and others willing to help.

Duke wasn't his first choice. A born engineer who had tinkered since early childhood, Sommer dreamed of attending M.I.T. in Boston. He was accepted there, and also had offers from Stanford and Georgia Tech.

Duke, however, was the only university that allowed freshmen to come in with student-initiated research projects. Sommer and his mother were sickened by mold in the walls of their Greensboro home, and he was bent on developing a method for measuring airborne mold toxins. He accepted Duke's offer of a four-year scholarship valued at more than $200,000. Work on his mold project continues today in the lab of a Duke engineering professor.

By winter break of his freshman year, Sommer was plagued by incapacitating headaches. A brain scan in January 2006 revealed a growth.

"The whole world was falling apart," said Simone Sommer, who trained as a family doctor and also holds a master's degree in public health.

In spring of 2006, Josh Sommer had surgery in Pittsburgh to remove his tumor, which produced a definitive diagnosis: chordoma. Sommer spent his summer recovering and reading everything he could about his cancer.


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jean.fisher@newsobserver.com or (919) 829-4753
Josh Sommer, a Duke University junior, works with chordoma cells at the Veterans Affairs Medical Center in Durham.

OUTSMARTING THE SYSTEM

Science is stacked against rare diseases. Little government grant money is available. Drug companies are reluctant to spend money targeting diseases with such small markets. As a result, scientific discoveries are slow, and treatments are even slower.

Josh Sommer and his mother, Dr. Simone Sommer, established the Chordoma Foundation to surmount those problems and speed progress toward a cure for the rare bone cancer. Josh Sommer was diagnosed with chordoma in 2006.

The Sommers, who volunteer their time, attack barriers to research in three main ways:

* First, they gather samples from chordoma tumors, collecting both live tissue and frozen, to distribute to researchers. Live cells are particularly valuable because they are needed to test possible treatments.

* The foundation's other main role is to stay on top of scientific work that may affect chordoma treatment. When the Sommers identify a scientist, they make contact and ask that chordoma be included in the research.

* Last, the foundation is a hub for research, promoting collaboration and communication among scientists.

The Chordoma Foundation incorporated as a 501(c)(3) nonprofit corporation in February.

For more information, or to make a donation, visit its Web site:

www.chordomafoundation.org

COMPILED BY JEAN P. FISHER

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