Wednesday, February 20, 2008

[StemCells] Student studies own rare cancer

College student fights his own cancer
http://www.chordomafoundation.org
By JUSTIN POPE
AP Education Writer

DURHAM, N.C. --Usually, he just finds a way to move faster, to cram
more into the day. But some things cannot be rushed, and that is one
of the hardest parts.

Josh Sommer waits for the test tubes to warm up to 37 degrees
Celsius, for the centrifuge to spin them around, then for the cells
inside to settle properly to the bottom. Last year, one batch took
three excruciating months to get right.

This cinderblock laboratory inside a Veterans hospital research
building is not where the 20-year-old Duke University junior expected
to spend much of his college career. He came to Duke to study
environmental engineering, not biology.

But for what Josh now needs, a million things need to be done, and
running these cultures is one of them. So he is here, growing and
nurturing cells, one small but vital part of an effort to help others
understand the genetic mechanisms that make them misfire.

So he is patient, because a mistake could set the project back a
week, and thousands of lives are at stake.

One of them is his.

---

Freshman year starts blissfully. It begins with a 10-day camping trip
in the Smoky Mountains. He is surrounded by new, smart friends. When
classes start, the conversations spill out into the quad afterward.

The terrible headaches come over Christmas break. Josh undergoes
testing before returning to school.

His mother, Simone, gets the phone call at her home in Greensboro. A
doctor herself, she takes the news from a fellow physician calmly,
clinically. Then she hangs up and goes to pieces, as any parent would.

She gets in the car and drives to campus with Josh's dog Dassi. Josh
is on his way to the climbing wall when his cell phone rings. "I'm in
Durham and we need to talk," Simone tells him.

He is puzzled, then remembers the recent MRI. His heart thumps. When
he meets her at the dorm, she is holding back tears.

A cancer diagnosis is devastating, whatever the type. Nearly 220,000
new cases of prostate cancer are diagnosed each year in the United
States, 178,000 of breast cancer, 154,000 of colorectal cancer.

Chordoma - the cancer Josh learns he has - is a one-in-a million
disease. Just 300 people get the terrible news each year, not even
one per day. It strikes all ages, at different spots along the spinal
column. The tumors can be removed, but the cancer is relentless.
Chemotherapy doesn't work. Life expectancy is around seven years.

The MRI shows Josh's tumor is in a tough spot, in a bone inside his
skull. It extends onto his brain stem and wraps around several
arteries. There are two surgeries, then weeks of recovery in the
hospital. He and Simone pass the time reading whatever they can about
the disease.

There isn't much. The massive apparatus of medical research -
pharmaceutical companies, foundations, universities, government
agencies - is utilitarian. High-prevalence diseases are at the front
of the line, rare ones like chordoma usually at the back.

But then, a stroke of good fortune. It turns out that the only
researcher in the country with a grant to study chordoma happens to
be at Duke, working in a VA lab across the street from campus.

They meet Michael Kelley in his office on a Sunday. They talk about
the research and where it might go next. Kelley says he's willing to
proceed, but he'll need things like equipment and staff to work in
his lab.

Well, Josh says, you can put me to work.

---

He hasn't taken a biology class since ninth grade, but catches on
quickly. In high school, a national newspaper named him to a top-20
academic all-star team for the whole country.

It's an odd experience, trying to nurture cells to help others figure
out how to kill them. As he learns more and more about chordoma, Josh
tells his mom the science fascinates him. He just wishes it wasn't
life and death.

Josh isn't the first person to work in a lab to find a cure or
treatment for his own disease. A cystic fibrosis victim named Jeff
Pinard has done work on the genetics of his affliction. A Tulane
medical student named Andy Martin studied a cancer called sinonasal
undifferentiated carcinoma, which is even rarer than chordoma.

They're uplifting stories. But Josh sometimes worries they distract
people from the urgent reality. Andy died in 2004. Josh has become
friends with a local 12-year-old with advancing chordoma. He knows
what the disease does.

"I guess the way I look at it is that there will be a time for every
disease when one can in essence outrun their disease," Josh writes in
a late-night e-mail to a reporter who had been spending time with him.

"For Andy his disease was too fast and the science too slow." For
Jeff, "science has just barely outpaced his disease. I hope to be in
Jeff's category rather than Andy's."

By fall, Josh is back on campus and working in Kelley's lab. He has
realized that this won't be enough. He and Simone know something much
bigger is needed.

In their research, they discover something surprising: The biggest
obstacles to a cure aren't necessarily scientific ones. They're human.

Numerous researchers at Duke, in Boston and in Europe are ready to
work on chordoma, but don't have the cell lines they need. Meanwhile,
the tumors needed to produce those lines are just being thrown away
by the surgeons who remove them.

Doctors aren't talking to one another. Various neurosurgeons,
orthopedic surgeons, and others have experience removing chordoma and
trying to treat it. But the groups have never sat down and compared
notes.

Funding is certainly scarce. But there is also no basic
infrastructure, not even a database of the disparate patients and
doctors treating chordoma to organize a clinical trial.

Chordoma doesn't need another lab assistant. It needs a field marshal.

Josh and Simone are well-suited to work as a team. Simone raised Josh
alone; when he was in high school, they both became mysteriously ill
with what turned out to be a debilitating toxic mold infection, which
forced them to move and forced Simone to give up her medical practice.

Josh responded by helping design a new way to assess mold
contamination (work that made him a semifinalist in the prestigious
Siemens Westinghouse science competition). He and Simone traveled to
Washington to speak at press conferences and lobby Congress for
tougher mold legislation (Josh says it's impossible to say whether
there is any connection between the mold and his cancer).

The campaign failed, but they had learned to persuade, to organize,
to talk their way past receptionists, to ask for what they needed.

"I think it was my mom's way of coping - you see a problem that can
be fixed and you do something about it," Josh says.

---

These days, Josh still works in Kelley's lab several days a week, but
has cut back his hours. His focus now is the Chordoma Foundation,
which he and his mother founded to push every aspect of chordoma
research.

Last spring in Maryland, they sat in a room with dozens of scientists
they had brought together to talk about chordoma, the first ever such
meeting.

A "BioBank" is in the works, to help gather tumor material and ship
the most promising cell lines to researchers who need them.

At Duke alone, Josh has helped recruit at least a half-dozen labs -
in fields like radiology, oncology, and genetics - into the chordoma
effort. More are ready to start if they can get the cell lines they
need.

"For the foundation to go out and say, 'At 3 o'clock Wednesday
afternoon someone's having a biopsy and we need to capture that
information,' it's tremendous," says Neil Spector, another cancer
researcher at Duke and the VA whom Josh enlisted to work on
chordoma. "I've been approached by a lot of people who have diseases
who are desperate and say, 'Can you help find a cure for this disease
or that disease?' but really don't have an idea of what it takes."
Josh and Simone, he says, have done their homework.

The challenge is to prod the research bureaucracy to catch up with
the evolving conceptions of cancer itself. Experts like Spector
increasingly see the differences between cancers in molecular terms,
not based on where they occur in the body. That boosts the argument
that research on rare cancers like chordoma could be more broadly
useful.

"If you were to ask me two years ago I would have said maybe a
decade, seven years if we're lucky," Kelley says, when asked about
the prospects for effective treatments. "That timeline I think has
been shortened a lot. We're going to understand the genetic changes
that occur in chordoma in the next year."

The next step is to see if any known compounds - even drugs already
in use - might show progress against those genetic defects. The
foundation recently arranged for a cell line to be exposed to a
battery of 2,000 substances in the library of FDA-approved compounds
at the National Institutes of Health. It's a shot in the dark, but a
start. With luck, something already on the pharmacy shelf will match
up. If not, drugs will have to be developed from scratch, and that
will take longer.

---

Josh's health is good, but he knows the future is uncertain.

"The opportunities at Duke are just astounding and we are making
rapid progress," he says. "But a lot of times I feel like it's not
fast enough."

Every day is a race, and it is exhausting. He and Simone have raised
$300,000 in a few months - en route, they hope, to $3 million over
the next few years.

When a recent philanthropy competition on the social networking Web
site Facebook.com promised $10,000 to groups that attracted the most
total donors, Josh barnstormed Duke's campus, hitting sorority
meetings and big lecture classes, offering free doughnuts and pizza
to anyone who would make a donation. Altogether, the contest netted
$25,000 for the foundation.

"The weeks feel like days," he says. "Time is just flying by. I feel
like we can never do enough. I'd like to somehow cram 48 hours into
24 hours. You prioritize and try to make the most of the time you
have."

He lives in a dorm, greets friends on campus, acts like a regular
student. But he isn't. His friends still belong to the carefree world
he remembers from freshman year. Josh is terribly grown-up. He is
getting the best education of any of them but would gladly trade it
if he could.

Duke has given him the semester off from classes as part of a pilot
public service project. He misses the giddy intellectual excitement
of that first semester. But classes that won't help him get chordoma
cured just take up precious time.

"For me, being here now has turned into a way to save my life," he
says, "and save the lives of lots of other people."

http://www.bnd.com/living/health/story/260469.html

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StemCells subscribers may also be interested in these sites:

Children's Neurobiological Solutions
http://www.CNSfoundation.org/

Cord Blood Registry
http://www.CordBlood.com/at.cgi?a=150123

The CNS Healing Group
http://groups.yahoo.com/group/CNS_Healing
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