Duke student researches cure for his own illness

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Duke student researches cure for his own illness

Statesville Record & Landmark - NC*

By Pope

Associated Press

Wednesday, February 20, 2008

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DURHAM -- 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.

This laboratory 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.

He grows and nurtures cells, one 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.

Chordoma - the cancer Josh learns he has - is a one-in-a million

disease. 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.

It turns out that the only researcher in the country with a grant to

study chordoma happens to be at Duke.

Sommer speaks with Kelley in his office 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.

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

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 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 land, 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.''