Faced with life-threatening diseases, patients take over – The San Diego Union-Tribune

Battling an extremely aggressive prostate cancer and running out of options, Bryce Olson could have done what many patients do: ask his oncologists advice.

Had he done so, Olson says he would probably be dead by now. Hed likely have received more harsh chemotherapy, which is less effective with each cancer recurrence.

Instead, Olson looked to the frontiers of medicine for experimental treatments that precisely fit his diseases genetic profile, a field known as precision medicine. By choosing this path, Olson estimates he has gained at least two years of life.

Olson and other patients told their stories about what precision medicine did for them at a panel discussion during a recent conference on the subject in downtown San Diego.

Their message is that patients with life-threatening diseases need to take charge of their treatment; not necessarily to oppose their doctors, but to participate as equals.

And as patients who have benefited from precision medicine tell their stories, they say, other patients are going to follow suit.

Olson, global marketing director of the health and life sciences group at chip-maker Intel Corp., looked at his disease with the attitude of a technologist.

He successfully lobbied to have his genome sequenced, which yielded the information needed to qualify him for a clinical trial of an experimental drug. The genome is the complete set of DNA in an organism, containing all hereditary information.

Olson went so far as to confer with a pathologist, who normally reports to the oncologist, not the patient. This irregular procedure made the pathologist uncomfortable, Olson said, but enabled him to actively advocate on his own behalf.

The drug itself failed the clinical trial. But Olson was able to get the remaining drug supply routed to him, because he had genetic biomarkers that indicated the drug helped him, and he didnt suffer the heart toxicity that affected other patients.

In effect, Olson was able to turn himself into a one-man clinical trial.

Now Olson is looking for the next experimental therapy to try.

I wouldnt be here today if I hadnt partnered with research, Olson said. And I dont want to veer from that path ever again, because imprecision medicine kinda sucks.

Nicholas Volker became famous as the first person whose life was saved through genome sequencing. As a child, he was diagnosed with a genetically caused intestinal disorder, leading to a successful umbilical cord blood transplant.

Amylynne Santiago Volker, Nicholas mother, told his story at the panel. It was a long process mostly filled with unanswered questions and urgent medical procedures, she said.

My son Nic has had 172 surgeries, he wasnt able to eat for three years He weighed 17 pounds at age 4 in 2009, she said. He had his entire colon removed in April of 2009.

After that operation, his parents decided to search his genome for a genetic cause. Scientists sequenced the small part of the genome that contains genes that code for proteins, known as the exome.

What they found from the sequencing was XIAP, which is a one-in-a-billion mutation, Volker said. He also had a rare disease, called XLP. Thirty days after transplant he got encephalitis, he developed intractable seizures.

The good news is that after these ordeals, Nicholas is not only alive, but out of the hospital, and learning to socialize with other children.

Genome sequencing such as that done for Nicholas has become far more common, and far less expensive, than in 2009. Its now routinely performed at health care centers such as Rady Childrens Hospital in San Diego.

But much of the public has no idea about the power of the new genetic tools that can help doctors make better-informed choices, Volker said.

To spread that story further, pay for Nics care, and others in his situation, Volker has established the One in a Billion Foundation. Ultimately, the foundation aims to make genome sequencing a standard of pediatric care, and available to every child in need, worldwide.

The foundation can be reached at http://www.oneinabillionic.com.

Panel moderator Hudson Freeze has been advocating for precision medicine for many years.

Director of the human genetics program at Sanford Burnham Prebys Medical Discovery Institute, he studies rare diseases involving a process called glycosylation, or putting sugar molecules on proteins.

These are the kinds of exotic diseases that doctors usually treat with imprecision medicine, if theyve even heard of them. Patients may travel around the country, or even internationally, in search of a specialist.

Every year, Sanford Burnham Prebys sponsors a conference on glycosylation-related diseases, bringing together academic researchers, doctors and those with the diseases. The next one is scheduled for Feb. 23-25. Go online to j.mp/glycosy for more information.

Glycobiology is this dark matter. Not many people know about it, Freeze said. The ability of scientists to come forward and be in a good relationship with patients and physicians is critically important.

Freeze discovered the limits of imprecision medicine early in life. His sister, Jackie, is profoundly mentally disabled, with a mind of roughly a year-old infant. She is 65 years old.

Unlike prostate cancer patient Olson, Jackie wasnt offered an inadequate treatment, Freeze said in a post-panel interview. She wasnt offered anything at all.

About a year after she was born, Jackie began failing her developmental milestones. Freeze was about 5 when the family drove from their home in Garrett, Ind., to the big city, Chicago, to see a specialist.

So we go out to see this physician, and after some time we will never forget this quote she said, Well, there is no place for this child, Freeze said. And we drove back 150 miles in complete silence.

Jackie has some understanding of what people say, but she cant talk herself. She does recognize and responds to people. To demonstrate, Freeze took out his smartphone and called Jackies caregiver for a video conference.

Hi sweetie, Freeze said, pointing to Jackies face on the smartphone. Jackie, how are you?

She's smiling, Freeze said. She's gone try to kiss the phone. That's usually what she does.

After a few more minutes, Freeze says goodbye and ends the call.

Freeze, a regular nerd in high school, said Jackies condition didnt cause him to enter rare disease research, but after he became interested in biology, he saw the connection.

That interest led him to meet with families with children like Jackie.

So I came into this meeting and here all these kids who were a lot like my sister, and I just felt so at home, Freeze said. It was all so normal. Everything just fit.

To help people like Olson and Jackie, people from different fields need to collaborate more with each other, he said.

It's going to be a matter of getting scientists and physicians educated, and scientists to get out of their comfort zone and just talk to people, Freeze said.

When patients find they have options and can choose among them, they get more personally involved in their care, said Olson,

If you just get thrown into the one-size-fits-all treatment plan, I think you lose your engagement pretty quickly, Olson said.

It wasnt until I got my molecular diagnosis, when I got something that was personalized and precise, all of a sudden my engagement went like this, he said, gesturing upward.

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Even more money for historic push to customize fight against diseases

bradley.fikes@sduniontribune.com

(619) 293-1020

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Faced with life-threatening diseases, patients take over - The San Diego Union-Tribune