From 3-D Printers to gene therapies, medicine is changing like never before 

Two years ago this month, in a sweeping farewell State of the Union address, President Obama made the startling announcement that the U.S. would drastically ramp up efforts to cure cancer. He compared it to John F. Kennedy’s 1962 “moonshot” challenge — the audacious pledge, spurred by the space race with the Soviet Union, to put a man on the moon before the end of the decade. Kennedy didn’t live to see it, but Neil Armstrong, indeed, stepped on the moon in 1969.

Obama put Vice President Joe Biden, who lost his son to brain cancer in 2015, in charge of the “Cancer Moonshot”—the mission to make a decade of progress in cancer research in half the time — five years. That effort is continuing, despite the Trump administration’s specter of slashed funding for the National Institutes of Health and other research institutions.

But while bold, Obama’s challenge isn’t as pie-in-the-sky as it would’ve been 20 or even 10 years ago. It comes at a time when medical advancements and discoveries are happening at a dizzying pace—faster than most of us can keep up with or even understand. Science and technology are combining to accelerate changes in the medical field—from creating body-part replacements to gene therapy—like never before. It’s no longer theoretical. The future has arrived.

Progress is only going to get faster. One scientist likened today’s gene therapy developments to clunky, first-generation personal computers. We’re only at the cusp of where we can go. Eradicating diseases like cancer and multiple sclerosis, and reversing life-altering conditions like blindness and paralysis seem almost inevitable—our destiny as an evolving civilization. (Reality check: We’ve all seen the futuristic movies where advancements go haywire and prompt the question: Ultimately, will science serve humankind, or the other way around?)

For now, we may be entering a golden age of medical achievement. In the following pages, you’ll read about promising — breathtaking, even — medical advances that are happening, some affecting the lives of people here in the North Sound. As for Biden’s Cancer Moonshot, I wouldn’t bet against it.

Smartphone app expected to help screen for disease

Imagine snapping a selfie to find out if you have a disease like hepatitis, cirrhosis of the liver, or even pancreatic cancer. Researchers at the University of Washington are developing a smartphone app that makes it easy for people to screen themselves by taking a picture of the whites of their eyes to check for increased levels of bilirubin, an indicator of jaundice, an early symptom of these diseases.

The Biliscreen app focuses on detecting yellowing before it can be seen by the naked eye. The app uses a smartphone camera, computer algorithms and 3-D-printed box to block out the exterior light that might affect the eye. Colorful glasses, looking like leftovers from the psychedelic 1960s, provide reference for color calibration.

It is the app’s potential for earlier detection of pancreatic cancer that has caused the biggest stir in medical and public circles. The disease is diagnosed with much less frequency than lung and breast cancers, but it is devastating—the five-year survival rate is 8 to 10 percent.

The symptoms are often caught very late, said UW doctoral student Alex Mariakakis, 26, of the Paul G. Allen School of Computer Science and Engineering. “Jaundice is one of the ones visible from the outside.” A clinical study showed the app able to detect jaundice before it was visible to the naked eye, and compared favorably to blood screenings that test for the same condition.

Approval of the app isn’t likely for a few years — Mariakakis said follow-up studies continue and they have not even entered discussions with the Federal Drug Administration, which must approve it. Mariakakis said caution is needed. “It’s a murky world. Giving people the power to diagnose themselves…we don’t necessarily want them to jump to their own conclusions” but allow a medical professional to interpret results. Still, it’s exciting. Mariakakis has been flooded with emails from people eager to use it for themselves or a relative. Just about everyone has a smartphone and want to know more about their health.

“To be able to give someone a tool to do that…it gives you empowerment. It gives people more control over their health.”

Knee replacement shaped by 3-D printer

For Bellingham’s Robin Robertson, hope for a new life arrived via FedEx, delivered to the Pacific Rim Outpatient Surgery Center and packed in a black container the size of four stacked pizza boxes. In the box, among surgical tools and templates built for one-time use, was her knee-replacement implant, a fist-sized joint made of shiny cobalt chrome and polyethylene.

How it came to be is something that, not so long ago, would have seemed straight out of science fiction, a futuristic creation of the wildest dreams of scientists, doctors and engineers — more Star Trek than real life. Unlike most knee replacements—about 800,000 are done annually in the U.S. alone—Robertson’s was engineered precisely to fit her and no one else on earth. Only one company, Boston-area- based Conformis, does these kinds of custom knee replacements, and they are using a 3-D printer to do it.

Robertson’s knee was built virtually, using the printer, computer-assisted design and specialized software. The process started with a CT scan measuring her leg’s mechanical alignment from hip to ankle. Here’s what’s mind-blowing: From the scan, the software is able to extract the shape of the damaged knee and actually correct it when her artificial knee is built, layer upon layer, with the 3-D printer.

“We’re undoing her disease to the shape of the implant,” says John Slamin, Conformis engineer and senior vice president.

This differs from the traditional knee replacement because the knee is built to each patient’s specific alignment and joint structure. Typical “off-the- shelf” knees come in a few dozen sizes and are, for the most part, successful.

Still, those “off-the-shelf” odds for a better life weren’t good enough for Robertson, who agonized over the decision. “My biggest stumbling block was the fear that it wouldn’t be better after the surgery, and that would crush me…I just don’t want to be in that small percentage of people that have had trouble.”

Robertson, 56, was born with discoid meniscus, a malformation of the cartilage that provides cushioning and stability for the knee. She owns Bellingham Tennis and Fitness with her husband, Doug, a Bellingham attorney, and has undergone 10 knee surgeries — her first at age 13. She spent a lifetime pushing through pain to maintain an active lifestyle: gymnastics as a kid, track and cross-country at Western Washington University. But arthritis made doing most things painful, even torturous. When she was 24, after her second surgery, Robertson’s doctor said she had the arthritic knees of an 85-year- old. She had to give up running, so she made cycling her thing, in a big way, competing and now coaching and training others. She does not remember a time when her knees did not hurt. Over the years, her knees deteriorated further, keeping her from doing the things she loves: hiking, soccer,  skiing, even dancing but still, she waited, painfully, for better technology. Robertson has a thorough knowledge of knee mechanics. A Western Washington graduate with a degree in environmental science, she is doggedly upbeat and a sponge for learning how things work.

Finally, in recent months with her quality of life diminished to the point where even a short walk with her husband was too painful, she decided to have her knee replaced—with a custom implant. Her insurance covered it. Conformis has done about 75,000 custom knee replacements over 10 years, said Slamin, so it’s not experimental. Robertson had the surgery November 9, conducted by Bellingham surgeon Dr. Michael Thorpe, the only surgeon north of Seattle performing these custom knee implant surgeries (Robertson’ knee was his third implant). Thorpe knows Robertson’s knee, having performed seven of her surgeries. Conformis flew her to Boston to visit the plant to see where her knee was made.

As of this writing, Robertson’s recovery is going well overall. In January, her goal is to be riding a stationary bike for at least an hour. She hopes that with her new knee, created by cutting-edge science, she no longer has to feel like she’s living on borrowed time. She wants to be able to go on a three- or four-day hike with her husband, walk without a hitch, do other low-impact activities. She misses dancing, and other things too. “I want to wear high heels again!”

As in the case of Robertson’s knee, 3-D printers are revolutionizing engineering and manufacturing. They are only just getting started. In general, the printers are machines that can build a 3-D object by turning a computer design into thousands of tiny slices, then layering them from the bottom up. It can build in various materials, from ceramic vases to plastic toys to a metal and polyethylene replacement knee.

When asked about 3-D printers and the future, Slamin’s excitement, even over the phone, is palpable. “The Star Trek replicator where it’ll print food is not far away,” he said. (Take-out pizzerias, beware.) In Europe, engineers are printing plates to replace fractured skulls. The most exciting development in research labs: Printed cartilage, conceivably leading to medical engineering’s holy grail—printing replacement organs. “A brain? You’ll never do that,” says Slamin. “But maybe print a kidney, 50 or 100 years from now? I can see that. “At some point in time, you’ll be able to basically cure the disease by replacing an organ with a healthy, new organ. It’s out in the future, but it will happen.” The caveat?

“Assuming that we survive the next 100 years, as a race.”

Cannabis helping in more ways than before

Chances are good that you, or someone you know, is using cannabis or its extracts for something other than a recreational high. Maybe it’s for insomnia or joint pain or to deal with anxiety or migraines. Only now, when more and more states (29 and counting) are legalizing pot, is cannabis entering the mainstream as medicine. Balm or edible or bud, pot’s ability to free people from pain is chipping away at old taboos and stigmas.

Some medical advances have occurred despite the federal government’s classification of pot as a Schedule 1 controlled substance (the same category as heroin)—restricting access by certain groups, like military veterans, and disqualifying it for most major research funding.

Those advances have been spelled out recently by reputable government groups like the National Institutes of Health’s National Institute on Drug Abuse. In a 2015 report, the NIDA told of cannabis’s promising results obtained in treating epileptic seizures in adults and children. Studies are being done on its possible use in treatment of substance abuse, like opioid addiction; cancer; psychiatric and neurological disorders and disorders of the immune system. Harvard Medical School doctor Kevin Hill, who has done groundbreaking work in a study showing marijuana can help with pain in multiple sclerosis patients, told that it is too soon to recommend cannabis as a replacement for pain-killing opioids or treatment of opioid addiction.

While most people know pot for its chemical, THC, that causes the high, most medical studies focus on CBD, cannabidiol, which does not get you high.

Gene therapy the new frontier

It’s not often you hear medical officials and scientists, usually a conservative bunch, use terms like “new frontier,” and “utterly transformative.” But that’s what they’re saying about gene therapy. Of all medical advances, gene therapy is the most revolutionary. It is poised to change medicine as we know it.

In 2015, a 7-year-old German boy got a new lease on life after Italian doctors fixed a faulty gene the caused a rare skin disorder. The boy, dying from a disease that prevented his outer skin from attaching to his inner layer, received a skin graft—made after Italian doctors harvested his own skin cells and corrected an abnormal gene. The boy’s graft not only took, but regrew his own skin. The boy is back at school, and playing soccer like he always had dreamed.

Late last year, a study presented at the American Academy of Ophthalmology told of patients, blind from a hereditary retinal disease, regaining their sight—enough to navigate through a maze in low light—following gene therapy. This isn’t limited to one disease. A story in Science Daily said this could be the first step in approval for other therapies that could treat the more than 200 genetic mutations that cause blindness, including age-related macular degeneration. There is currently no cure for inherited retinal diseases.

In August of 2017, the U.S. Food and Drug Administration announced the first U.S. gene therapy approval for a new leukemia treatment. It’s part of a new class of gene therapies that fortifies a patient’s own immune cells to attack cancer cells. Researchers are hoping the new therapies, called “living drugs,” can be used to fight cancers of various types, and a study on glioblastomas—the aggressive brain cancer recently diagnosed in U.S. Sen. John McCain — shows mixed, but promising, results, said the N.Y. Times last summer.

The new leukemia treatment “has been utterly transformative in blood cancers,” Dr. Stephan Grupp, director of a Philadelphia cancer immunotherapy program, told the Times. “If it can start to work in solid tumors, it will be utterly transformative for the whole field.” Grupp cautioned it would take at least five years for anything conclusive. Five years—enough time for the “Cancer Moonshot” to hit its mark.

Surgical table makes hip replacements easier 

With mechanized arm and leg extensions and ski-boot footholds, the Hana operating table looks like something you’d find at your local gym. But it’s the latest high-tech equipment in hip-replacement surgery, allowing surgeons to operate from the front of the hip (anterior), rather than the traditional posterior or side, making for shorter, less invasive surgery with less recovery time.

“I feel like this is probably the new standard of care across the country,” said Dr. Christopher Sheu of Skagit Regional Clinics Orthopedics and Sports Medicine. The key to the Hana table (from the acronym for Hip And Knee Arthroplasty), is its many movable parts, attachments and features that make it versatile, while freeing up assistants from having to maneuver or hold patients during surgery.

It’s not for hip replacements only. Sheu uses the table to operate on femur (thighbone) fractures and hip arthroscopies. Sheu estimates has done 30 or 40 anterior hip replacements, two or three per week, since getting the Hana table in the fall of 2017. Going in from the front, versus typical surgery from the back or the side, means cutting through less muscle and tissue and means a dramatic differences in recovery. With the new table, patients go home the same day or the next day and have a lower risk of hip dislocation. The traditional method requires a typical hospital stay of two or three days, said Sheu, and has a longer rehab time.

Advances in breast cancer diagnostics

In recent years, breakthroughs in part of her pre-op testing to remove genetic testing for breast cancer, like the one that spurred actress Angelina Jolie to get a preventative double mastectomy after she found she had a gene mutation that often leads to breast cancer—received lots of attention. More common have been advances in mammographies—if you’ve had your breasts checked lately, your physician might have asked if your insurance covers a 3D mammography, the latest in advanced diagnostics, which gives a much more detailed picture that can help with early diagnosis.

But what few women know is that breast cancer comes in different forms. Knowing this, and the questions to ask if you’ve been diagnosed, can help save your life.

Just ask Birch Bay’s Elizabeth Vines. Her hometown doctor in Canada (she is a dual citizen) misdiagnosed her lump, which she first found as a pea-sized bump in February 2014. Six months later, it grew rapidly to the size of half a lemon. As a 35-year-old, relatively young for breast cancer and having no family history, her doctor told her not to worry. In late November, as what he had diagnosed as a cyst, she was horrified to learn the lump was advanced-stage (Stage 4) cancer that included a lesion on her liver. Shortly after, she was told she had two years to live, Vines said.

Reeling from the news, she took action when her Canadian cancer center could not get see her until after Christmas. She started calling around for anyone who could help. One agency was the Mayo Clinic in Arizona, near friends who wintered there. She started chemotherapy at Mayo Dec. 3.

In Vines’ case, getting a second opinion likely saved her life. Her Mayo Clinic doctors, led by Dr. Robert Northfelt, diagnosed her as Stage 3B—the liver lesion was not cancer — and HER-2 positive, an aggressive form of breast cancer best treated with specific cancer-fighting drugs that block hormone receptors.

Most people are unaware that different, specific types of breast cancer exist and can respond to targeted treatment. A determined Vines sought a second opinion, asked questions, and learned about her disease.

Vines was lucky—one of the drugs, Herceptin, had been around since 2006. The other, Perjeta, had just came out in early 2014 after use in clinical trials. The two drugs were the major players in a chemo cocktail that proved remarkably effective—after the first two treatments, her tumor had shrunk noticeably. Eventually, the 12-centimeter mass had shrunk to 4 millimeters, and doctors told her less than 1 percent of living cancer remained. Even her doctors were surprised.

After chemo, Vines still had to undergo a mastectomy and 28 rounds of radiation. But the cancer was gone. She was lucky in another way too. The drugs are expensive and Vines’ family, which included her son, then 4, prepared to sell their house to pay for medical bills. But pharmaceutical company Genentech, which developed Perjeta, had a foundation that offered Vines financial help, paying 75 percent of her treatment and surgery. It allowed the family to keep their house. “This company changed my life and saved my life in the process.”

On Nov. 19, Vines celebrated her two-year anniversary of completing cancer treatment. She is grateful to return to normal life. “I am happy to have hair again and be more myself again.” She still has to take drugs to keep the cancer from returning. But that’s a small price in exchange for being able to help at her son’s school, where she reads to his classes and goes on eld trips. She has even started running again.

She regrets not getting an earlier diagnosis, which could have avoided much agony. But seeking a second opinion and a more specific diagnosis “made all the difference in the world to me. I felt like I was looking for a miracle and found it. It was completely life-changing. I had lost all hope. I found there were new drugs and they hoped they would work well for me, and they did.”

"Here’s what’s mind-blowing: From the scan, the software is able to extract the shape of the damaged knee and actually correct it when her artificial knee is built, layer upon layer, with the 3-D printer. 'We’re undoing her disease to the shape of the implant,'says John Slamin, Conformis engineer and senior vice president."