When unapproved drugs are the only hope

Two years ago, Nathalie Traller spent her days like any seventh-grader might. She played soccer and swam and studied for classes. Then Nathalie started getting bad headaches, the kind that made it hard for her to concentrate.

A trip to the doctor revealed the unthinkable: a mass the size of a baseball in her chest. Cancer. It had already spread to her brain.

Nathalie was diagnosed with ASPS, alveolar soft part sarcoma, a cancer so rare that her oncologist, a sarcoma specialist, said Nathalie is her only patient with the disease. It makes up less than 1 percent of all sarcomas, which themselves make up just 1 percent of all cancers.

Nathalie, now 15, has since been through 10 surgeries, four medicines and several bouts of radiation to shrink the tumors in her brain and elsewhere. Still the cancer persists. Her doctors at the Knight Cancer Institute at Oregon Health and Science University in Portland have identified a new class of drugs they think could help her, but Nathalie hasn't been able to access them. They're still experimental, and Nathalie doesn't qualify for the clinical trials: they start at age 18.

"She met the criteria in every way for a number of trials except for her age," Nathan Traller, Nathalie's dad, said in an interview in Portland. "So we were hoping maybe there could be an age exception made or some sort of provision so that she could try some of medicine's best ideas. And we just kept finding that the door was closed."

The Trallers are in a position countless others have been before: they're out of options among approved drugs or those available through clinical trials. And Nathalie's running out of time.

The U.S. has a system meant to help: it's called compassionate use and it's a way for terminally ill or otherwise optionless patients to access experimental drugs outside of clinical trials. For a patient to receive a medicine on that basis, she must have the support of her physician, the consent of the Food and Drug Administration and a pharmaceutical company willing to supply the drug. That's where the Trallers, and many others, have gotten stuck.

The Trallers have asked Genentech, Bristol-Myers Squibb and Merck for access on a compassionate use basis to their experimental medicines. They're in a new class called immunotherapies—drugs that harness the immune system to fight cancer. So far, the Trallers say, all of the companies have said no.

Compassionate use can be a complicated area for pharmaceutical companies, which cite issues including limited supply of experimental medicines and lack of data on their safety and efficacy in rejecting patients' requests. Their focus is on completing clinical trials to get drugs to market as quickly as possible; manufacturing enough medicine for the hundreds of compassionate use requests that may come in could be prohibitively expensive, and they argue that diverting resources outside of trials could slow the process down. There are also fears a bad outcome could derail an entire clinical program—or that making a drug available outside studies could deter patients from enrolling, and risk getting a placebo.

Drugmakers are navigating the issue in an increasingly public arena, fueled by the rise in viral social media campaigns that grab the nation's attention. Nathalie's case has been taken up by people across the globe.

Last year, BioMarin Pharmaceutical had a public tussle with Andrea Sloan, a woman with ovarian cancer, after it denied her request to access one of its experimental drugs. Earlier this year, drugmaker Chimerix was the target of an onslaught of negative media when it initially refused an experimental antiviral medicine to Josh Hardy, an ailing 7-year-old boy, before finding a way to enroll him in a new trial.

"People like to distill this down to: 'I want you to save this child now,'" Kenneth Moch, chief executive of Chimerix at the time, said in an interview. "But it was not only Josh (we had to consider); it was the many Joshes. For example, if the drug were made available to Josh, would we say no to the next child? Where and how do you set these limits?"

A movement has begun in several states to address the issue of access to experimental medicines. Called Right to Try, laws have been passed in Colorado, Missouri and Louisiana, and are slated to be on ballot in the fall in Arizona. They aim to facilitate patients' access to experimental medicines by eliminating the need to get the FDA's go-ahead, provided the compounds have been through the initial round of safety testing in phase 1 clinical trials.

"The current process is incredibly cumbersome for sick patients," Darcy Olsen, CEO of the Goldwater Institute, a conservative policy organization that designed the legislation, said in an interview. "The Right to Try laws make it so that as soon as a doctor tells a patient there is a promising drug for you, the patient can then go out right away to the company and seek that approval, and that's going to cut down on the time that patients have to wait enormously."

As Goldwater and other supporters lobby for Right to Try, Olsen said she expects that those laws will be in at least half the United States by this time next year.

‘Right to beg’

Critics, though, say the laws are misguided by focusing on the FDA. The agency says it can approve urgent requests in as quickly as 24 hours. And of 977 applications for compassionate use made to the FDA in fiscal 2013, all but three were granted.

"The major roadblock isn't a bunch of pointy-headed bureaucrats in Washington saying, 'No, no, no,' to the dying; it's that there's nothing that mandates that a company, big or small, give this drug that they might have to a terminally ill person," said Arthur Caplan, director of the division of medical ethics at NYU Langone Medical Center. "And the laws don't do anything to guarantee that the drug company, large or small, is going to give you something."

Applications for Expanded Access (2010-2013)

Total requests
Total allowed
% allowed
2010 1030 1014 98.45%
2011 1200 1199 99.92%
2012 940 936 99.57%
2013 977 974 99.69%
Source: FDA

Caplan said he thinks of the laws as "Right to Beg," rather than Right to Try. And that what's needed instead is funding to help patients pay for treatment and travel as well as legislation to protect companies if they give their drugs on an emergency basis and something goes wrong.

"We need to institute a two-track system where if you took a drug as a terminally ill person, sure, we want to know what happened, but we don't want to count it against the approval process that the drug company's trying to push forward," Caplan said.

There aren't data counting how many requests are made to companies for compassionate use—the FDA's tallies include only those that companies agree to. Genentech said it's received more than 100 applications for its experimental immunotherapy drug, the one Nathalie Traller is seeking to try, known by its target, PD-L1. Thus far, Genentech doesn't have a compassionate use program for it, though it does have a program for another therapy.

Nathalie Traller with her mother, Vicki, outside the NIH Clinical Center in Bethesda, Maryland, in October 2012.
Source: Traller Family
Nathalie Traller with her mother, Vicki, outside the NIH Clinical Center in Bethesda, Maryland, in October 2012.

"Limited supply for anti-PDL1 is one reason why we do not currently have a compassionate use program for anti-PDL1, but there are other considerations, such as the stage of development, our need to enroll clinical studies of the medicines, and the added complexity of needing a diagnostic," Edward Lang, a Genentech spokesman, said in an email. The company pairs use of its medicine with a diagnostic test for a certain marker on tumor cells. Nathalie recently tested positively for the marker, Nathan said.

Read MoreImmuno-what? How these cancer therapies work

Bristol-Myers said it doesn't comment on individual patients, but noted that it "recognizes that outcomes for pediatric patients with recurrent or metastatic tumors remain poor" and said it's committed to studying its cancer drugs in those patients. The company said it does have programs offering the drug on expanded access, another term for compassionate use, to adults with melanoma.

"However, because there are no data that establish the benefit/risk profile of nivolumab in pediatric tumors, access through expanded access or compassionate use is not available," Sarah Koenig, a spokeswoman for the New York-based drugmaker, said in an emailed statement, referring to its immunotherapy drug in testing. "We understand the urgency for this population and are working with regulatory agencies to begin development of carefully conducted clinical trials in pediatric patients."

Merck also has a program to provide its drug, pembrolizumab, through expanded access. But it's limited to patients with advanced melanoma "because that is the only patient group where we believe we have enough data on safety and efficacy," the company says on its website.

Looking for support

"We're just really determined. And we want to make it happen. So we're going to try with everything we have to get that medicine." -Nathalie Traller

The Trallers, because of Nathalie's age and the rareness of her cancer, say they feel they're outside the system.

"We reached a point as we learned more that there might be some things that could help Nathalie," her dad said. "But the way the system was built, she couldn't access it. We realized it was a lot bigger than us. And that we might just need to tell her story and gain support."

So they began a social media campaign, taking cues from myriad other patients and families who have been through the same thing.

One was Andrea Sloan, a 45-year-old woman with ovarian cancer who last year asked BioMarin for access to its experimental drug, BMN-673, which her doctors had identified as the best potential option to help her. BioMarin declined, saying the compound was too early in trials and that not enough was known about its safety and appropriate dosing.

"We implement expanded access programs when we have substantial scientific evidence to support both the safety and the efficacy of a product for an indication," the company said in an emailed statement. BioMarin had such a program for its medicine Vimizim, for a rare disease, before it was approved earlier this year. The drug Sloan was seeking, BioMarin said, "is in the early stages of development," and doesn't yet meet that criteria.

Sloan's family and friends took her story to Facebook and Twitter, and a supporter started a petition on Change.org, which has served as a platform for many similar campaigns since. It garnered more than 234,000 signatures. Former House Speaker Newt Gingrich supported her cause in a blog post.

Andrea Sloan enjoying time with her beloved horse Heathen.
Source: Michelle Wittenburg
Andrea Sloan enjoying time with her beloved horse Heathen.
Andrea Sloan, an ovarian cancer patient, in the hospital with her mother.
Source: Michelle Wittenburg
Andrea Sloan, an ovarian cancer patient, in the hospital with her mother.

"When the door's slammed in your face and your life is on the line, you can't just go, 'OK, I lost this one, I'll come back again,'" Sloan's friend Michelle Wittenburg said in a telephone interview. "You have to keep persevering."

Sloan ultimately got access to another medicine in the same class, known as PARP inhibitors, from a company that insisted on anonymity—Wittenburg calls it the "white knight pharmaceutical company."

It took eight weeks, though, for Sloan to get the first course of that drug, and her health deteriorated rapidly, Wittenburg said. Yet about two months after her first dose, the medicine appeared to be working.

"The scans were clean," Wittenburg said. "She had gained back 10 pounds."

But pneumonia ultimately struck, and Sloan passed away on New Year's Day.

Two months later, the issue of compassionate use was back in the headlines. A 7-year-old boy named Josh Hardy contracted a viral infection after receiving a bone marrow transplant to treat his cancer, which he'd battled since he was 9 months old. Chimerix's antiviral medicine, brincidofovir, was still in clinical trials.

The company had received hundreds of applications for compassionate use of the medicine before the Hardy's. Josh's, though, gained widespread media attention. The pressure on the company became so severe that Moch, the CEO, had an armed security detail for a week in response to threats he and his wife received.

Eventually, Chimerix agreed on a plan with the FDA to start a new clinical trial, of which Josh would be the first patient. The medicine cleared his viral infection and Josh is recovering—though he still has a "tough road ahead of him," according to his uncle, William Burns.

The issue of who gets a drug and who doesn't, though, raises questions of inequity in the system. Patients whose stories are more appealing or who have more social media savvy may attract more attention than others with equal need.

"It isn't a fair system," NYU's Caplan said. "It favors the people who know how to be noisy."

A month after the company found a path forward for Josh Hardy, Moch—the public face of the controversy—was replaced at the helm by the company's chief medical officer. Chimerix said he resigned to pursue other interests. Moch declined to comment on the reasons for his departure.

Making their case for compassionate use
By: Robert Ferris

Josh Hardy

Josh Hardy, an 8-year-old from Fredericksburg, Virginia, was diagnosed with rhabdoid tumors on both kidneys when he was 9 months old. He has been fighting cancer ever since, his uncle, William Burns, told CNBC.

Over time, doctors said, the aggressive treatments weakened his immune system and resulted in a bone marrow failure disorder called myelodysplastic syndromes, or MDS. To combat the MDS, doctors gave Josh a bone marrow transplant, but he developed a viral infection soon after.

After attempts to clear up his infection began to damage Josh’s kidneys, his doctor appealed to Chimerix to release its experimental antiviral drug brincidofovir (CMX001) to treat him. When the company denied the request, Josh’s family and friends initiated a campaign on Facebook, Twitter and in the press. Eventually, Chimerix set up a new clinical trial for the drug, and made Josh "Patient #1," Burns said.

After the first dose in March, his condition improved. Josh has a "tough road ahead of him,” Burns said. He has to get his strength back and suffers from gastrointestinal and other issues, but the infection is gone and he is expected to make a full recovery, Burns said.

Chloe Drury

At age 15, Chloe Drury, of Surrey, England, went to the doctor complaining of a pain in her leg, and found out she had a rare form of bone cancer called Ewing’s sarcoma, her mother, Debbie Binner told CNBC. Traditional cancer treatments were unsuccessful.

After hearing about BioMarin’s PARP inhibitor, an experimental drug that had shown promise, Chloe tried to sign up for the drug’s trial when she was 17. The company refused her, citing her age, her mother said. Trial participants needed to be 18.

Binner enlisted the help of cancer activists and repeatedly petitioned the company to reconsider. Soon after Chloe’s 18th birthday, the company allowed her to take it, but by this time, the cancer had spread to her lungs and taken an irreversible toll on her body, Binner said. Chloe passed away two weeks after starting treatment.

Mikaela Knapp

Mikaela Knapp, of Folsom, California, was 24 years old when she was diagnosed with a rare form of kidney cancer called translocation renal cell carcinoma, her husband Keith told CNBC. At the time, Keith and Mikaela, high school sweethearts, had been married for two years.

Mikaela petitioned three drug companies for access to experimental immunotherapy drugs known as anti-PD-1/L1 drugs.

Bristol-Myers Squibb and Genentech rejected the requests, but the third, Merck, had a compassionate use program for some forms of cancer, Keith said.

The company spoke with Mikaela’s oncologist, but did not release any of the treatments, according to Keith.

To build support for their cause, the couple posted a petition on Change.org, kept up a blog called WEGOTTHIS and created a Facebook page and a Twitter feed. Despite their efforts, Mikaela died this past April at the age of 25.

Austin and Max LeClaire

The LeClaire brothers--Austin 15 and Max 12—were born with Duchenne muscular dystrophy, a genetic disorder that is caused by the absence of the protein dystrophin.

About three years ago, their mother, Jenn McNary, signed the boys up for a trial of a drug from Sarepta Therapeutics, she told CNBC. Max was admitted to the trial, and has thrived far beyond expectations while on the treatment. But Austin was turned away—the disease already confined him to a wheelchair and his inability to walk was a disqualifying factor in the study, she said.

McNary turned to Facebook, newspapers and other media outlets with her story, in the hope of getting Austin access to the drug. She and other activists circulated two separate petitions—one to the Food and Drug Administration and another to the White House—to accelerate the approval process for the drug, eteplirsen. More than 100,000 people signed the White House petition, prompting the FDA to meet with Sarepta executives and outline a path for eteplirsen’s early approval, McNary said. The FDA has also asked for a large safety trial that will include nonambulatory patients like Austin, she added.

McNary said she continues to lobby for her sons and other Duchenne patients, and recently moved to Massachusetts to take a job as a director of outreach and advocacy at the Jett Foundation, which raises awareness about the disease.

Andrea Sloan

Andrea Sloan, 45, of Austin, Texas, had battled ovarian cancer for seven years when her doctors identified an experimental drug from BioMarin Pharmaceuticals as the best hope to potentially help her. When the company declined to provide access through compassionate use, Sloan and her family and friends took to Change.org, Facebook, Twitter and other social media. Another, anonymous, company working on a drug in the same class, called PARP inhibitors, ultimately provided access, but it took eight weeks for Sloan to receive treatment, her friend, Michelle Wittenburg, told CNBC. On the medicine, Sloan showed vast signs of improvement, Wittenburg said, but Sloan passed away of pneumonia on New Year’s Day.

Joey Xu

Two weeks after his ninth birthday, Joey Xu, of Gainesville, Florida, was diagnosed with a tumor in his kidney, the result of a rare cancer, translocation renal cell carcinoma, his mother, Kathy Liu told CNBC.

The condition is so rare among children that there aren’t any pediatric specialists for it in the U.S., and no standard treatment protocols, she said. After a year of treatment, including two major surgeries, several courses of chemotherapy and other drugs, his tumors have grown and spread throughout his body. He has trouble eating and may soon have difficulty breathing. His mother regularly gives him prescribed morphine to help him manage the constant pain.

The family and his doctors have been petitioning three major drug companies—Bristol-Myers Squibb, Genentech and Merck—to release experimental immunotherapy drugs. To help spread the word about Joey’s case, his family has a Facebook page, a blog called TeamJoeyX and a petition at Change.org.

Now 10 years old, Joey’s oncologist does not expect him to survive the summer unless a new treatment option emerges, his mother said.

"A lot more companies had their eyes opened directly as a result of what happened with Chimerix," said Tony Plohoros, who runs the media relations company 6 Degrees PR and worked with Chimerix during the Josh Hardy controversy. "Companies are now redoubling their efforts" to be prepared for these situations, Plohoros said, noting he's discussed it with several private and public companies developing treatments for rare diseases.

That may not necessarily involve immediate changes that make more drugs available through compassionate use, though, Plohoros said. Companies are focused on making sure they have policies and guidelines about compassionate use in place that they vet both internally and externally, through patient groups and bioethicists, so that they can hold firm if they find themselves the subject of a powerful social media campaign.

For patients like Nathalie Traller, that won't do.

"We don't have all the time in the world," she said in an interview in Portland. "Every day that we don't do something or we don't try to fight the cancer, that's another day that the cancer can grow and get worse. So we just always feel that in the back of our minds, that pressure that there is a time limit."

Plenty of risk, and long odds

To be sure, compassionate use is not without risks—in fact, that's one of the reasons companies often cite for not providing their drugs. NYU's Caplan points out experimental drugs can in fact make a bad situation worse and only rarely have positive outcomes like Josh Hardy's.

"In my experience, and I've been involved in a lot of compassionate use requests from a lot of dying people, a lot of people becoming disabled, two or three out of hundreds have seen any benefit," Caplan said. "Sometimes people say to me: 'What's the difference, if you're dying? Why not take the shot?' New drugs can kill you faster. New drugs can make you sicker."

There's no guarantee experimental drugs will work, points out Fran Visco, president of the National Breast Cancer Coalition and a survivor of the disease.

"The problem is that the expectations for these drugs are unreasonably high," Visco said in a telephone interview. "The public has this unrealistic faith in what these new drugs are going to do."

Nathalie's oncologist, Lara Davis at OHSU, said she does have concerns about the safety of the medicines the Trallers are seeking to use.

"These drugs are not benign," she said in an interview at the hospital in Portland. "I certainly have concerns about potentially using a medication that we have no information on in such a rare disease like what Nathalie has, because the side effects can be very serious, potentially life-threatening."

Still, she said, Nathalie's disease is "truly relentless," and that use of immunotherapies may make scientific sense for her.

Nathalie and her family say they understand the risks, and they're willing to take them based on the advice of their doctors.

"As a parent, I read through each line of those consent forms. Some people don't realize that you do sign off and you give consent and you don't hold anybody liable for what happens with experimental medicines," Nathan said. "What we do know for sure, is we know exactly what Nathalie's disease does when it's unchecked. And it's excruciating pain. It's things that limit her. And with some of these new medicines, actually the risk is less than other medicines in the past."

Nathalie's been through tough treatments before, ones that make her feel sick every morning. She described nerve damage and having weakened arms and legs, but determining to push through.

She and her dad told a story about one stay in the hospital when her cancer flared up, and Nathalie discovered that 20 laps around the unit made a mile.

"She was pushing her pole to get her mile a day," Nathan said, smiling at the memory. "There's been so many times where she's sort of beaten the recovery timelines because she is just persistent in that way. And so—I'm proud of her."

Nathalie participating in the Northwest Sarcoma Foundation's annual Dragonslayer Walk for Sarcoma in September 2012.
Source: Facebook | 4Nathalie
Nathalie participating in the Northwest Sarcoma Foundation's annual Dragonslayer Walk for Sarcoma in September 2012.

Age: Where to draw the line

The Trallers have supporters across the country through their social media campaign, but also an important force at home. Brian Druker, director of the Knight Cancer Institute at OHSU and a major force behind development of the seminal leukemia drug Gleevec, has adopted Nathalie's cause. He's working with colleagues at the National Institutes of Health to get Nathalie into a clinical trial they're hoping to start this summer or fall.

But he also railed against clinical trial programs that don't consider options for younger patients, describing how he had lobbied Novartis, the maker of Gleevec, to open its trials to kids, which ultimately led to FDA approval for them. Teens can be in a particularly frustrating spot when it comes to clinical trials, when just a few months can keep them from participating. Such was the case for Chloe Drury, who was three months from her 18th birthday when she tried to enter BioMarin's clinical trials to treat her Ewing's sarcoma. The company admitted Drury to the trial once she turned 18, but she died two weeks after starting treatment.

Druker and others note that kids aren't just little adults, and there are complicated issues—both biological and legal—that make studies in minors more difficult. Druker said his goal for Nathalie would be to also open a pathway for others in her same situation.

"I wouldn't say let's only treat this one person. What I would say is let Nathalie become an example for: 'Why aren't we treating more children at age 15 on a study?" Druker said. "Let's get access not just for Nathalie, but for the next parent who has a child who's 15. And the next one, and the next one. Because we know there's going to be more."

With the number of public pleas mounting—Andrea Sloan, Josh Hardy and Nathalie Traller are only a few of them—and legislative action like Right to Try taking shape across the U.S., pressure is building on the system to change.

In June, three U.S. senators sent a letter to FDA Commissioner Margaret Hamburg seeking information about the compassionate use system. And Rep. Michael McCaul, a Republican from Texas, is supporting legislation in the House that would lead to a review of compassionate use by the Government Accountability Office. Outside the U.S., a movement is mounting in the U.K., backed by Maurice Saatchi, founder of the eponymous advertising firm. Called the Medical Innovation Bill, or informally the Saatchi Bill, it aims to enable doctors to consider using unapproved medicines in situations where they make scientific sense.

The compassionate use system, of course, is not limited to patients battling cancer—the concept originated amid the HIV and AIDS crisis in the 1980s, and then was adopted by breast cancer patients seeking use of the drug Herceptin in the 1990s. Recent pleas for compassionate use have spanned diseases from Duchenne muscular dystrophy to amyotrophic lateral sclerosis, also known as Lou Gehrig's disease.

Two years ago, Biogen Idec, a Cambridge, Massachusetts-based company that's developed several drugs for multiple sclerosis, was testing a medicine for ALS that showed some promise in a mid-stage trial. Requests for the drug on compassionate use or expanded access poured in. ALS is a degenerative disease with no major treatment options, and patients usually die within three to five years of diagnosis. Yet Biogen said no.

"It's an agonizing process to go through," said Doug Williams, Biogen's head of research and development, in an interview in Cambridge. "The challenge, and what we try to remind ourselves of, is that an individual situation, while difficult and heart-wrenching, has to be weighed against the backdrop of what the ultimate goal is, which is to try to bring these drugs to market to treat the broadest cross section of the population as quickly as we can possibly do it."

The FDA allows compassionate use or expanded access on the condition that the programs don't slow down clinical development of a medicine. And that's a concern for drugmakers: who would enroll in a clinical trial where they risk getting a placebo if there's a sure route to getting the drug?

"It's a fairness issue that we've really struggled with," Williams said.

Meanwhile, as Biogen was running its phase 3 study—the last stage generally required before applying for regulatory approval—it made plans to offer the drug through expanded access if the results were positive. It designed a program that took into account the views of patients and advocates, what was known about the medicine's safety and efficacy for establishing who would qualify, ethical allocation policies and a plan to be transparent in its communications, according to a document provided by the company.

If the study was positive and the last step was just the go-ahead to market the medicine, Biogen planned to provide the medicine for free for 5,000 patients until it received approval. (Under FDA rules, companies are allowed to charge for investigational medicines on expanded access, but not more than the cost of manufacturing and making the drug available to patients.)

When the study results came in, they showed the drug provided absolutely no benefit to ALS patients. Biogen ended the program. The suggestive signal in phase 2, which made so many patients seek to try the drug immediately, didn't bear out in the larger study.

Yet for patients without treatment options, waiting for the clinical trial process to run its course can be untenable. And at times that pressure shifts from drugmakers to the FDA.

In July 2012, Sarepta Therapeutics reported data showing its drug, eteplirsen, may help stem the declines in boys with Duchenne muscular dystrophy that can put them in wheelchairs by their teens. The drug had been tested in just 12 patients. The DMD community rallied the company for access outside clinical trials.

Sarepta, a small drugmaker working on its first medicine, wrote an open letter saying it couldn't produce enough of the drug to meet demands of patients outside the study. Since then, the community's efforts have shifted to the FDA in demands to get the medicine to market faster, CEO Chris Garabedian said in an interview. Two years later, the company has just reached an agreement with regulators to start the next phase of studies and apply for regulatory approval.

Any delays individual patients face can come with heartbreak. Jenn McNary has two boys with Duchenne—which primarily affects boys because of the way it's inherited. Her younger son, Max, entered Sarepta's trial. Her older one, Austin, was barred because he already couldn't walk.

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McNary has described watching Max continue to walk past when he'd be expected to require a wheelchair—and also how Austin continues to get worse.

"How do you say, 'We're trying to ensure the integrity of this development program so it can benefit hundreds or thousands of patients' when a family with a small child may die?" said Plohoros, the advisor to several biotech companies on compassionate use communications. "Many companies want to make a rational argument in what really is an emotional situation. You can't win if you're a company trying to make a rational argument."

Nathalie Traller swims with a dolphin during a trip to Hawaii, sponsored by the Make-A-Wish Foundation, in August 2012.
Source: Traller Family
Nathalie Traller swims with a dolphin during a trip to Hawaii, sponsored by the Make-A-Wish Foundation, in August 2012.

And what seems rational to a company may feel unfathomable to patients and families on the other side. The Trallers are hopeful that the system will change, that trials will start to be open to patients based on different criteria than age, or that new regulatory incentives could drive companies to consider compassionate use or expanded access. But they don't know if those changes will come before it's too late for Nathalie, and as time passes with no budge from Genentech, Bristol-Myers or Merck, their urgency grows.

"We're not, like, mad or angry," Nathalie said. "We're just really determined. And we want to make it happen. So we're going to try with everything we have to get that medicine."

Read MoreSarepta shares fall on muscular dystrophy drug data
Read MoreWhere we stand in the fight against cancer
Read MoreWhy there's no end in sight for higher drug costs

—By CNBC's Meg Tirrell

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