The Right to Try

Darcy Olsen

• Verlag: Harper
• Jahr: 2015
• ISBN:
  9780062407542
• Thema: Medicine
• Thema: Health Policy

Why should you need the government's permission to save your own life?

Jenn McNary's two sons, Max and Austin, were diagnosed with Duchenne muscular dystrophy—a fatal disorder that leads to muscle degeneration and eventually death. In a cruel and unnecessary twist, Max received access to a clinical trial; Austin didn't. As a result, Max was able to get out of his wheelchair and play on his school soccer team while Austin continued to deteriorate until he could not even feed himself.

The FDA takes as long as fifteen years to approve a new drug, demanding near-absolute proof of effectiveness before allowing commercial distribution. But this ignores the urgent plight of millions of terminally ill Americans who have run out of approved options—and are running out of time. These patients are not looking for a 100 percent guarantee that a treatment will work for them. They are looking for a fighting chance.

Why can't they have that chance? Why don't they have the right to try... the right to save their own lives?

Author and activist Darcy Olsen, president of the Goldwater Institute, tells the remarkable story behind the Right to Try movement, the national campaign to give dying Americans access to cutting-edge treatments that are under study but still years away from receiving the FDA's green light. The men, women, and children featured in these pages are our own family members, friends, and neighbors. Their heartbreaking, triumphant, and inspirational stories prove the necessity for Right to Try laws. Because everyone deserves the Right to Try.

1.

Sophie’s Choice

How the FDA Let a Mother Save One Son . . . and Left Her Other Son to Die

Imagine the joy of watching your dying son experience a miraculous recovery thanks to an experimental medicine.

Then imagine the horror of watching your other son slowly die from the exact same disease—because the federal government prevented him from receiving the same life-saving treatment as his brother.

That is the nightmare that my friend Jenn McNary has lived for the past three years.

Jenn was a senior in high school when she had her first child, Austin. Three years later, Max came along. Jenn was a single mom, living in Vermont, struggling to support her family. She ran a child-care facility during the day and was studying child development at night school. Life was hard, but she and her young family were getting by. Both her boys seemed to be typical, healthy, happy kids.

Then, one day, Jenn began to notice that Austin was not keeping up with his friends.

“I was learning about all these age-appropriate developmental skills,” she says, “like picking up a ball, standing on one foot, the ability to alternate legs going up stairs.”

Austin was not meeting the developmental marks.

In the day care she ran, when all the other kids were going to the park, Austin was the only one who cried and refused to walk. He began to stumble and fall a lot and seemed to get concussions on a monthly basis. In his first-birthday picture, Jenn recalls, he had a huge bruise on his head from falling into a wall. By the age of three he had broken his arm from falling.

Jenn also noticed that Austin didn’t seem to get up from the floor like the other kids. He would lift up his hips with his hands on the floor and then use his hands to crawl up his legs until he got to a standing position. He had unusually thick, muscular calves. And he crawled up stairs instead of walking like most kids his age.

Something was wrong.

It took her eight months to convince Austin’s pediatrician that there was a problem, but finally the doctor agreed to have Austin tested.

One day, while Jenn was at work, the doctor called her and asked her to come in to the office. Jenn had a day care full of kids and could not get away.

“Can’t you just tell me?” she said.

So the doctor told her over the phone that Austin had Duchenne muscular dystrophy.

“I don’t even know what that is,” Jenn said. “Is that like the Jerry’s Kids thing?”

“Exactly,” the doctor said.

She explained to Jenn that Duchenne was a disorder that leads to muscle degeneration and eventually death. It turned out Austin’s bulging calves were not muscular at all. The muscle was breaking down and being replaced by calcium deposits that made his legs thick and hard. She explained to Jenn that there are actually forty-three different types of muscular dystrophy. Some affect children, but the majority of them affect adults. There are only a handful that are fatal.

Austin had one of the fatal ones.

Jenn asked the doctor what the treatment plan for Austin would be. “Does he need chemotherapy or something? Will he lose his hair?”

“There is no treatment,” the doctor told her flatly.

Jenn was bewildered. After a long pause, she asked, “So what do I need to do?”

“You really don’t need to do anything,” the doctor told her. “There are no options. The disease is progressive and fatal 100 percent of the time.”

Jenn was incredulous. There had to be something she could do. This was America, after all. Certainly in this day and age, we have treatments for everything.

She took Austin to a specialist to get a second opinion. He told her the same thing as her pediatrician. There was no treatment, no cure.

“Frankly, it’s a shame you know this young,” he said. “There is no benefit to you knowing this early.”

“Do we need to do any more testing?” Jenn asked.

“No,” the doctor told her.

“What about steroids? I read about steroid use.”

The doctor got angry with her.

“Why do you want to do that to your kid? It only prolongs the inevitable.”

The inevitable. The word hung in the air.

“So what do I do?” Jenn demanded. She wasn’t just going to sit back and watch her son die.

“Well,” the doctor told her, “when Austin is losing the ability to walk, come back and we will get him a wheelchair ordered, okay?”

Jenn couldn’t believe it. She was supposed to do nothing and pretend she didn’t know Austin was sick until her son lost the ability to walk? That was the plan?

“No, not okay,” Jenn told him, as she stormed out of the doctor’s office.

Jenn immediately began researching Austin’s disease. She had no Internet access at home, so she went to the public library and started reading everything on Duchenne she could find. When she discovered that the disease was genetic, Jenn had her three-month-old, Max, tested—and found out, to her horror, that he also had Duchenne.

“I had this newborn baby who was going to die,” she recalls. “I was the mother of two dying children.”

Jenn became active in the Duchenne community, connecting with doctors, researchers, and other parents at conferences and online forums. And as her boys grew, and the disease progressed, she kept looking for a cure. She told herself, “By the time they are two and five years old there will be a cure.” When there wasn’t a cure then, she told herself, “By the time they are five and eight years old, there will be a cure.” But by the time Austin turned nine and a half, she says, “I stopped thinking there was going to be a cure.” Jenn pulled out of Duchenne advocacy and decided to just love her children while she still had them.

Austin began declining rapidly. But then, just as Austin turned ten years old, hope appeared on the horizon. Jenn heard about a new type of investigational therapy that appeared to be working overseas. There were two companies in London working on something called exon skipping—a treatment that coaxes cells to “skip” over the faulty sections of genetic code that causes Duchenne.

The underlying cause of Duchenne is an error in the gene that produces a protein called dystrophin that is needed to support muscle strength. Without dystrophin, ordinary physical exertion leads to muscle breakdown. As muscle fiber degenerates, children lose their ability to move—and eventually they lose the ability to breathe.

Both Austin and Max were unable to produce this critical protein, because they were missing a section of the dystrophin gene called exon 51.

Scientists in Europe were conducting clinical trials on a therapy for Austin’s and Max’s specific gene mutation, which affects about 13 percent of Duchenne sufferers. The scientists believed they had found a way to coax cells to skip the broken section of the gene that Austin and Max were missing. If they could do that, they might be able to restore the gene’s ability to produce the vital protein.

How does exon skipping work? To understand this better, think of the genetic code for a protein as a sentence. According to Margaret Wahl of the Muscular Dystrophy Association, “Cells have to read the genetic ‘sentence’ in units of three ‘letters’ each” in order to produce the protein.¹

The gene sentence in healthy kids would read like this:

The mad cat ate the fat rat and the big hat.

But kids with Duchenne have a deletion which messes up the three-letter sequence (known as the reading frame) and makes the sentence unreadable. These are called “nonsense mutations” because they turn the sentence into nonsense and make the genetic code incomprehensible.

For example, imagine that in Austin and Max the letters fa in “fat rat” are missing. That makes the sentence look as follows:

The mad cat ate the tra tan dth ebi gha t.

The cells can’t read the sentence beyond the error point. And if they can’t read the sentence, they can’t get the instructions they need in order to produce the protein.

In exon skipping, scientists had found a way to convince the cells to skip the broken exon, or sentence fragment:

The mad cat ate the [tra tan dth e] big hat.

which restores the “reading frame” and produces a shorter but readable sentence:

The mad cat ate the big hat.

The gene is still mutated, but now the shorter readable sentence can produce a shorter but still functional dystrophin protein again.

If this new drug worked, it would transform Austin’s and Max’s deadly Duchenne muscular dystrophy into a much milder form of muscular dystrophy called Becker’s. Their condition would become chronic instead of fatal.

Exon skipping was just the ray of hope Jenn had been looking for. As soon as she heard about it, she hopped on a plane and flew to London, where the CEOs of the two companies that were developing the exon-skipping drug were scheduled to attend a Duchenne conference.

She found them in a corner chatting and went right up to them.

“I said, ‘All right, guys, my kids need this drug, which of you is going to be in the US first?”

The two men told Jenn that they would probably be in North America about the same time, but she’d need to go to Canada to get the drug.

“I said, ‘Okay, Canada it is.’ And I made sure I sent both companies my kids’ genetic reports.”

While she was in London, Jenn also began talking to some of the parents who were participating in the clinical trial.

“All the results were great,” she says. “The parents were very happy.”

But one mom told her a tragic story: Her son had broken his back during the trial for one of the drugs. Because he could not walk, he was disqualified. Researchers measured how well the drug was working by comparing the patients’ ability to walk before and after receiving it. That meant only kids who were ambulatory could participate in the trial.

“She was devastated,” Jenn recalls, “because she was certain that the drug would have done something for her son.”

Jenn’s heart broke for the mom, but the news also terrified her. Austin was still ambulatory, but just barely. If he lost his ability to walk, he would not qualify for the study—just like the boy with the broken back. His window to enter a clinical trial was quickly closing.

Then, suddenly, the window slammed shut. Corporate politics and a patent fight brought the London clinical trial to a halt.² Jenn flew home knowing she would not get access to the promising drug she believed would save her boys. She was devastated.

“Years went by, and I really sort of lost hope again,” Jenn says. “I went gray.”

Within two years, Austin, then twelve, lost his ability to walk. He was now confined to a motorized wheelchair. The process of watching him lose his mobility was absolutely heartbreaking for Jenn.

“At the end stages of walking, they take maybe two or three steps and then the crumple and fall to the ground,” she says. “And there is this really echoing thud that shakes the whole house, because it is dead weight. They walk and then they are on the floor. And they can’t at that point get back up. So they fall to the floor and they are stuck there. And you go and lift them up.”

When Austin finally decided it was time to get his power chair, Jenn says, “It was sort of a relief. He gained a lot of speed! When you aren’t able to walk, and then you get this power chair that goes five miles an hour, it is pretty enlightening and freeing.”

Meanwhile her other son, Max, was now nine years old. He was declining and starting to use a wheelchair occasionally as well. Jenn could see that he would soon lose his mobility, just like his older brother. It was only a matter of time. His window to a cure was closing too.

Then something happened that would change their lives.

One day in 2011 Jenn was on her computer checking Facebook when she saw a message from a friend in the Duchenne online community named Mindy Leffler. Mindy’s son Aidan had been diagnosed with Duchenne in 2006 after he broke his leg playing on a slide.³ He had the same missing exon as Max and Austin.

Mindy posted on Facebook that she was flying Aidan from their home in Bellevue, Washington, to Nationwide Children’s Hospital in Columbus, Ohio.

“Fingers crossed!” Mindy wrote.

Jenn messaged her:

“Fingers crossed for what?”

Mindy wrote back that she was taking Aidan to be tested for admission into a clinical trial for an investigational drug called eteplirsen that was being developed by Sarepta Therapeutics. It was the same exon-skipping technology that Jenn learned about a few years earlier in London, targeting the precise genetic abnormality that Max and Austin suffered from.

The drug had finally made it to America!

But there was a catch. Just like in London, only ambulatory, or walking, patients qualified for the trial.

That meant it was too late for Austin. Only Max had a shot at getting in.

Jenn was determined to get the drug for Max before he lost his ability to walk. “I looked up all my old contacts and started calling,” Jenn says. She began lobbying the hospital furiously, asking them to take a loo...