Jerry Lewis’ work pays off in new drugs for muscular dystrophy … – Allentown Morning Call

For more than four months, Bethlehem blogger Shane Burcaw waited anxiously for a call about his future.

Whenever my phone rings with the hospitals number, my body goes into complete panic nervous sweats, rapid heart rate as I prepare for what could either be the best or worst news of my entire life. Burcaw wrote on his blog, Laughing at my Nightmare.

Spinal muscular atrophy has kept him in a wheelchair since he was 2 years old, preventing him from keeping his muscles. On the blog, Burcaw, 25, shares amusing observations, happy moments and painful experiences with half a million followers. That has led to book deals, speaking engagements and a nonprofit organization that helps people with muscle diseases buy equipment.

In late June, the call Burcaw was waiting for came. He found out his insurance will cover the first drug approved by the government to treat his disease. Spinraza, which costs $750,000 the first year, and $375,000 every year after that.

His first drug injection, which he received a couple of weeks ago, is expected to help him maintain, and maybe even gain, strength.

He said his second would occur around Labor Day, a holiday many associate with efforts to find a treatment for muscular dystrophy, a neuromuscular disease associated with spinal muscular atrophy. Comedian Jerry Lewis, who died in August, spent decades raising money for the Muscular Dystrophy Association through the Labor Day telethon and lobbied Congress for research funding. When he retired, the MDA told the Los Angeles Times that Lewis had raised $2.5 billion for the organization, which funds research into Duchenne muscular dystrophy, spinal muscular atrophy and other related diseases.

About a year before Lewis died, breakthrough drugs for some of those diseases began to hit the market.

Burcaw is trying to keep his hopes from flying too high. But he cant help but imagine how his life might change. He hopes to play video games again, a simple pleasure he lost in the last year to his disease. He hopes to eat and talk without getting tired and giving up. He hopes to lift his arms above his head again.

Its been an odd and confusing, and equally exciting and terrifying and stressful couple of months, he said in a recent interview.

Before I knew about [Spinraza], I had looked 10 years into the future and wondered where Id be physically, if I could sit up right, breathe on my own, or eat on my own, he said. Then comes this drug that basically gives me the guarantee that Ill be able to do all those things down the road.

Spinraza manipulates genes to produce a protein thats lacking in spinal muscular atrophy patients so that the body can keep motor nerves and prevent muscle decay. The drug, developed by Ionis Pharmaceuticals in Carlsbad, Calif., is marketed by Biogen, of Cambridge, Mass. Biogen estimates that about 9,000 people suffer from spinal muscular atrophy.

In the last year, the federal government approved several drugs for degenerative muscle diseases that gave families hope, but they sell at astronomical prices. The cheapest drug, Emflaza, is priced at $35,000 a year and others are closer in cost to Spinraza. The first drug approved last year for Duchenne muscular dystrophy, Exondys 51, costs $300,000 a year. And Radicava, a drug approved in May for Lou Gehrig's disease, costs $146,000 annually.

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Shane Burcaw, seen here at his Bethlehem home, blogs about his life with spinal muscular atrophy. For the first time, a drug is available to treat the disease but the cost is astronomical.

Shane Burcaw, seen here at his Bethlehem home, blogs about his life with spinal muscular atrophy. For the first time, a drug is available to treat the disease but the cost is astronomical. (CHRIS SHIPLEY/THE MORNING CALL)

Drugs for rare diseases such as Duchenne muscular dystrophy and spinal muscular atrophy are sold to as few as thousands of people. That small demand has kept companies from making such drugs. In 1983, a law was passed to encourage companies to develop drugs for rare diseases by providing tax incentives for clinical trials, accelerating regulatory reviews and allowing companies to exclusively produce the drugs for a longer period of time than drugs for common diseases.

Dr. Bruce Cohen, a neurologist in Akron, Ohio, and a fellow of the American Academy of Neurology, said its harder to lower prices for rare disease drugs because companies spend tens of millions of dollars to make a drug that might not break even with six-figure price tags.

There's no good guy or bad guy, he said.

A better way to pay for such drugs, he said, is by spreading the risk equally, meaning all those paying into insurance would absorb the cost.

Some insurance companies have refused to pay for some drugs, citing what they say is insufficient evidence of effectiveness. And some are only willing to pay for drugs for patients in certain age ranges or who arent in advanced stages of a disease. Medicaid and Medicare coverage of expensive drugs varies from state to state and person to person. Pennsylvanias medical assistance program pays for Spinraza, Exondys 51 and Emflaza if patients meet certain medical guidelines. The state has not yet decided whether it will cover Radicava, the newest drug, a state Human Services Department spokeswoman said.

CHRIS SHIPLEY/THE MORNING CALL

Shane Burcaw in August just received the first infusion of the drug that can stop his disease.

Shane Burcaw in August just received the first infusion of the drug that can stop his disease. (CHRIS SHIPLEY/THE MORNING CALL)

Burcaw said that while his insurance will cover the treatment now, that could change in May when he turns 26, the last year young people can stay on their familys health insurance, and has to purchase his own insurance plan.

I feel like I should be celebrating and going wild, but theres all this other stuff to think about, he said.

Financial concerns aside, Burcaw knows that his drug injections can alter his future if they are effective in stopping the disease or saving nerve cells that are about to die.

The younger the patient, the better the drug works, said Dr. Terry Heiman-Patterson, an Allentown neurologist who has been treating Burcaw for many years. The drug can preserve motor nerve cells that keep muscles working, but it cannot revive nerve cells that have died.

CHRIS SHIPLEY/THE MORNING CALL

Shane Burcaw is seen here at home next to a retrofitted van.

Shane Burcaw is seen here at home next to a retrofitted van. (CHRIS SHIPLEY/THE MORNING CALL)

Two weeks after Spinraza hit the market, Heiman-Patterson diagnosed a 6-week-old baby with spinal muscular atrophy. And for the first time in her career, she could tell parents their child had a chance to live a healthy life.

This may be the drug everybodys waiting for, she said.

Once a week, 14-year-old Ethan Pyles lies on his couch as a nurse inserts a syringe through a port in his chest. For two hours, he gets the first and only drug that can potentially slow down his Duchenne muscular dystrophy, a genetic disorder thats deteriorating his muscles and taking away his ability to walk, breathe and take care of himself.

Ethan, a representative for Lehigh Valleys Muscular Dystrophy Association, participated in the clinical trial that led to the approval of Exondys 51 last year. Hes a passionate advocate for the drug, which unlike Spinraza, only promises to slow down the disease and only will help 13 percent of the 9,000 to 12,000 people with Duchenne muscular dystrophy in the country.

Ethan is hoping for more.

Theres no doubt in my mind, before I stop walking or I get my angel wings, theres going to be a cure, he said.

His mother, Sandra Katzin, is more realistic, knowing the disease is fatal.

She leaves the living room when he expresses his hopes.

Mom, stop crying, Ethan tells her.

Since 2015, Ethan, who lives in Reading, has been taking Exondys 51, which Ashutosh Kumar, his doctor at Penn State Hershey Medical Center, says has likely helped him keep enough muscle strength to walk. Typically, people with Duchenne lose their ability to walk by 14, he said.

Hes walking without any support. He comes to the clinic from the parking area without any support. Thats quite significant, he said.

Kumar, a pediatric neurologist who ran a clinical trial for Exondys 51, said the drug could prolong Ethans life from years to decades.

The drug, made by Sarepta Therapeutics of Cambridge, Mass., manipulates genetic material to skip over mutations, allowing the body to make a protein called dystrophin that keeps muscle cells intact.

Duchenne muscular dystrophy is a hereditary genetic defect that prevents a person from making the dystrophin protein. It involves a mutation on the X-chromosome and affects mostly boys because they dont have a second X-chromsome to compensate for the mutation.

The U.S. Food and Drug Administration approved Exondys 51 but still requires clinical trials to prove its effectiveness. The agency said it expedited its approval, despite an advisory panels position against the decision, because of initial evidence of its positive effect on patients, who lack other drug options.

Soon after the approval came, Anthem the largest for-profit managed health care company in the Blue Cross and Blue Shield Association announced it would not cover the drug because the company was not convinced of its effectiveness. Humana, with more than 13 million customers, said it would only cover the drug for patients who can still walk. Highmark, an insurance company that serves the Lehigh Valley, covers Emflaza, Radicava and Spinraza for some people, but has not yet decided whether it will cover Exondys 51, according to a company spokesman.

Sandra Katzin is frustrated by the insurance companies wait-and-see approach.

Time is what our boys dont have, she said.

Her insurance covers Ethans treatment, which totals $600,000 a year. At 160 pounds, Ethan needs a double dose.

Katzin, who works for Berks County, worries about maintaining her insurance and about changes in Medicaid that would add to their expenses since medical assistance pays for the aide who looks after Ethan when his mother is at work.

Our plates are seriously full now, she said. And then we might have more things to worry about regarding if it is affordable, rather than concentrating on trying to heal our children.

Katzin is concerned about more than money. She worries there might not be enough space for Ethan to move around the house in a wheelchair once he cant walk. She worries she wont be strong enough to help him move around. But most of all, she worries about how hell feel once he loses the ability to walk.

It is going to happen. How am I going to handle his emotions when it happens? she said.

Ethan, like most teenagers, tries not to worry.

Never discouraged by his disability, he loves to play basketball, looks forward to gym class and plans to be a marine biologist someday.

He can walk, but not for long periods of time. He uses his arms to lift himself off the couch. He can no longer get up off the floor on his own.

As he waits for the medication to make its way through his body on a summer morning, Ethan watches Discovery Channel. Its Shark Week and hes focused on the ocean, on his future.

Burcaw has grown accustomed to the stares and awkward questions: Why is his head so big but his body so small?

As a teenager, he wondered if he would date and fall in love.

That wasnt a part of my life. Girls were not going to be interested in me because of my wheelchair, he thought at the time.

As an adult, he put up with people who would talk to him as if he were a young child.

As I got older, I realized those types of reactions were really from a lack of knowledge, he said.

He doesnt mind the questions anymore.

He noticed early on that a quip or well-timed joke helped bridge the gap. So he started sharing the humor in painful situations whether about his mission to find the softest food possible or how his X-shaped tattoo doubled as a marker for the Spinraza injection.

Humor has always helped me feel I belong and fit in more, he said. It catches people off-guard when they realize Im funny and it helps them see me in a different light.

Borrowing from the humorous memoir style of David Sedaris, Burcaw began blogging about his life while he was a student at Moravian College in Bethlehem, sharing some of those stories in Morning Call columns. He also began dating at that time and started Laughing at My Nightmare Inc., a nonprofit that he and his cousin Sarah Tunusov run.

Im caring, kind, funny and smart, Burcaw acknowledged.

And people, he has found, are interested in what he has to say.

He contradicts stereotypes about disabled people. He has a job and a girlfriend and hes helping others through the nonprofit, which buys equipment for people with neuromuscular diseases. So far, the organization has given out 32 grants.

People are always shocked I have a job, he said. They dont think I contribute to society.

Mostly, he wants people to know that his life, anyones life, is about more than a disease. And that while lifes problems are inevitable, we can choose to laugh at them.

I have a disease called spinal muscular atrophy that will eventually kill me, he writes in the introduction to his blog. I have been in a wheelchair since I was 2. I love to laugh, and my life is pretty funny. Allow me to share...

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Jerry Lewis' work pays off in new drugs for muscular dystrophy ... - Allentown Morning Call