When Pat Furlong’s sons are diagnosed with a severe type of muscular dystrophy, she’s determined to find answers.

Pat Furlong is the Founding President and CEO of Parent Project Muscular Dystrophy (PPMD), the largest nonprofit organization in the United States solely focused on Duchenne muscular dystrophy (Duchenne). Their mission is to end Duchenne. They accelerate research, raise their voices in Washington, demand optimal care for all young men, and educate the global community. Duchenne is the most common fatal, genetic childhood disorder.   It affects 1:4,600 boys worldwide and has no cure. When doctors diagnosed her two sons, Christopher and Patrick, with Duchenne in 1984,  Pat immersed herself in research, working to understand the pathology of the disorder, the extent of research investment and the mechanisms for optimal care. In 1994, Pat, together with other parents of young men with Duchenne, founded PPMD to change the course of Duchenne and, ultimately, to find a cure. Today, Pat is considered one of the foremost authorities on Duchenne in the world.

This story originally aired Nov. 3, 2017 in an episode titled “Maternal Bond.”

Story Transcript

I’m from Middletown, Ohio.  It’s a place you've never heard of unless you've read the book Hillbilly Elegy. 

My parents are from Germany.  They told me I was from good stock.  I married a physician and we had children, four of them.  I worried about two of them, the two boys, but I pretty much dismissed that they were fine because my husband was a football player for Notre Dame and these little boys would grow up big and strong just like him. 

On sunny days in summer I sat outside with a lot of women on a rock wall that separated driveways and we watched our children play.  Patrick was two, Christopher was four, Michelle, or Mush, was six, and Jenny was eight.  That continued for several years. 

But in 1984 those ages increased by two years.  They were four, six, eight and ten.  When we were watching them on those rock walls they were doing things like somersaults in the grass.  They were trying to ride their Big Wheels.  And Chris, my six-year-old, was really struggling to pedal that Big Wheel.  Uphill was impossible.  Downhill was easier, but still not easy. 

There was a moment I was standing there talking to my neighbors when I heard a bloodcurdling scream.  Chris was in pain.  I ran over and grabbed him.  I checked him for cuts and bruises, but there were none.  But what I saw was a calf muscle that was just expanding in size and redness.  A single calf muscle. 

I carried him into the house, put him on the bed, and watched him all night.  Gave him a little Tylenol, rubbed that little sore leg.  In the morning, when Tom was going to work, he came to the door and said, “Take Chris to see Steve Pledger,” our orthopedic friend. 

I said, “What’s wrong?” 

He said, “Nothing.  I don't know.  But I think he needs to be checked.” 

So that morning, I grabbed Chris, got a babysitter in for everyone else, and we went up to Steve’s office.  He walked into the waiting room and he took one look at Chris and he said, “Duchenne Muscular Dystrophy.”

I'd never heard the word.  I’m a nurse, but I blanked out all pediatrics because children shouldn’t get sick and, after all, I’m from good stock and I married a physician and we couldn’t have any illness in the family.  I just didn’t have any history of it so Plan A was healthy children. 

I said, “So tell me.  What does this mean, this word Duchenne Muscular Dystrophy?” 

He said, “Well, his muscle is missing something.  We’re not quite sure what it is,” it was 1984, “but we know his muscle won’t survive.  So he's not going to walk for a long period of time, probably before he reaches his teenage years he’ll stop.  By the time he's in his teens he won’t be able to raise his arm to his mouth and this is 100 percent fatal.” 

“So what does Patrick look like?” 

I said, “It’s the same body type, two years younger.” 

And he said, “Then you have two with Duchenne Muscular Dystrophy.” 

So I came home that day and by the time I pulled in the driveway the entire neighborhood knew Duchenne Muscular Dystrophy, and probably a lot more about it than I was able to grasp.  That day, I went to the bank because I thought, “Well, I'll just cure it.  I'll just fix it.” 

So my husband was at his office, in tears, and I went to the bank because the bank was giving out a lot of money to doctors.  I borrowed a hundred thousand dollars and signed my husband’s name.  At dinner, Tom asked me what I did that day and I said, “Well, I borrowed a hundred thousand dollars.” 

He said, “Let me get it right.  We’re borrowing for my office, this house, practically for food, and you've added a hundred thousand? 

I said, “Uh-huh, but I could cure this disease.” 

He said, “You won’t.  You can’t.  Nothing can happen.” 

I then ordered in all of the publications. Keep in mind, Al Gore had not given us the Internet, so I had to order publications and it took two weeks.  When the publications came, I circled the PIs of those publications. 

I called one of them in Chicago and I went there and this was a person looking at estrogen because the philosophy was women didn’t get the disease so it must be something related to estrogen.  Isn’t it always? 

So I spoke to him and he said, “You're a desperate parent.  I can’t really talk to you because how could you ever understand science.” 

So I had to rethink what I was doing.  I developed a list of questions and the questions were, “How well is this disease characterized?”  “Where are the gaps?”  “Where is the money?”  “Who’s giving the money?”  And, “Is there a standard of care?” 

I couldn’t go to any more physicians that were going to dismiss me because that wasn’t going to work so I became an imposter.  I was a postdoc looking for a job, or I was a medical student thinking about doing an internship at various neurology clinics.  I went around the world to understand my questions as an imposter. 

I was in the University of Pennsylvania at a lab when the investigator, and before that no one even asked me the question, who said, “Who are you really?” 

And I said, “I’m a postdoc looking for a job.” 

This individual said to me, “Oh, so you know so-and-so from Minnesota?” 

I said, “Oh, yeah, he was one of my teachers.” 

And he said, “He doesn’t exist.” 

So I said, “All right.  I’m a parent.  I want to get everyone together.” 

I'd been visiting, by this time, thirty-five different PIs, and he said, “We’re not coming.  We’re not coming to a desperate parent.” 

So on his desk was Time magazine with French Anderson and Michael Blaese, who had done the first gene therapy experiment and I said, “They're coming.” 

And he said, “How long are you going to lie about this?” 

I said, “No, I promise they're coming.  I promise.  I promise they're coming if you all get together.” 

And he said, “If we all get together and they come, we’ll come.” 

So I left his office, I flew to California to find French Anderson and went to Washington for Michael Blaese.  And I begged them not as an imposter but as a desperate mom. 

They came to that first meeting and they walked up the aisle and said, “In eighteen months we’re gonna cure Duchenne Muscular Dystrophy.” 

And I saw thirty-five scientists decompensate, jugular veins increase, screaming, yelling, “We can’t.  There are no standards of care, there are no critical masses of people that are funded in institutions looking at specific areas, there's an area of gene and cell therapy that has to be investigated, and there's inflammation in this disease that is not being addressed.” 

So I wrote down a business plan.  Centers of excellence, standards of care and a plan. 

Our first investment after I started PPMD, a small organization, was to create to centers of excellence, one at the University of Pittsburgh and one at UCLA.  Pittsburgh for gene therapy, UCLA for inflammation. 

Then I went to Washington to find out why the NIH didn’t seem to care about this rare disease.  I learned that they cared about things that were in law.  So I pounded the pavement in Washington, D.C., and I found some friends: the late Senator Wellstone, Susan Collins out of Maine, and others, Roger Wicker, and they asked me to write a law. 

I didn’t ever know how to write laws and I didn’t remember Civics 101 so I wrote down standards of care, centers of excellence, and a plan that was translated into legislative language.  And in 2001, in the House and Senate it was introduced as a law, as a potential law.  And in December 2001, if George W. Bush did nothing good, he signed the MD CARE Act into law. 

So from then until now we have a $700 million investment from NIH, Department of Defense and the Center for Disease Control in muscular dystrophy.  We have standards of care, we have a disease well characterized, we’re knowing the gaps, we understand the questions, industry is here, forty-six companies are looking at gene and cell therapy, downstream we have twenty-four clinical trials.  So we've made a difference and now we have a $6 billion investment in this disease and we feel like there's hope. 

But my sons didn’t survive.  They died seven months apart.  On September 29, 1995, and April 29, 1996, at the same hour, they died.  One died of pneumonia and one died of a broken heart. 

But I believe from then until now that the universe enabled them to me so I could change one piece of this disease and drive it to therapies for every other boy so that no family would go to their friendly doctor and hear, “There's no hope and no help.” 

They will rather hear that, “We know this disease well, we have standards of care, and that this child will not die in their teens, but today they have a lifespan of thirty years old.  And with the gene therapy opportunities and twenty different kinds of trials and forty-six companies, there is a life that you will live and it will be a good one.  You will be here for a long time and reach your dreams.”

Thank you.