Carl Luepker was 10 years old when he first noticed his right hand twitching slightly when he played piano. It was like it had a mind of his own.
When he was 12, doctors diagnosed him with a degenerative nerve disease called dystonia. The disorder causes nerves in the brain to misfire, causing uncontrolled muscle spasms that get worse over time.
By the time I met Carl in college in 1991, his hand spasms had gotten bad enough that he couldn't play piano at all. But he kept it pretty well hidden. He was the kind of guy who led a mock rock band called Cheshire Cat. I remember him straddling the mic stand and singing "Foxy Lady," his wide grin framed by flailing red hair.
But the dystonia kept spreading and eventually started to affect his speech. "I started to sound more and more like Chewbacca," he says.
He can joke about it, but it's been very painful. Now, at age 45, he's not the extrovert and life of the party that he once was. He tries to speak and his mouth and jaws clench and spasm. Still, Carl has powered through life. He became a sixth-grade school teacher. He found ways to adapt, like using an interactive whiteboard to communicate with his students. "I never wanted to be considered disabled," he says.
After he was married, Carl, who lives in Minneapolis, Minn., was getting a physical and contemplated getting a blood test to find out the cause of his dystonia. He and his wife, Heather, wanted kids. If Carl's dystonia was genetic, he could pass it on to his daughter or son. "Heather turned to me and said, 'Whatever he has, we're gonna love him just the same,' " he says.
So they never got the gene test and had two children, Liam and Lucia. Still, Carl worried. "I'd always looked for it in my kids. I looked for signs. It was my worst fear," he says.
When Liam was 10 years old, Carl noticed his hand cramping during violin lessons. Then he tripped going up the stairs. Carl was sure he saw his foot twitch under him.
Carl took Liam to a neurologist. "I had to intervene during his examination and say doctor, let's have him walk on his toes, and he couldn't," he says.
Liam remembers the day he was told he also had dystonia. "I kind of knew what was gonna happen, but it still shocked me," he says now, at age 12. "I was just overcome, not with fear but anxiety. I had so many questions. What will happen to my kids? What are the chances of it getting worse? All these thoughts poured into my mind the instant the doctor said what he said."
Since Liam's dystonia started in his foot, it's very possible he could end up unable to walk. "It hit me hard," Carl says. "Do I feel shame that he inherited this? Of course."
Liam's pain got so bad he started wearing an ankle brace to calm the spasms in his leg. He had watched his father decline to the point that he had trouble cutting his food. Liam can already feel himself losing things that he loves to do — like skateboard. He tripped and then got so frustrated he smashed it on the sidewalk.
Liam knew that he could become unable to walk, and he feared the worst: "That I won't get cured and I'll have to live my whole life with this horrible disease."
Carl began looking for treatments that could help Liam. He himself had tried drugs, but they blurred his vision and didn't help with the movement symptoms. One treatment made it to the top of his list — it looked exciting, but also scary. It's a treatment called deep brain stimulation, or DBS. In the past few decades, it's been also used to treat Parkinson's and depression, but it requires brain surgery.
Doctors implant electrodes deep into the brain to calm the neurons that are misfiring. The electrodes stay there forever, like a pacemaker for the brain. In one randomized trial, people with the device had a 39 percent reduction in symptoms, compared to 4 percent in those who had sham surgery. It does seem to work better in people who have the hereditary form of dystonia. Carl came to believe that it was the best hope that Liam could live a normal life.
Carl planned to try the surgery first. He can't ask Liam to do something this scary without experiencing it himself. "I have no choice; I have to get this surgery done."
So last December, Carl sat down in the office of his neurologist, Dr. Jerrold Vitek at the University of Minnesota in Minneapolis, to talk about the surgery. It's not an easy decision to let a doctor drill a hole in your skull and put electrodes deep in your brain. Carl talked about his three biggest fears: death, loss of cognition and behavioral changes.
Vitek told him that the biggest risk was from bleeding that could cause brain damage — about a 1 to 2 percent chance. "That's the greatest risk. The chance of benefit is marked. the vast majority of people will benefit."
Decades ago, scientists tried to treat dystonia by operating on the part of the brain that was malfunctioning, destroying the tissue. Sometimes symptoms went away, but sometimes people got much worse. Vitek says there's a reason doctor's would be willing to try something so brutal. "One word will answer that — desperation," he says. "And people get desperate. Desperation will lead you to try things that maybe you wouldn't normally try."
Things have improved a lot since then. The Food and Drug Administration allows DBS for dystonia under its humanitarian use exemption, designed for rare diseases or conditions where fewer than 8,000 people a year are treated. But the surgery is still no simple undertaking.
On Jan. 10, Carl went into surgery. They drilled a hole in his skull and then slowly eased the electrodes a few centimeters into the brain.
They guided the electrodes to the right area by listening — they literally pick up the sounds of nerves firing. The activity in different areas of the brain sound distinct.
Carl was awake the whole time. There are no pain receptors in the brain and the surgeons needed Carl to be conscious so they would know it's not causing debilitating side effects.
Liam was at school that day. "Well, actually, I was so anxious, just thinking every moment ... every cut, every stitch," he says. "I could kind of feel it. And I threw up at school that day, actually."
In the operating room, they inserted the electrodes into the correct area of Carl's brain. Then they turned on the electrodes and asked Carl how it felt. "It's kind of like putting your tongue onto a battery," he says. "It felt like that kind of electricity."
The surgery was a success — no brain bleed. I visited him a few months later. He showed me the remote control that he uses to turn on and off the electricity in his brain. "It's off now, and now my hands are cramping up there," he says. When he turns it back on, I can see his hand relaxing. But it didn't significantly reduce his symptoms. He says he feels less pain through the day and is more coordinated with his right arm. But his speech is still garbled. Vitek, his neurologist, says that's because the electrodes are in the left side of his brain — which most directly controls his right arm. It would take another surgery to target his mouth and jaw muscles.
But Carl also got what he hoped for. After his surgery, his son Liam decided to get DBS. In June, he flew to the University of California, San Francisco, where they could do the surgery in an MRI so that Liam wouldn't have to be awake.
I hadn't seen Liam for around 10 months. Back then, he was in constant pain from muscle cramps in his foot and was wearing a ankle brace.
When I visited Liam again this September, he whizzed by me on a skateboard --- pushing with the same foot that had been in a brace. I asked him how he felt. "It feels like I've never had dystonia," he said with a wide grin.
It's a bit of a mystery why the surgery worked better for Liam than Carl. Doctors suspect it might be because he's younger and his disease is less advanced. DBS hasn't cured Liam, but it has given him the ability to control the symptoms and hopefully stop them from getting worse. "I think that it's gonna halt the progression or at least that's what the doctors say," he says. "If I'm feeling as good as I am now, for the rest of my life? That would be pretty amazing."
When Carl was growing up, he just had to accept that the dystonia would rob him of things he loved to do. But Liam doesn't have to think that way.
And he's given Carl new hope, too. In November, he returned to have an electrode placed on the other side of his brain to see if it would improve his speech — he should know if it's going to help by February. This one, he says, is for himself.
RAY SUAREZ, HOST:
How much would a parent risk to help a sick child? It's something none of us can know until something happens. NPR's Michael May has the story of a father who had a decision to make when he realized he'd passed on a disorder to his son.
MICHAEL MAY, BYLINE: Carl Luepker was 10 years old when he first noticed his right hand twitching slightly when he played piano. It was like it had a mind of its own. Doctors diagnosed him at 12 with a degenerative nerve disorder called dystonia. It causes nerves in the brain to misfire, leading to uncontrolled muscle spasms. They get worse over time.
When I met Carl in college in 1991, his hand spasms had gotten bad enough that he couldn't play piano at all. But he kept it pretty well-hidden. He's the kind of guy who let a mock rock band called Cheshire Cat. I remember his wide grin, wild red hair. He always had people laughing. Here he is speaking at his wedding at age 30.
(SOUNDBITE OF ARCHIVED RECORDING)
CARL LUEPKER: Providing comfort with comfort support.
MAY: The dystonia kept spreading. And eventually, it started to affect his speech.
C. LUEPKER: Yeah, I started to sound more and more like Chewbacca.
MAY: Carl can joke about it, but it's been very painful. He's not the extrovert and life of the party that he once was. He tries to speak, and his mouth and jaws clench and spasm. Still, Carl has powered through life. He became a sixth-grade schoolteacher. He found ways to adapt, like using an interactive whiteboard to communicate with his students.
C. LUEPKER: I never wanted to be considered disabled.
MAY: He never wanted to be considered disabled.
After he was married, Carl was getting a physical. And he contemplated getting a blood test to find out the cause of his dystonia. He and his wife Heather wanted kids. If Carl's dystonia was genetic, he could pass it on to their daughter or son.
C. LUEPKER: Heather turned to me and said - whatever he has, we're going to love him just the same.
MAY: Carl had never let dystonia run his life, and he wasn't about to start. So they never got that gene test. They had two children, Liam and Lucia. They both sport a shock of red hair, just like their dad. Carl watched his kids grow. His daughter runs cross-country. His son loves to draw. Carl didn't worry that much about dystonia until his kids reached around 10 years old. That's when Carl developed dystonia.
C. LUEPKER: I've always looked for it in my kids. I worked for signs. It was my worst fear.
MAY: He never noticed anything with Lucia. But when Liam was 10 years old, Carl noticed his hand cramping during violin lessons. Then he tripped going up the stairs. Carl was sure he saw his foot twitch under him. It was a small thing. Most parents wouldn't have noticed. But Carl, he immediately took Liam to a neurologist.
C. LUEPKER: I had to intervene during his examination and just say - doctor, let's have him walk on his toes. And he couldn't.
LIAM LUEPKER: I kind of knew what was going to happen, but it still shocked me.
MAY: Liam remembers the day he was told he had dystonia.
LIAM: I was just overcome with - not fear but anxiety. I had so many questions. Like, what would happen to my kids? What are the chances of it becoming worse? All these thoughts into my mind poured the instant the doctor said what he said.
MAY: At this point, it's just affecting Liam's left foot and his hand. But it's an insidious disorder. Since Liam's dystonia started in his foot, it's very possible he could end up unable to walk.
C. LUEPKER: It hit me hard. And did I feel shame that he inherited this? Of course.
MAY: Up to this point, Carl had been trying to live a normal life and just ignore the dystonia as much as possible. But now Liam's dystonia has become the center of his life. He quit his job, went on disability. He focuses on Liam full time.
Parents can have a tough time relating to their kids' struggles. But in this case, Carl truly understands what Liam is going through. For example, Liam's been singled out at school for having a weird walk. Carl knows it bugs him, so they talk it out.
LIAM: I want them to know that I want them to still treat me like they treated me before.
C. LUEPKER: You feel like people treat you differently?
LIAM: Only if they know what it is. If they know what it is, they feel more empathetic, which, surprisingly, does not make me happier because I wanted to be treated like a normal kid.
(SOUNDBITE OF PINGPONG BALL BOUNCING)
MAY: But it's not all hard conversations. They play a lot of pingpong - a lot. And they're both good players, completely fluid. Liam's winning this round.
C. LUEPKER: No.
MAY: Carl has discovered that dystonia doesn't affect his reflexes, just one of the things he's able to pass on to Liam.
LIAM: I've watched my dad, and one thing that he taught me is to adjust to new conditions. It's like finding new ways to get around obstacles.
MAY: Carl's doing all this for Liam, but he's also doing it for himself. He's working to find a productive way to channel the guilt he feels. He doesn't want Liam to absorb his sadness. But it doesn't always work. During one of their recent conversations, Liam picked up on it.
C. LUEPKER: You sensed I was sad or I was heavy. And you just said - out of the blue - it's not your fault. And it helped me believe that in that moment that that was true.
MAY: And of course, Liam doesn't blame his dad for his dystonia.
LIAM: I realized it wasn't your fault because it passed down much further than you.
MAY: It's bittersweet to be sure. But this tragic situation has had a powerful impact on their relationship.
LIAM: More connection - we're connected through bonds of pain, I guess. We understand each other more than anyone else does.
MAY: Carl's done a remarkable job preparing Liam for life with dystonia. But there's only so much he can do. Liam's pain is getting worse. It's darkened his mood.
So now Carl has begun to consider a risky intervention, a treatment that can stop - even reverse - the symptoms of dystonia. It's called deep brain stimulation. Doctors implant electrodes deep into the brain to calm the neurons that are misfiring. The electrodes stay there forever, like a pacemaker for the brain.
Carl plans to do the surgery first. He can't ask Liam to do something this scary without experiencing it himself.
C. LUEPKER: I have no choice. I have to get this surgery done.
MAY: Carl wants to give Liam courage. He believes this surgery is the best hope that Liam could live a normal life.
Michael May, NPR News. Transcript provided by NPR, Copyright NPR.