NOEL KING, HOST:
Parents make all kinds of sacrifices for their children, but what do you do when you want to save your child from experiencing the same kind of suffering you have experienced? NPR's Michael May brings us the story of one father who's searching for a way to ease his son's discomfort that's caused by a shared genetic disorder.
MICHAEL MAY, BYLINE: Carl Luepker suffers from dystonia, a disorder that causes involuntary muscle spasms. When I met him 30 years ago, Carl's spasms were in his right hand. Then they spread to the muscles of his face until they garbled his speech. Last December, Carl sat down in the office of his neurologist, Dr. Jerrold Vitek, to discuss a surgery called deep brain stimulation.
CARL LUEPKER: My fears are - obviously, first is death.
MAY: It's not an easy decision to let a doctor drill a hole in your skull and put electrodes deep in your brain.
LUEPKER: Those are sort of my three biggest fears, are death, loss of cognition and any behavioral changes I might incur from the procedure.
JERROLD VITEK: Well, Carl, what I would say is that the potential risk is about a 1 to 2 percent chance that there'd be a significant bleed. That's the greatest risk. The chance of benefit is marked. The vast majority of people will benefit.
MAY: Deep brain stimulation has been called a pacemaker for the brain. It regulates the neurons that are misfiring. It's used for everything from Parkinson's disease to major depression. Scientists still don't understand exactly why DBS works. But for some patients, it dramatically reduces symptoms. At first, scientists literally destroyed the part of the brain that was malfunctioning. Vitek says there's a reason doctors would be willing to try something so brutal.
VITEK: One word will answer that - desperation.
MAY: Carl kept desperation at bay for decades. He just worked around the dystonia. He taught sixth grade, got married, had kids. From the outside, his life looked normal. But around a year ago, desperation hit. Carl's type of dystonia is hereditary. And his 10-year-old son, Liam, was diagnosed with it. Liam's pain got so bad he started wearing an ankle brace to calm the spasms in his leg. He knows he could become unable to walk, and he fears the worst.
LIAM LUEPKER: I'm afraid it's not going to get cured and I have to live the rest of my life with this horrible disease.
MAY: Liam knows what's in store. He's watched his father struggle more each year until it finally got to the point where it's difficult to talk or even cut his own food.
LIAM: At first, I kind of felt embarrassed when he came with me to places. But then when I grew a little more mature, I grew more sympathy for him.
MAY: Liam has always been a sensitive kid, but dystonia has made him even more empathetic.
LIAM: I can feel sympathy for people who don't get sympathy because their disorder is unnoticed by the world, and not many people know or care.
MAY: Liam is already beginning to lose the things he loves to do, like skateboard. He recently got so frustrated he smashed it on the sidewalk. Carl quit his job and went on disability so he could care for Liam full time.
LUEPKER: What can't I help you with?
LIAM: Pain.
MAY: And the pain is getting worse. Carl believes that Liam's best hope is deep brain stimulation. It may seem like an extreme solution, but Carl has tried the dystonia drugs. They made him paranoid and blurred his vision. He says you don't want to drug your kid.
LUEPKER: And then, OK, more and more and more just so he can walk and be in a stupor.
MAY: Carl's hoping if the procedure works for him that Liam will have the courage to do it himself. In January, Carl went into surgery. They drilled a hole in his skull and slowly eased the electrodes a few centimeters into the brain. They guide 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. Dr. Park is the surgeon who operated on Carl.
UNIDENTIFIED MAN: It's much like travelling through Europe. And as soon as you cross the border, the people start speaking different language. You know, it's almost like that. OK. And we know where we're going.
MAY: Carl is awake the whole time. There are no pain receptors in the brain, and they need Carl to be conscious. Liam was at school that day.
LIAM: I was so anxious at school just thinking every moment, every cut, every stitch. I could kind of feel it. And I threw up at school that day actually.
MAY: The surgery went well. Then they turned on the electrodes. Carl said it felt like putting his tongue on a battery.
LUEPKER: Felt like kind of electricity.
MAY: I visited him a few months later. He shows me the remote control that he uses to adjust the electricity in his brain.
LUEPKER: And I can even turn it off.
(SOUNDBITE OF BEEP)
LUEPKER: And you can kind of see my hands cramping up there.
MAY: When he turns it back on, I can see his hand relaxing. The surgery didn't significantly reduce his symptoms. He says he feels less pain through the day, but his ability to speak has only slightly improved. But he got what he hoped for. After the surgery, his son Liam decided to get DBS. I visited Liam in September. I hadn't seen him for about 10 months. And back then, he was in constant pain from muscle cramps in his foot and was wearing an ankle brace. Now he whizzed by me on a skateboard pushing with the same foot that had been in a brace.
You look great.
LIAM: Thanks.
MAY: How does it feel?
LIAM: It feels like I never had dystonia.
MAY: 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.
LIAM: I think that it's going to halt the progression, or at least that's what the doctors say. But if I'm feeling as good as I am now for the rest of my life, that would be pretty amazing.
MAY: When Carl was growing up, he just had to accept that the dystonia would rob him of the ability to do the things he loved. But Liam, he doesn't have to think that way. And Carl told me it's like getting his son back. Michael May, NPR News.
(SOUNDBITE OF VITAMIN STRING QUARTET'S "HOPPIPOLLA") Transcript provided by NPR, Copyright NPR.
