The Epilepsy Therapy Project (ETP) is pleased to share with you this article from the New York Times.
We are proud and deeply honored that Steve Wulchin is leading ETP’s SUDEP Task Force, and as you will see, Steve speaks candidly and passionately about the tragic loss of his 19 year old son, Eric, to SUDEP just last year. You will see quotes, too, from our ETP Co-Founder, Dr. Orrin Devinsky, who is working with Steve on the Task Force.
Steve shares “there’s no magic answer, but awareness.” That is a treatment ETP can accelerate by sharing this article with you. We are grateful for Steve’s courage and his leadership. Please join with us and spread the word by sharing this article with all those who may benefit.
With thanks on behalf of Steve, Orrin and the ETP team,
Chairman and Co-Founder
Yet that morning, Mr. Wulchin found Eric lying on the floor. CPR and paramedics were too late; Eric had died at about 2:30 a.m.
The cause of Eric’s death was ultimately listed as Sudep, for sudden unexplained death in epilepsy. The syndrome accounts for up to 18 percent of all deaths in people with epilepsy, by most estimates; those with poorly controlled seizures have an almost 1 in 10 chance of dying over the course of a decade.
Yet many patients and their families never hear about Sudep until someone dies. Mr. Wulchin said none of Eric’s four neurologists ever mentioned it to the family.
“The message we got back was, ‘There’s no reason why he can’t live a long and normal life,’ ” he said. “It never occurred to me that this was a possibility.”
Now, physicians, researchers, advocates and relatives like Mr. Wulchin, a technology executive, are trying to raise awareness about Sudep. One of their goals is to establish registries of deaths and autopsy results, building databases to support future research.
Sudep most often affects young adults, typically ages 20 to 40, with a history of the convulsive seizures once known as “grand mal.” Others at risk include those with difficult-to-control seizures, or seizures at night; people who take a large number of anti-epileptic medications or take them irregularly; African-Americans with epilepsy; and people with epilepsy whose I.Q. is under 70.
Many victims die in their sleep, and their bodies are often found face down. That prone position suggests that they may have had a neural, respiratory or cardiac crisis — or some combination — that left them momentarily unable, like SIDS babies, to rescue themselves from suffocating.
“After a seizure, the person is in a dramatically reduced state of awareness, and even their reflexes are reduced,” said Dr. Orrin Devinsky, director of the Comprehensive Epilepsy Center at New York University.
For most people, he went on, “once your airway’s obstructed, you roll over. For people with epilepsy, they don’t.”
Epilepsy, wrapped for centuries in secrecy and stigma, has gained wide attention in recent years. Not so with Sudep; even neurologists who specialize in epilepsy sometimes feel that mentioning it to patients who aren’t at high risk may impose too much of a burden.
“Whenever I speak to a group of colleagues about telling all their patients, it’s controversial,” said Dr. Elizabeth Donner, a neurologist at the Hospital for Sick Children in Toronto and co-founder of the advocacy group Sudep Aware. “People worry about having a negative impact on the quality of life of people with epilepsy if we tell them about this.”
Mr. Wulchin and other advocates say this attitude needs to change, even in the absence of a concrete way to predict or prevent a sudden death.
“People go off and have babies knowing very well that SIDS could strike,” he said. “People have surgery and they get the standard warning that there could be adverse reactions to the anesthesia to the point of a fatality. We deal with these kinds of ambiguities all the time.”
Dr. Donner agrees. “People with epilepsy have the right to know that Sudep exists, and they have the right to be responsibly counseled about how to reduce the risk,” she said. “And actually, that doesn’t have to be a painful conversation.”
Dr. Devinsky, at N.Y.U., says he often directs at-risk patients to Britain, which has been at the forefront of Sudep awareness. There, devices like mattress alarms and structured pillows are sold to protect against death in sleep.
But just as research into epilepsy has been hindered by stigma, experts and advocates say the silence about Sudep is making it difficult to explore causes and treatments.
“I think this needs to be part of our conversation,” said Gardiner Lapham of Washington, D.C., a board member of the advocacy group Citizens United for Research in Epilepsy, whose son, Henry, died in 2008, at age 4. “The more people talk about it, the more people are going to be interested in getting to the causes of why this is occurring, and ultimately identifying ways to prevent it.”
Last year, researchers at Baylor Medical College in Houston, led by Dr. Jeffrey Noebels, discovered that a genetic mutation linked to a type of irregular heart rhythm called Long QT syndrome could also lead to seizures — suggesting that Sudep may result from electrical disruptions occurring in the brain and heart together. And this spring, the team isolated a mutation on a different gene that may cause seizure activity in the brain to direct extra impulses through the vagus nerve to the heart, making it slow and, in some cases, stop beating.
“We are hopeful the findings spur epileptologists to urge patients with epilepsy to obtain an electrocardiogram as part of their full evaluation,” Dr. Noebels said. “If it is abnormal, we expect more genetic information will be obtained, and that we can steadily build a database that tells us how important the incidence of mutations in these two genes really is.”
Steve Wulchin says he has had heart arrhythmias, and he wonders if that could have been connected to Eric’s condition.
“Had I known a year ago what I know now, I would’ve said, ‘We’re going to the cardiologist, we’re going to get you an EKG, an echocardiogram, potentially genetic testing; we’re going to get to the bottom of this,’” he said.
But neurologists say the Baylor findings are far from definitive. “I’m highly respectful of his work,” Dr. Donner said of Dr. Noebels. “I don’t want to downplay it at all. But you’re not going to suddenly go back and find samples of all these people, and all of them will have problems with this channel in the heart and the brain.
“I know sometimes it’s played up as ‘Gene for Sudep Discovered,’ ” she went on. “But Sudep is going to be multifactorial — no question.”
The lack of awareness about Sudep extends to forensic science. “I actually instructed the coroner how to classify Eric’s death, which is kind of mind-boggling when you think about it,” Mr. Wulchin said. “When I explained it, he said, ‘Well, that’s interesting; we’ve had five or six similar cases in Boulder County in the last year.’ So it leads me to believe that it’s vastly underreported.”
Dr. Donner, who is building the first registry of pediatric Sudep deaths in Canada, agrees. “I think that underreporting of Sudep cases, or underrecognition, is very, very high,” she said, adding, “I want open communications so that we can learn more.”
And Mr. Wulchin says families like his need to be more aggressive in raising overall awareness of the syndrome.
“You have to be your own best advocate, and I think the patients and the parents and the advocacy groups really have to start forcing the issue,” he said. “There’s no magic answer but awareness. Nothing’s going to happen without that.”
A version of this article appeared in print on July 27, 2010, on page D5 of the New York edition.
Read The New York Times article online: http://www.nytimes.com/2010/07/27/health/27epil.html?_r=2&src=twr