Steve Wulchin’s Testimony to the Institute of Medicine Workshop on Public Health Dimensions of the Epilepsies (28 June 20110, Washington DC):

At 5am, on March 28, 2006, my wife and I were awakened to the sound of a loud crash.  We ran toward the sound, into our 15 year old son’s room to find him on the floor, wedged between his bed and the nightstand, his lips blue and teeth clenched.  He was having a seizure.  We called the ambulance and went to the ER.  After a couple of hours he was ready to go home, with many more questions than answers.

This was new to us, we had no idea what we were in for.  In the visits to the doctor that followed we were told it might be a one-time event.  His second seizure occurred 3 weeks later, then another one 3 days after that.  Clearly this was not a one-time event.

We plunged into this, taking him to different doctors, questioning, challenging, doing our own research.  We took him to the Mayo Clinic for a battery of tests.  We learned that there are 4 underlying causes of seizures:

1)    Drug and alcohol abuse

2)    Tumors

3)    Trauma

4)    I don’t know

Eric fell into the fourth category.

We were told that Eric could lead a long and normal life with Epilepsy, that there were only 2 conditions to be concerned about:

1.    Having a seizure that would lead to a dangerous situation (driving, swimming, rock climbing) 

2.    Status epilepticus

We learned about the harsh realities of Epilepsy – there’s no test to show that you have it, and no test to show that you’re cured.  You take meds and hope the seizures go away.  We learned to live with the very discomforting reality that being cured meant an absence of seizures. And that at any moment another seizure could come along and reset the clock.  Needless to say, none of this was in any way, shape, or form satisfying.  Instead of having a test come back negative, our only hope was for our son to go months without having a seizure, and just hope that we’re not getting lulled into a false sense of security.

The possibility of SUDEP was never brought up.

Over time the doctors found the right combination of meds that seemed to work with Eric.  After about a year and a half the seizures appeared to be under control, for the most part they were infrequent and mild.  For Eric, they always happened when he was sleeping, and they always woke us up.  It was a return to the days of having an infant in the house.  You go to sleep knowing that there’s another dimension, a quick-wake mode in play that will protect you and your loved ones where you can jump to action at the first sign of trouble.  No different than if a burglar breaks the front door down.

On July 9, 2009, I awoke next to my wife, it was her birthday.  I went to go make coffee, stopping at Eric’s room to check on him as I did every morning.  His door was half closed, as he got older he wanted more privacy.  I opened the door and walked into the room.  Eric was lying half on his bed, half on the floor.  The dog was next to him.  It reminded me of the video clips from America’s Funniest Videos.  As I walked in the dog looked up at me and smiled (yes, he smiled.  This is one of his traits).  I walked over to Eric to get him to get back into bed and noticed something was wrong.  I screamed my wife’s name, nothing else, just her name.  But that’s all it took, she called 911 and I started CPR.

Eric had died in the middle of the night, on his mother’s and brother’s birthday.  Our 6’ 5”, big strapping seemingly healthy son, who hadn’t had a seizure in 6 months, who said good night to us at midnight, had died in his sleep just a few hours later.

In the ensuing days and weeks I tried to cope with the loss of my son, to be there for his brother and mother, to make some sense of it all.  I worked with the coroner to find the cause of death.  Toxicology reports came back with nothing out of the ordinary, meds were in the therapeutic range.  I read an article about Epilepsy when it hit me: Eric died from SUDEP.  This information had been available since I had become involved in Epilepsy but it had never registered with me.  I had done a lot of research and seen it in a number of places, but no doctor had ever brought it up.  So, even though I consider myself to be well educated and active in these issues, without hearing it from a credible source, a trusted source of authority like a doctor, it had no impact.

During this time I kept in touch with the coroner to get regular updates on his progress.  Early on (way before the funeral) we were asked if they could take a tissue sample from Eric.  In this case a tissue sample is a euphemism for removing my son’s brain.  We agreed, anything we could do to try to understand, to hopefully one day make enough progress that other families won’t have to go through this.   And then, 6 months later I found out that the genetic tests required samples to be frozen, Eric’s were in formalin.  Clearly a consistent and standard practice is lacking.

We worked through possible causes of death, and as the potential causes got eliminated one by one I told the coroner that unless he could prove otherwise, I wanted Eric’s death to be classified as SUDEP.  As a father, I had to tell the coroner what my son’s cause of death was.  His response made it very clear that he was not familiar with SUDEP, didn’t know what the term meant.  When I explained what it was he said “oh, we’ve had 3 or 4 similar cases in Boulder County in the past year”.  The clear implication is that SUDEP is vastly underreported.

I expressed my frustration about the lack of visibility of SUDEP to my primary physician.  He is an ER doctor and was also involved in Eric’s treatment, and prides himself on staying abreast of all of the latest developments in medicine.  He replied that he didn’t know about SUDEP until I had brought it to his attention.  In an attempt to standardize the definition of SUDEP, the US Food and Drug Administration (FDA) and Burroughs-Wellcome developed criteria for SUDEP.  These criteria are now used in most SUDEP studies.  However, this standardization was developed in 1993.  (http://emedicine.medscape.com/article/1187111-overview)  So, here it is 18 years later, why are so many people, including doctors, still unaware of SUDEP?

I found it interesting and frustrating to compare SUDEP with SIDS – they have similar characteristics, strike seemingly healthy people, leave no evidence after the fact, and there is nothing that can be done to prevent them.  Yet SIDS is widely known among the general population, while 90% of doctors, including many neurologists, have never heard of SUDEP.  And as shown below, SUDEP deaths are at least comparable, if not significantly higher.

SIDS is widely understood by the population as a result of the Back-To-Sleep campaign launched in 1994.  The essence of the campaign is simple, it’s safer for infants to sleep on their backs.  According to NIH, since the campaign started, the percentage of infants placed on their backs to sleep has increased dramatically, and the overall SIDS rates have declined by more than 50 percent.  According to the CDC approximately 2,250 infants die annually from SIDS in the US.

So if we can warn all parents about SIDS – a condition that we don’t understand, don’t know who is at risk, don’t know what causes it, why can’t we do this with SUDEP?  By comparison, it is estimated that 3 million people in the US have been diagnosed with Epilepsy.  Of this number, an estimated 25,000 – 50,000 will die annually of seizures and related causes.  It is estimated that SUDEP accounts for 8-17% of these deaths, resulting in 2,000 to 8,500 annual deaths from SUDEP.  (http://emedicine.medscape.com /article/1187111-overview)  Given the lack of awareness surrounding SUDEP, these estimates are undoubtedly low.

If I had been made aware of SUDEP could I have saved Eric’s life?  Possibly, possibly not.  But without being told I wasn’t even given the chance.  It all starts with awareness.

My family is committed to generating awareness for SUDEP.  Last month, in commemoration of Eric’s 21^st birthday, an Awareness campaign was announced through SUDEP Aware.  The current policy of “Don’t Ask, Don’t Tell” that the medical community appears to be employing is unacceptable.  People have a right to know that Epilepsy is potentially much more dangerous than they have been led to believe.  They need to understand that there are risks with Epilepsy, risks that they cannot control, but risks that they might be able to influence, even if it’s over time. 

Epilepsy in general and SUDEP in particular need a multi-pronged approach – there is no simple solution.  Massive amounts of government spending won’t provide a solution.  Big Pharma programs won’t provide the solution.  The solution, in my opinion, is likely to come from a combination of government sponsored programs, big pharma, entrepreneurs in search of seed capital, and passionate individuals dedicated to a cause.  It’s possibly going to be the tinkerer working in his garage to find a solution because his daughter or son has Epilepsy, and now he knows how dangerous it is, and he’s going to figure it out – that’s who’s going to find a cure.  Or it’s the parent who has lost a child to SUDEP that is going to make a difference by setting up a registry or an awareness campaign that will make a difference.  But all of this points to the need for more awareness.

SUDEP affects many many more people and families than we know.  It’s time to get our best and brightest focused on this so we can solve the problem.  But until they know not only what the problem is, but more importantly that there is a problem, they don’t stand a chance.  And people with Epilepsy will continue to die needlessly.

What we need:

-          Open and honest discussion about SUDEP from credible sources – Neurologists and Epileptologists

-          Education about SUDEP to all members of the medical community, Neurologists, GPs, Cardiologists, and Coroners

-          Ways to recognize potential SUDEP cases by Coroners and standardized coding for deaths from SUDEP

-          EKGs as a standard course of action for all Epilepsy patients.  They are becoming required for all athletes in a number of places – the European Society of Cardiology and the International Olympic Committee recommends EKG screening for all competitive athletes (NYT March 2, 2010).  This for sudden cardiac death, which kills 90 people in the US annually.  90 people a year, compared to up to 8,500 deaths from SUDEP.  Dr. Jeff Noebels at the Baylor College of Medicine, whose laboratory recently discovered the first gene that links epilepsy, cardiac arrhythmias, and sudden death, is recommending a screening EKG for all people with Epilepsy. Drugs known as beta blockers can be given to prevent these arrhythmias and sudden death. This test should be added to the standard medical workup of new onset seizures, to ensure that a silent abnormality in the cardiac rhythm is not tragically overlooked.*

-          The need for more basic scientific and clinical research into the causes and prevention of SUDEP

-          Genetic testing to explore links with conditions such as Long QT Syndrome

-          A national registry of Epilepsy patients and SUDEP victims

-          Standard practices for handling of tissue samples in the event of death

It is a long list, but we don’t need to be overwhelmed by its size or magnitude.  We can start with the simple concept of making people aware.  Epilepsy patients and their families have the need to know and deserve nothing less.

*This is of particular interest to me personally.  I was hospitalized briefly in 2008 with atrial fibrillation, so I can’t help but think of the possibility of a genetic link.