Autism Disorder AND Epilepsy (But NO SUDEP!!!) at 6:05 AM

I was awake at 5:30 this morning, had some breakfast, and was enjoying a mug (not a cup, a mug) of coffee when I noticed that the time was 6:05 am.  Startled I jumped up to see if everything was OK with my son Conor.  Conor suffers from severe autism disorder and epileptic seizures, including half a dozen grand mal or tonic clonic seizures, since last Christmas. One feature of Conor's autism disorder is that he gets up at precisely 6:01 a.m. every morning.  He often wakes up before 6:01 but stays in bed until that time and then gets up.  Until this morning I can not recall the last time he might have slept in past 6:01.  I was worried when he had not come out of his room by 6:05. 

I worried because of the epileptic seizures from which he suffers. (My fear was brief; gone as soon as I ran into his room and saw him stirring)  Some who suffer from such seizures have been known to die in their sleep with no clear explanation, a condition called SUDEP, sudden unexpected death in epilepsy.  A special program  called The Center for SUDEP Research which will be a "Center Without Walls for Collaborative Research in the Epilepsies" has been  established in the US by the National Institute for Neurological Disorders and Stroke (NINDS)  to tackle SUDEP.

 A NINDS press release provides an overview of SUDEP and a brief description of the plan of action:

"While the causes of SUDEP are currently unclear, mounting evidence points to seizures that induce structural defects and/or brain circuit malfunction in areas that control cardiovascular and/or respiratory functions. Using a multidisciplinary approach, scientists and clinicians participating in the new center without walls hope to understand what causes SUDEP and how can it be prevented.

One team of researchers will identify genes, predisposition to neurochemical imbalances, and structural irregularities in the brain that may increase the risk of cardiac arrhythmias and respiratory disruptions in epilepsy. In parallel, another team will develop a sophisticated repository for storing and sharing genetic, tissue and clinical data samples collected from 400 study participants with epilepsy per year for three years at each of 10 clinical sites across the country. This team will also analyze the collected samples to identify risk factors for SUDEP."

Some may question why I would have been apprehensive about the possibility of SUDEP when my son did not come out of his room at 6:01 am.  The primary reason is that his adherence to the 6:01 routine was until this morning  almost without exception, a feature of his severe autism disorder.  The second reason is that a good friend who was, and is, very active in autism advocacy in New Brunswick lost her adult son to SUDEP. In that case her son appeared to be sleeping in past his usual time just as my son did this morning ordinarily a blessing for both parent and son. Her son, like mine, suffered from both autism and seizures, and was not sleeping in, tragically he had passed in his sleep.

As the parent of a son with severe autism who suffers from epileptic seizures I can not take any break from routine for granted, even very thankfully as it turned out this morning, one resulting from a few minutes of extra sleep. 

SUDEP The Global Conversation Combating The Myth That Seizures Do Not Kill

Many with autism disorders also suffer from epileptic seizures and should be aware of the risk of SUDEP, Sudden Unexpected Death in Epilepsy.  The following is a News Release about SUDEP the global conversation a joint effort of several epilepsy and SUDEP awareness ogranizations in the US, Canada and Australia:


Families, researchers, clinicians and organisations unite to promote a global conversation on sudden death in epilepsy

A global collaboration of charities, researchers and families has created a unique online knowledge resource on sudden deaths in epilepsy. This new, web-based ’Global Conversation’ combats the myth that seizures do not kill.

Sudden Unexpected Death in Epilepsy (SUDEP) is when a person who has epilepsy dies suddenly and unexpectedly, with no other cause of death established. It accounts for the majority of deaths in people with chronic epilepsy. Deaths are also caused by accidents, status epilepticus, and suicide. 

Jane Hanna, one of the editors, who has campaigned for awareness and action on epilepsy deaths since her partner died suddenly in his sleep, aged 27, in 1990 said: “The mortality burden of SUDEP alone is high, second only to stroke amongst all neurological disorders because so many of the sudden deaths are in young people. Most people with epilepsy will live a full and normal life but we need to acknowledge the risks, especially with convulsive and night-time seizures. There are simple measures that can be taken that are known to reduce risk that people may want to know and try.“

The new ‘Global Conversation’ website www.sudepglobalconversation.com combines the latest research by international experts with the powerful accounts of bereaved families making it easily accessible to anyone in the world.

The ‘Global Conversation’ will also be promoted at an exhibition at the American Epilepsy Society annual meeting in Seattle, between 6-8 December, 2014 which will be attended by about 4000 delegates. 

FACTS

For over 100 years, a myth that seizures were not fatal hindered research and action to prevent epilepsy deaths worldwide. The myth was first broken in 1996, when the hard and long journeys of some tenacious families collided with those of pioneering researchers and clinicians from all over the world.

The success of the ‘Global Conversation’ is attributed to a powerful three-way collaboration between SUDEP Action, Epilepsy Australia and Canada’s SUDEP Aware which, together, reach out to research teams from many countries and over 60 experts from around the world, to gather and disseminate the latest information worldwide. It follows SUDEP Action’s (the working name  for Epilepsy Bereaved) campaign during the 1990s, which sparked a partnership between the UK charity and Epilepsy Australia in 2005.

The new, web-based resource follows the success of two books that were produced by the partnership with more than 16,000 hard copies distributed to epilepsy communities around the world at international conferences held in Paris, Rome, Chicago, Montreal, London, Glasgow, Singapore and India, between 2005 and 2014.

The original books online have received more than 300,000 hits. 

Sudden Unexpected Death in Epilepsy (SUDEP) is the term used when someone with epilepsy dies suddenly, often after a seizure that involves a loss of consciousness.

Dr Rosey Panelli, International Research Officer at SUDEP Action, who alongside Tamzin Jeffs, from SUDEP Aware, is promoting the resource at the Annual Conference of the American Epilepsy Society said, “By working together we can push forward the global conversation on SUDEP, which is vital to research and action on SUDEP wherever we are in the world.”

In 2013, SUDEP Action launched a Call for Openness on SUDEP, which is supported by the partnership and by the International League Against Epilepsy (ILAE); the International Bureau for Epilepsy (IBE) and 13 other epilepsy organisations around the world. 

Visit https://www.sudep.org/call-openness-campaign.

Click here to follow the SUDEP Global Conversation on Facebook

SUDEP Awareness Day and Autism Disorders

A much higher percentage of people with autism spectrum disorders suffer from epileptic seizures than among persons in the general population.   At the severe end of the autism "spectrum" it has been estimated that as many as 39% also suffer from seizures.   My severely autistic, intellectually challenged son Conor suffers from seizures including tonic clonic known as Gran(d)  Mal seizures and almost lost his life last year to an adverse reaction to his seizure med at that time.  Among persons with epilepsy there are many risks surrounding loss of consciousness and breathing during seizures.  Approximately 1% off persons with epilepsy die as a result of SUDEP, Sudden Unexpected Death in Epilepsy.  In the UK the SUDEP Action organization has started a SUDEP Awareness Day, October 23.  It has received the support of  a UK MP Ed Vaizey.

The Epilepsy Foundation has a page on SUDEP which sets some important information:

What is SUDEP?

SUDEP is the sudden, unexpected death of someone with epilepsy, who was otherwise healthy. No other cause of death is found when an autopsy is done. Each year, more than 1 out of 1,000 people with epilepsy die from SUDEP. If seizures are uncontrolled the risk of SUDEP increases to more than 1 out of 150. These sudden deaths are rare in children, but are the leading cause of death in young adults with uncontrolled seizures. 

What happens?

The person with epilepsy is often found dead in bed and doesn't appear to have had a convulsive seizure. About a third of them do show evidence of a seizure close to the time of death. They are often found lying face down. No one is sure about the cause of death in SUDEP. Some researchers think that a seizure causes an irregular heart rhythm. More recent studies have suggested that the person may suffocate from impaired breathing, fluid in the lungs, and being face down on the bedding.

Can SUDEP be prevented?

Until further answers are available, the best way to prevent SUDEP is to lower your risk by controlling seizures.  Paying attention to managing your seizure medications as best as possible, taking them regularly, and preventing seizures emergencies is all part of this.

October is autism awareness month in Canada.  With the very large percentage of persons with autism disorders who also suffer from epilepsy it would be helpful if autism awareness organizations provided information about epilepsy and SUDEP.

Autism and Conor's Grand Mal Seizure: What Lies Ahead?

I know very little about seizures except that they are associated generally with epilepsy, that they are common in people with autism disorders and that they can be absolutely terrifying to a parent, even one whose personal conceits mislead him into thinking he is immune to fear. When I heard strange noises from my younger, severely autistic, and intellectually challenged son Conor and found him convulsing violently on our living room floor  I thought for an instant that we might lose him. At this time I know very little about seizures.  I know very little except how dangerous  seizures can be.

I can say that I had suspected seizure activity in Conor on previous occasions and reported them to his pediatrician over a year ago. The previous incidents involved his eyes rolling back in his head, his eye lids closing with an unusually forceful appearance, or his face grimacing and head tilting up and in another direction. But there was no falling or convulsing and no further examinations were conducted.  The Grand Mal seizure he suffered two weeks ago was on a different scale and prompted a call to 911 and the terrific emergency response team and ambulance that took Conor and I to the emergency ward of our local hospital, the DECH.  Thanks to the emergency response team the hospital staff were waiting and prepared with readings having been called in en route. An EEG is now scheduled and I will try to help Conor deal with the stresses of that procedure sufficiently to enable adequate readings to be taken.  Beyond these few facts I know very little about seizures or epilepsy which apparently is the most likely explanation at this time although no diagnosis is confirmed prior to further testing. All I know at this time is that seizures can be very dangerous, even deadly, and my responsibilities to my son now require that I learn much more, as a parent always must, about the very serious challenges they present to my son.

I have much reading to do.  I do have some very good friends in New Brunswick's autism advocacy community who have children with autism who have suffered seizures and  have given me some helpful information. I have for some time admired the courage of Kim Oakley who has posted YouTube videos of her son who suffers from autism and epilepsy and authors Autism, Epilepsy and Self-Injurious Behavior a blog  featured on the side bar of this site.  My admiration for her and her family and the challenges they have faced is increased by Conor's recent Grand Mal seizure.

Since my son's seizure I have found in the New York Times on line an informative and awareness raising article Unmasking Silent Killer in Epilepsy by Aliyah Baruchin. The article reports very directly, with no sugar coating, about Sudep, sudden unexplained death in epilepsy. It includes the story of Steve Wulchin who found his 19 year old son Eric lying on the floor after suffering from an epileptic seizure. He had died at about 2:30 in the morning. We were more fortunate, Conor's seizure occurred around 11 am in the morning and I heard him making unusual noises before finding him in violent convulsion on our living room floor. Had it happened at 2:30 am or some other time when no one was awake the ending could have been very different. The Baruchin article goes on to report: 

"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. ”

Since I commented about Conor's seizure on this blog I have also received a  news release The Damaging Impact Of Seizures On Individuals With Autism:

Newark Valley, NY, November 30, 2012 – Many of us know someone whose family is dealing with autism; once considered rare, now 1 in 88 children in this country are diagnosed with an Autism Spectrum Disorder (ASD). 

Silently Seizing: Common, Unrecognized and Frequently Missed Seizures and Their Potentially Damaging Impact on Individuals With Autism Spectrum Disorders (AAPC Publishing) by Caren Haines, RN, and valuable input by Nancy Minshew, MD, deals with the overwhelming challenge for those living with silent seizures. Many are confronted by anger and falsely accused of disorderly conduct, indecent exposure and drug abuse; while some are even unfairly arrested because the bizarre actions exhibited during a seizure have led to frequent misdiagnosis, medical mismanagement and, in the worst case, commitment to a mental institution.  

Because they are difficult to diagnose, or due to a lack of awareness and understanding, as many as 30% of all children and young adults with ASD may have undiagnosed seizure disorders. Silently Seizing is a breakthrough book that explores what most doctors won't tell you – that often the symptoms of autism are caused by seizures, undetectable with standard diagnostic tools. 

At age 2, the author’s son was diagnosed with autism. By the time he was 12, his diagnosis didn't account for his uncontrollable aggression, the acrid smells that lingered in his mind and the odd voices that screamed at him from inside his head. By the time he was 18, his out-of-control behavior mirrored a mood disorder with psychotic features. Silently Seizing begins with a close-up look at this family's journey and examines a disorder that cannot always be identified in a clinical setting. 

 As a registered nurse, Caren Haines relied on her training to help her decipher her now 24-year-old autistic son’s perplexing behaviors. Based on knowledge gained from years of intensive research and information from top researchers in the field of autism, she is helping families become free from the debilitating symptoms of silent seizures and psychosis. 

Haines’ says, “Intersecting at two medical subspecialties, neurology and psychiatry, the child who has autism and partial seizures is at a serious disadvantage. By inadvertently allowing children's brains to “silently seize,” we are robbing them of their ability to function normally. Untreated, these seizures can predispose children to develop behavioral disturbances, such as self-injury, aggression and psychosis, which are seen in many cases of autism. If they are treated early with anti-seizure medications, many children show amazing gains in expressive language and comprehension. More importantly, many children lose their diagnosis of autism.” 

Backed by up-to-the-minute research, Silently Seizing: Common, Unrecognized and Frequently Missed Seizures and Their Potentially Damaging Impact on Individuals With Autism Spectrum Disorders is a must-read book that includes sections describing autism, the seizure-autism connection, tips for diagnosing and treating seizures, as well as how to better understand children's behavior. It acts as a virtual guide to help parents navigate through this complex and mystifying disease. For more information, please visit: www.bit.ly/Rb2WBW."

I received the above news release via email with out receiving a copy of the book which I have not read. I do intend to acquire a copy of the book. Not for comment on this blog at a later date, although that may happen, but as just one element in an effort to understand a dangerous reality in my son's life.