A Patient Summary of the 2004 Narcolepsy Network Patient Conference

By Tamara Rae Begel - November 2, 2004

Introduction

The Narcolepsy Network is a non-profit organization comprised of people with narcolepsy dedicated to caring about others with narcolepsy and associated sleep disorders, e.g., idiopathic hypersomnia, through communication, advocacy, research, and education. ¹

Their 19 th annual conference, "Keeping Your Finger on the Pulse of Narcolepsy," was held in Seattle , Washington at the Marriott Sea-Tac Hotel, October 22-23. About 200 people were in attendance. The schedule was packed with prominent researchers speaking about current research, new drugs, and future research.

As a regular poster on the Talk About Sleep (TAS) message boards and a first time attendee of the conference, this retrospective is intended to provide a summary regarding the status of research on narcolepsy, report on a renewed movement of young adults with narcolepsy, and provide insight into the experiences of this first-time attendee of the conference.

Conference Presentations

The Narcolepsy Network did a great job of lining up talks by leading researchers in the field on a wide variety of subjects. Due to space, time, and wakefulness constraints, I cannot summarize them all here but will give a brief overview. Dr. Emmanual Mignot presented an overview of the past, present and future of Narcolepsy research. Dr. Aatif M. Husain presented his research which specifically focused on the effects of the Atkins diet upon the symptoms of narcolepsy. ²The chief medical officer of Orphan Medical, Mr. William Houghton presented the current research on Xyrem and its effectiveness in treating EDS as well as cataplexy. ³Two different talks were given about narcolepsy in conjunction with other sleep disorders: Dr. Anstella Robinson ⁴ presented on narcolepsy and sleep apnea and Dr. Sarah Stolz ⁵ presented on narcolepsy and REM behavior disorders/periodic limb movement disorder. Dr. James Minard presented on Zen Dow Wake Science and Dr. Lois Krahn ⁶ presented on a clinical perspective of cataplexy based on research done through the Mayo Clinic. Dr. Will Longstreth presented the on-going epidemiological study of narcolepsy in King County , WA . ⁷Dr. Wallace W. Tourtelotte presented a talk on the operation of the National Narcolepsy Brain Bank ⁸ and Mali Einen presented information on Stanford's Brain Bank. ⁹Tracy Nasca, Senior Vice President of Talk About Sleep, discussed the Advocates for Sleep program. ¹⁰Additionally Sue Carella and Niss Ryan, both board members of the Narcolepsy Network, ¹¹ provided a workshop for Support Group Leaders & Narcolepsy Awareness Educators.

Dr. Emmanuel Mignot ¹² "New Trends in Research" 10/23/2004

The first speaker was Dr. Mignot, one of the premier researchers in the field of narcolepsy ¹³ and Director of the Center for Narcolepsy Research at Stanford University . Dr. Mignot has attended and spoken at most, if not all the annual conferences held by the Narcolepsy Network. In his talk, Doctor Mignot provided an overview of the past, present, and future of narcolepsy research.

Narcolepsy with Cataplexy and Incidence

Human narcolepsy with cataplexy is characterized by excessive daytime sleepiness, cataplexy, sleep paralysis, hypnogogic hallucinations, and disrupted nocturnal sleep. Animal studies have been helpful in the advancement of narcolepsy research. The mutation in the gene structure associated with cataplexy was first discovered in dogs. Predisposition for this disorder can be checked by testing blood for the HLA DQB1 *0602 marker, however, an environmental trigger is needed for narcolepsy with cataplexy to manifest. (The need for an environmental trigger was substantiated through studies of identical twins where a significant majority of identical twins did not have both twins symptomatic for Narcolepsy). Additionally, current research suggests that there is a 1 to 2% chance that first-degree relatives will be affected by narcolepsy with cataplexy. During the question and answer section, Dr. Mignot said that cataplexy can develop at any point in life, but that individuals without the HLA marker for narcolepsy have little chance to ever develop cataplexy.

The Auto-immune Question

Research has shown that the cause of human narcolepsy/cataplexy is due to the destruction of hypocretin producing cells in the brain. A leading hypothesis about what causes these cells to be destroyed is an auto-immune process that targets and kills the hypocretin producing cells in the hypothalamus. To date, researcher have not been able to find any firm evidence of actual auto-immune related abnormalities, e.g., evidence of anti-hypocretin antibodies or immune cell reactivity against hypocretin. However, simultaneous monitoring of the expression of thousands of genes has identified a number of areas that may be different. Additionally, the hunt for evidence of auto-immune abnormalities is one reason that researchers in narcolepsy are interested in post-mortem brain donations. It is their hope that evidence can be obtained from those tissues. During the question and answer session, Dr. Mignot, agreed that auto-immune disorders did seem to cluster together. (this is not really accurate lupus and multiple sclerosis are also auto-immune diseases but are not in any greater # in people with N)

Treatments or Cures on the Horizon

Researchers have found evidence that hypocretin-producing cells die in the brains of mice genetically engineered to have narcolepsy. When hypocretin was injected directly into their brains, the symptoms of narcolepsy and cataplexy were dramatically decreased. This, and other, studies have suggested that the hypocretin receptors are still active after long periods of hypocretin deficiency, and that replacement hypocretin may be an effective treatment for narcolepsy with cataplexy. Unfortunately, scientists have yet to break the blood-brain barrier and still need to find a way to effectively put hypocretin into the human brain.

These advances in hypocretin replacement may not only benefit those with narcolepsy and cataplexy. Hypocretin in humans is measured from a sample of cerebral spinal fluid. If one experiences cataplexy and has a cerebral spinal fluid test completely lacking in hypocretin, then this yields a positive diagnosis of narcolepsy with cataplexy and a MSLT is not needed. The benefit is that the individual does not have to withdraw from antidepressants or other medications to obtain a clean diagnosis. Unfortunately, this test only provides a definitive diagnosis if hypocretin is very low or completely lacking. If hypocretin is present, an individual may have narcolepsy or idiopathic hypersomnia and further testing is necessary for a definitive diagnosis. Additionally, some individuals with narcolepsy without cataplexy may be successfully treated with hypocretin replacement therapy because their symptoms may be due to a lack of hypocretin in the hypothalamus, even though they may exhibit normal levels in their cerebral spinal fluid.

One of the histamine centers in the brain has a direct link downstream of the location of hypocretin in the hypothalamus. Hypocretin directly stimulates histamine production, and the lack of hypocretin creates a significant decrease in histamine levels. A working hypothesis is that hypersomnia is caused by problems with histamine in the brain while narcolepsy with cataplexy is caused by the complete lack of hypocretin, which incidentally leads to low histamine. Some studies support the fact that a significant set of individuals with idiopathic hypersomnia had less histamine than an average individual. Unfortunately, histamine levels in cerebral spinal fluid are difficult to measure even in normal individuals. Researchers are currently trying to perfect their measurement and testing techniques to use histamine levels as an indicator of hypersomnia, but more time is needed to perfect the technique. It is hoped that if the histamine hypothesis is confirmed, better drugs targeting the histamine problem can be developed helping people with narcolepsy with and with out cataplexy as well as idiopathic hypersomnia.

Additionally, there are new drugs on the horizon that may decrease symptoms of narcolepsy and cataplexy. Drugs for individuals with narcolepsy have finally made it on to the pharmaceutical companies radar. However, given the fraction of the population with narcolepsy, this research is not obtaining the government support that it deserves. People with narcolepsy must unite to educate their Congressmen, and persuade them to specifically add narcolepsy into the legislation that funds research. Additionally, stem cell research eventually may lead to researchers ability to transplant new hypocretin-producing cells in the brains of people whose cells have been destroyeed.

There have been four cases of children who had sudden onset excessive day time sleepiness and cataplexy, who, within one or two months of symptom onset, received IVIG treatments that severely decreased their symptoms. However, as Dr. Mignot pointed out, this test was not double-blind study, meaning they have not yet ruled out the placebo effect. There are side effects to the treatment, but the treated individuals had reduced symptoms and a reduction in the appearance of further symptoms.

Young Adults with Narcolepsy

A lesser known aspect of the conference was the spontaneous organization of 20 teenagers thru thirty year-olds into informal gatherings and a support group with some facilitation by the Narcolepsy Network Board members. There were several recurrent themes throughout these discussions: connection, information, education, coping techniques, and energy. We realized that we are a unique group of people facing unique circumstances. As a result of advances in medicine which made it possible to be diagnosed at younger ages, we have the benefit of modern medicine to give us a name, treatments, and coping mechanisms for our condition. However, we are faced with the unique challenges of experiencing strong drugs at young ages, discovering how having narcolepsy should impact our decisions and our future, and identifying and rejecting limitations imposed upon us by others due to a perceived assessment of our abilities. Additionally, we discussed how loss of physical control of our bodies and vivid dreaming that blurs the lines of reality have impacted us and made us different from our peers. While attending the main conference taught us some coping mechanisms, presented us with additional current research, and provided us with living proof that we can make it successfully through life with narcolepsy, we also realized the importance of banding together to educate and support each other through our unique circumstances.

These young adults with narcolepsy are a determined group of individuals who dedicated themselves to addressing the issues, blazing the path for other young adults, and standing up to be counted. Through the generous and innovative support of Talk About Sleep, we have a public forum to accomplish our mission. TAS will be training and instituting formal chats and providing special message boards for young adults with narcolepsy. The chat hosts will be young adult members of the 2004 Narcolepsy Network Conference. Additionally, TAS is exploring other outlets and venues to increase exposure and provide a place to meet, talk, and express themselves. All young adults with narcolepsy are invited to join the chats as well as these other efforts. Anyone who is interested in joining the effort can email Tracy Nasca at tnasca@talkaboutsleep.com

Additionally, several Narcolepsy Network board members have expressed an interested in improving the support for young adults. Board members have invited us to join the conference planning board and are brainstorming other supports for this group.

Putting a face on Narcolepsy

The individuals who attended the conference came from a variety of age, ethnic, educational, religious, work, home, and life experiences. While this is not a monumental claim, throughout the conference numerous comments were made by attendees about the diversity of individuals and appreciation for our intelligence, caring manner, and camaraderie. As barriers between groups of friends, age, and background were broken, new ties across barriers were made. Our work was not complete. We did not even make a dent in the dissemination of information and support to individuals with narcolepsy throughout the United States , let alone the world. More work needs to be done in the area of promoting awareness of narcolepsy in minority groups.

Accommodations

A special mention of appreciation needs to be made to the staff of the Marriot Sea-Tac. They took training provided by the conference organizers and accommodated us with a professionalism rarely seen. We were at home in the hotel and were able to let down our guards and enjoy the conference. Sleep attacks, cataplexy attacks, and moving at our own pace became the norm. Their actions were expertly executed, whether it was laughing at our jokes, having their computer system bogged down with tons of wake-up calls, catching a rolling cigarette out of the hand of someone who fell asleep, or obtaining a blanket, when requested, and abstaining from action so that I may rest after sleep unexpectedly consumed me, their actions were expertly executed without anything seeming out of the ordinary. They provided an environment which allowed each of us to freely experience the conference.

Conclusion

Our lives are limited by periodic loss of physical control of our bodies, exhaustion, memory loss, falling asleep, and hours of lost time. An opportunity to venture out at our own pace and schedule surrounded by people who understand our condition rarely occurs. Narcolepsy should not be used as an excuse not to attend the conference. In addition to the information received from the talks I was able to attend, life-long friendships were formed. Empowerment and understanding was achieved through talking to others with narcolepsy. It was well worth the experience.

On October 22nd, 2004 the world slowed down, as 200 individuals descended on Seattle to hear the latest research on Narcolepsy. Researchers poured in to inform us of their efforts on our behalf. People often left behind by a world moving at hyper speed, thought to be left out of the world's memory, realize their impact, accomplishments, and potential. For forty-eight hours time moved at our speed. In that time, we learned, shared, and slept according to our own individual schedules, and more importantly, we each realized that time was not leaving us behind. As we left this rejuvenating warp, we promised to remember how great an impact we have collectively made. Each one of us stepped back into a world aware that reality is permanently changed by those, who reshape it from the outside.