Hypersomnia Foundation

Beyond Sleepy in Boston: the 2017 Hypersomnia Foundation Regional Conference

SAVE the DATE

June 3 and 4, 2017

bpl

We have booked Rabb Hall at the Boston Library for another fabulous regional conference featuring dynamic speakers on Sunday afternoon, June 4, 2017. In this completely renovated, state-of-the-art, yet historic facility, our outstanding speakers will cover all of the latest research on idiopathic hypersomnia and related disorders. In addition, we have planned social events on Saturday afternoon, Saturday evening, and Sunday morning to connect with friends old and new.

Boston has so much to offer, and we would like your input regarding what you would like to do. Please respond to the survey linked here (https://www.surveymonkey.com/r/BeyondSleepy2017) to provide your feedback. Completing this very brief survey is not a commitment that you will attend the conference, but we would like to get an idea about numbers of people to anticipate, as well as to set aside an adequate room block and select your preferred social events.

Note that the costs quoted in the survey are estimates of actual costs, since pricing can change depending on the number of people who will book a hotel room and how many people will participate in the activities. Please complete this short survey by October 19, 2017. Registration will open on November 15th.

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Service Dogs – Part 2: Different Types and What They Do

Many people are surprised to learn there are more than a dozen different specializations for service dogs. There are diabetic alert dogs, severe allergy alert dogs, visual assistance dogs, hearing dogs for the deaf, wheelchair assistance dogs, psychiatric service dogs, brace/mobility support dogs, medical alert dogs, seizure assistance dogs, and dogs for autism, post-traumatic stress disorder (PTSD), and more.

According to the Americans with Disabilities Act (ADA, 1990), a dog is considered a “service dog” if it has been “individually trained to do work or perform tasks for the benefit of a person with a disability.” A disability is a “mental or physical condition which substantially limits a major life activity.” Examples include the following:

  • Caring for one’s self
  • Performing manual tasks
  • Walking
  • Seeing
  • Hearing
  • Speaking
  • Breathing
  • Learning
  • Working

Other disabilities may not be visible.

  • Deafness
  • Epilepsy
  • Psychiatric conditions
  • Diabetes

To be considered a service dog, the dog must be trained to perform tasks
directly related to the person’s disability. Some service dogs perform two or more functions for their disabled handler, such as a brace / mobility support dog and a seizure assistance dog. There isn’t a clear way to classify all types of service dogs, nor is classification particularly important under the ADA as long as the dog is a service dog. The dog’s type, function, title, or classification is usually left up to the dog’s handler. The following are some ways in which service dogs can assist their handlers.

Allergy Alert: The service dog can alert its handler to life-threatening allergens that may be in the area, especially tree nuts, gluten, or shellfish.

Autism Assistance: The service dog can help to calm or ground an individual who has autism via tactile or deep pressure stimulation. The dog may also assist in teaching life skills, maintaining boundaries, or finding a “runner.”

Mobility Support / Wheelchair: A brace/mobility support dog works to provide bracing or counterbalancing to a partner who has balance issues due to a disability. Many brace/mobility support dogs also retrieve, open/close doors, or do other tasks to assist in day-to-day life or in an emergency. Dogs may also assist their partner by retrieving dropped objects, opening doors, retrieving the phone, helping with transfers, or doing anything else their partner may need.

Diabetic alert: These dogs can alert their handler to dangerous or potentially deadly blood sugar highs and lows. Many dogs are trained to call 911 on a special K-9 Alert phone if their partner cannot be roused.

Hearing Assistance: Hearing assistance dogs can alert their deaf handler to environmental sounds, including, but not limited to, alarms, doorbells, knocking, phones, cars, or their name.

Medical Alert: These dogs are trained to alert their handler to dangerous physiologic changes. such as spikes or drops in blood pressure, hormone levels or some other parameter or to recognized an identifiable symptom.

Psychiatric Service: Psychiatric service dogs assist their handler with a psychiatric disability such as anxiety, depression or PTSD via specific trained tasks.

Seizure Response: These dogs respond to their handler’s seizures via trained tasks. The dog may retrieve medication, utilize deep pressure stimulation to end a seizure early, fetch a nearby person to help or call 911.

Visual Assistance: Also know as guide dogs, these animals help their visually impaired or blind handler to navigate the world.

untitledKimberly Brenowitz is the Master Trainer with Animals Deserve Better, Inc. and Paws for Life in Marietta, GA. She can be reached at adb@animalsdeservebetter.com.

The first part of this series is available at http://www.hypersomniafoundation.org/serviceanimals-pt1/

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Wing Chun and Hypersomnia

Earlier this year, I experienced a minor miracle. After a full day of traveling and running errands, I was completely drained. The next day was a big event, and anxiety was eating at me. Would I wake up in time, would I have enough energy to be sociable, or would sleep take the reins yet again? I was faced with the option to go to sleep right then and wake up even earlier than I had planned or to get some stuff out of the way before sleep and get up as late as possible for the full day ahead. I knew that in a couple of moments my body would take any choice out of the equation, but I was still sitting upright out of sheer stubbornness and determination.

I did not have the energy to do much more than stand at that moment, but I had so much to do before I could let myself succumb to sleep. Taking another step seemed out of the question, but I could move my arms, so I started an exercise that had become a part of my daily routine. My hands followed a series of movements that comprise the beginning stages of learning Wing Chun Kung Fu, affectionately called the form, and it was not draining me like every other movement seemed to do, so I kept going.

Halfway through, my eyes opened in shock. It felt like I was waking up—not some metaphor or random realization—but actually waking up. By the time I finished, I wing_chun_single_chi_gerkwas in shock because I found that I had energy that was so distant just five minutes earlier. And for the next hour, I was able to do everything I had to in preparation for the next day. When I was done, I, not my body, was the one to make the decision to go to sleep.

The implications of what I had just experienced had my mind racing. As long as I had enough energy to stand up and start the form, I could build the energy to do more. There are still times when standing is a big ask, but I was never able to wake myself up before.

In the past, whenever my doctors would suggest exercise to help combat my tiredness, I would be so puzzled. How could I possibly think of doing anything high energy when I barely have enough energy to walk down the steps to feed myself, when I have to budget every movement in order to get anything done. The mere idea of exercise just seemed like a waste of the little precious energy that I had. But at the same time, I missed the feeling of being active like I had been in the years before hypersomnia hit me.

This past February, I reached a point where I got fed up with not feeling in control of my body. Sleep has taken so many hours from my life, and I never got a say in the matter. More than that, it didn’t let me make the most of the short time that I was awake because it was always there to pull me back under if I didn’t fight. I yearned for something, anything, to make me feel like I was in control again. I had no clue what to try—anything with cardio was out of the question.

Then I found the perfect fit by accident, or fate if you believe in that kind of thing. The movie Ip Man popped up on my “watch it again” list on Netflix, and I had just enough energy to watch a movie with subtitles. With all that had been going through my head recently, I watched this martial arts flick in a whole new light. Where before I saw a great movie with amazing action scenes, I now looked more closely at the man who was being portrayed at the center of it all. Throughout the movie, Ip Man was very tranquil and thoughtful, even in the midst of the fighting scenes, which ran counter to my interpretation of martial arts. A thought crept into my head: if he can do this while he is calm, maybe I can learn it while I am tired.

The end credits rolled, and I wrote down the style of martial arts that Ip Man practiced and taught. Wing Chun. There had to be something about the style that fostered such a temperament, one that so matched mine (albeit out of necessity at times). I immediately began to look for places in my area that taught Wing Chun… after I watched more Ip Man movies. When I visited the Wing Chun school, my suspicions were confirmed. It is a discipline that in its nature could make me feel more in control of my body, and I would be able to learn and practice it with as much or as little intensity as my energy level permitted.

When I started, I had no idea that it would translate to fueling me with energy so directly and so powerfully. My experience just two months in is a testament to how much Wing Chun is going to affect my life. As long as I have the energy to stand up and start the form, I will have the energy to do what I need to do and what I want to do. It is as if I have been walking through life thirsty in my own personal drought, rationing my energy because I had so precious little, and suddenly I have found the tools to tap into a rich well I didn’t know was beneath my feet. All because of Wing Chun!

It is my selfish hope that reading this will help you find the tools to tap into the same well of energy that I have. But no matter what, I wish you wakefulness.

Olivia Robbins, Maplewood, New Jersey

Posted in: idiopathic hypersomna, Journey

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There’s A Doctor in the Hypersomnia House

A few weeks ago, we launched our latest Hypersomnia Foundation program – Ask the Doctor. We thank everyone who has sent questions and encourage you to send your questions to atd@hypersomniafoundation.org.

Some of the questions that we received made us think about the language that we use when talking about sleep disorders. I know what I mean when I use a word, and you know what that word means to you, but unless our words mean the same thing to both of us, unless we use a common language, we are not hearing clearly what the other person is saying. I might say I have hypersomnia and mean that I am sleepy, but to you it means that you sleep for a long time. Language in general and the language of sleep disorders not only has changed over the years, but also will continue to change. So, today, thanks to your questions, we will discuss a few of these terms and provide a little background on why there is so much confusion.

Question: What do we mean when we say hypersomnia?
Answer: Hypersomnia means literally too much sleep. The definition of what is “too much” sleep can be debated but has been defined at various times for medical purposes as more than 10 to 11 hours per day. In current medical use, the word hypersomnia is also used to mean simply excessive sleepiness, regardless of sleep time.

Question: What is the difference between hypersomnia and hypersomnolence?
Answer: The Hypersomnia Foundation uses the term hypersomnia to mean the condition of too much sleep. Likewise, the International Classification of Sleep Disorders, third edition, reserves the term hypersomnia to mean the specific syndrome of idiopathic hypersomnia and the term hypersomnolence for the more general condition of excessive sleepiness.

Question: What are the differences between the terms sleepiness and fatigue?
Answer: Doctors have struggled to define and measure what is meant by the word sleepiness, as compared with other commonly used words such as tired, fatigued, and lack of energy. In general, doctors define sleepiness as the experience of being more likely than most people to take naps during the day, sleep for long periods at night, or fall asleep at times that it is problematic to do so (for example, while driving, at work, or during a conversation). In contrast, fatigue is defined as a state of having low energy or having trouble remaining on the same task but not necessarily falling asleep or sleeping too much.

Despite this distinction, it has turned out to be very challenging to measure sleepiness and fatigue in clinical settings. Part of this challenge is reflected in the fact that individuals who have sleep disorders do not necessarily experience these as completely different states (that is, patients with hypersomnolence might experience both sleepiness and fatigue, as defined above). Further, they do not typically use words to describe their symptoms that fit with the above schema.

A classic research study of patients with sleep apnea (who were sleepy because they did not breathe properly at night) showed that patients were sleepy based on their ability to fall asleep quickly during a Multiple Sleep Latency Test (MSLT) but were more likely to say that they had fatigue, tiredness, or lack of energy than sleepiness.1 In this study, when asked to choose only one response to describe their symptom, about 40% of subjects chose lack of energy and only about 22% chose the term sleepiness.

Determining optimal measures of fatigue has not been any easier; researchers use no fewer than 8 different scales to measure fatigue. The Multidimensional Fatigue Inventory attempts to further divide fatigue into distinct parts such as general fatigue, physical fatigue, and mental fatigue, as well as reduced overall activity versus reduced motivation.

1. Chervin RD. Sleepiness, fatigue, tiredness, and lack of energy in obstructive sleep apnea. Chest 2000;118:372-9.

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Together We WILL Solve The Puzzle of Hypersomnia

Why did the Hypersomnia Foundation Board of Directors and volunteers work for more than two years with physicians and researchers to create a hypersomnia-specific registry?

Because, as David Meeker, President and CEO of Genzyme, has said, “Creating a registry of patients is the single most valuable action a rare disease community can take!”

And this community of which Mr. Meeker speaks is all of us—it’s the young people who have recently been diagnosed with hypersomnia and it’s people who have lived with these conditions for decades. It’s also those of us who support our loved ones who struggle with hypersomnia, helping them in any way that we can to dispel the fog that enshrouds them and crying with frustration that we can’t do more.

Why are registries so important?
Registries provide critical information, particularly about rare diseases. Uncovering that information makes a rare disease easier to study, increasing the probability that a treatment can be developed.

Typically, people with rare disorders are not geographically in the same place, making it difficult for scientists and medical professionals to gather information or samples from enough patients to study a rare disorder. However, a central registry helps to overcome that geography hurdle

Why would I take the time and use my limited energy to enroll in the registry and complete the questionnaires?

  • Your participation today will provide a brighter future for tomorrow. And don’t forget, it will help to fund research through the Hypersomnia Foundation Board of Director’s $50 contribution for every completed questionnaire. Your participation will also provide concrete help to researchers looking for answers.
  • The information about the central disorders of hypersomnolence will be housed in one location, accessible to any researcher anywhere in the world whose project is valid and approved by the Sanford Institutional Review Board.
  • One of the goals of a registry is to generate a hypothesis (a scientifically based idea) about which treatments might be effective. These hypotheses can assist the pharmaceutical industry (drug companies) to know which treatments to study in clinical trials.
  • Researchers who are interested in studying new treatments for hypersomnia can contact CoRDS, and CoRDS will then contact people who have checked the box during registry enrollment that they are interested in participating in additional research.

Who is paying for the Registry?
The CoRDS registry at Sanford is funded by philanthropy. All costs pertaining to the Hypersomnia Foundation’s hypersomnia-specific registry have been covered by the generosity of a donor who contributed funds restricted to use for the Hypersomnia Foundation Registry.

What can I do?
Go to the new Hypersomnia Foundation Registry page on our website at http://www.hypersomniafoundation.org/registry/. There you will find a variety of resources.

  • A list of frequently asked questions
  • Step-by-step instructions to enroll in the Registry
  • Tips to help you enroll in the Registry and complete the questionnaires
  • A video of Dr. Lynn Marie Trotti’s presentation, INFORMATION IS POWER, at the Hypersomnia Foundation’s regional conference in June 2016.

As Dr. Trotti said, “This Hypersomnia Foundation Registry is the single most important thing people with hypersomnia can do!”

Be counted, help solve the puzzle, and complete the CoRDS questionnaires today!

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Complete the CoRDS Registry to Raise Funds for Research!

Hypersomnia Australia is designating September 5- 11th as Idiopathic Hypersomnia Awareness Week. Their theme this year is Improving Quality of Life.

We can’t think of a better way to improve the lives of people with Idiopathic Hypersomnia than to make a special push toward research and finding new treatments – and one day, a cure.

Throughout the month of September, YOU can have a big impact on working towards these goals. The Hypersomnia Foundation’s Board will donate $50 to the Foundation’s Restricted Research Fund for every person with hypersomnia (or a related sleep disorder) who completes the patient registry at CoRDS by September 30th!

So, by registering with CoRDS and completing the registry by the end of September, you score a double win: your completed questionnaire gives researchers another piece of the puzzle and you raise $50 towards funding research. (If you began the questionnaire but didn’t finish it, coming back to complete counts!]

Read on for more details and tips for completing the registry, and then click the CoRDS link below to get started today!

What is the Coordination of Rare Diseases at Sanford (CoRDS) registry?
“…CoRDS is a centralized international patient registry for all rare diseases.  The goal of the CoRDS registry is to connect as many patients and researchers as possible to help advance treatments and cures for rare diseases.” Be assured that your identity is completely confidential. Your personal information will be given an ID number, which will then be linked with your responses to questionnaires – no researcher or the Hypersomnia Foundation will ever be able to connect your personal information with your ID number.

Who should participate in the CoRDS hypersomnia-specific registry?
Any person diagnosed with a central disorder of hypersomnolenceidiopathic hypersomnia, narcolepsy type 1 or 2, or Kleine-Levin syndrome—can contribute valuable information. For example, researchers want to know which symptoms are more common to each of these disorders as well as those symptoms that affect everyone with one of these disorders.

If my identity is protected, how will HF know if I have completed the registry?
CoRDS will simply provide the number of registrations on of September 1st and 30th.

OK, I’m ready to make my contributions to research!!  How do I get started??
You can also complete registration via regular mail by calling CoRDS at (877) 658-9192 or sending an email to cords@sanfordhealth.org and requesting paper versions of the Registry materials. If you would like to complete it online, click the link below or copy it into your browser. (It works best with updated versions Internet Explorer, Google Chrome, or Mozilla Firefox.)

https://cordsconnect.sanfordresearch.org/BayaPES/sf/screeningForm?id=SFSFL

OK, I’m on the site – now what?

Step 1: You will be asked to answer some basic questions in a SCREENING FORM.

TIP: Once you have completed the screening form and clicked submit, on the next screen, your first name will become your user name. You will be asked to select a password and set up a security question. Please make note of these responses.

The next screen confirms that you have submitted your screening form, but you are not yet enrolled.

Step 2: : Click the button at the top of the screen that says, Start Questionnaire.

TIP:  click on the SAVE & NEXT button in the upper right-hand corner of the screen to proceed to the next set of questions. Some people had a hard time finding how to proceed.

TIP: A question requires you to calculate your age at time your symptoms began. Here is a link to an online calculator to help determine age: http://images.pearsonclinical.com/images/ageCalculator/ageCalculator.htm

Step 3 – the most important part!: The final piece is the Hypersomnia Questionnaire. Please be as complete as possible in answering these questions. Although none of the questions are required, researchers may not be able to use your responses in their work if you do not answer all of the questions.

TIP: Take your time. Take a breather. You can save the questionnaire at any point, close out and log back into the registry at a later date in (if you remember your user name and password). Even if you have clicked SUBMIT at the end of the questionnaire, you can go back at any time and update your answers.

TIP: The questions do not get harder as you go along! In other words, if you come across a couple of tough questions, don’t assume that the rest of the questions will be difficult. Some people find it easier to go through the entire questionnaire to answer all the “easy” questions first, taking note of which questions they need to come back to and complete.

TIP: Because you can move onto the next page even if you have not answered all of the questions on your current page, please review your answers or make note of those questions that you have not answered before saving and clicking to the next page.

TIP: Some of the “pages” are long. Please scroll to the bottom of each page to “submit.”

TIP: Depending on your diagnosis, you might be invited to participate in additional questionnaires from other organizations. It is entirely up to you if you complete those questionnaires.

ONCE YOU HAVE COMPLETED EVERYTHING AND CLICKED SUBMIT – CONGRATULATIONS!

You’ve made a very valuable contribution to solving the puzzle of Hypersomnia. And if you have completed your questionnaire by September 30th, you’ve also earned $50 for research!

We are most grateful to the members of the PAAC (People with hypersomnia And Advocates Council), who have completed the Registry and provided these valuable tips. If you have any questions about the enrollment process or how to complete the three steps, please contact CoRDS at (877) 658-9192 or cords@sanfordhealth.org

If you have already completed the CoRDS registry, fantastic! Please help get the word out to the hypersomnia community and encourage others to take part and complete it. If not, please enroll in the Hypersomnia Registry at CoRDS today. Your enrollment during the month of September will provide answers and simultaneously fund research. Together we can solve the puzzle of hypersomnia one piece at a time!

Posted in: CoRDS Registry

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Ask the Doctor

Is There a Doctor in the House?

Yes!

The Doctor Is in and Here for YOU!

The Hypersomnia Foundation is pleased to announce the launch of a new resource for readers of SomnusNooze called Ask the Doctor.

The Nuts ‘n Bolts of Ask the Doctor

What is an Ask the Doctor column?
Ask the Doctor columns, or some form thereof, typically appear in medical newsletters for public consumption and address medical matters of interest to the readership.

How will the Hypersomnia Foundation’s Ask the Doctor column work?
Readers will submit their questions to atd@hypersomniafoundation.org. We reserve the right to modify your questions so that they apply to a broad audience and for grammar and clarity.  Members of the Foundations Medical Advisory Board will answer the questions, which we will then publish in SomnusNooze.

What kinds of questions can be submitted?
Questions that will be accepted for the column are those that are of general interest to the readers. However, they must be related to one of the three central disorders of hypersomnolence: idiopathic hypersomnia, Kleine-Levin syndrome, or narcolepsy. We cannot take questions that are related to a personal diagnosis or personal treatment. In other words, questions that seek medical advice will NOT be considered.

Who are the physicians behind Ask the Doctor?
As mentioned previously, members of the Hypersomnia Foundation’s Medical Advisory Board will be responding to these questions. You can see a complete list of our Medical Advisory Board on the Hypersomnia Foundation’s website at http://www.hypersomniafoundation.org/about-us/medical-advisory-board/.

We thank the members of our Medical Advisory Board for their willingness to be available to our readers and support the Hypersomnia Foundation in yet another way.  And, we thank YOU, our readers, for making this resource as robust and helpful as possible.

Introducing New Members of the Hypersomnia Foundation Medical Advisory Board

The Board of Directors of the Hypersomnia Foundation is thrilled to announce two additions to the Medical Advisory Board: Dr. Jason Ong and Dr. Michel Lecendreux. If you attended the 2016 Beyond Sleepy Regional Conference in Denver, or watched the Livestream, you have already “met” these two sleep clinicians. This month, we will formally introduce you to Dr. Ong and, next month, to Dr. Lecendreux.

Dr. Jason Ong is an Associate Professor of Neurology at Northwestern University Feinberg School of Medicine. He received his PhD in clinical psychology from Virginia Commonwealth University and completed a fellowship in Behavioral Sleep Medicine at Stanford University Medical Center. His primary research interest involves demonstrating the effectiveness and value of behavioral treatments for sleep disorders, including cognitive-behavioral therapy and mindfulness meditation. Specifically, Dr. Ong is interested in the psychosocial impact of hypersomnia, and his lab has been developing an intervention to aid in coping with chronic hypersomnia. Additional research interests include the impact of sleep disturbance on chronic health conditions. His clinical interest is aimed at delivering empirically supported behavioral treatments to patients with sleep disorders, which complements and informs his clinical research. Dr. Ong is currently the president-elect of the Society for Behavioral Sleep Medicine.

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Service and Therapy Animals — Part 1: Getting Started

We begin this three-part series with a basic overview of the different types of service, emotional support and therapy animals.

therapydogSo, you’re thinking about getting, or someone has recommended that you get, a service dog, therapy animal, or emotional support animal (ESA). Or perhaps you have reached the decision that you need a service animal to help with your disability. Whether you self-train your animal, work with a professional trainer, or obtain an animal that has already been trained, ask a million questions to make sure that you have all the information you need. Getting an animal is at least a 10-year commitment for you and a lifetime commitment for your animal.  There are differences among the three main types of “working” animals. The following information will help you distinguish among these three types.

  • A service dog (can also be a miniature horse with some stipulations) is any dog that has been individually trained to do work or perform tasks for the benefit of an individual with a disability that they cannot do for themselves because of their disability. There are many types of service dogs and many different types of tasks that they might be asked to perform. A service dog does not have to be tested, registered, or insured and has access to most places where the general public is allowed.
  • A therapy dog (or other therapy animal) is tested, registered, and insured to go with its owner to visit facilities, such as hospitals, nursing homes, and schools, and to participate in reading-to-children programs. These animals are only permitted where they have been invited, and permission has to be obtained from the organization the animals are visiting. In addition, documentation of training of the animal by a reputable organization must be provided to the organization.
  • An ESA is a dog or other common domestic animal that provides therapeutic support to a disabled or elderly owner through companionship, nonjudgmental positive affection, and a focus in life. If a doctor determines that a person with a disabling mental illness would benefit from the companionship of an ESA, the doctor writes a letter supporting the person’s request to keep the ESA in “No Pet” housing or to travel with the ESA in the cabin of an aircraft. ESAs are not task-trained service animals. ESAs do not have to be tested, registered, or insured, but people who have an ESA require a letter from a doctor stating their need.

Only a judge can truly determine whether a person is legally disabled. Should the case arise in which a person with a service animal is brought to task, that person must be able to show that they are indeed disabled and that their service animal performs tasks to help with their disability—tasks that the person cannot do.

To begin, you should discuss getting a service dog or with your medical caregivers and think about your living arrangements and whether you have the financial resources to have a service dog. To find a service dog program or trainer, you can begin your search on the Internet, but remember, just because the program or trainer appears on a list on the Internet, it does not mean that the program or trainer is qualified. You still need to do more research.

Kimberly Brenowitz is a volunteer with Animals Deserve Better, Inc., and Paws for Life in Marietta GA. She can be reached at adb@animalsdeservebetter.com.

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What’s New in the Diagnosis and Treatment of Hypersomnia in 2016?

Rather than writing our own article for this week’s edition of SomnusNooze, we are bringing you information from Dr. David Cunnington in Melbourne, Australia. Dr. Cunnington has agreed to share with us a recent post from his website (sleephub.com.au) that covers hypersomnia-related topics from the SLEEP2016 meeting in Denver. A podcast, which covers hypersomnia and other SLEEP2016-related topics, is available at sleephub.com.au/podcast (click on Sleep 2016 Update).

From Dr. Cunnington
In clinical practice it can be difficult accurately diagnosing people with hypersomnia and excessive sleepiness. Apart from narcolepsy with cataplexy, or type 1 narcolepsy, where there are distinct symptoms, and the possibility of testing orexin levels in cerebrospinal fluid, it can be hard to make an accurate diagnosis. Managing people with hypersomnia can also be difficult, as a substantial proportion of people are refractory to treatment with currently available wake-promoting medication.
Issues around diagnosing and treating hypersomnia were discussed at the recent Sleep2016 meeting in Denver, and I’ve tried to summarise some of the main issues that were covered.

Issues With Diagnosing Hypersomnia
The International Classification of Sleep Disorders 3rd Edition (ICSD-3), divides central disorders of hypersomnolence into narcolepsy type 1 (with cataplexy), narcolepsy type 2 (without cataplexy), idiopathic hypersomnia (IH) and then a range of other hypersomnias secondary to medical or psychiatric conditions or medications and the rare condition, Kleine-Levin syndrome.
The criteria for the diagnosis of IH listed in ICSD-3 are:

  • The patient has daily periods of irrepressible need to sleep or daytime lapses into sleep occurring for at least three months.
  • Cataplexy is absent.
  • A Multiple Sleep Latency Test (MSLT) performed according to standard techniques shows fewer than two sleep-onset REM periods or no sleep-onset REM periods if the REM latency on the preceding polysomnogram was less than or equal to 15 minutes.
  • The presence of at least one of the following:
    • The MSLT shows a mean sleep latency (MSL) of ≤ 8 minutes.
    • Total 24-hour sleep time is ≥ 660 minutes (typically 12–14 hours) on 24-hour polysomnographic monitoring (performed after correction of chronic sleep deprivation) or by wrist actigraphy in association with a sleep log (averaged over at least seven days with unrestricted sleep).
  • Insufficient sleep syndrome is ruled out (if deemed necessary, by lack of improvement of sleepiness after an adequate trial of increased nocturnal time in bed (preferably confirmed by at least a week of wrist actigraphy).
  • The hypersomnolence and/or MSLT findings are not better explained by another sleep disorder, other medical or psychiatric disorder, or use of drugs or medications

Whilst people with narcolepsy type 1 can usually be differentiated from these criteria, narcolepsy type 2 and hypersomnia associated with medical or psychiatric disorders can often overlap significantly with these symptoms. In addition, I often see people with most, but not all, of these symptoms. What do they have? They clearly have a problem, as they have been severely impacted by their symptoms and sleepiness. How much sleep and sleepiness is normal? Some surveys suggest around 8% of people sleep for more than 9 hours per day, and 1.6% of people report sleepiness intruding on their waking activities. One of the tests we commonly use, the MSLT, whilst helpful, can be negative in people with all the other symptoms of IH. In one study, 71% of people with long sleep times and other symptoms of IH had a mean sleep latency of > 8 minutes. In addition, unpublished data from Emory University has shown that around 50% of people with chronic fatigue syndrome meet the MSLT criteria for IH. Other studies have shown that 25% of people with hypersomnia due to psychiatric conditions have an MSL of < 8 minutes.

There really wasn’t any clear consensus on how exactly to define hypersomnias and IH. Unfortunately there are not good biological markers, and trying to make a definite diagnosis based on symptoms is fraught with difficulty. So an approach put forward by the team from Emory and that seems to make sense is to try to exclude other factors that can add to sleepiness symptoms, such as depression and circadian rhythm disorders, as well as getting a number of objective measurements of sleepiness and it’s impact. They do this by performing the below tests and assessments:

Although the team at Emory were testing cerebrospinal fluid levels of GABA potentiation in everyone with hypersomnia at one point, they are not doing this routinely at the moment and have found that people with sleepiness due to other causes such as sleep apnea can also have GABA potentiation, meaning that what they had previously described as a “somnogen” may not be specific for IH, but may in fact be a mediator of sleepiness symptoms in a range of conditions.

Options For People Refractory To Available Treatments

With regard to treatment, we often find people with IH are refectory to treatment, and some groups report around 50% of people on modafinil not persisting with treatment because of a lack of efficacy, and only 30% to 60% of people on dexamphetamine continuing with treatment. Given this, other treatments to address symptoms of sleepiness symptoms are needed.

Clarithromycin – has been used by the team at Emory who published their research in Annals of Neurology in 2015. In that study, they treated 23 people with clarithromycin, and they reported the results on 20 cases using clarithromycin 500 mg twice daily. They did not show changes in reaction time but did show subjective measures of sleepiness were significantly improved. People did get gastrointestinal side effects and changes in taste, so it was not well blinded, so it is a little hard to know exactly how to interpret that, but, nonetheless, this may be a helpful agent.

Flumazenil – has also been used at Emory. At the meeting, they presented their experience with 153 patients they treated between 2013 and early 2015. They administered flumazenil as sublingual lozenges or transcutaneous lotion. Overall, 63% of people felt flumazenil had helped their sleepiness, dropping the mean Epworth Sleepiness Score in the group from 15 to 10.3, and 39% of people remained on treatment at the end of the observation period, which was an average of 7.8 months. Interestingly, one of the predictors of clinical response was the presence of significant sleep inertia, with 72% of those with sleep inertia getting a good response versus 42% of those without sleep inertia.

Sodium oxybate (Xyrem) – is another treatment that was discussed for sleep inertia, which can be one of the most difficult symptoms to manage in people I see with hypersomnias. Whilst Xyrem is most commonly used in treating narcolepsy, Isabelle Arnulf from Paris has treated a number of people with IH with sodium oxybate. Their results, published in Sleep Medicine in 2016, showed that it can reduce morning sleep inertia and probably had a greater effect on this than on overall sleepiness symptoms.

JZP-110 – is a compound being developed by Jazz Pharmaceuticals that has both dopaminergic and noradrenergic activity. In two small clinical trials with a total of 126 subjects, it has been shown to increase the MSL on a Maintenance of Wakefulness Test by 8.9 minutes. This may not sound like much, but, in comparison, in the sentinel modafinil studies, MSL increased by 2.3 minutes, and, for dexamphetamine, there is a 5.6-minute change. So, at this stage, results for JZP-110 look promising, and it appears to be significantly more effective than modafinil or dexamphetamine. Larger phase 3 trials, aiming to enroll more than 800 subjects with sleepiness started in mid 2015, and results are expected at the end of 2016.

Non-drug treatments – There is increasing acknowledgement that medications only partially address symptoms of sleepiness and that there is a role for psychological and behavioural treatments to reduce the impact of symptoms in people with hypersomnias and other conditions that cause sleepiness. For people with narcolepsy with cataplexy, napping has long been used as a strategy, but for people with IH, napping as a strategy often doesn’t work, as they can’t have short naps and have significant sleep inertia on waking from naps. Research on behavioural strategies to help manage symptoms of sleepiness is now being undertaken, and I had a chance to talk with Assistant Professor Jason Ong about it at the meeting in the following interview: Sleep Talk: Episode 8 – Sleep 2016 Update.

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Together, We Can Solve the Puzzle of Hypersomnia

Together, We Can Solve the Puzzle of Hypersomnia

Together, We Can Solve the Puzzle of Hypersomnia

What is a Patient-Powered Registry? Simply put, a patient registry is a collection—for one or more purposes—of standardized information about a group of patients who share a condition or experience. According to a publication from the Agency for Healthcare Research and Quality Research, "Patient-powered registries and patient-powered research networks offer new directions for patient-centered outcomes research, and contribute to translational science in important ways. Experts agree that these registries are transforming patient/caregiver support and advocacy groups into research organizations. They also provide patients and family members another way to become engaged in research beyond the role of advisor or informant to researcher-generated studies." In 2015, Dr. Michael Twery, Director of the National Center on Sleep Disorders Research at the National Institutes of Health, told the Hypersomnia Foundation that establishing a patient-powered  registry was the most important thing that we could do. Therefore, a group of volunteers, including Board members, CoRDS (Coordination of Rare Diseases at Sanford), and the Medical and Scientific Advisory Boards of the Hypersomnia Foundation spent the past two years developing questionnaires to collect standardized information from people who have been diagnosed with one of the central disorders of hypersomnolence: idiopathic hypersomnia, Kleine-Levin syndrome, or narcolepsy (type 1 or 2).   What is an IRB? The purpose of an Institutional Review Board (IRB) is to weigh the risks and benefits of participating in research and to protect the rights and welfare of the research participants. The IRB must review and approve all “research” that involves human participants before beginning the research. Only when the answer is to all of the following questions is “yes,” to all of the following questions, you are conducting research: Was information collected in a systematic manner (that is, according to a predetermined set of rules)? Will information be used to draw conclusions about a general principle or question?  Will the information be distributed beyond the immediate setting in which it was collected?

What is a Patient-Powered Registry?
Simply put, a patient registry is a collection—for one or more purposes—of standardized information about a group of patients who share a condition or experience. According to a publication from the Agency for Healthcare Research and Quality Research, “Patient-powered registries and patient-powered research networks offer new directions for patient-centered outcomes research, and contribute to translational science in important ways. Experts agree that these registries are transforming patient/caregiver support and advocacy groups into research organizations. They also provide patients and family members another way to become engaged in research beyond the role of advisor or informant to researcher-generated studies.”
In 2015, Dr. Michael Twery, Director of the National Center on Sleep Disorders Research at the National Institutes of Health, told the Hypersomnia Foundation that establishing a patient-powered  registry was the most important thing that we could do. Therefore, a group of volunteers, including Board members, CoRDS (Coordination of Rare Diseases at Sanford), and the Medical and Scientific Advisory Boards of the Hypersomnia Foundation spent the past two years developing questionnaires to collect standardized information from people who have been diagnosed with one of the central disorders of hypersomnolence: idiopathic hypersomnia, Kleine-Levin syndrome, or narcolepsy (type 1 or 2).  
What is an IRB?
The purpose of an Institutional Review Board (IRB) is to weigh the risks and benefits of participating in research and to protect the rights and welfare of the research participants. The IRB must review and approve all “research” that involves human participants before beginning the research. Only when the answer is to all of the following questions is “yes,” to all of the following questions, you are conducting research:
Was information collected in a systematic manner (that is, according to a predetermined set of rules)?
Will information be used to draw conclusions about a general principle or question? 
Will the information be distributed beyond the immediate setting in which it was collected?

Wouldn’t you like to do something to help solve the puzzle of hypersomnia? Well you can! Sharing information about your symptoms, your previous treatments, and your diagnostic journey as part of the Hypersomnia Registry at CoRDS (Coordination of Rare Diseases at Sanford) holds the key to solving this complicated puzzle called hypersomnia.

Anyone can gather information on the Internet through polls, questionnaires, or surveys, but, to publish their results in a medical journal, researchers can use only information that has been obtained in a very specific manner that incorporates legal informed consent and privacy regulations. Therefore, CoRDS has put many safeguards into place to ensure that researchers can use the information you provide.

The first step is called Institutional Review Board (IRB) approval. (Take a look at the side bar accompanying this article to learn more about IRBs). The IRB at Sanford Research approved not only the CoRDS registry questionnaire, but also the hypersomnia-specific questionnaire that is part of the registry. Any researchers who want to use the information in the registry also have to obtain a first approval from their own IRBs and then a second approval from the Sanford IRB.

The second step in safeguarding your information is informed consent. This means that, in the process of signing  up to participate in CoRDS, you are given a chance to read information about the registry and you then sign a form that indicates you understand what you are doing. You can sign this form either electronically, if you are filling out the questionnaires on line, or with a pen, if you are completing the paper version of the registry. If you have any questions, you can call or send an email to CoRDS before you sign the consent form.

Thirdly, the information you provide is kept strictly confidential. The questionnaires that you complete will never be associated with your name—a computer generates an ID number that is assigned to your identifiable information (name, address, etc.) and to your responses to the questionnaires. Your identifiable information is then kept in one database and your questionnaire responses, tagged only with the ID number, are in a separate database (this is called de-identified data). Once researchers receive approval to look at the registry or questionnaire responses, they will be given only the de-identified data. The Hypersomnia Foundation does not have access to any of the information at any time.

Your privacy is also protected even if you indicate on your questionnaire that you are willing to be contacted to participate in additional research projects. For example, researchers might contact CoRDS and tell them that they want to send an additional questionnaire to all participants who have a specific symptom, such as long sleep time (> 11 hours/24 hours). CoRDs personnel would then contact everyone in the registry who indicated that they sleep for more than 11 hours per day and would like to participate in additional studies. CoRDS would provide these people with the researchers’ contact information, and it would be up to the individual people whether they contact the researchers to participate in the additional research.

Participating in the Hypersomnia Foundation Registry at CoRDS is a simple way for you to take part in research into the causes and treatments of hypersomnia. When we all complete the questionnaires, researchers will be able to compare our answers with those of hundreds, if not thousands, of others. The researchers will then be able to detect patterns, identify common symptoms, better define the disorders, and gain insights into what treatments work and those that don’t.

If every person with hypersomnia completed these simple questionnaires, researchers would be able to perform a crucial first step in research: to map the natural history of the disorder. Later this year, the Food and Drug Administration will be accepting applications for up to $400,000 in funding per year over the next five years to conduct natural history studies in rare diseases. To be competitive in the grant process, hypersomnia researchers will need your help. They will need a large database of information on patients with idiopathic hypersomnia, KLS, and narcolepsy, all of which are rare diseases. This is the first of many reasons why your participation in the Hypersomnia Foundation Registry at CoRDS is so vital.

Becoming part of the registry is easy. Won’t you take an hour of your time to help solve the puzzle of hypersomnia? Simply go to http://www.sanfordresearch.org/cords/ and click on the ENROLL NOW button to become a part of the Hypersomnia Registry at CoRDS. And feel free to download the new CoRDS/Hypersomnia Registry logo and make it your photo on Facebook.

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