Hypersomnia Foundation

Posts Tagged 'idiopathic hypersomnia'

2017 #BeyondSleepy in Boston

Hypersomnia Foundation Regional Conference on June 4th

The Hypersomnia Foundation (HF) board is finalizing the program for its 2017 Boston Regional Conference. We will provide Eventbrite registration details in the near future via Facebook, Twitter and Somnusnooze.

Information below will help you begin making your travel plans to Boston. Read to the bottom for information on special hotel accommodations!


Conference Schedule (As always, social activities are optional):

Saturday – June 3

  • 2:00-4:00PM-Old Town Trolley Tour https://www.trolleytours.com/boston#home-section  
  • Survey responders voted the trolley tour #1 choice for our Saturday afternoon activity.  Sit back, relax and discover all that Boston has to offer by means of this sightseeing tour!  Group booking arrangements will be available through our Eventbrite once it is live, and we anticipate the per person rate will not exceed $36.00 (seating will be limited).
  • 7:30PM – Meet and Greet Game Night
  • Enjoy a casual meet and greet with light snacks and games hosted by the HF Board at the Residence Inn Boston Harbor on Tudor Wharf.This event is FREE but you will need to register once our Eventbrite is live.

Sunday-June 4

  • 1:00-4:30PM – HF Regional Conference at the historic Boston Public Library at Copley Square, 700 Boylston St., Boston, MA 02116
  • We have booked Rabb Lecture Hall in the newly renovated Johnson Building at the Boston Public Library for another fabulous regional conference featuring dynamic speakers.In this state-of-the-art facility, our outstanding speakers will cover research updates on idiopathic hypersomnia and related disorders. This year’s conference, however, will also focus on advocacy and empowerment to assist people with hypersomnia and their supporters navigate this world living with a chronic, rare disorder.

COST OF CONFERENCE ATTENDANCE - We understand Boston can be pricey. With this in mind, we have been hard at work negotiating the perfect location and space for our conference. The stars aligned and this year attendance to this event will be FREE!
Due to limited space you will need to register for the conference once the Eventbrite is live.

At this moment we are not 100% certain that Livestreaming the event will be possible, but are working diligently to identify sponsorship to help cover AV and Livestreaming costs. Watch for updates.

Hotel Accommodations – For Saturday night, June 3rd, The Residence Inn Boston Harbor on Tudor Wharf has offered a special group rate of $289.00 USD per night (plus tax) for a studio suite.   All rooms include complimentary breakfast and in-room high-speed internet access.  These discounted rooms are limited and we cannot stress enough to book early!

This Residence Inn has generously agreed to offer this same rate for a limited number of rooms for Friday (June 2) and Sunday (June 4) nights as well.

To make a reservation guests can either call 800-331-3131 to the central reservation team (be sure to mention the Hypersomnia Foundation room block) or book online through this link:

Book your group rate for Hypersomnia Foundation

With specific hotel questions please contact Dory Noll at the Residence Inn,
at 617-933-5313 and she will be happy to assist you.

Details about registration for the Saturday trolley tour and the meet and greet, as well as for Sunday’s Regional Conference will be highlighted in a future SomnusNooze once program details have been finalized.

We look forward to connecting with everyone in Boston!

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Ask the Doctor: Narcolepsy vs Idiopathic Hypersomnia

Ask the Doctor: Narcolepsy vs Idiopathic Hypersomnia:

What’s the Difference?

My 9-year-old son recently was diagnosed with IH but can’t exclude narcolepsy. We got a second opinion and the doctor agreed. I don’t understand why they don’t have a definitive answer. The doctors told me to not to worry about narcolepsy vs. hypersomnia. Can anyone help me understand the difference? And is it possible to have IH and beginning stages of narcolepsy?
Dr David Plante presenting at the Beyond Sleepy in the Mile High City Conference
Both narcolepsy and idiopathic hypersomnia (IH) are considered central disorders of hypersomnolence (CDH). They share similarities, most important of which is the requirement that patients with both disorders must experience significant excessive daytime sleepiness. From a diagnostic standpoint, sleep medicine uses the multiple sleep latency test (MSLT), a repeated nap study performed after polysomnography (PSG; an overnight sleep test), to help identify and characterize central disorders of hypersomnolence. One of the primary results of these tests used to determine whether a patient has narcolepsy or IH is based on the number of sleep onset REM periods (SOREMPs), during which individuals go into REM sleep much faster than is typical. Patients with narcolepsy have 2 or more SOREMPs on PSG/MSLT testing, where patients with IH do not.

There are differences in other clinical symptoms experienced by patients that can be used to help clarify whether a person has narcolepsy or IH. For example, patients with IH often sleep excessive amounts of time and have severe difficulty waking up after sleeping (i.e. excessive sleep inertia). Patients with narcolepsy frequently do not sleep excessive amounts of time, and may find brief naps refreshing. Many patients with narcolepsy also experience symptoms related to REM sleep instability such as sleep paralysis (waking from sleep in a paralyzed state) and hallucinations around sleep onset/offset, thought to be due to inappropriate combinations of REM sleep and waking brain function. In addition, some patients with narcolepsy experience cataplexy, the sudden loss of muscle tone in response to emotions such as laughter. Cataplexy is almost never seen outside of narcolepsy, and thus when patients have this symptom, there is high suspicion that the patient does indeed have narcolepsy.

Sometimes, the clinical history and results of PSG/MSLT testing do not neatly align. Although I do not have the specifics in the case of your son to comment definitively, it is certainly possible that the results of his sleep testing have shown he is pathologically sleepy consistent with IH, but did not have enough SOREMPs to be diagnosed with narcolepsy. He may also have clinical symptoms that are more suggestive of a narcolepsy diagnosis than IH, which is why there is some ambiguity around the diagnosis. Sometimes retesting can help clarify the diagnosis, but not always. Because initial treatment of both narcolepsy and IH often involves stimulants, oftentimes treatment is initiated for practical reasons to try to improve the patient’s symptoms, since the precise diagnosis may not alter initial clinical management, particularly in the early stages of treatment.

David T. Plante, M.D.
Assistant Professor, Department of Psychiatry
Program Director, Sleep Medicine Fellowship
University of Wisconsin School of Medicine and Public Health


Glossary of terms:

Central Disorders of hypersomnolence (CNS): As defined by the ICSD-3 rd –Include Narcolepsy Type 1, Narcolepsy Type 2, Idiopathic Hypersomnia, and Kleine- Levin Syndrome. They also include hypersomnolence caused by a medical disorder, medication or substance, psychiatric disorder and insufficient sleep disorder.

Rapid Eye Movement (REM) sleep: One of the two basic states of sleep. REM sleep, also known as dream sleep, is characterized by rapid eye movements, and more irregular breathing and heart rate compared to NREM sleep, the other basic state of sleep.

Sleep Onset REM Period (SOREMP): REM periods within 15 minutes of sleep onset, considered to support the diagnosis of narcolepsy.

Sleep Inertia: Feelings of grogginess and sleepiness that occur upon awakening that can result in impaired alertness and may interfere with the ability to perform mental or physical tasks.

Sleep Paralysis: involves the temporary inability to move, speak, or take a deep breath while falling asleep or waking up.

Hypnagogic or hypnopompic hallucinations: Sensory experiences involving the apparent perception of something that is not present, that occur at the transition from wakefulness to sleep (hypnagogic) or from sleep to wakefulness (hypnopompic). These hallucinations are typically visual in nature, but can affect other forms of sensation such as hearing or sense of touch.


 

Disclaimer for Ask The Doctor: The medical information provided is meant for educational purposes only and not as a substitute for professional medical care or advise.  Questions about a personal health condition should be discussed with your healthcare professional.

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Passing the Torch

Passing the Torch

Changing Roles at Hypersomnia Foundation

Catherine Friedrich Murray, one of the founders of the Hypersomnia Foundation, will step down from the Foundation’s Board of Directors when her term of office concludes on January 18, 2017. The Board of Directors has elected Diane Powell to assume Cate’s position as Chair. Diane, who has been a member of the Board since October 2015, says “I feel so fortunate to have had Cate’s example and her wisdom to prepare for this change. She has always been a great source of inspiration, and I know that we can always reach out to her for advice for the Hypersomnia Foundation.”

Ms. Powell, who is a licensed clinical social worker, has worked on fundraising for the Hypersomnia Foundation, including the recent “Let’s Get #BeyondSleepy” campaign, the most successful in the Foundation’s history. She is also a facilitator and liaison with the Foundation’s People with Hypersomnia and Advocates Advisory Council (PAAC), with whom the Board consults regarding the priorities and needs of the hypersomnia community.

Ms. Murray has pledged her continuing support of the Hypersomnia Foundation and recalls with great fondness the first conversation that she had with David and Cat Rye about starting the organization: “I had enjoyed my work with Dr. Rye when I was the executive director of the Restless Legs Syndrome Foundation. When he called me out of the blue almost four years ago and asked for my help, I was taken aback. Who could possibly have leaked the news that my daughter had been diagnosed with idiopathic hypersomnia just a few weeks before? But, of course he didn’t know. It was simply serendipity.”

“The past three years have been exciting, challenging, and so rewarding, as we have touched countless lives, educated physicians mom2and scientists, and helped people to understand that they are not alone in their struggles with hypersomnia. Of all that we have accomplished as an organization, and that list is long, I am most proud of the incredible research tool that I played a small part in launching, the Hypersomnia Foundation’s Registry at CoRDS. More than 500 members of the hypersomnia community have generously contributed their valuable information, and I firmly believe that this registry will change the face of hypersomnia and of hypersomnia research for decades to come.”

“There is so much work yet to do, but I rest assured knowing that the Hypersomnia Foundation is in very capable hands. I look forward to greeting old and making new friends at the regional conference in Boston in June. As I concentrate on finishing my masters in nonprofit leadership, I will never be more than a phone call or email message away.”

New Board Members

The Hypersomnia Foundation is thrilled to announce the election of two new members of the Board of Directors.

Michelle Emrich is an internal medicine physician who gave up her cherished career after being diagnosed with severe idiopathic hypersomnia in 2011. She is passionate about raising awareness of and research funds to study the primary hypersomnias and, after recently serving on the Hypersomnia Foundation’s PAAC, is excited to begin serving on the Board of Directors.

Amy Haraden is a long-time supporter of and volunteer for the Hypersomnia Foundation and is delighted to expand her role to serve as a member of the Board of Directors. Prior to being elected to the Board, she was one of the founders of the PAAC and volunteered on the Council since its inception in late 2015. Amy is an accounting analyst at TripAdvisor and a graduate of Stonehill College (BSBA) and Northeastern University (MSA).

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Investing in the Future of People with Idiopathic Hypersomnia

An insatiable need to sleep that is not eased by a full night’s slumber is one of the debilitating effects of a rare, chronic neurological disorder called idiopathic hypersomnia (IH). In a society where feeling tired is the norm, IH is often unrecognized or misdiagnosed by medical professionals, as well as misunderstood by family members, employers, and society in general.

IH often strikes people in the prime of their lives. No US Food and Drug Administration-approved treatments exist, although wake-promoting medications are sometimes prescribed “off-label.” Unfortunately, these medications don’t work well for everyone, and most stop working over time or have bothersome side effects. Even when medications do help people with hypersomnia stay awake during the day, they may not help with other symptoms of IH, such as extreme difficulty making the transition from sleep to waking (called sleep inertia or sleep drunkenness) that can negatively impact mental and physical tasks and often manifests as cognitive dysfunction. The relentless nature of the disorder makes it extremely difficult for people with IH to hold down jobs, remain in school, maintain marriages, and fully engage with their family and friends.

The Scientific Advisory Board of the Hypersomnia Foundation is creating a plan to raise awareness about hypersomnia among clinical and basic science researchers. One key component of this plan is a grants program that will financially support innovative research applications that are most likely to positively impact the hypersomnia community. Announcement of this program to the scientific community will depend upon having funds in hand sufficient to attract the best science as well as sustain this initiative. There are multiple reasons that we need to fund research for IH:

  1. We don’t really know how many people have IH. This number is vital for scientists to apply for grants and so that we can encourage pharmaceutical companies to study IH.
  2. We don’t have a biomarker—a substance in the body, such as blood or spinal fluid—that can tell us whether or not a person has IH.
  3. The tests that we do have are often inaccurate, and repeating them is very expensive.
  4. No drugs have US Food and Drug Administration approval for the treatment of IH.

Your donation today to the Hypersomnia Foundation serves the mission to improve the lives of people with idiopathic hypersomnia and related disorders by advocating on their behalf, providing support, educating the public and healthcare professionals, raising awareness, and funding research into effective treatments, better diagnostic tools, and, ultimately, cures for these debilitating conditions.

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Getting Support From a Mental Health Professional

People with hypersomnia live with the constant challenges of having a chronic condition that’s not well known and is poorly understood even by researchers. Every day, there are calculations to be made:  How am I feeling? How are my meds working – or not? What do I need to accomplish – what’s realistic?  How much can I do before sleep is likely to take over?

Plans and goals may have to change, too:  What does the future hold for me? Will my symptoms or the effectiveness of my medications change?

It can be very helpful to have a support network, but many people with hypersomnia report hurtful, dismissive attitudes from family and friends. Managing a relationship and/or raising kids presents more challenges and compromises. Some choose not to tell others about their condition, especially at their place of work, and keeping that secret is likely to be extremely stressful.

With all of these issues to cope with, it’s very understandable that people with hypersomnia, like others with a chronic condition, may sometimes feel depressed and anxious. Stress, frustration, irritability, sadness, and even anger, are not unreasonable reactions.  But if these feelings frequently interfere with or prevent your enjoyment of your waking hours, it may be time to think about making an appointment with a psychotherapist.

“If I see a therapist, does that mean I’m crazy?”
I’ve been asked this many times. Usually it’s asked in a half-joking tone, but there’s a lot of anxiety behind the question.

The truth is, all kinds of people come to therapy; many have coped very well with other difficult problems in the past and are quite “normal” (however you choose to define that!). People often decide to talk to a therapist because their usual ways of coping aren’t working well for them anymore.

If you are still wavering, consider this: if there is a way to get more support, find better ways to cope, see your problems differently, or to improve your relationships – all of which are possible in therapy – why wouldn’t you explore that? (Please note that if you are feeling hopeless and having suicidal thoughts, it’s important to reach out for treatment right away:  call one of the crisis lines listed here: http://ow.ly/MVaS305zP24 for help and referrals.)

Having a chronic condition is difficult no matter how “strong” you are. Forget “crazy” – think “smart” and take care of yourself.

“How can therapy help me? What can a therapist say to me?
The best answers to these questions come from two people with IH who have spent time in therapy.

“My whole healing began with three actions; admitting anxiety was impacting my life, calling a therapist and actually going to the appointment, and making a personal commitment to rediscover my confidence, courage and grace.”

Another says: “Having now been through CBT* [cognitive behavioral therapy]/meditation for my illness [IH], I feel strongly that all of us humans need this, especially those of us with any chronic disease (or any stressor at all, which is everyone…). These are life/coping skills that should be taught starting in childhood and reinforced at every stage of life.”

There are no guarantees, of course, that one person’s results will be exactly the same as another’s, and doing the work of therapy takes time and effort. But there is also a relief in working with an objective, skilled and caring professional therapist, to know that each hour in the therapist’s office is time devoted only to you and is a place where you can speak freely and honestly. A good therapist can help you make real and lasting positive changes.

For further reading:

The Feeling Good Handbook by Dr. David Burns, MD. One of the best and most popular books about cognitive behavioral therapy.” (see below)

Full Catastrophe Living: Using the Wisdom of Your Body and Mind to Face Stress, Pain, and Illness, by John Kabat-Zinn. Meditation classes are sometimes based on this book and may be available in your area.

*Cognitive behavioral therapy (CBT) is a form of therapy that is goal-oriented; it involves examining and changing your behavior and patterns of thoughts, with the guidance and coaching of a therapist specially trained in CBT. A number of clinical studies have shown CBT to be effective for many conditions, including depression and anxiety.


Diane Powell is a Licensed Clinical Social Worker who has provided psychotherapy to clients for a wide variety of issues, both in private practice and agency settings. She is currently on the Board of the Hypersomnia Foundation.

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A Pilot Study of tDCS Looks Promising for the Treatment of IH

A Pilot Study of tDCS Looks Promising for the Treatment of Idiopathic Hypersomnia

Background

Idiopathic hypersomnia (IH) can severely impact affected individuals’ family, employment, education, and leisure activities. And because there are no FDA-approved drugs for the treatment of IH — and even those drugs that are prescribed off label are often not effective or only somewhat effective — researchers have continued to seek out non-drug (nonpharmacologic) treatments for IH.
When a group of researchers in Italy heard about the encouraging results of a study in which investigators used a positively charged electrode (anodal) transcranial direct current stimulation (tDCS) to treat the effects of sleep deprivation, they decided to try tDCS in patients with IH. tDCS is a noninvasive brain stimulation technique that creates temporary changes in the excitability of the cortex – the outermost part of the brain, which is responsible for executive function. In the United States, tDCS and transcranial magnetic stimulation are approved for the treatment of depression.

Who Were the Participants and What Did They Do?

Three men and five women with IH that had not previously been treated took part in the study. These participants were also not taking any medication for other medical conditions or had been on a stable dose of their other medicines for at least 6 months. Their average age was 35. They underwent overnight sleep testing (polysomnography) to rule out any other sleep cause of their sleepiness.

Each person completed several tests of neurocognitive function and depression and the Epworth Sleepiness Scale (ESS) before starting the study (T0) and after the study was completed (T1). They also repeated the ESS two and four weeks after the study was completed. All participants also filled out a 10-point visual analog scale (VAS) to rate their sleepiness before each treatment session and kept a sleep diary for the duration of the trial. Finally, the participants completed a test of attention, the Attentional Network Task (ANT), at T0 and T1.

Who Were the Researchers and What Did They Do?
Dr. Ferini-Strambi and his colleagues in Milan, Italy, performed neurologic examinations on each of the participants and used statistical methods to analyze the results of testing and completed scales.

The researchers applied anodal tDCS by placing one electrode over the left dorsolateral prefrontal cortex, with the cathode over the contralateral orbit. The treatment consisted of 3 sessions of tDCS per week for 3 weeks delivered between 8 am and 11 am. The researchers chose this early time of day to allow the peak stimulating effects of tDSC to subside before typical evening bedtimes so as to not interfere with sleep.

What Were the Results of the Study?

Seven of the eight participants (87.5%) reported improvement in their daytime sleepiness, including for up to two weeks after the end of the study. The results of the ESS supported this reported improvement. Average ESS scores at T0 were 13.25 and at T1 were 7.5. VAS scores dropped from 4.96 at T0 to 1.57 at T1. Improvements in the ANT were significant and reflected faster reaction times at T1 than at T0.


What Were the Authors’ Conclusions?
“The lack of a sham condition represents the main limitation of our study. In any case, our investigation supports the idea that tDCS may provide a valid alternative for the management of [excessive daytime sleepiness] in the treatment of IH and opens the way to further controlled studies.”

(A sham condition is similar to the use of placebo in a drug trial. During a randomized controlled trial that is testing a device, some of the participants are assigned to receive treatment with the device as it would normally be used. Others are assigned to treatment that appears to be using the device, but the device is never turned on or, in this case, does not deliver the stimulation. When the test is masked, or blinded, the participants do not know to which group they are assigned. This type of testing provides stronger results.)

Editor’s note: This safe procedure, tDCS, is being used regularly now for the treatment of depression. We look forward to the results of a larger randomized controlled study in IH, which, according to Dr. Ferini-Strambi, is underway. For more information on tDCS, please visit this link at the National Institutes of Health.

Galbiati A, Abutalebi J, Iannaccone S, et al. The effects of transcranial direct current stimulation (tDCS) on idiopathic hypersomnia: a pilot study. Arch Ital Biol2016:154:1-5.

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Ask The Doctor: Idiopathic Hypersomnia vs Type 2 Narcolepsy

Question: Is there an overlap between idiopathic hypersomnia and type 2 narcolepsy?

Answer: The short answer to this question is yesThe only way to definitively distinguish idiopathic hypersomnia (IH) from type 2 narcolepsy (T2N) is the number of sleep-onset REM periods (SOREMPs) on diagnostic testing. However, in a group patients with IH, T2N, or symptoms of excessive sleepiness who had normal results on a single Multiple Sleep Latency Test (MSLT), researchers showed that the diagnosis changed more than half of the time when the MSLT was repeated1—this means that some patients initially diagnosed with IH may later have a diagnosis of T2N, and vice versa, or they may have no sleep disorder diagnosed and then have T2N or IH on another MSLT, and, again, vice versa. In the general population as a whole (ie, not just those who are sleepy), the presence or absence of SOREMPs on repeated MSLTs is also quite variable,2 suggesting that this may not be the best feature to use in discriminating among diseases. Indeed, prominent narcolepsy researchers have concluded that the presence of “2 or more sleep-onset REM periods [eg, on the MSLT] does not appear to have any specific pathognomonic significance.”3

The idea that T2N can overlap in some of its clinical symptoms with IH, as opposed to MSLT features (that is, “signs” of REM sleep on napping), was first proposed by the Czech sleep neurologist Bedrich Roth.4 In noting that many patients with T2N experienced long sleep periods and sleep inertia, he proposed that both IH and T2N might be considered as part of the same phenotypic spectrum or continuum of “disease.” Roth’s interpretation found further support in his recognition of a potential common heritability in these primary hypersomnias (that is, individuals with T2N and others with IH often have family members with the other condition).

Additional support for concluding that T2N and IH are more alike than they are different comes from four independent sources and lines of inquiry.

  • First, nearly 20% of people with T2N sleep continuously for long periods (for example, for 11 out of 24 hours, thus, meeting the criteria for a diagnosis of IH).5
  • Second, bioactivity that enhances the inhibitory function of GABA has been found in the cerebrospinal fluid (CSF) of many people with T2N and people with IH, whereas the same CSF samples exhibit normal levels of hypocretin.6
  • Third, a substantial proportion of people with T2N and people with IH whose sleepiness/hypersomnia does not respond to traditional wake-promoting medications and whose CSF samples share an ability to excessively enhance GABA function respond positively to medications that are intended to suppress this enhancement (for example, flumazenil and clarithromycin).6,7
  • Fourth, results of a process called “cluster analysis” suggest that symptoms of IH (without long sleep time) and T2N are more similar than they are different.8 In cluster analysis, symptoms are compared among people while ignoring their official diagnosis, and new categories are created based on which symptoms or signs tend to occur together. In this study, three new “clusters” of disease were created:
    • People with T1N
    • People with IH with long sleep times (based on ICSD-2 criteria)
    • People with either T2N or IH without long sleep times

 

References

1          Trotti LM, Staab BA, Rye DB. Test-retest reliability of the multiple sleep latency test in narcolepsy without cataplexy and idiopathic hypersomnia. J Clin Sleep Med. 2013;9(8):789-795. PMID: 23946709.
2          Goldbart A, Peppard P, Finn L, et al. Narcolepsy and predictors of positive MSLTs in the Wisconsin Sleep Cohort. Sleep. 2014;37(6):1043-1051. PMID: 24882899.
3          Singh M, Drake CL, Roth T. The prevalence of multiple sleep-onset REM periods in a population-based sample. Sleep. 2006;29(7):890-895. PMID: 16895255.
4          Roth B. Narcolepsy & Hypersomnia. Basel, Switzerland: S. Karger Ag; 1981.
5          Vernet C, Arnulf I. Narcolepsy with long sleep time: a specific entity? Sleep. 2009;32(9):1229-1235. PMID: 19750928.
6         Trotti LM, Saini P, Koola C, LaBarbera V, Bliwise DL, Rye DB. Flumazenil for the treatment of refractory hypersomnolence: clinical experience with 153 patients. J Clin Sleep Med. 2016 [Epub ahead of print]. PMID:26149554.
7         Trotti LM, Saini P, Bliwise DL, Freeman AA, Jenkins A, Rye DB. Clarithromycin in gamma-aminobutyric acid-related hypersomnolence: a randomized crossover trial. Ann Neurol. 2015;78(3):454-65. PMID:26094838
8         Sonka K, Susta M, Billiard M. Narcolepsy with and without cataplexy, idiopathic hypersomnia with and without long sleep time: a cluster analysis. Sleep Med. 2015;16(2):225-231. PMID: 25576137.

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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!

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