Hypersomnia Foundation

Posts Tagged 'SomnusNooze'

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!

Posted in: BeyondSleepy, Conference, SomnusNooze, Uncategorized

Leave a Comment (0) →

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.

screen-shot-2016-11-14-at-7-41-34-pm
screen-shot-2016-11-14-at-7-43-46-pm
screen-shot-2016-11-14-at-7-43-33-pm

Posted in: SomnusNooze

Leave a Comment (0) →

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.

Posted in: SomnusNooze

Leave a Comment (0) →

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!

Posted in: SomnusNooze

Leave a Comment (0) →

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.

Posted in: SomnusNooze

Leave a Comment (0) →

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.

Posted in: SomnusNooze

Leave a Comment (0) →

Hypersomnia Research-Where We Are And Where We Are Headed

During the presentation by David Rye, MD, PhD titled “What are the latest developments in research on idiopathic hypersomnia?” at the Beyond Sleepy in the Mile-High City Hypersomnia Conference, he pointed out that, while on the one hand without a known biological biomarker there is a large unmet clinical need for people with idiopathic hypersomnia, on the other hand a growing awareness garnering increasing interest and recognition within the medical community is gaining momentum.

Following is an abbreviated summary of his talk prepared by Dr. Michelle Emrich.  As Dr. Rye had mentioned this is not an all-inclusive list but specific highlights of recent development in research, collaboration, and treatments of idiopathic hypersomnia:

  • In the fall of 2016 The Emory University sleep research team and collaborators anticipate applying for a newly announced FDA orphan products natural history grant that has the possibility to yield $400,000/yr of additional financial support for up to 5 years.
  • Nearly half of chronic fatigue syndrome patients meet MSLT criteria for IH. Data not yet published. Population based control MSLTs (n=1019) summarized courtesy of E. Mignot vs. CFS (n=46) from Wichita, KS (Reeves WC, et al BMC Neurol (2006); 6:41).
  • Studies of non-sleepy controls indicate that nearly ¼ (22%) are asleep by 8 minutes, which demonstrates that MSLT based criteria of ≤ 8 minutes put forward by the International Classification of Sleep Disorders (ICSD) is poor at discriminating IH from controls (i.e., it is a “poor” test in lacking specificity).
  • 71% of IH with long sleep have MSLT > 8 min (i.e. considered to be normal), showing that MSLT based criteria also have poor sensitivity for rendering a diagnosis of IH (C Vernet and I Arnulf, Sleep (2009)).
  • A “cluster analysis” (i.e., unbiased probing for the degree of commonality ofsymptoms) by Sonka, Susta and Billiard suggests that IH and Narcolepsy Type 2 (NT-2) share more similarities than differences. (Narcolepsy with and without cataplexy, idiopathic Hypersomnia with and without long sleep time: a cluster analysis.  Sleep Medicine 16(2):225-31).
  • Dr. David Plante (U. Wisconsin) is continuing his work looking at hypersomnia in affective disorders (e.g., depression and bipolar disease). Sleep propensity in psychiatric hypersomnolence: a systematic review and meta-analysis of MSLT findings.  Sleep Medicine Reviews – in press (2016).
  • Dr. Plante has a five-year K23 training grant from the National Institutes of Health (NIH). Research
    • Aim #1: to probe for deficits in slow wave electroencephalogram (EEG) activity in depression with hypersomnolence as standard sleep variables demonstrate increased sleep duration with normal efficiency in major depressive disorder (MDD) with comorbid hypersomnolence.
    • Aim #2: increased EEG slowing during wakefulness. Global reductions in pre/post sleep waking theta frequency band in MDD without hypersomnolence (relative to controls and hypersomnolent group).
    • Aim #3: Investigate slow wave induction as a treatment strategy. Subject recruitment is planned for Fall 2016.
  • Dr. Plante has also been successful in getting a strategic research award from the American Sleep Medicine Foundation (ASMF) to test the usefulness of a multidimensional assessment in improving the evaluation and treatment of hypersomnolence. Questions he’ll be looking at with this research award:
  1. Do novel objective hypersomnolence measures incorporated into routine MSLT workflows capture aspects of hypersomnolence not quantified by current standards?
  2. Is the Hypersomnia Severity Index a valid subjective measure in patients referred for evaluation of suspected CNS disorders of hypersomnolence? This is a new index he’s developed.
  3. Do novel objective measures of sleepiness and the Hypersomnia Severity Index faithfully capture improvement with treatment?
  • Dr. Lynn Marie Trotti (Emory University) also has been awarded a K23 training grant from the NIH relevant to IH and hypersomnia.
    • Aim 1: Define functional neuroimaging signatures of pathological sleepiness of different etiologies (IH vs. Narcolepsy Type 1 during WAKE). She anticipates unique signatures by disease state diagnosis in FDG-PET regional hypo- metabolism. She hypothesizes that in the resting state functional magnetic resonance imaging (fMRI) will reveal increased connectivity within what has been termed the brain’s “default mode network” (DMN) whereas portions of this brain circuit will deactivate when subjects perform a simple cognitive task (N-back). Diffusion Tensor Imaging (DTI) – decreased fractional anisotropy will also be explored. Aim 2: Brain circuits underlying the symptoms of sleep drunkenness in IH will be explored with similar imaging modalities.
  • Dr. Andy Jenkins’ (Emory University Depts. of Anesthesia and Pharmacology) research continues to move forward. Midazolam and other drugs in the benzodiazepine class exert their sedative actions via gamma-amino-butyric acid (GABA) by binding between the alpha and gamma subunits of the GABA-A receptor. Dr Jenkins and his team are attempting to decipher precisely the presumptive somnogen that contributes to hypersomnia in many IH and NT2 patients that is acting on the GABA-A receptor. They are methodically exploring the % change in small, GABA-mediated current results after making single amino acid substitutions on the alpha2 subunit of the GABA-A receptor. So far they have successfully identified how small changes dramatically influence how well GABA does its job.
  • Is somnogen bioactivity specific to IH or might it be a biomarker for other origins of hypersomnia/hypersomnolence?  The large NIH R01 grant awarded to Emory University and Dr. Rye supports studying this by comparing IH & NT2 and their spinal fluids with clinical features and spinal fluids collected from sleepy and non-sleepy sleep apnea patients, and non-sleepy controls. They are also anticipating assessing Kleine-Levin-Syndrome (KLS) patients both when in and out of their episodes of hypersomnia.

In order to help discover/define the biological pathways in which the somnogen calls “home” as well as, ultimately, the very nature/structure/chemical identity of the somnogen itself, the Emory University sleep research team is collaborating with:

  1. Dr. Nicholas Seyfried – Assistant Professor in the Emory Dept. of Biochemistry is the lead investigator applying proteomic methods to spinal fluid samples.
  2. Dr. Art Edison – A University of Georgia (U) Georgia Research Alliance scholar is the lead investigator applying metabolomics methods to spinal fluid samples.
  3. Dr. Mark Bouzyk – Founder and Chief Scientific Officer of AKESOgen – is studying genetics
  4. Dr. Gary Bassell – Chairman of Emory’s Dept. of Cell Biology – is especially interested in studying myotonic dystrophy patients (in whom hypersomnia is a prominent symptom). RNA splicing abnormalities in myotonic dystrophy cause problems with proteins derived from RNA. The GABA 2γ receptor subunit in myotonic dystrophy because of this altered splicing yields a receptor more sensitive to the effects of the sedating benzodiazepine midazolam (see above).

Genetics/Molecular Biology– Daly DD and Yoss RE A family with narcolepsy (Mayo Clinic Proceedings (1959) 34:313-319). Dr Rye spoke about this during this conference as well as at the 2015 Hypersomnia Foundation Conference.   Four generations of this family were identified. Narcolepsy Type 1 is now known not to be as heritable as the sleepiness described in this family. Only 3 of 13 (16) of these family members exhibited cataplexy. So hypersomnia/hypersomnolence, not Narcolepsy Type 1, appears to be what’s being inherited in this family. Dr Rye also showed several smaller family trees collected at Emory, in which IH, Narcolepsy Type 2, and long sleepers cluster together in families.

Toward genetic research Dr. Rye/Emory has collected $187,500 in donation commitments to begin studies of the genetic components underlying IH and related disorders.  The overall goal is to raise $250,000 to fund these preliminary studies, and using this data to position themselves to apply for larger streams of NIH or foundation funding. They are in the process of collating samples and deciding how to best assign diagnoses given the diagnostic challenges alluded to above (e.g,  IH vs. Narcolepsy Type 2 vs. long sleepers).  The team is also discussing internally and with external collaborators what best first strategies to employ (Genome Wide Association Studies (GWAS) vs. whole exome sequencing [which would be feasible and possibly more fruitful with larger families inclusive of affected and unaffected individuals]).
Most comparable GWAS studies require  ~ 1000 samples. The Emory sleep program has 825 plasma samples, 783+ DNA samples, 473 CSF samples. Including DNA samples collected since November 2015 waiting cataloging into their larger biorepository.
Also, 11 patients with repeat CSF samples have been collected under different clinical conditions, which should be very useful for determining what features are unique to wellness vs. hypersomnia by way of proteomic and metabolomics comparisons.
Very recently skin biopsies h=are being collected to derive fibroblasts from which they are then able to morph into immature brain cells to study more intensively, and in a repeated manner.

Clinical Trials & Treatments:  Pentylenetetrazol (PTZ; aka BTD-001). This is an anti-GABA-A receptor study drug with mechanism action similar to that of clarithromycin.  It is being further developed/studied by Balance Therapeutics for the treatment of cognition and memory deficits in Down’s Syndrome as well as hypersomnia/hypersomnolence in IH and Narcolepsy Type 2.  Interestingly, PTZ is still available as one ingredient (viz., cardiazol) of a cough syrup available in Italy. This is the ongoing clinical trial with the acronym of ARISE. Www.arisestudies.com is the first industry sponsored clinical trial of any treatment seeking FDA approval for treatment of IH. This trial is testing the efficacy of Pentylenetetrazol (PTZ) in a rigorous, controlled, crossover, and blinded design.  ARISE is actively enrolling patients at > 20 centers including Emory University (see the website for participating centers). This drug has a long and substantial safety record (i.e,. Phase 1 requirement of safety in humans has already been established). A small, unblinded Phase IIa study – 5 subjects (3 IH and 2 Narcolepsy Type 2) each with hypersomnia responsive to clarithromycin and/or flumazenil demonstrated very promising results. So much so that the much larger Phase IIb study is moving forward necessitating recruitment of 120 subjects (60 each with IH and Narcolepsy Type 2).

Emory’s open label experience with flumazenil continues to be promising and publication of their “open-label” experience in an initial 153 treated patients is forthcoming. The paper was accepted June 27, 2016 publication in the Journal of Clinical Sleep Medicine. Beyond this experience which is limited to those patients seen and treated by Drs. Rye or Trotti prior to January 1, 2015, it is estimated that nearly 300 patients with hypersomnia resistant to traditional treatments with wake promoting drugs have been empirically treated with flumazenil through Emory’s outpatient sleep clinic alone.  Many additional physicians outside of Emory are increasingly prescribing flumazenil to their patients.

Much has transpired since the 1950’s when Dr. Bedrich Roth coined the term “idiopathic hypersomnia” and progress will continue as we work together and tease out understanding of the causes of idiopathic hypersomnia.

Posted in: BeyondSleepy, Conference, Education, Hypersomnia, Research, SomnusNooze

Leave a Comment (0) →

Idiopathic Hypersomnia – A Turtle Going Uphill Through Molasses in January

Share the Journey Stories

Words escape me. I am a reader, a writer, and a highly educated woman with multiple degrees. Eloquence is high on my list of valued traits. Communication is one of my strengths, and something I’ve always been commended for. And yet, words escape me. I stutter, I stumble, I am tongue-tied. It’s like trying to grab water in your fist.

That is part of what it feels like to have brain fog, a symptom of multiple chronic illnesses, including my idiopathic hypersomnia. You can’t find the words you are looking for, even everyday words. But I am not stupid. I do not have a low vocabulary. I have a Bachelor of Arts in English; communicating in a clear and concise manner was something I was trained to do. But words escape me. Not just once in a while. All the time.

Brain fog is just one aspect of IH. It isn’t even the biggest aspect, nor the most important. However, it matters because how can you convey what it is like to have constant all-consuming fatigue if words escape you?

I would say that my fatigue is a “maelstrom,” or a “torrent” within and surrounding me, but the connotations of such descriptions bring up thoughts of fast and wild disasters. Fatigue is much more subtle and slow. It is not the quick death of a bullet to the brain. Fatigue is more like walking through thick, high mud. Like swimming through honey. Like drowning in an ocean. Like being in a bog, surrounded by impenetrable fog. Like a turtle going uphill through molasses in January. It is all of these things simultaneously. It is wearing a lead straitjacket while trying to escape drying cement. It is slow, and it eats you alive from the inside. It is the thick, heavy, slow, drained, helpless, hopeless feeling.

Imagine dealing with all of that, day in and day out. Now experience all of that while trying to be a competent part of society. Subtract caffeine. Add heart palpitations and a minimum nightly requirement of eleven hours of sleep. The hardest part of your day is waking up. The second hardest is getting out of bed. The third is staying awake. An eternal struggle. Stay awake. Be productive. Accomplish your tasks.

Imagine doing all your normal tasks (and they have to be done well and in a timely manner) when you haven’t slept in three days. Now imagine doing that every day. Can you? I can. Because that is what I do every day, because idiopathic hypersomnia means that I need a minimum of eleven hours of sleep in order to feel like I haven’t slept in two or three days. I cannot remember what it is like to feel refreshed, rejuvenated, and awake. It’s been years. I would, without hesitation, amputate an arm or a leg if that was the cure. Think about that.

Take all of that and tell me that fatigue isn’t debilitating. I dare you.

But you know what? No matter how many people read this, there are still going to be those that think fatigue isn’t debilitating. But life keeps going. So, just like that turtle, I will keep going, even if it is always uphill through molasses in January.

Caitlin Swinford
Germantown, MD

Posted in: Awareness, BeyondSleepy, Hypersomnia, idiopathic hypersomna, Journey, Share the Journey Stories, Social Media, SomnusNooze

Leave a Comment (0) →

Sleep Disorders and Social Security– What You Need to Know

Social Security Disability Series: Part 2

Sleep Disorders and Social Security Disability – What You Need to Know

By Anjel Burgess, JD

Jennie has been fortunate enough to secure her short-term disability benefits. She has also hired an Attorney to assist her with the Social Security Disability application process. Although her family encouraged her to “file on her own instead of paying out of pocket to hire an attorney,” Jennie has learned throughSomnusNooze that Social Security Disability attorneys are not paid by a retainer, as many attorneys are. Rather, they work on a contingency basis, which means that Jennie does not have to pay out of pocket to get representation. For the attorney to get paid, two conditions must be met:

  1. The attorney must win Jennie’s case.
  2. Jennie must be entitled to past-due benefits (also known as back pay).

If both conditions are met, the Social Security Administration (SSA) will pay Jennie’s attorney 25% of Jennie’s back pay, up to a maximum of $6,000. Since obtaining the benefits is of the utmost importance to Jennie, she has decided that she can’t afford NOT to have an attorney. She has hired an attorney who will file an initial application for her and represent her through each step of the process.

Jennie’s attorney has explained to her that most people who receive Social Security Disability benefits have been through a three-step process and that it may take two years or more before she is approved (note that in some states, it is a 2-step process, as the Reconsideration step is eliminated). These steps include the following.

  1. Initial – Roughly 30% to 35% of applicants are approved at this level. Once SSA receives the initial application, they request medical records from Jennie’s providers. Once the SSA receives Jennie’s medical records, SSA will have its own physician or psychologist (or both a physician and psychologist) review the medical records to give their opinion as to what limitations they believe that Jennie has, as well as the impact of those limitations on her ability to work. This would also include a review of the opinion of Dr. Wonderful and any other of Jennie’s treating physicians. Oftentimes, SSA will decide that they need an outside opinion in making their decision. If this occurs, the SSA may require that Jennie be examined by an independent physician or psychologist (at SSA’s expense) who may not have an expertise in idiopathic hypersomnia. This independent professional then prepares a report that summarizes her or his observations and professional opinion. If the case is denied initially, Jennie can appeal.
  2.  Reconsideration – Roughly 7% to 10% of applicants are approved at this level. At the Reconsideration step, SSA obtains updated medical records and completes another internal review of Jennie’s file to see if any new evidence would result in a favorable outcome. It is possible that the SSA may send Jennie out for an independent examination at this stage as well. Again, if Jennie is denied, she can appeal.
  3. Hearing – Roughly 50% to 55% of the remaining applicants are approved at this level. This is the stage at which most people are awarded benefits, particularly after attending a hearing in front of an administrative law judge. The hearing is the opportunity for Jennie and her attorney to present the big picture to a judge. The big picture includes all medical records and testimony from Jennie herself. Jennie’s attorney will also have the opportunity to make oral and written arguments on Jennie’s behalf.

The common theme in each step of the process is medical records. Medical records are vital in a disability case because they can provide objective support for an individual’s complaints. For Jennie, her medical records tell the story of a very symptomatic individual who tried multiple medications but could only be productive for about 3 hours throughout the day. Her doctor ruled out many other conditions, and was able to confirm the diagnosis of idiopathic hypersomnia via a polysomnogram and Multiple Sleep Latency Test. Jennie’s medical records provide proof that she has idiopathic hypersomnia and authenticate her symptoms, which are reasonably due to idiopathic hypersomnia.

If you, too, are ready to file for Social Security Disability or have been denied at any step in the process, contact a qualified Social Security Disability Attorney to assist you with the process.

Anjel Burgess is a partner/attorney at the Law Firm of Burgess and Christensen located in Marietta, GA. She exclusively practices Social Security Disability Law for adults and children, as well as the ancillary areas of Guardianships and Special Needs Trusts. By doing so, she has been able to make a positive difference in the daily lives of people who need help the most. You may reach her at Anjel@DisabilityHelpLine.com or 770-422-8111. You can learn more about her services at www.DisabilityHelpLine.com

Have you joined the registry yet?
A patient registry is a collection that is established to collect standardized information about a group of patients who share a common condition or experience. In the case of the Hypersomnia Foundation Registry at CoRDS  (Coordination of Rare Diseases at Sanford), the people who participate have one of the central disorders of hypersomnolence: idiopathic hypersomnia, Kleine-Levin syndrome, or narcolepsy (type 1 or 2). Becoming part of the registry is easy and it could help solve the puzzle of hypersomnia! Simply go to http://www.sanfordresearch.org/cords/ and click on the ENROLL NOW button.

A patient registry is a collection that is established to collect standardized information about a group of patients who share a common condition or experience. In the case of the Hypersomnia Foundation Registry at CoRDS (Coordination of Rare Diseases at Sanford), the people who participate have one of the central disorders of hypersomnolence: idiopathic hypersomnia, Kleine-Levin syndrome, or narcolepsy (type 1 or 2). Becoming part of the registry is easy and it could help solve the puzzle of hypersomnia! Simply go to http://www.sanfordresearch.org/cords/ and click on the ENROLL NOW button.

 

Watch Beyond Sleepy in the Mile-High City

Denver6

Were you one of the more than 1250 people who joined us at Beyond Sleepy in the Mile-High City, the Hypersomnia Foundation’s Regional Conference, in person and online on June 12, 2016? If not, you can still watch the conference in its entirety by registering at http://www.hypersomniafoundation.org/2016-hypersomnia-regional-conference-register/. If you previously registered and missed any part of the program–or simply want to watch it again–please go to http://www.hypersomniafoundation.org/2016-hypersomnia-regional-conference-live/. The video will only be up for two more weeks!

 

Posted in: Action, Awareness, BeyondSleepy, Conference, CoRDS Registry, Education, Hypersomnia, idiopathic hypersomna, Kleine-Levin syndrome, narcolepsy, News, SomnusNooze, SSDI

Leave a Comment (0) →

Solving the Puzzle of Hypersomnia One Piece at a Time

The Hypersomnia Foundation Board of Directors is thrilled to announce the launch of the Hypersomnia Foundation’s Registry at CoRDS (Coordination of Rare Diseases at Sanford). Whether you have idiopathic hypersomnia, Kleine-Levin syndrome or narcolepsy type 1 or 2, please enroll in the Registry today to help solve the puzzle of hypersomnia. Your information will help researchers comprehend the journey that people with hypersomnia travel in their search for a diagnosis and will answer many other questions, including the symptoms that you experience, which may help to distinguish among these disorders, and the treatments that have and have not worked for your symptoms. Registration is simple (the second figure below describes the process). Simply go to http://www.sanfordresearch.org/cords/ and click on the ENROLL NOW button. Your answers to the Registry questions will help researchers design better diagnostic tools and more effective treatments and, eventually, find a cure. CoRDS personnel are available to help you, if needed, during the registration process. They can be reached at cords@sanfordhealth.org or 1 (877) 658-9192.

 

What is a Registry? A patient registry is a collection that is established to collect standardized information about a group of patients who share a common condition or experience. In the case of the Hypersomnia Foundation Registry at CoRDS, the people who participate have one of the central disorders of hypersomnolence: idiopathic hypersomnia, Kleine-Levin syndrome, or narcolepsy (type 1 or 2).

What is a Registry?
A patient registry is a collection that is established to collect standardized information about a group of patients who share a common condition or experience. In the case of the Hypersomnia Foundation Registry at CoRDS, the people who participate have one of the central disorders of hypersomnolence: idiopathic hypersomnia, Kleine-Levin syndrome, or narcolepsy (type 1 or 2).

cords process

CoRDS Registration Process

 

Posted in: Action, Awareness, BeyondSleepy, CoRDS Registry, Education, Hypersomnia, idiopathic hypersomna, Kleine-Levin syndrome, narcolepsy, SomnusNooze

Leave a Comment (0) →
Page 1 of 8 12345...»