Hypersomnia Foundation

Archive for 'Awareness'

A Soothing Balm: Healing a Painful Experience

I want to add a postscript to my Personal Journey story that appeared in the July 2017 edition of the HF’s SomnusNooze. Karen BergerIt relates to the traumatic experiences I had due to my idiopathic hypersomnia and being hospitalized. Because of the letter I wrote and sent to the hospital where I had surgery, a care process is being developed for people who are hospitalized with hypersomnia. Amazing! I still get tears of joy when I think of it.

I feel compelled to share with the hypersomnia community the follow-up letter that I sent to the administrative staff at the hospital. I especially want others diagnosed with hypersomnia to know that speaking up and sharing our stories can have a very powerful, positive impact. Our stories serve to help others understand our challenges living with the symptoms of hypersomnia.

Dear XXXXXX,

I want to share how grateful and thankful I am for your response to my letter about my hospital stay at XXXX last November. Receiving the phone call from you and the subsequent letter from XXXX has felt like a soothing balm has been poured over a very painful area of my life; this experience has been incredibly healing. I have shed many tears of joy recently.

Moving from being very confused about the trauma I felt, to finally understanding it, was very difficult work, especially because I was dealing with so many other medical issues as well my idiopathic hypersomnia. Sending the letter to the hospital was difficult as I felt extremely vulnerable; I had no idea of how the hospital would react. Therefore, having the additional closure of knowing the hospital understands what I experienced is absolutely amazing. I do not have adequate words to describe how this feels. Knowing that XXXX Hospital is actually formulating some sort of care plan for when people with hypersomnia arrive at the hospital is exactly what I hoped would happen; I am so thrilled that this is actually happening.

The hospital’s response is even more precious to me because I recognize that that hospital staff conducted a serious, in-depth examination of the issues involved. This response was not a knee-jerk reaction to my letter. I suspect that someone probably examined my hospital records to see if there was evidence noted about the issues I talked about. I know that you talked to all my doctors; I was able to talk to Dr. XXXX briefly about the situation, and she assured me that a care plan was going to be worked on.

I shared my story with the Hypersomnia Foundation (HF) as well. In doing so, I realized that I described an issue that is much larger and more important than my individual experience at XXXX Hospital. Many in the hypersomnia community have not thought about issues relating to hospitalization and IH. As a result of my story being shared in the HF’s SomnusNooze, I have been told that there are many doctors and sleep researchers who now have a higher level of awareness of this issue. I now very seriously doubt that ANY hospital, ever, has identified a care process for people with hypersomnia. I have, however, through social media, connected with people with hypersomnia who have their own stories to tell about hospital visits. Here is the link to my story as presented there. Please note there are 2 articles:

http://www.hypersomniafoundation.org/share-your-journey-hospital-surgery-and-hypersomnia/

http://www.hypersomniafoundation.org/a-letter-to-my-health-care-system-about-hypersomnia/

I believe that your hospital, by choosing to address issues faced by those diagnosed with hypersomnia who are hospitalized, has now become a national leader among hospitals in dealing with patients who have this diagnosis. And for that, again, I am very grateful.

I want you to know that I am very willing to be involved and helpful in whatever way I can in the future.

Thank you,
Karen Berger

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

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Idiopathic Hypersomnia Standard Characteristics

It’s often a struggle to describe to others – sometimes to doctors – the essence of idiopathic hypersomnia.

Now, the Hypersomnia Foundation presents Idiopathic Hypersomnia Standard Characteristics. This one-page document, reviewed and approved by our Medical Advisory Board, summarizes the common characteristics of IH. We hope it will be helpful to the IH community – to read and to share with friends, families, physicians, and others.

Find it here: Idiopathic Hypersomnia Standard Characteristics

Posted in: Awareness, Hypersomnia, idiopathic hypersomna, SomnusNooze

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Dear Abby Misses the Mark on IH

A “Dear Abby” advice column was recently forwarded to us by Noelle, a member of the hypersomnia community. In a letter to Abby, a mother in New Jersey asked what to do about her teenaged son’s complete inability to get himself up for school in the morning. She said he is a responsible boy in every other way, but she fears he won’t be able to get to class when he starts college this fall. Unfortunately, Abby’s advice reflects the widespread lack of awareness of sleep disorders. But we viewed it as a golden opportunity to educate “Abby,” the public, and we hope, the mother of that young man.

The Hypersomnia Foundation, working with Dr. David Rye of Emory University, co-wrote and submitted a reply which we hope will be published. We have not yet heard back from the writers of “Dear Abby,” but we’ve decided to share the story here, in hopes that you will share it, too. (We did manage to get our letter posted on the Abby Facebook page.) Below is a link to the original letter, followed by our response. (Warning: Many readers will find the original letter and the Abby reply upsetting. We certainly did.) Our thanks to Noelle for bringing this to our attention.

The original column:

http://www.pressdemocrat.com/lifestyle/6726470-181/dear-abby-mom-cant-get

Dear Abby: Mom can’t get teen to wake up on his own
JEANNE PHILLIPS
DEAR ABBY | March 11, 2017

Dear Abby: My son “Jake” is headed to college in the fall, and I want his last year at home to be memorable and happy. He’s a good student and has been admitted to the college of his choice. The problem is, he can’t wake himself up in the morning. He switches off the alarm and goes back to sleep. I must go up to his room several times to wake him because he won’t get up the first time.

Jake is otherwise independent. He does his own laundry and keeps his room spotless. I’m spending a large part of my savings on his tuition, and I’m worried that unless he can wake himself in the mornings, he won’t get to classes on time.

I have tried talking to him about putting the alarm on “snooze” instead of turning it off, but nothing works. My husband suggests we pour a glass of cold water on Jake’s face 10 minutes after the alarm goes off. Can you help us solve this problem?

— Up Already in New Jersey

Dear Up: Although you may think your husband’s suggestion is harsh and inappropriate, it’s time you stopped coddling your son. The two of you need to sit him down and tell him that college is expensive, that if you and your husband are willing to go through the financial hardship of paying for it, he must wake up by himself and if he cannot manage to do that, he will have to pay for his own education. Perhaps that will get across to him that you are serious.

Our reply to “Abby”:

March 22, 2017

Dear Abby,

As soon as we read your reply to “Up Already in New Jersey,” we were compelled to respond. A mother wrote to you about her teenaged son, a good student and responsible young man, concerned that his inability to awaken in the morning would prevent him coping with the demands of college. You scolded her for coddling him, and didn’t disagree with her husband’s suggestion that she consider throwing cold water in her son’s face.

Abby, difficulty waking up may be a signal of serious medical conditions (e.g., low thyroid hormone levels, iron deficiency with or without anemia, and others). It may also be a symptom of certain poorly recognized primary sleep disorders. While adolescents have a natural propensity towards being “night owls,” long and unrefreshing sleep can be an indication of a more serious neurological disorder such as idiopathic hypersomnia or narcolepsy. The inability to awaken to a standard alarm is, for instance, one of the hallmark symptoms of idiopathic hypersomnia. Affected individuals will often resort to ‘sonic-boom’ alarms and other extraordinary means to awaken. Other symptoms may include disorientation after awakening, grogginess, ‘brain fog’ and an inability to remain alert during the day. That concerned mother would be well advised to seek the opinion of a board certified sleep medicine physician.

In a society where feeling tired is increasingly expected, and accepted, people with sleep disorders are often mistaken as unmotivated or lazy. It is truly heartbreaking how many people with a sleep disorder suffer for years before getting a proper diagnosis. If this mom’s teen has a medical or (un)recognized sleep disorder, throwing cold water in his face will not help. New Jersey mom’s son will need his parents’ guidance to sort out how to best evaluate and manage a condition that might affect his schooling, his work, and his relationships. New Jersey mom may also want to view online – free of charge – a discussion panel led by two students who have successfully navigated college with their diagnoses of idiopathic hypersomnia. It’s scheduled as a live webcast on June 4th, as part of the Hypersomnia Foundation’s conference in Boston, MA – anyone can go to www.hypersomniafoundation.org to register.

Sincerely,

Diane Powell, LCSW
CEO / Board Chair
The Hypersomnia Foundation

David B. Rye M.D., Ph.D.
Professor of Neurology, Emory University School of Medicine
Chair, Scientific Advisory Board Hypersomnia Foundation

Posted in: Awareness, Press Coverage

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HF Board Member featured as guest on Top Docs Radio!

Hypersomnia Foundation’s Catherine Page-Rye will be live on Top Docs Radio, Tuesday April 18 at noon EDT.

Cat aims to promote awareness and better understanding of idiopathic hypersomnia (IH) as a rarely diagnosed, often misunderstood, serious neurological sleep disorder. She will discuss various topics with the moderator including:

• Distinguishing between the terms idiopathic hypersomnia (IH) and hypersomnia
• Classifications of hypersomnia
• Symptoms of IH
• Diagnosis and treatments of IH
• Hypersomnia Foundation programs for awareness, education and research aligning with
their slogan “Let’s get #BeyondSleepy.”

Plan to tune in via the internet using the following link and on the top right click ”listen” (do not click “select a studio”):

http://topdocs.businessradiox.com/

The show will also be archived and accessible via the above link thereafter.

Posted in: Awareness, HF Press Release

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Rare Disease Day: Research Brings Hope – My CoRDS Experience

Research Brings Hope – My CoRDS Experience

On February 28, 2017, the Hypersomnia Foundation (HF) joins with all those participating in Rare Disease Day supporting the slogan, “Research Brings Hope to People Living with a Rare Disease.”

On Rare Disease Day, through social media and our SomnusNooze newsletter, the HF once again encourages the entire hypersomnia community, including anyone with a central disorder of hypersomnolence (idiopathic hypersomnia, narcolepsy type 1, narcolepsy type 2, and Kleine-Levin syndrome), to help us get #BeyondSleepy by registering and completing the CoRDS registries. This is also a perfect opportunity for those who have already completed the registry to consider reviewing and updating their information if needed.

“When the CoRDS Hypersomnia Foundation patient registry debuted last year, I was incredibly excited about the opportunity to personally contribute to primary hypersomnia research. As a person with Idiopathic Hypersomnia, my energy, especially my cognitive energy, is extremely limited. This can make tasks like filling out a registry database quite difficult. However, it’s exactly the severity of my symptoms and the lack of effective treatments for and knowledge about the primary hypersomnias that make this registry so necessary.

Thankfully, the registry is set up so that you can easily complete it in small pieces, taking breaks whenever you need. You can even skip questions and come back to them later (just make sure you note the question number). Check out more helpful tips and FAQ at http://www.hypersomniafoundation.org/registry/.

I strongly encourage every single person with Narcolepsy, KLS, and Idiopathic Hypersomnia to push through their brain fog/sleepiness/exhaustion and prioritize contributing to this critically important database. Together we can dramatically increase knowledge of and treatment options for these devastating illnesses.”

Michelle E.

CoRDS is a centralized international patient registry for all rare diseases and has partnered with the NIH’s GRDR (Global Rare Disease Registry) program: https://ncats.nih.gov/grdr/partners.

For researchers to make advances in understanding and treatment of hypersomnia disorders, they need data. By completing the registry questionnaire, you are making a very valuable contribution to this cause. Learn more about the registry and how to sign up here:
http://www.hypersomniafoundation.org/registry/

People who have completed the registry also have this to say about their experience:

“In preparation for completing the Hypersomnia registry survey with CoRDS, I gathered as many of my medical history documents as possible. I reviewed these documents thoroughly, so that I knew what information I had and where it could be found before beginning the survey. I found this to be incredibly helpful. The survey is a bit lengthy, so being organized and understanding my personal data beforehand allowed me to complete the questions without becoming overwhelmed. Participating in this registry is an easy and effective way for all of us to contribute valuable information for the advancement of research on Hypersomnia.”
Amy H.

“I signed up with CoRDS and did the hypersomnia registry because I knew it was important to get my information out there for the doctors and researchers who are working on finding a treatment for this horrible disease. It only took a few minutes to register, but the survey itself took quite a bit of concentration that is difficult for someone with IH. I filled it out in little bits and whenever I felt I had enough energy I would go back to fill out a few more questions. I hope that my info will help in some way. If it does, then the time and energy was worth it!”
Dustin H.

If you have any questions, difficulties, or concerns while completing the CoRDS registries, please feel free to contact them at cords@sanfordhealth.org or call 877-658-9192.

If you have completed the CoRDS registries and want to share your experiences and advice with others, you can send them to us at: http://www.hypersomniafoundation.org/understanding-hypersomnia/share-your-journey/.

Posted in: Awareness, CoRDS Registry, Research

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The Blight on My Daughter’s Life

I gave birth to my daughter at 7:28 pm after 33 hours of labor. I was worn out, so I relinquished my baby to the care of the nurses within a couple hours to get some sleep. I didn’t see Cait again till 6:00 am. And, for the first year and a half of her life, if I put her down at 7:00 pm I knew I wouldn’t hear from her again till 8:00 the next morning. In retrospect, I wonder if it was an omen of what was to come.

Cait settled into normal sleep-wake patterns as a toddler. Toward the end of grade school, though, I remember that, if I took us out to dinner, she would invariably complain of being tired. I kept having to tell her not to lay her head on the table in restaurants.HPIM0292.JPG

Through her adolescence, I learned the hard way that it was best not to say anything to her early in the morning. “Not a morning person” was the understatement of the decade.

Cait completed her first bachelor’s degree on schedule and stayed on to get another BA and earn a teacher’s certificate, having settled on a career path late. It was during that program that the wheels came off. She lost motivation. Her sunny disposition disappeared. She earned the BA but couldn’t complete the certificate. After about 5 months living with a friend and making no headway with a job hunt, she moved in with her step-dad and me.

She landed a job. I thought she’d gotten her feet under her. But then she just tanked—spent all her time in bed except for when she had to work. It looked like depression to me. She found a counselor. Eventually she agreed to take antidepressants. Her mood lifted, but the fatigue didn’t go away. Her doctor checked her B-12 and her thyroid and screened for Lyme disease. She was sent for a sleep study and diagnosed with mild sleep apnea. She invested in a CPAP machine and used it faithfully. It didn’t help. She kept going back to the sleep study site asking why, and they would ask, “Do you meditate? Do you exercise? How much protein are you eating?”

Five months later, she thought she might have had a mini seizure. She was referred to a neurologist who happened to be a sleep specialist. The pre-appointment questionnaire drilled down on questions about sleep, and Cait answered them fervently. On her first visit, this doctor quickly resolved the question she came with and then said, “But I think you have another problem and it isn’t sleep apnea.” It was another month before a sleep study with MSLT confirmed it, but, when we did the Internet search that night, we knew he was right. Idiopathic Hypersomnia.

I hate this blight on my daughter’s life. I’m her alarm clock. I pack her lunch daily and make sure she has a good dinner every night. She doesn’t have energy for anything except her job. What kind of life is this? She’s planning now to move back to Illinois where she has a cadre of friends and a beloved church community within a 15-minute drive radius. I want her to have a life of her own, but I wonder, “Can she pull this off? Will she have the support she needs?” How I hate this blight on my daughter’s life!!

Ellen Swinford

Germantown, MD

Posted in: Awareness, idiopathic hypersomna, Journey, Share the Journey Stories

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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

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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

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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

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Act Today and Let Your Voice Be Heard

Very recently, the Hypersomnia Foundation became aware of an opportunity to help shape the future of sleep research. The National Institutes of Health, the primary source of funding for medical research in the United States, has issued a Request for Information, which you can view at: https://grants.nih.gov/grants/guide/notice-files/NOT-HL-16-312.html.

The final date to submit your comments has been extended to today, May 16, 2016.Screen Shot 2016-05-16 at 12.41.44 PM

Last week, we sent an email to everyone in our database to encourage you to make your voices heard. We are urging you again to act today. Please share your hypersomnia story with the people who determine medical research priorities and allocate funds.

  • Tell them why the currently available diagnostic tools and lack of awareness about hypersomnia led to a lengthy delay in your diagnosis.
  • Tell them why research into the cause of and effective treatments for hypersomnia are so desperately needed.
  • Tell them why we need a cure as soon as possible because hypersomnia is limiting your ability to achieve your dreams, complete your education, or even provide financially for your family.

Please join your voice with ours as we fight to secure the place of hypersomnia at the top of the nation’s sleep research agenda. The Hypersomnia Foundation Board of Directors has submitted the following response, and we encourage you to send your comments and suggestions to the NIH, as you deem appropriate, at rfi-sleepplan2016@collaboration.nhlbi.nih.gov.


 

Hypersomnia Foundation Response
to the National Institutes of Health’s Request for Information:

For nearly a century, the study of sleep and its function(s) in health and disease has been principally focused within approaches that center on not enough sleep. Although excessive daytime sleepiness (EDS), cognitive dissonance, and other symptoms not surprisingly result from sleep deprivation, central disorders of hypersomnolence (CDH; e.g., idiopathic hypersomnia, Kleine-Levin syndrome,
narcolepsy type 1 [NT1], and narcolepsy type 2 [NT2]) in humans (in which EDS is often accompanied by extremes of sleep length) emerge spontaneously. Studying patients with CDH has already proven to be fertile ground for investigation, as evidenced by the discovery that loss of brain hypocretin causes narcolepsy with
cataplexy (i.e., NT1). Yet, for the other CDH, there remains a large unmet clinical need, with further research and development prime for discovery and the potential for extraordinary translational opportunities.

Symptoms of CDH can be disabling, and because, for example in NT1, they also begin in adolescence or young adulthood, are chronic, sometimes progressive, go undiagnosed or misdiagnosed for decades, and respond variably to medications.
Despite advances around NT1, the knowledge gained has not translated smoothly to
the clinical realm. Diagnoses of CDH inclusive of NT1 since 1975 have relied upon a
forty-year-old test (viz., the Multiple Sleep Latency Test [MSLT]) that is cost, time,
and labor intensive and that was born of practical necessity and subsequently
tweaked to specifically identify NT1. In 2006, two preeminent sleep researchers concluded that the MSLT yields “a large number of false-positives” and that an increased daytime propensity to REM-sleep—traditionally accepted to be the sole domain of NT1—does “not appear to have any specific pathognomonic significance.” Yet, in 2016, the MSLT remains the gold standard that drives diagnoses and all that it implies. For clinician scientists, this means, for example, how clinical trials are designed and studies of heritability are conducted. Even more so, for patients, this has enormous implications for prognosis, treatment choice, access to medication(s), and accommodations/disability status.

There are currently no FDA-approved treatments for the CDH—medication choice being limited to those for narcolepsy. Since the 1930s, conventional
psychostimulants such as ephedrine have been used to treat NT1. The majority of the current pharmacological armamentarium and drug development are similarly designed and focused upon promoting wakefulness by enhancing brain monoamines. Drugs more directly designed to replace hypocretin continue in development 16 years after the discovery of hypocretin. An alternative construct in approaching the biology and treatment of CDH has recently been proposed that appears to hold great promise for many patients. People with CDH without NT1 (i.e., hypocretin being intact) do not appear to suffer from any “loss of function” per se but, rather, a gain of function in sleep-promoting brain circuits. Thus, pharmacologic agents that antagonize the sleep-promoting and consciousness-dampening neurotransmitter gammaaminobutyric acid (GABA), such as flumazenil, clarithromycin, and pentylenetetrazol, have either been demonstrated to be effective or are in clinical trials for CDH patients in whom traditional wake-promoting agents have not been helpful.

We advocate for initiatives to fund discovery research that translates to improve the human condition of people with CDH in whom sleep is prolonged and ostensibly persists into “wake.” Enhanced recognition and improved treatments call for greater understanding of not only the clinical spectrum of CDH and the natural history of these disorders, but also mechanistic understanding of their biological underpinnings. Diagnostic tools that are highly discriminative and designed to capture more than just EDS and an increased daytime propensity to REM sleep are an absolute necessity. CDH remain diagnoses of exclusion such that greater understanding of potential mimics—which themselves would enhance mechanistic understanding of sleep—and biomarker discovery are also high priorities. As there are numerous stakeholders in such endeavors, as evidenced in the summary provided above, the absolute need to encourage greater dialogue and collaboration among patients, patient advocacy groups, professional organizations representing sleep physicians, funding agencies, and industry cannot be understated. With increasing dissemination of knowledge through many means, not the least of which includes social media, patient consumers with CDH-like symptoms have become increasingly knowledgeable. They are acutely aware that CDH outside the realm of NT1 is not well served by current medical knowledge or practice in this realm. Accepting the status quo risks alienating the public and medical consumer.

We would, therefore, propose including a sleep neurobiologist on the NHLBI Sleep
Disorders Research Advisory Board and developing mechanisms for solicitation of
program projects and set-aside funds specifically to research hypersomnia, with requests for proposals to prioritize filling unmet clinical needs in the following areas:

R37 Javits Neuroscience Investigator Award
NIH EUREKA grants
R13 funding to support conferences
T32 grants for postdoctoral study
RFAs and more specifically RFPs
SBRI funding for better diagnostic tools

Because the breadth of scientific inquiry or line of investigation needs incredible resources and sustainability, we would advocate for funding initiatives with set-aside monies at all levels of training, including predoctoral, doctoral, postdoctoral, junior investigator, and senior investigators, and we envision promoting set-aside monies for all the Career Development K Awards for investigators with projects relevant to CDH.


 

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Learn about the latest hypersomnia research on June 12th at the Hypersomnia Foundation’s regional conference, Beyond Sleepy in the Mile High City. Scientists will share findings from their recently completed clinical trials and other ongoing studies, lead us on a journey through the drug discovery and approval process, and help us to cope with the daily struggles of hypersomnia. You will also learn how your future participation in the registry can help to solve the puzzle of hypersomnia.

Tickets are running out so order your $25 ticket online to join us in person in Denver or wait until June 1 to sign up for a live Internet stream of the conference, brought to you free of charge through the generous support of Balance Therapeutics, Inc., and Flamel Technologies, SA.

 

 

 

Posted in: Action, Awareness, Education, Hypersomnia, idiopathic hypersomna, Kleine-Levin syndrome, narcolepsy, News, Research, SomnusNooze

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