Hypersomnia Foundation

Posts Tagged 'rare disease'

Celebrate with the Hypersomnia Foundation

Celebrate with HF: Three Years of Awareness, Education, and Research

A message from the new CEO/Chair:

The Hypersomnia Foundation had a great year in 2016! As I look over the list of the year’s accomplishments, I am keenly aware of the tireless dedication and hours of work from the very beginning of HF, that made all this possible: from the founding three years ago through the recent leadership of Cate Murray into a growing non-profit able to achieve so much.

As I begin my term of leadership service, I feel fortunate not only to be working with an incredible Board of Directors, but to have the support of our prestigious Medical and Scientific Advisory Boards.

We also have an important resource in our Advisory and Advocacy Council (known as PAAC): volunteers who have become and will continue to be an important resource for HF’s outreach.

Finally, we are all grateful to our donors who make our work possible, and to the hypersomnia community, for your inspiration. I look forward to working with all of you as we continue on our mission to get #BeyondSleepy!

-Diane Powell

 

The Hypersomnia Foundation, Inc. (HF) is committed to increasing awareness and education about, and research for better understanding of idiopathic hypersomnia and related disorders. Together with the hypersomnia community we celebrate our third year organized as a public 501c3 charity! As an all-volunteer organization, we are proud of our accomplishments for the hypersomnia community in 2016:

  • February 29- HF participated in Rare Disease Day by publishing “A United Effort to Fuel Research on Hypersomnia” in SomnusNooze we updated milestones of the hypersomnia registry, and creating a graphic to share through social media as we prepared to launch mid-year.
  • March 6-11- National Sleep Awareness Week – We reached out to our SomnusNooze audience asking for statements about coping with hypersomnia, and received many poignant and powerful responses. The #BeyondSleepy tag-line was created and images developed to capture as FB/Twitter/LinkedIn profile pictures for sharing and spreading awareness about hypersomnia.
  • May 16–The HF responded to the NIH’s call for input as it was preparing to set its new research agenda for sleep.
  • June 10- A story about idiopathic hypersomnia was on the first page, top of the fold of the Denver Post, as we prepared to host our regional meeting in Denver. We also reached out to new and existing Health Care Providers; distributing 2,000 postcards giving information about hypersomnia, HF, and our regional meeting.
  • June 12- The HF Denver meeting far exceeded our expectations. From the quality of the speakers and their presentations to the number of attendees, and the ability to offer Livestream of the conference due to two generous grants the conference was a huge success.  Over 1500 people viewed the HF meeting via Livestream with slightly more than 70% watching from the US; the rest of the viewers were in 11 other countries, including Australia, Norway, France, the UK.
  • Also on June 12- After two years of seemingly endless revisions and input from researchers, physicians, CoRDS staff, and people with diagnosed with central disorders of hypersomnolence, the Hypersomnia Foundation Registry at CoRDS was launched. This registry, housed through CoRDS (Coordination of Rare Diseases at Sanford), will form the backbone of many future research projects to be conducted by scientists from throughout the world.  The registry will garner new insights into the disease processes and help scientists better understand differences between the various hypersomnia disorders. As of this past December, 447 people have completed the CoRDS registry; a boon to future research! Go to http://www.hypersomniafoundation.org/registry/
  • June 13-14- Three HF board members, at their own personal expense, attended the annual Associated Professional Sleep Societies (APSS) meeting in Denver to learn about the latest sleep research and clinical practices relating to hypersomnia. Numerous scientific talks and poster sessions were attended, and Board Members met young investigators interested in the study of hypersomnia.

And since June:

  • We have developed plans for a SomnusNooze feature called Ask the Doctor.  Members of our Medical Advisory Board (MAB) have graciously offered to answer general questions about idiopathic hypersomnia, as well as the other central disorders of hypersomnolence that include narcolepsy type 1 and 2 and Kleine-Levin syndrome.
  • We continue to grow our MAB – After our Denver conference we had two new physicians give a resounding “yes” to join Dr. Jason Ong and Dr. Michel Lecendreux. That brings the HF MAB to a total of eight medical healthcare professionals working in the field of hypersomnia.
  • The Hypersomnia Foundation was the recipient of a grant from the Trip Advisor Charitable Foundation to increase awareness of hypersomnia! We are most appreciative of these funds to update our website and enhance our social media presence.
  • The Hypersomnia Foundation has sought the input of a broad swath of the hypersomnia community in various ways, most notably through the launch of the PAAC: People with Hypersomnia and Advocates Advisory Council.  The PAAC was developed as a means to boost communication, gather input, and share ideas with those in the hypersomnia community. The group meets via phone once a month.

And finally…

  • The HF Scientific Advisory Board (SAB) is growing and 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. We have been building a research fund since our incorporation and continue to fundraise toward this effort.
  • SomnusNooze, our free electronic newsletter, continues — written and edited by volunteers, with all clinical/scientific information vetted by a member of the Medical Advisory Board (MAB). Delivered to over 1,445 inboxes, up 25% since the first of the year, on topics including clinical trial opportunity, summaries of scientific articles, drug and treatment updates, personal Journey Stories, coping tips, new doctor details, information on disability issues, use of service animals, and research opportunities. “Ask the Doctor” feature coming soon. Subscribe here: http://www.hypersomniafoundation.org/hypersomnia-news/somnusnooze/

As we prepare for 2017 we are excited for new opportunities to raise awareness, education and research about idiopathic hypersomnia and related disorders. We appreciate the support, feedback and great ideas from the entire hypersomnia community!

Posted in: SomnusNooze

Leave a Comment (0) →

Communicating With Your New Doctor About Your (or Your Child’s) Rare Disorder

Note: In this article, the word “you” will be used to mean both you and your child.

You will need different kinds of doctors to help you with your rare disease. Specialists will know the most about your disease and which specific treatments are best. Many times, several specialists will be needed to help with specific parts of your disease. Doctors who treat people with rare diseases often know other specialists around the country or world and can help you find someone near your new home who is specialist in your disease. However, they are not usually the doctors who will help manage all the various parts of your care.

When you move, one of the most important new people will be your primary care doctor. This doctor will form your medical home, a compassionate, accessible, cooperative, family-centered place where you can develop a relationship and get help to coordinate your care. Most often, it will be up to the individual to find a new primary care doctor. How can you find a primary care doctor to help care for you when you have a rare disease?

It is important to know what you should consider when looking for a new primary care doctor. A good medical home works best when the doctor, their staff and you, the patient, form a team. You should feel comfortable with the doctor; be able to ask questions; have a sense the person is willing to work with you and your specialist(s), is willing to manage complex issues and coordinate care, and is open to learning about you and your rare disease. You also must be willing to be part of the team and communicate clearly and honestly with your new primary care doctor about your condition. Mutual respect will be key to building a successful relationship with your new primary care doctor. It may take several visits before you feel comfortable and develop a relationship. Sometimes you may need to see more than one primary care doctor until you find one that is best for you.

Someone with a rare disease may be a challenge for the primary care doctor. They may never have seen a person with your specific disease. You can help by providing some information about not only yourself, but also your disease. This may be a review article or reference about your disease or a website dedicated to your disease. Keep in mind that most primary care physicians have busy clinic days and are limited in the amount of time they are able to devote to each patient. It may be unrealistic to expect the primary care doctor will ever achieve the degree of in-depth knowledge about a rare disorder and the most recent research on it that you will have. The goal is not for your primary care doctor to become an expert on your specific disease (that is why you have a specialist), but to understand the problems related to the disease and be able to coordinate care with your specialist(s).

Prior to your first appointment, make copies of important documents to take with you. Consider making a binder or electronic file of important information and your own summary. Ask your previous specialist for a summary letter describing your disease, your specific problems, and your current treatments. This is very valuable for the busy primary care doctor who may not have the time to go through extensive records. These will be helpful not only for your new primary care doctor, but also any new specialists you see. You should also get a copy of your medical records from your specialists, hospitals where you were admitted, and your previous primary care doctor. A few key records you should get are the following:

  1. A copy of the specialist note when you first received your diagnosis, and the note from the most recent visit with your specialist.
  2. Copies of any tests that helped make the diagnosis—blood tests or tests on other body fluids (urine, spinal fluid, tissues remove for biopsies or operations), imaging (regular x-rays, CT scans, MRI scans, echocardiography, etc.), special diagnostic tests (lung function, sleep studies, psychological tests, etc.). If you have the actual image tests on a disc, that would be very helpful. You have rights to all your records (paper and images on disc) from all of your providers (including any hospital). Many providers do charge for copies. It is particularly helpful to get these before you move, as sometimes they can be hard to obtain later.
  3. If you have had tests after your diagnosis as a regular follow up of your disease, you should get copies of those as well.
  4. If you have had an operation or been admitted to the hospital, a copy of the Discharge Summary is essential. If possible, the Operative Notes for your surgeries are also useful.
  5. For children, a copy of the growth chart or a list of the weight, length, and head circumference over time.
  6. For children and adults, the immunization record.
  7. A list of current medications and the dose, any previous medications that were discontinued because they were not effective or caused side effects, and any allergies. Include experimental treatments, vitamins, supplements, herbal therapies, physical/occupational therapy, chiropractor—essentially anything you use to make your disease better.

The primary care doctor may not need to see all of these. You can refer to them during visits as needed.
Remember that your medical home with your new primary care doctor will be key to coordinating all other aspects of your health care. It may take time to find the right physician and home and to build an open and honest relationship. However, a good medical home, with you as the focus of the team, will help coordinate services and provide comprehensive care and ensure that you stay healthy.

Bonita Fung, MD, and Kim McBride, MD, Bexley, OH

Posted in: Journey, Share the Journey Stories, SomnusNooze

Leave a Comment (0) →