Hypersomnia Foundation

Meet the Doctor, Doctor Lecendreux

Meet Michel Lecendreux, MD, child psychiatrist, University Hospital, Robert-Debré, Paris, France, and newest member of the Hypersomnia Foundation’s Medical Advisory Board.

For those of you who watched the Livestream or attended the Denver Regional Conference in person, you may remember Dr. Lecendreux. He gave a fascinating presentation on what hypersomnia looks like in children and adolescents and told us that hypersomnia is often unrecognized and undiagnosed. He also shared some of his research findings, which indicate that many of these children and adolescents have emotional difficulties, have behavioral or cognitive problems (attention deficit hyperactivity disorder–ADHD–symptoms), have decreased academic performance, become loners, and avoid athletic activities.

Dr. Lecendreux is involved in pediatric sleep research, and he also cares for children and adolescents in the clinic. He is the head of the Pediatric Sleep Centre at Hospital Robert-Debré in Paris. His main fields of interests are sleep, alertness, narcolepsy, and ADHD.

Dr. Lecendreux is one of the directors of the French Reference Center for Pediatric Narcolepsy, Idiopathic Hypersomnias and Kleine-Levin Syndrome in the Department of Neurophysiology and is a member of numerous international sleep societies.

Dr. Lecendreux has written many journal articles, editorials, chapters and books in the area of pediatric narcolepsy, ADHD and sleep and is an editorial board member for the Journal of Attention Disorders. Together with his colleagues, he reported on the role of vigilance impairment in children ADHD and insisted on the role of iron deficiency in the pathophysiology of ADHD. Dr. Lecendreux is also involved in numerous activities, including teaching medicine and education and research on attention disorders at the Faculty of Medicine of Paris.

So now that you know all about Dr. Lecendreux, don’t forget to write into our Ask the Doctor column and ask him questions pertaining to children or adolescents and hypersomnia.

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SPECIAL SOMNUSNOOZE ALERT!!

URGENT: Let’s Get #BeyondSleepy campaign matching donations for the next 24 hours to raise funds now for research and awareness of hypersomnia.

For the next 24 hours all donations to our giving season campaign will be matched, up to $5000!

The Pillows and PJ’s challenge has taken off, and we are more than halfway toward our goal of raising $20,000 by December 31st!

Supporters from as far away at the Netherlands and New Zealand have donated and contributed photos, then challenged friends and family to do the same. Check out our Facebook page to see the gallery of fun and creative photos, like these of Board Members Cat Rye and Diane Powell:

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DON’T WAIT, PLEASE DONATE NOW WHILE WE HAVE AN OFFER TO MATCH YOUR GIVING (you don’t need to take a PJ photo to donate!). DONATIONS can be made here: http://www.hypersomniafoundation.org/2016givingseason/

To see all the PJ photos, check us out here: https://www.facebook.com/Hypersomniafoundation/
Thank you, as always, for your wonderful support of the Hypersomnia Foundation and our campaign to get #BeyondSleepy! Campaign continues through December 31st.

Posted in: Awareness, BeyondSleepy, Research

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Livin’ the Dream

Livin’ the Dream

Or maybe dream living? I’ve never been a morning person. Mom would drop me off at the door by my first hour seconds before the bell rang. Neighbors that I carpooled with to grade school called me Molasses. My birth certificate says Melissa. Everyone knows I will be late to EVERYTHING.

I stay up all night cleaning because that’s when energy strikes and the fog lifts. Conversely, if I choose instead to go to bed I’ll fall asleep immediately. Mornings, and just the thought of them, terrify me. No amount of sleep, hours or days, refreshes me. I used to get up at the same time dreamwith no alarm. Now, if I hear it, it’s like a dream fragment that I’m never sure actually happened. My dad calls me every morning to help wake me up. These conversations have the same wispy, unreal quality.

The physical act of leaving the bed while my brain is wrapped in rolls of bubble wrap is the single most difficult task I have ever faced. And I’ve had 3 hip replacements and had my first surgery at 18 months old. In fact the state of my brain when trying to wake reminds me of the last second before anesthesia steals you or the first moments it lets you go. Once I leave the bed, conversation is not an option. The words may float around in my head but they ain’t coming out. So I do the hair and makeup thing, and I’ve realized that the act of making myself look awake helps me feel normal. Not less sleepy, just human.

I would give just about anything to wake up refreshed again. To look forward to going places and seeing people. My house used to look like Halloween or Christmas threw up in here. I can’t make myself just switch out summer candles for fall. Got meat in the freezer from March – July. Yeah I know, yikes! I haven’t cooked my family a real meal in months. And I have no appetite either. Anyone else have that?

So I float thru every day in this dreamlike fog, forgetting the thought I had a second ago, practically begging doctors to find something horrible wrong with me, desperately wanting sleep and hating it with a passion, as well as a body that seems to have turned on me, trying stimulants and wake-up meds, feeling like a loser for getting to the office at 11:30, forgetting to pay bills, not going to the grocery store, being too tired to give my cat her medicine, being overrun by laundry, telling my sister no I can’t take you to urgent care, throwing my hair up in a ponytail because I’m too tired to wash it, being suspicious of “good” days and cramming a million things into them because tomorrow is an unknown bitch that more than likely will kick my ass again.

 

Melissa Morrow

Oak Grove, MO

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The Hypersomnia Foundation Joins the #GivingTuesday Movement with #beyondsleepy campaign

The Hypersomnia Foundation Joins the #GivingTuesday Movement with #beyondsleepy campaign

Press Release November 29, 2016 – Today The Hypersomnia Foundation, Inc., the leading hypersomnia advocacy and awareness non-profit, joins #GivingTuesday, a global day of giving that harnesses the collective power of individuals, communities and organizations to encourage philanthropy and to celebrate generosity worldwide. The Hypersomnia Foundation is joining the #GivingTuesday movement to raise awareness and monies for research that will be restricted to study Idiopathic Hypersomnia (IH), a rare, chronic neurological disorder that causes an insatiable need to sleep that is not eased by a full night’s slumber, as part of the Let’s get #beyondsleepy campaign.

In a society where feeling tired is the norm, it can be difficult to comprehend the devastating impact of the disorder, which causes sleep inertia (extreme difficulty making the transition from sleep to waking), and mental fogginess even during the few hours a day people with IH can remain awake. Many with the disorder sleep up to 11 hours out of 24. The relentless nature of the disorder makes it extremely challenging for people with IH to hold down jobs, remain in school, maintain marriages and fully engage with their family and friends. Hence this year’s call to action: Let’s Get #beyondsleepy

“We are pleased to offer this opportunity to our supporters so that they can help in the quest to understand IH more fully,” said Cate Murray, CEO of the Hypersomnia Foundation. “We understand the struggle that individuals and their families are going through living with this little-known and devastating disorder and how crucial future research is to them.”

Why raise awareness of and restricted funds for research for Idiopathic Hypersomnia (IH)?  

  1. We don’t know how many people have Idiopathic Hypersomnia (IH) which is vital for scientists to apply for grants and encourage pharmaceutical companies to study IH. The first step towards having this number is building awareness of the disorder. 
  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 – making further research imperatives.
  3. The tests that we do have are often inaccurate and repeating them is very expensive. 
  4. There is no FDA approved treatment. While wakefulness-promoting medications are sometimes prescribed, ”off-label”, these medications don’t work well for everyone and they may also stop working overtime and/or have bothersome side effects.

Get involved and learn more at http://www.hypersomniafoundation.org/2016givingseason/  Share Let’s Get #beyondsleepy on Social Media on #GivingTuesday, November 29, 2016 and throughout the giving season.

About Hypersomnia Foundation 

The Hypersomnia Foundation, Inc. strives 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, a cure for these debilitating conditions.

To find out more about IH and related disorders, please visit http://www.hypersomniafoundation.org/or follow us on Twitter at or on Facebook.

About #GivingTuesday 

#GivingTuesday is a movement to celebrate and provide incentives to give—the 2016 iteration will be held on November 29, 2016. This effort harnesses the collective power of a unique blend of partners—nonprofits, businesses and corporations, as well as families and individuals—to transform how people think about, talk about and participate in the giving season. #GivingTuesday inspires people to take collaborative action to improve their local communities, give back in better, smarter ways to the charities and causes they celebrate and help create a better world. #GivingTuesday harnesses the power of social media to create a global moment dedicated to giving around the world.

 

For more information, please contact:  

Diane Powell, Board of Directors
Hypersomnia Foundation, Inc.
diane@hypersomniafoundation.org
267-629-9250

 

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Dr. Dale Edgar Joins the Hypersomnia Foundation SAB

The Hypersomnia Foundation invites you to join us in welcoming Dale M. Edgar, PhD, as the newest member of our Scientific Advisory Board. Dr. Edgar joins Drs. David Rye, Nicholas Frank, and James Krueger in crafting our research agenda, raising awareness about hypersomnia in the scientific community, and developing our mechanism for reviewing, scoring, and funding the best research on the understanding and treatment of hypersomnia from the brightest young scientists.
Dr. Dale Edgar is an experienced scientist, drug hunter, and entrepreneur, who recently retired as an executive leader at Eli Lilly and Company. He is also a renowned expert in sleep disorders research and development. Dr. Edgar recently cofounded Novion Pharmaceuticals, a start-up neuroscience biotechnology company focused on the discovery and development of novel treatments for sleep disorders, where he is senior vice president of research.

Dr. Edgar previously served as Chief Scientific Leader of Discovery Sleep Research at Eli Lilly and Company – a cross-functional preclinical and clinical R&D function focusing on innovative medicines for sleep disorders and sleep-related comorbidities in psychiatry, pain, neurodegenerative disease, and metabolic disease. Within a year of joining Lilly he was conferred the prestigious title of Lilly Distinguished Research Fellow — the highest honor bestowed upon a scientist at the company. Dr. Edgar’s global multidisciplinary teams—located in the United Kingdom, Singapore, and the United States—delivered numerous compounds from inception to human clinical trials. Later in his career, Dr. Edgar was promoted to Global Head of Science and Technology Partnerships, responsible for the strategy and oversight of consortia, public private partnerships, and academic affairs across the Lilly research enterprise. He served on numerous governance committees, led Lilly’s Post-Doctoral Scientist Training Program, founded the prestigious Lilly Innovation Fellowship Award program, and served as a senior science and technology advisor to the President of Lilly Research Laboratories.

Prior to joining Lilly, Dr. Edgar was Cofounder, Senior Vice President and the Chief Science & Technology Officer of Hypnion Inc—a spin-out of the science and technologies he developed at Stanford University. Dr. Edgar led Hypnion’s preclinical and clinical research teams responsible for the identification and validation of novel pharmacological treatments for insomnia and disorders of excessive sleepiness. Hypnion was acquired by Eli Lilly & Company in April 2007. Prior to founding Hypnion in 2000, Dr. Edgar was Associate Professor of Psychiatry & Behavioral Sciences and Director of the Sleep and Circadian Neurobiology Laboratory in the Sleep Disorders Research Center, Stanford University School of Medicine. During his 15 years at Stanford University, Dr. Edgar achieved international recognition as a leader in sleep and circadian neurobiology and sleep-wake pharmacology. He is well known for his mentorship and training of young scientists and his seminal contributions in sleep and circadian physiology, including the identification of wakefulness-promoting mechanisms controlled by the suprachiasmatic nucleus and opponent processes that modulate physiological sleepiness. Dr. Edgar is also the principal inventor of SCORE™, a family of computerized real-time sleep and physiological assessment technologies and integrated pharmacological database that have greatly accelerated the process of preclinical drug discovery and lead optimization. These technologies are being used to help transform drug discovery at Lilly.

Dr. Edgar is a member of the Harvard Medical School Division of Sleep Medicine Executive Council, the ASPIRE Advisory Committee at Vanderbilt University School of Medicine, and the NeuroNET Advisory Committee at UT Knoxville. He has previously served as an officer of the Sleep Research Society and on Editorial Boards of the journal Sleep and the Journal of Biological Rhythms. He has been the principal investigator of numerous NIH, DOD, and industry partnership grants focused on sleep and circadian neurobiology, pharmacology and phenotyping. He received his master’s degree in biology from San Jose State University while a NASA Graduate Research Fellow at the NASA-Ames Research Center and then received his doctorate in biology/physiology from the University of California. He received postdoctoral training at Stanford University under Prof. William C. Dement. Dr. Edgar has published extensively, has numerous patents in sleep-wake drug discovery, and continues to educate on sleep health awareness and its importance to health care, the economy, and national security.


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Investing in the Future of People with Idiopathic Hypersomnia

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

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

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

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

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

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Getting Support From a Mental Health Professional

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

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

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

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

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

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

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

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

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

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

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

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

For further reading:

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

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

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


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

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

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

Background

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

Who Were the Participants and What Did They Do?

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

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

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

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

What Were the Results of the Study?

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


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

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

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

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

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You Are Amazing!

 
Once again, our incredible hypersomnia family has come together to support each other in a most amazing way. As you know, several anonymous donors challenged our community to enroll in the Hypersomnia Foundation Registry at CoRDS during the month of September. You responded beyond anyone’s imagination—118 people enrolled, bringing the total number of enrollees to 350! Completing those questionnaires and the entire enrollment process wasn’t easy, but you persevered—and the results are tangible. Not only did you raise $5900 for research, but two researchers have already submitted grant applications to the US Food and Drug Administration and the National Institutes of Health with the intent of using data from the Registry in their research. Having this incredible resource available gives scientists a leg up in applying for funding.

Although the challenge has come to an end, it is not too late to add your piece to the hypersomnia puzzle. The more people who participate, the more likely it is that scientists will be able to complete the puzzle and find effective treatments and a more thorough understanding of the cause of IH. Go to hypersomniafoundation.org/registry for more information.


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.

Posted in: CoRDS Registry, SomnusNooze

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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

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