Wednesday, January 29, 2014

Guest Blogger: Living with WED/RLS by Ali Dzienkowski

I remember when I was first diagnosed with Willis-Ekbom disease (also known as restless legs syndrome). I just started 6th grade, probably one of the most awkward times in a person’s life. Even though I felt relieved that the condition that I suffered from actually had a name, and that others had it too, I also felt conflicted – how could I explain to my peers why I sometimes nodded off in class when I could barely explain what WED/RLS was? I was also afraid that others might judge me for having a sleeping disorder, especially if they didn't know what it was.

As someone who has WED/RLS, I am faced with decisions every day that could potentially affect my sleep. Keeping a regular sleeping schedule (i.e. going to bed and waking up around the same time everyday) has been a significant help for me, especially while I was in college. For example, I knew that I could never pull an all-nighter (not that anyone should anyway) in order to cram for a test or finish a paper. I avoided late afternoon classes and too many classes in a row.

Personally, I like to think that living with WED/RLS is similar to living with a condition like diabetes – it might require changing your lifestyle a bit in order to allow you to live a normal life, but the important thing to remember is that it is doable. After I was first diagnosed with WED/RLS, I had to make some adjustments in my lifestyle in order to have a normal life. For example, I am more sensitive to caffeine, so I cut caffeine out of my diet (for the most part) – I don’t drink coffee or sodas. My only weakness is chocolate, which contains some caffeine, but as long as I’m aware of when and how much of it I consume, then I can sometimes avoid not sleeping well.

Having a positive attitude about living with a condition such as WED/RLS is another important thing that has helped me. I could sit around and mope all day letting my WED/RLS dictate my life, or I could take charge and live my life, with the awareness of how I can prevent having a sleepless night. WED/RLS is certainly not the worst thing in the world to deal with you – just need the right perspective.

The subject of sleep is something that I find interesting (for example, I always enjoy reading tips on how to get better sleep or why we dream and what they mean), so it’s kind of ironic that I have a sleeping disorder. I also believe that sleep is one of the most underappreciated aspects of life. So many important things happen when we sleep in order for us to function properly the next day. It is only when you or someone close to you suffers from a sleep disorder that you see how much sleep deprivation can affect a person’s life.

3 important life lessons I have learned from living with WED/RLS:
1. Learn to be your own advocate – don’t expect others to stand up for you.
2. Be proactive – no matter what you are doing, making sure you will be able to get quality sleep is important to take into account, so plan ahead whenever possible.
3. Every person must deal with some challenge – whether it is medically related or not, and whether they are willing to share it or not. Everyone has their own cross to bear in life.

About the blogger: Last May, I graduated from college with a Bachelor of Arts and I'm planning to attend graduate school in the fall. In my free time I enjoy reading, watching movies, doing arts and crafts, going to concerts for bands I like, and spending time with friends and family. - Ali Dzienkowski

Tuesday, January 21, 2014

Re: Bad medicine: Restless Legs Syndrome by the Medical Advisory Board

Re: Bad medicine: Restless Legs Syndrome

     In response to the Views and Reviews column by Des Spence—“Bad Medicine: Restless Legs Syndrome” (January 3, 2014) (1), we are writing as the Medical Advisory Board of the Willis- Ekbom Disease (WED) Foundation, a patient-based organization in the U.S.A. that serves individuals in North America and internationally who have restless legs syndrome (RLS, also known as Willis-Ekbom disease, or WED/RLS). We are medical professionals from various institutions and collectively have treated thousands of patients with moderate to severe WED/RLS over the years.

     It is absolutely true, as pointed out by another responder to the article, that WED/RLS can be mild and not need treatment, but the literature also indicates that about 2.7% of the population reports symptoms as moderately or severely distressing.  The resultant quality of life of these more severely affected patients is as equally poor as that seen with other chronic medical conditions (2) and, in some cases, the condition is severe enough to warrant visits to the emergency room (3).  WED/RLS consists of 4 primary features, all of which are necessary for the diagnosis:  (a)  an urge to move the legs usually but not always accompanied by bothersome leg sensations; (b) worsening of symptoms later in the day or at night; (c) worsening of symptoms when lying or sitting with (d) resultant relief by activity such as walking;. Most recently a 5th criterion has been added that excludes mimics of WED/RLS which superficially meet all the 4 primary criteria for WED/RLS but are not WED/ RLS, such as leg cramps and positional discomfort (4).        

      Do these criteria hold together as a biological whole?  The clinical and basic science studies of WED/RLS would indicate that this is so, as there is robust objective data showing CNS abnormalities.  More than 80% of patients with WED/RLS have involuntary movements while asleep (periodic limb movements in sleep) that can be recorded on an overnight sleep study and are responsive to dopaminergic medications (5).  About 1/3 to 2/3 of cases are familial and genetic linkage studies have revealed multiple gene loci (6).  Genetic allelic association studies have revealed several genes that predict WED/RLS, the BTBD9 and the MEIS-1 gene being the most studied of these (7,8).  Cerebrospinal fluid (CSF), neuro-imaging and autopsy studies show evidence of iron deficiency consistently, alterations in dopamine neurotransmitter levels, decreases in the endogenous opioids, (endorphins and enkephalins), and increases in glutamate in the brain (9-14).  Most recently, several specific proteins have been found to be altered in the CSF of WED/RLS patients compared to controls (15). In fact, autopsy studies have shown much more consistent pathology than other movement disorders, including essential tremor and dystonia.

       WED/RLS is a diagnosis officially recognized by the American Academy of Sleep Medicine, and expertise in WED/RLS diagnosis and treatment is required for board certification in Sleep Medicine by the American Board of Medical Specialties (16).  Recently an increased co-morbidity of hypertension, heart disease and stroke has been suggested for WED/RLS as well as an increased mortality, although the literature is not entirely consistent in these regards and a causal link remains to be established (17, 18).    

     The most common treatment for WED/RLS is actually dopamine agonists, which robustly improve the condition in many highly controlled clinical trials and have a rather specific mechanism of action.  Much is made of the 40% placebo response.  This is high, but no higher than that seen in other pain/neurologic disorders, and the placebo responder rate is lower than that seen with Parkinson’s disease (19,20).  Discussion of placebo mechanisms are beyond the scope of this letter but dopaminergic disease seem physiologically predisposed to higher placebo rates as placebo increases brain dopamine activity (21).

     The Willis-Ekbom Disease Foundation is named in honor of Sir Thomas Willis and Dr. Karl Ekbom who did the pioneering descriptions of WED/RLS in the 1600s in England and the 1940s in Sweden, long before there was any interest in this disorder by the pharmaceutical industry (22, 23). 


Medical Advisory Board of the Willis-Ekbom Disease (WED) Foundation
Arthur S. Walters, M.D.
William Ondo, M.D.
Philip Becker, M.D.
Mark Buchfuhrer, M.D.
Christopher Earley, M.D., PhD.
Diego Garcia -Borreguero, M.D
Jennifer Hensley, Ed.D., C.N.M., R.N.
Birgit Högl, M.D.
Mauro Manconi, M.D., Ph.D.
Abdul Q Rana, M.D.
Daniel L.  Picchietti, M.D.
Michael H. Silber, M.B.Ch.B.


(1) Spence D. Bad medicine: Restless Legs Syndrome. BMJ 2013; 347: 17615.

(2) Allen RP, Walters AS, Montplaisir J, Hening W, Myers A, Bell TJ, Ferini-Strambi L. Restless Legs Syndrome prevalence and impact; REST general population study. Arch Intern Med 2005; 165: 1286-92.

(3) Manconi M, Fulda S. Restless legs syndrome in the emergency room. Eur J Neurol. 2013 Feb;20(2):e36. doi: 10.1111/ene.12035. PubMed PMID: 23311509.

(4) International Restless Legs Syndrome Study Group, 2012 revised diagnostic criteria. Accessed September 12, 2013.

(5) Allen RP, Picchietti D, Hening WA, Trenkwalder C, Walters AS, Montplaisir J. The participants in the Restless Legs Syndrome Diagnosis and Epidemiology workshop at the National Institutes of Health in collaboration with members of the International Restless Legs Syndrome Study Group. Restless Legs Syndrome: diagnostic criteria, special considerations, and epidemiology. A report from the Restless Legs Syndrome diagnosis and epidemiology workshop at the National Institutes of Health. Sleep Medicine 2003; 4: 101-119.

(6) Trenkwalder C, Hogl B, Winkelmann J. Recent advances in the diagnosis, genetics and treatment of restless legs syndrome. J. Neurol 2009; 256: 539-53.

(7) Winkelmann J, Schormair B, Lichtner P, Ripke S, Xiong L, Jalilzadesh S et al. Genome-wed association study of Restless legs Syndrome identifies common variants in three genomic regions. Nat Genet 2007; 39: 1000-6.

(8) Stefansson H, Rye DB, Hicks A, Petursson H, Ingason A, Thorgeirsson TE et al. A genetic rsik factor for periodic limb movements in sleep. N Engl J Med 2007; 357:639-47.

(9) Connor JR, Wang XS, Allen RP, Beard JL, Wiesinger JA, Felt BT et al. Altered dopaminergic profile in the putamen and substantia nigra in Restless Legs Syndrome. Brain 2009; 132: 2403-12.

(10) Early CJ, Connor JR, Beard JL, Malecki EA, Epstein DK, Allen RP. Abnormalities in CSF concentrations of ferritin and transferring in Restless Legs Syndrome. Neurology 2000; 54: 1698-700.

(11) Allen RP, Barker PB, Wehrl F, Song HK, Earley CJ. MRI measurement of brain iron in patients with Restless Legs Syndrome. Neurology 2001; 56: 263-66.

(12) Connor JR, Boyer PJ, Menzies SL, Dellinger B, Allen RP Ondo WG et al. Neuropathological examination suggests impaired brain iron acquisition in Restless Legs Syndrome. Neurology 2003; 61: 304-9.

(13) Allen RP, Barker PB, Horska A, Earley CJ. Thalamic glutamate/glutamine in Restless Legs Syndrome: Increased and related to disturbed sleep. Neurology 2013; 80: 2028-34.

(14) Walters AS, Ondo WG, Zhu W, Le W. Does the endogenous opiate system play a role in the Restless Legs Syndrome? A pilot post-morten study. J Neurol Sci 2009; 279: 62-5.

(15) Patton SM, Cho YW, Clardy TW, Allen RP, Earley CJ, Connor JR. Proteomic analysis of the cerebrospinal fluid of patients with Restless Legs Syndrome/Will-Ekbom Disease. Fluids Barriers CNS 2013 Jun 7;10(1):20. doi: 10.1186/2045-8118-10-20.

(16) The International Classification of Sleep Disorders. Diagnostic and Coding Manual. Second Edition. The American Academy of Sleep Medicine. Westchester, Ill., pp. 1-297, 2005.

(17) Ferini-Strambi L, Walters AS, Sica D. The relationship among Restless Legs Syndrome (Willis Ekbom Disease), hypertension, cardiovascular disease, and cerebrovascular disease. J Neurol DOI 10:1007/s00415-013-7065-1 (Published Online August 21, 2013).

(18) Li Y, Wang W, Winkelman JW, Malhotra A, Ma J, Gao X. Prospective study of Restless Legs Syndrome and mortality among men. Neurology 2013; 81: 52-9.

(19) [Goetz CG, Wu J, McDermott MP, Adler CH, Fahn S, Freed CR, et al. Placebo response in Parkinson's disease: comparisons among 11 trials covering medical and surgical interventions. Mov Disord 2008;23(5):690-9.

(20) Macedo A, Banos JE, Farre M. Placebo response in the prophylaxis of migraine: a meta-analysis. Eur J Pain. 2008;12(1):68-75]

(21) Lidstone SC, Schulzer M, Dinelle K, Mak E, Sossi V, Ruth TJ, et al. Effects of expectation on placebo-induced dopamine release in Parkinson disease. Archives of general psychiatry. 2010;67(8):857-65.

(22) Willis T. The London practice of physick. London,: Basset and Crook; 1685.

(23) Ekbom KA. Restless legs. Acta Med Scand. 1945;Suppl 158:1-123.

Monday, January 20, 2014

Take Action: WEDF's response to British Medical Journal

British Medical Journal
January 20, 2014

Dear Editor,

As interim director of the Willis-Ekbom Disease Foundation and mother of a daughter who has a severe case of WED/RLS, I write to counter the “commissioned commentary” of Dr. Des Spence about Willis-Ekbom disease, also referred to as restless legs syndrome, or WED/RLS.

Dr. Spence begins his commentary by listing neurological conditions that allegedly “are based upon symptoms that patients report themselves” in the absence of “objective tests.” He might have added schizophrenia and, until recently, Alzheimer’s disease to his collection. WED/RLS is a serious, chronic medical condition that was identified by Sir Thomas Willis in the 17th century and described in the medical literature in 1945 by Dr. Karl Ekbom, who named the disease restless legs syndrome. The diagnosis of WED/RLS is based on the confirmation of four essential diagnostic criteria established in 2002 at a National Institutes of Health workshop and recently revised by the International Restless Legs Syndrome Study Group. (See  Research supported by the National Institutes of Health, after rigorous review and published in high quality peer-reviewed scientific journals, has identified alterations in brain and lymphocytes that enable investigators to differentiate individuals with WED/RLS from healthy “control” populations.

Dr. Spence makes three “observational” arguments to support his view that WED/RLS is either a rare condition or one that was fabricated by greedy pharmaceutical companies. First he notes that in 20 years of practice, he has never seen a patient with this condition. One wonders whether he would have recognized the problem if one of his patients had it. Even if he feels that he is competent to make the diagnosis of WED/RLS, this is no way to do epidemiology.

Second, Dr. Spence points to the involvement of pharmaceutical companies in supporting WED/RLS research and implies that they bribe clinical investigators to serve as drug salespeople. The clinicians at WED/RLS Quality Care Centers (Johns Hopkins Center for Restless Legs Syndrome, Mayo Clinic, and The University of Texas Health Science at Houston) would surely be offended by this suggestion, and I am too. These clinicians focus on what is best for their patients who have WED/RLS, just as they do for patients with other diseases. Until Dr. Spence and his like-minded colleagues begin to develop and manufacture drugs and give them away for free, we will have to rely on companies to produce them.

Finally, Dr. Spence says that in his view “the biological basis of RLS is implausible,” without bothering to mention the scientific studies of the pathognesis of the illness that have offended him so much. There is no scientific rigor in this argument.. Had he delved into the literature, he would have found that WED/RLS is seen in pregnant women who need iron supplements and in other patients who are iron deficient. It is common in people with diabetic neuropathy and in renal dialysis patients; and it is sometimes idiopathic. The idiopathic form, which is often familial, is associated with a defect in iron metabolism in the central nervous system and a reduction in dopamine there. Thus, it should not be surprising that dopamine agonists have been found to mitigate symptoms.

WED/RLS is a REAL disease affecting REAL people. Each day, millions of individuals suffer from the effects of WED/RLS. In many cases, WED/RLS symptoms are 24/7 and significantly affect all areas of life. An article in the Journal of Neural Transmission in 2007 reported that it typically takes 12.7 years from the onset of symptoms for the diagnosis of WED/RLS to be made and for treatment to be commenced. Suggesting that the disease is a figment of our imagination will not help the situation. Articles like the one Dr. Spence wrote do harm to individuals who are living with a chronic, often debilitating condition. I am surprised that the BMJ would commission an essay like this. It’s bad medicine.


Karla M. Dzienkowski
Interim Executive Director, Willis-Ekbom Foundation
Formerly the Restless Legs Syndrome Foundation

Note: An article published December 19 in the British Medical Journal questions current practices in WED/RLS diagnosis and treatment. We are asking the WED/RLS community to take action by reading the article: “Bad Medicine: Restless LegsSyndrome.” A subscription is needed to post a direct response. However, a free 14-day trial subscription is available.

Friday, January 10, 2014

Guest Blogger: Air Travel by Ed Murfin

I traveled by air to most of the national WED/RLS Conferences and Support Group Advisory Board (SGAB) meetings which were held while I was a Support Group Leader and member of the SGAB. One conference was held in a hotel in Los Angeles, CA. First, I had to fly from Jacksonville, FL to Charlotte, NC. It wasn’t bad. However, the 4 hour flight from Charlottee to Los Angeles was criminal. I told the flight attendants that I had requested an aisle seat because I didn’t expect to be sitting in it very much. Instead, I would be poking my legs out into the aisle often because of my WED/RLS. They understood, so they said, and asked me to just watch for other people in the aisle. I didn’t want them to think I was some kind of terrorist, spending time in the restroom to assemble a bomb or something. So during the flight, I spent a good bit of time walking up and down the aisle and standing in the galley with the attendants. By the end of the flight some of the passengers and all of the flight attendants were on a first name basis with me. 

The flight attendant who was at the exit door as I disembarked onto California ground for the first time in my life, paused as she helped me to the ramp and said, “You are the first person I’ve ever known who walked from the east coast to the west coast in four hours.”

About the Guest Blogger:
Ed Murfin, now 78 years old, is a former Support Group Leader from Jacksonville, Florida and has been a Foundation Advocate/Contact for northeast Florida and southeast Georgia since 2008.  He is looking to plan a regional educational meeting in Florida at the Mayo Clinic in late 2014.

Tuesday, January 7, 2014

Nightwalkers Cartoon Series: 6 of 12

TAKE ACTION! Bad medicine: restless legs syndrome

An article published December 19 in the British Medical Journal questions current practices in WED/RLS diagnosis and treatment. We are asking the WED/RLS community to take action by reading the article: “Bad Medicine: Restless LegsSyndrome.” A subscription is needed to post a direct response. However, a free 14-day trial subscription is available.

Sunday, January 5, 2014

Sitting Room Only

The latest "cartoon" in the new WED series NightWalker comes from the problems we face with people just not understanding what this disease is all about.  The urge to stand or move is so compelling to us but is simply not something most others can comprehend.

There truly are "no standing" policies in many theaters and almost all airlines.  Many people with WED are upset at not being able to watch an entire movie because they either fall asleep from medication or because they just can't sit still. Trying to explain this problem to an usher can be frustrating to say the least.  A good friend of mine had to leave the movie theater after they refused to let him stand in the back for the rest of the movie.  Airlines have strict rules about standing or walking for safety reasons.  If you explain the situation before boarding the plane, you can sometimes get an aisle or emergency row seat which at least gives you a little more wiggle room.  If you are very fortunate, you might find a flight attendant that has had experience with WED and will fudge the rules for you!

Office settings are a different matter.  When possible, explain to your supervisor or manager just what WED is and the need sometimes to be able to stand. Try to do so in an inconspicuous manner and for as short a period as possible.  Because, let's face it, moving around during a meeting can be disruptive--despite the fact that we can't help it.

I think the most heart-breaking situation though is not listed on a cartoon panel.  That's when friends and family just don't get it.  We try so hard to explain, teach and share what living with WED is like.  We educate ourselves so we can educate others.  We try hard to sit still, pay attention, listen closely but finally we have to get up, stand, walk around.  There are a few who understand yet there are also others who give you that look and you just have to sigh, explain again, or just do what you have to do and endure.  My husband and I were recently at a card party with several neighbors and friends.  There was an uneven number of players so I said I would sit out.  Some people insisted that I at least sit and keep score.  Some thought I was being antisocial.  Only two asked, "Do you need to move around?"  It wasn't that the others didn't care--they just did not get it.  They all know I have WED; they just don't understand it.

Our culture is getting better helping the handicapped get along in society, although there is still much work to be done.  We have "no smoking" areas in many restaurants and public areas--many towns are becoming non-smoking towns.  Maybe we need to be more assertive. Being militant or accusing will not work. That generally causes people to become defensive.  Maybe we need to stand together (pun intended) a little more and insist that the "no standing" rules and ideas need to be changed. Maybe we need to find creative ways to get our point across, like sharing this cartoon.  Humor might help.  Who is willing to stand with me?  Maybe we can organize some stand-ins (instead of sit-ins) or stand-up comedians who will laugh WITH us and not at us.  I, for one, will not take this lying down!!

Seriously, we just need to keep at it--explaining and educating.  One step and stand at a time.