The Value of Openness: The PatientsLikeMe Blog

Earlier this Fall at Medicine 2.0, PatientsLikeMe was honored to receive the inaugural Journal of Medical Internet Research (JMIR) Award for our paper on what we can learn about drugs post market from patients reporting treatment experiences on PatientsLikeMe.

Once a drug is on the market, it can be difficult to evaluate how it’s working in the real world for different kinds of people using it for different purposes. In this paper, our research team examined how we can learn from collecting the experiences from individual members scattered around the world into a single database. The study focused on Amitriptyline, a medication used widely and for a variety of purposes, and reports on why patients take it, the efficacy of the drug, its side-effects and associated burden.

To see patients’ real world experiences with a specific treatment, like Amitriptyline, you can browse the thousands of treatment reports shared on PatientsLikeMe.  You can also view a summary of our Medicine 2.0 presentation here or below to learn more about this study.  The full paper will be published in 2010, so stay tuned!

PatientsLikeMe made the following announcement last night at the TEDMED conference.  For more on Jamie Heywood’s presentation, check out what people are saying on Twitter.

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PATIENTSLIKEME ADDS ONLINE COMMUNITY FOR PEOPLE WITH CHRONIC FATIGUE SYNDROME
Researchers Use Open Medical Network to Measure Real-World Impact of XMRV Virus

Cambridge, MA–October 30, 2009–PatientsLikeMe (www.patientslikeme.com), the leading online community for people with life-changing conditions, announces the expansion of its fibromyalgia community to welcome patients with chronic fatigue syndrome (CFS), also know as myalgic encephalomyelitis (ME). By sharing information about their experience with CFS, patients can now find others just like them, including other patients who may have the newly discovered xenotropic murine leukemia virus-related virus (XMRV). The purpose of this expansion is for PatientsLikeMe to research the impact XMRV has on CFS patients.

“With 1 million patients diagnosed with CFS, and potentially 10 million Americans who could be infected with the XMRV virus, there is an unique opportunity to use the power of our open medical network to understand this illness and accelerate the validation and development of new biomarkers and treatments,” says Jamie Heywood, co-founder and chairman of PatientsLikeMe.

There are currently more than 7,000 patients, many who have CFS, in the PatientsLikeMe fibromyalgia community sharing meaningful data for researchers to analyze about the condition. As part of this expansion, the PatientsLikeMe platform will allow patients who test positive for XMRV to indicate that on their profiles, much how ALS and Parkinson’s patients can now add their genetic information.

Adds David S. Williams III, head of business development at PatientsLikeMe, “This discovery may spur research into the efficacy of anti-retrovirals for patients with CFS, which could have a dramatic impact on the $10 billion market for these medications.”

Heywood will announce the new CFS community on stage at the health technology conference TEDMED in San Diego, CA today. CFS marks the 17th condition available to patients on PatientsLikeMe, which now boasts more than 45,000 patients sharing health data on treatments, symptoms and outcomes. The company’s next community for people with epilepsy is scheduled to launch in early 2010. More about PatientsLikeMe partnerships can be found on its partner site: http://partners.patientslikeme.com.

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Primary Lateral Sclerosis (PLS) and Progressive Muscular Atrophy (PMA) are two rare variants of the disease ALS. Normally, ALS affects the upper motor neurons in the brain and spinal cord, as well as the lower motor neurons that send signals from the spinal cord directly to muscles. PLS and PMA are different because PLS only affects the upper motor neurons, and PMA only affects the lower motor neurons. It’s an important distinction for patients to be told about because the prognosis is less severe in these conditions.  On average, survival in ALS is typically reported to be 2-5 years, whereas for patients with PMA it’s more like 5-10 years and for PLS it’s even longer (often several decades).

ALS itself is a rare condition, affecting some 30,000 people in the United States at any one time.  PLS and PMA each represent approximately 5% of the overall ALS community, so there’s approximately 1,500 patients with each condition in the U.S at any given time.  In April 2008, PatientsLikeMe added the ability for members of our ALS community to change their diagnosis to these rare conditions.  To date, we now have 182 patients with PLS and 270 with PMA. This is truly exciting because even the largest studies in the literature have only examined 40 or so PLS patients and a similar number of PMA patients. One of our most useful features on our site for people with ALS is the percentile curves, which we display as a backdrop on their profiles to put each individual’s rate of progression into context. However, as you can see in the figure below, when you compare the progression curves of ALS patients on our site with those of a typical PLS patient, the PLS patient progression deviates significantly from the ALS curves.

With so many PLS and PMA patients sharing such valuable information about their disease on PatientsLikeMe, we had enough information to generate a new set of percentile curves for each of those communities.  To do this, we used self-report ALSFRS-R (ALS functional rating score - revised) data from 104 PLS patients and 59 PMA patients that met our criteria for data quality. We have good data for the first 4-5 years of disease after onset, and after that point we rely on linear extrapolation to make the plots.  Here we see the value of openness in action.  When you see the potential value in contributing your data, it drives a virtuous cycle: the more data you enter, the more value you get, so you enter more data!

As any of our patients in these communities will tell you, being diagnosed with a rare disease can be a frustrating experience. Aside from dealing with the condition itself, there’s the lack of public awareness, a lack of research investigating your condition, and a sense that you are being “lumped in” with a similar disease because your community doesn’t have the critical mass to merit its own attention.  These new percentile curves for PLS and PMA patients demonstrate the value and power of openness.  By sharing their health data in an open fashion, patients are providing new insights that are changing how we think and act when it comes to these very rare conditions.

Note:  A potential limitation of these curves is that they represent the outcomes for patients that are members of PatientsLikeMe and may not be generalizable to the entire population; we are working hard to better understand and correct for the biases in our population and data. As the size and longevity of each community increases, we will be in a better position to address these issues.

Today is an exciting day for PatientsLikeMe.   In a first-of-its-kind industry-patient partnership, PatientsLikeMe is joining forces with biopharma company, UCB, to launch a new community for people with epilepsy to capture real-world experiences of the disease and help advance research.

The news release announcing the partnership is below.

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BRUSSELS, BELGIUM and CAMBRIDGE, MA–(Marketwire - June 15, 2009) - Biopharma company UCB and PatientsLikeMe, the leading online community for people with life-changing conditions, today announced a strategic partnership to create an online, open epilepsy community that captures real-world experiences of people living with epilepsy in the U.S.

Scheduled to launch in early 2010, this platform will be designed to collect, analyze and reflect information received from people with epilepsy, regardless of their diagnosis, prognosis or treatment regimen.

More…

Despite some recent happenings in the news, we’re here to assure you that health 2.0 is still very much alive.  Here’s our recent announcement about our new partnership with 23andMe.

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PatientsLikeMe, the first community-based personalized medicine platform for people with life-changing conditions, and 23andMe, the world’s leading personal genomics company, announce a partnership today to help people with Parkinson’s disease.  PatientsLikeMe is teaming with 23andMe on its effort to recruit 10,000 people with Parkinson’s for a massive study of the disease, and give patients a way to learn more about their personal genetics.

“Today, technology is moving faster than the research establishment,” says James Heywood, co-founder and chairman of PatientsLikeMe.  “We are excited to see what happens when you give patients the ability to see variations of their disease and compare it to their own, while enabling them to easily define their personal genomics.”

More…

When most people think of Parkinson’s disease (PD), they think of a shuffling gait, a shaky hand, and slowness of movement. As awareness has increased of the non-movement symptoms of PD, such as hallucinations and depression, we’ve seen the psychological consequences the disease can have too. More recently, studies in the scientific literature have been reporting on cases of excessive gambling in patients with PD, sometimes associated with the use of dopamine-agonist drugs such as pramipexole (brand name: Mirapex).

In the Parkinson’s disease community on PatientsLikeMe, we came across several accounts from distressed members who had suddenly acquired a significant gambling problem. One member wrote:

“I am spending a lot of money that i should not spend.  I wake up thinking about the lottery, I daily purchase lottery tickets, scratch offs, and often wish that I could get on the bus to go to the casinos… Help me before I spend all of our little savings.”

We set out to investigate further, setting up a research collaboration with Dr. Graeme MacPhee of the Parkinsons Disease Non-Motor Group (PDNMG) and Southern General Hospital (Glasgow, Scotland), who has carried out studies in this area in the past. Although previous studies had associated problem gambling with dopamine-agonist drugs, we wanted to find out if gambling might be elevated in other patients with a neurodegenerative movement disorder; maybe gambling was just an outlet for boredom or something that someone with physical disabilities could take pleasure in as a hobby. Therefore, we used a control group from our ALS community. Because users of our site are, by definition, web users, we were also interested to see if our users were more likely to be using online gambling websites than other reports in the literature. Finally, we wanted to know more about what was driving patients’ gambling behavior.

Because of the size and levels of engagement in our patient communities, we were able to receive responses from more than 400 patients in about a week. Normally, a study of this size would take several years and a team of researchers to carry out, showing the potential power of sharing and openness.

What did we find?

• We found a higher level of problem gambling in our PD population (as defined by the South Oaks Gambling Scale) than previous studies; 13% of PD patients as opposed to previous estimates of around 4%.
• Patients with ALS were much less likely to gamble; only 3% of ALS patients scored above cutoff for having a gambling problem, compared to estimated rates of 0.25-1.7% in the general population.
• The average “problem gambler” with PD had spent nearly $3,000 on gambling in the past 12 months, and an estimated $24,000 in their lifetime.
• The most common forms of gambling behavior were the lottery, slot machines, or visiting a casino. Gambling online using the internet was uncommon; only 2% of PD patients reported ever having gambled online, and just 2 out of 27 problem gamblers with PD.
• PD patient with problem gambling were more likely than ALS patients with problem gambling to say that their gambling was distressing or out of their control.
• In our study, problem gamblers with PD were no more likely than non-gamblers to be on a dopamine-agonist drug.

We were interested to find that our study produced a higher estimate of problem gambling in PD than previous studies. It could be that our population is biased or unusual in some way; we have a slightly higher proportion of young-onset PD patients, who may be more prone to gambling. We also suspect that people are more willing to admit to distressing or embarrassing behavior issues in an anonymous online survey as opposed to discussing it in the doctor’s office.

As more of these cases have come to light, warnings about compulsive behavior have appeared on the label of dopamine-agonist drugs such as Mirapex.  It is the responsibility of everyone involved in the care of people with PD to warn them of the risks. The more patients like those in our community share their real-world experiences of treatments and side effects, the more researchers, drug-makers, doctors, and other providers can learn to help minimize the risks and maximize their quality of life.

Wicks P, MacPhee G (In press) Pathological Gambling amongst Parkinson’s Disease and ALS patients in an online community (PatientsLikeMe.com), Movement Disorders Read the rest of this entry »

In today’s issue of the journal Science two papers describe the discovery of a new gene for ALS (you can read the abstracts here and here). Around 90% of ALS cases are sporadic, i.e. we don’t know what causes them, but for 5-10% of patients the disease runs in their family (known as familial ALS, FALS). Until today, there was only one major causative gene that we knew about, called SOD1, which accounted for 20% of familial cases. Today’s new discovery of the gene FUS (also known as ALS6) accounts for an additional 3-5% of familial cases and was the result of an international collaboration between scientists in Boston, London, and Sydney. This is very exciting for research because the more we know about what causes ALS, the better our chances of finding an effective treatment through better understanding of the pathways involved in motor neuron degeneration.

Here at PatientsLikeMe, we’ve recently upgraded our ALS platform to capture data on familial ALS patients’ known genetic mutations. The goal is to help familial ALS patients find another patient like them, and to enhance understanding of the phenotype of each mutation, e.g. if different types of mutation cause a faster or slower disease progression. Ultimately our aim is to try and establish whether there might be any treatments that have a differential effect on patients with different disease-causing mutations. There are examples of this already known in other diseases; for instance the presence of absence of the Philadelphia chromosome in chronic myelogenous leukemia (CML) predicts whether the patient will respond to the drug Gleevec. Although there is currently only a single effective treatment for ALS (Rilutek), there are a number of trials underway investigating the potential of drugs for patients with specific gene mutations.

The unique outcome data captured on the PatientsLikeMe platform also allows us to learn more about the nature of the disease for FALS patients with different genetic mutations. In the graph above you can see the average rate of progression for patients with three different FALS mutations; the common and aggressive A4V mutation (sadly average survival is ~18 months), the rarer recessive D90A mutation (much longer average survival of ~13 years), and a very rare and recently identified mutation of VAPB, referred to as ALS8. Collecting genetic data and combining it with high-quality patient-reported outcomes helps a patient to answer the question “Given my status, what is the best outcome I can expect to achieve, and how do I get there?”.

Note: If you have familial ALS and know your genetic mutation status please consider joining our ALS community and sharing your genetic information through your diagnosis history.

Back in November, Jamie Heywood and I attended the 19th International ALS/MND Symposium in Birmingham, UK.  As part of an ongoing series of blog posts reporting from that conference, I have put together a narrated slideshow which is an abridged version of a platform presentation I was asked to give at the conference about the past, present, and future of the internet for patients with ALS/MND.

As you will see in the presentation, there has been a strong online presence in the ALS/MND world since the early 1990s. Over time, the proportion and representativeness of the patients participating has increased dramatically, to the point that we now have some 10% of the USA’s ALS/MND population registered on the site.

Next up in our series…a blog post looking at some of our recent improvements to PatientsLikeMe for people living with ALS/MND.

Last week, PatientsLikeMe presented a keynote address at the inaugural Medicine 2.0 Congress in Toronto, Canada in front of 200 researchers from 20 countries. A new, annual international conference on Web 2.0 (social web) applications in health and medicine, this year’s event was centered around the theme: “Building Virtual Communities and Social Networking Applications for Patients and Consumers.” You can view the entire conference proceedings online.  The event is organized by Gunther Eysenbach, MD MPH, who is the editor and publisher of the Journal of Medical Internet Research, where Jeana Frost and I recently published our paper - “Social Uses of Personal Health Information Within PatientsLikeMe.” 

This was a great opportunity to update the research community on how our patient members are engaging in data-driven discussions about their health.  In my presentation, I gave an overview of the site, summarized some of our published research results, and provided examples of how patients are using our forum and profile comment tools to better understand their own and other’s experience of symptoms and treatments.  What really impressed this audience is that PatientsLikeMe is delivering the best of what “medicine 2.0″ can potentially deliver to the healthcare consumer, and patients are using it.  It’s very powerful for others to see how patients are talking with one another about treatment and symptoms experiences (supported by data in their profiles) to achieve better living.  This is exactly what can happen when we put “Patients First,” and give them a community to support the right interaction at the right time.  Our patient members today feel empowered to take back their health, and this kind of commitment will lead to better research, better healthcare and better quality of life.

Most people think of Parkinson’s disease (PD) as a condition of aging, and most of the time they’re right. Looking at the population as a whole, about 1-2% of people over the age of 65 have PD, and it’s usually a condition that is most severe in patients in their 70’s and 80’s. However, about 10% of patients buck this trend and experience their first symptoms before the age of 40; these patients are known as Young-Onset PD or YOPD for short. The R&D team here at PatientsLikeMe recently carried out a research study examining an aspect of PD that has only recently gained much attention, “non-motor symptoms.” When a clinician diagnoses PD, they are usually looking for a triad of cardinal features, specifically tremor, slowness, and stiffness. However, in the past 5-10 years it has been increasingly clear that patients with PD also experience a number of non-motor symptoms, ranging from dizziness to constipation, from a loss of sense of smell to hallucinations, and from apathy to urinary problems.

Several of our members had mentioned in forum postings that they were finding non-motor symptoms, such as cognitive confusion and fatigue, to be a particular burden, so we decided to carry out a research study using the well-validated Non-Motor Symptoms Questionnaire (NMS-Quest) developed by Professor Ray Chaudhuri and colleagues. We sent the survey out to all of our PD patients earlier this year. In total, we got responses from 307 patients, including 260 “classic” PD patients and 46 with YOPD. The results show a higher number of non motor symptoms among YOPD patients (14/30) than PD patients (11/30). That’s an average of three more non-motor symptoms for YOPD patients than their older counterparts. More specifically, YOPD patients (at the individual level) report apathy, concentration problems, falls, pains, and sadness more often than older onset PD patients.

You can listen to a short presentation, or read our full report for a more detailed analysis of our methodology and findings, but there were several points I found particularly interesting.

• It’s unusual enough to have YOPD, which can be an isolating and confusing experience. For YOPD patients to experience even more non-motor symptoms than patients with more typical PD seems alarming, and requires urgent attention from clinicians, researchers, and patient advocacy groups to ensure their needs are being met.

• This sentiment is echoed in some of the patient interviews we conducted with members earlier this year. Click here to view the first in a series of interviews to be posted on our YouTube page, and hear for yourself what YOPD patients had to say when we asked what people should know about PD. (More videos to come on our YouTube and Facebook pages, so stay tuned!)

• YOPD patients are more likely to still be working, to be supporting families, and to be looking after young children or parents. Therefore, even minor changes in cognitive function or mood could have a substantial impact on their ability to function.

• Because YOPD patients are relatively rare and spread out, researchers aren’t often able to gather sufficiently large samples to study them in detail. A research platform like PatientsLikeMe provides an ideal opportunity to collect high quality data in an efficient way.

PatientsLikeMe was born of a passion to provide the best tools for patients to participate in their own care, share experiences and change the way medical research is done.Thanks to our members and the dedication of our growing team, our first community, ALS, has now been open to the public for two years! The community includes over 1650 patients, the U.S. members represent over 4% of all the ALS patients in the States.

Over three quarters of our members have entered substantive information about their treatment history and status. Each time a member adds information, that information benefits how other people care for themselves and heightens how we as a community contribute to medical knowledge and drug discovery.

Already we have published exciting findings from our community. For example, hundreds of ALS patients completed Paul Wick’s survey on Excessive Yawning and the results were published in a psychiatry journal (Acta Psychiatica Scandinavica). Another exciting development in ALS is first real time drug study - on the use of Lithium in ALS. More published and presented research will soon be featured on our blog and in a new section on the site. Each project demonstrates how we, as a community, can conduct research quickly and easily to accelerate the pace of gathering and disseminating new knowledge. SO THANK YOU.

To show you how the research process works and to celebrate our second anniversary, we have put together a report on our ALS community. In it we observe that the community is a good one to study in that it looks a lot like the ALS patient population at large. As is true for ALS generally, there are 3 men for each 2 women in the community and mostly sporadic cases (8% hereditary, 92% sporadic). And, PatientsLikeMe members experience all types of onset with the most common being leg and arm onset (39% and 37% respectively). The only real difference is that site members are a little younger than the average (48.4 at onset on the site compared to 55 generally). In the report, we also looked at how different ways to better understand ALS and connect patients. In the figure below, we look at the relationship between age at onset and onset type. Separating each age group, we see whether different types of ALS present themselves at different times of life. This can contribute to scientific understanding of the disease. Arm onset appears to affect slightly younger people than bulbar and leg onset. Also, when each number in the chart is a link on the site, it will help you locate others like you and of interest to you. See the next figure. We also report early stage research of our own. Specifically, we look at how patients are utilizing health services and how our members with different types of onset are doing over time. One surprising finding is how long some people report between experiencing their first ALS symptom and receiving a diagnosis. In the figure below, the most common length of time between onset and diagnosis was 12 – 18 months. There are also a number of patients who did not receive a diagnosis for several years. We are going to do some more research into these results.

Lastly, we begin to look at how ALS differs by onset. We see from our user reported Functional Rating Scale that bulbar onset patients experience a faster decline than users with arm or leg onset. People with bulbar onset experience the same level of decline in 8 months as leg and arm onset patients experience in 16 months.

Through member participation, we are gathering the information we need to better understand the course and characteristics of ALS. At the same time, we are creating methods to use patient supplied data to discover and evaluate the effects of new possible treatments. If you are an ALS patient or caregiver, please take a look at the full report (Note: you must be a registered user).

by James Heywood

Update (March 7, 2008):  PatientsLikeMe ALS Lithium Research released.

Does it work?
On February 12th of this year, Proceedings of the National Academy of Sciences (one of the leading science journals) published a paper entitled — Lithium Delays Progression of Amyotrophic Lateral Sclerosis. After 10 years researching ALS, I believe it is fair to say this paper includes the most promising suggestive set of data from a clinical trial ever published. I say “suggestive” because there are many flaws with both the information presented and with the publication process itself. These flaws make it so that patients and their doctors are left trying to draw conclusions about the use of Lithium to treat ALS, without actually having any realistic confidence in the data or its meaning.

For a patient, there is genuine risk either way. Lithium is not a harmless drug, and, although it is widely used, it can have significant side effects if it is not monitored properly. In addition, the reality is that in several of the last clinical trials in ALS, including minocycline and topiramate, the patients in the treatment group did worse than those in the control group. So, fears about the risk of an unproven drug are well founded. However, there is also the risk of doing nothing. If the paper turns out to be even half true, the effect on the progression of the disease could be dramatic.

We also must consider the consequences of waiting for more information. For someone with a life expectancy of several years, the consequence is obvious. Unfortunately, the harsh reality is that the traditional medical research system will not provide any better data to patients for at least 2 years – that is, 6 months to start a trial, 15 months of evaluation, and 3 months to share the data. In fact, 2 years is being optimistic, if truth be told. History teaches us that it will most likely be much longer.

History also teaches us that patients sharing stories with each other will not answer the question alone. Chinese stem cells, herbal supplements, nutraceuticals — all have been discussed extensively on the internet with some claiming cures and some describing great harm; yet we have no definitive answer. Despite the thousands of postings, very little knowledge has advanced the treatment of ALS, and patients are still left unable to make effective treatment decisions.

We can and will do better
PatientsLikeMe was built to solve this problem and accelerate the transfer of knowledge about what works and what does not. Today, PatientsLikeMe has data on the progression and history of more than 1600 ALS patients - twice the number in the largest ALS trial in history. Even before the trial results were published, 50 patients worldwide who had elected to start taking lithium, in collaboration with their doctors, have been tracking their progression and blood levels on PatientslikeMe. This is more than twice the number of patients participating in the trial itself! We have data on historical forced vital capacity, the ALS Functional Rating scale, and a full symptom battery for most of the patients who have started, as well as for all the other non-lithium users in our system.

PatientsLikeMe is committed to solving this problem. We are collaborating with Humberto Macedo, a patient, and Karen Felzer, who’s father has ALS, to recruit all patients taking lithium. Together, with all the patients involved, we will run the first real-time, real-world, open and non-blinded, patient-driven trial. We believe we will have the power, within months, to begin answering the question of how much lithium modifies the progression of ALS. Unlike a blind placebo control trial, we are watching the use of this drug in the real world, and because of the number of patients and our system’s sophisticated data modeling, we can determine the significance of each reported change in each patient as he/she deviates from his/her predicted course. There are many risks to our approach, patient optimism, the placebo effect, uncertain quality, and many other variables will compromise our data. Despite these, and many other challenges, we remain committed to solving this problem.

Our Pledge to ALS Patients
We will use all our shared patients’ data to determine, to the highest predictive power possible, the effect of lithium on ALS patients in the real world. We will share that information in real time with all patients. We commit to displaying that information in a realistic manner that communicates the true confidence and uncertainties it contains. We will build a platform that allows patients, doctors and researchers the ability to drill down into all of the data in the system, to each and every data point, so that they can trust that our analysis is based on what really happened. We commit to engaging in an open and productive dialogue about our methods, so we can all learn to do this better – today and tomorrow.

What you need to do
Regardless of whether you take lithium or not, we need your data. The more patients that share their information, the more power we have to detect the effect of lithium, or any of the other 800 treatments in our system. We encourage all patients, including those who have chosen on their own in effective consultation with their doctor to take lithium, to join PatientsLikeMe and share your data with the world. We do not encourage any patient to start taking lithium. As noted above, all drugs have risks and, in general, ALS patients have experienced more harm than good trying experimental treatments. It is important to note that, either way, you help if you participate, because the more data we have, the more ability we have to answer the question of what’s working.

Realistic Hope
In the 9 years since my brother, Stephen, was diagnosed with ALS, we have been through so many cycles of hope and disappointment. We have tried treatments that turned out not to work, and we have tried treatments that were and remain unproven. Each time, we approach the data with a little more skepticism, as each time before it has been proven to be wrong. Someday a treatment will work. I hope and pray that lithium is the one, but I am realistic given the failures of the past. The realistic hope of PatientsLikeMe is that together we can accelerate the day when we know. We know most patients use PatientsLikeMe because they want to talk to someone like them and support their friends, they use PatientsLikeMe to share their insights; they use PatientsLikeMe, because, without question, we improve patients’ quality of life through the sharing of information. We value that greatly, but we also have higher goals, Today, we start achieving them. Today, we allow patients to begin to answer how to treat ALS, and that will help us answer it for all diseases.

The first thing we experience about yawning is an urge to do so, one that can be so hard to suppress that we end up gulping down an extra serving of air when we’re trying to appear interested, or polite, or awake. But what if you yawned even if you weren’t tired, or bored? What if you got attacks of yawning six, seven, eight times in a row that you couldn’t stop? This can be a problem for some patients with ALS, and it’s made worse by the fact that due to weak jaw muscles they could dislocate their jaw.

That’s why I was particularly interested when a news report on PatientsLikeMe listed “increased yawning” as a symptom of ALS. It occurred to me then that we had in front of us the perfect way to investigate excessive yawning in more detail. The first step was to set up “excessive yawning” as a primary symptom in ALS, meaning that all new members would be rating whether they felt it was mild, moderate, or severe. Coincidentally, a paper had just come out which reported two patients (not with ALS) with excessive yawning after being prescibred an SSRI antidepressant drug. We now had a couple of different hypotheses we could test out; first that yawning in ALS was associated with respiratory funciton, second that it was associated with SSRI use, and third that it might be something to do with emotional lability. I took the new publication as an opportunity to write a letter to the editor on the subject. I wrote:

254 patients (47%) completed the survey on excessive yawning. Excessive yawning was reported to be absent in 75 patients (30%) mild in 75 (30%), moderate in 81 (32%), and severe in 22 (9%). Using Spearman’s Rho there was no correlation between severity of yawning and age (r = −0.63, P = 0.329, n = 244) months since diagnosis (r = −0.032, P = 0.619, n = 250), or the last recorded measurement of forced vital capacity (r = −0.136, P = 0.99, n = 148). There was no association between yawning severity and anti-depressant usage (χ² = 3.269, P = 0.352). However, there was an association between yawning severity and site of onset (χ² = 18.705, P = 0.028). Patients with a bulbar onset of disease were more likely (57%) to have moderate or severe yawning than patients with an arm onset (42%) or leg onset (31%).

So, from this data it looks like we can reject hypothesis one (breathing) and hypothesis two (SSRI use). But what about emotional lability? The reason I thought it might be a factor is that, much like uncontrollable laughter and crying, people yawned even when they weren’t sleepy and had difficulty with inhibition. Emotional lability is also found to be much more common in the bulbar-onset form of ALS relative to limb onset forms. Our own stats show a moderate but significant correlation between the two symptoms (r=~0.3) , and at the recent ALS/MND International Symposium in Toronto one of the speakers mentioned that they also consider yawning a sign of lability.

Why is all of this important? For one thing, the fact that yawning can be painful for ALS patients means we should try and stop it, but our discussions on PatientsLikeMe brought to light another reason entirely: people were losing friends because of it as they were intepreting their frequent yawning as a sign of boredom or rudeness! So, my interest now is for two things to happen; first for patients and healthcare professionals to be more sensitive to the presence of excessive yawning and clarify to patients that it can be a symptom, and second for researchers to investigate potential treatments that might target emotional lability and excessive yawning in order to improve the quality of life of our patients.