Karina Sturm

@karina-s | contributor
Karina is a freelance journalist, filmmaker, and writer, who lives with Ehlers-Danlos syndrome (EDS) and many other related conditions. When she doesn't write, she enjoys being outdoors, somewhere close to the ocean.
Karina Sturm

How My Ehlers-Danlos Journey Inspired Me to Create This Documentary

I will never forget the moment when I was diagnosed with Ehlers-Danlos syndrome (EDS) in 2014. After four years of severe symptoms related to a complication of EDS, cervical spine instabilities and no help from doctors in Germany, where I grew up, I decided to fly to the United States to find an expert there. A few months later, I was sitting in a doctor’s office in a country that I had previously only known from Hollywood movies with a diagnosis I had heard before but didn’t know what it would mean for the rest of my life. The year following my diagnosis, I went through all stages of grief, and I still sometimes do today. It took a long time to accept my new reality: a life with a chronic illness. The challenge related to EDS I struggled with the most was that the illness took away my whole identity for some time. I couldn’t do most things that I loved; I was unable to continue my job, and I lost the abilities for most of my passions. Whenever someone asked me “And what do you do for a living?”, I would feel ashamed and say, “Nothing. I can’t work.” Because people never understood that even though they can’t “see”  anything wrong with me, I am still severely sick. I felt like, all of a sudden, I wasn’t part of any community. I was isolated. And now, not only my symptoms were invisible, I became invisible as a person as well. It took years until I realized that I was worthy for just being me, but this realization didn’t give me back the feeling of having a purpose in life. So I started to write down my thoughts, my worries, my daily life, and almost by fate, I found myself to become a journalist! My German teacher at school would laugh at the irony as I had the worst grades in school — mainly because I was never allowed to write about topics that interested me. Slowly, but gradually, I dug myself out of the hole I was hiding in, and with every article I wrote, I felt more alive and more visible. I dedicated my work mainly to medicine and science, but when I officially signed up for a journalism degree in Scotland, it hit me! I realized that not only was I feeling invisible and unheard, many other members of my community must feel just like me. And I needed to actively do something about it! And this is how the idea behind “We Are Visible,” my film about people living with Ehlers-Danlos syndrome, was born. First, this documentary was supposed to be a small student project only for my teachers to see, but all of a sudden, it became the center of my life. When I shared the trailers with the community, the resonance was so huge that I felt quite overwhelmed, but I was also proud since filming has cost me a lot: financially and emotionally. Overall, I filmed in six countries: Germany, Malta, the U.K., the U.S., Belgium and the Netherlands. I followed each family for a few days and tried to catch their challenges as well as their strength to cope with all their EDS symptoms. Sometimes, I was too sick to film, and I would lie on the couch in the living room of my contributors, unable to move. Other times, my main subject was too exhausted to get up, and we would film them in bed. Filming chronically ill people as a disabled filmmaker came with more challenges than I could have ever imagined. Many times, my flights were canceled, or my wheelchair transport service forgot me, and I almost missed my flights. There were several instances when none of our filming plans worked out, because, as you can imagine, EDS just happened and someone ended up in the hospital for EDS related complications. It took me 14 months from starting to film to finalizing the editing process, all of which I did by myself. I just kept investing more and more time and resources as the film took over my whole life. All of the people in my film taught me so much, and I often just ignored the physical consequences a project like this had on my body. I don’t think I can ever produce a feature-length, non-profit film like this again, but I am not regretting a moment throughout the last years! A few weeks ago, I was invited to be part of the film screening at Chapman University in Orange, CA. It was the first time that I got to see the reactions of an audience while watching the film. And I did not expect people to cry because they could relate so much; because all of a sudden, they felt heard, and they could see their own stories in every one of my film’s contributors. Even though we had a pretty rough start that day, with lots of tech issues that could have easily distracted a critical audience, none of it seemed to matter after the film screening ended. I experienced a community that was just like me, and that made me feel like everything I invested in this film was more than worth it. Because together, we really aren’t invisible. We Are Visible! Follow this journey on the author’s blog. Learn more about the film here: www.we-are-visible-film.com

Karina Sturm

How My Ehlers-Danlos Journey Inspired Me to Create This Documentary

I will never forget the moment when I was diagnosed with Ehlers-Danlos syndrome (EDS) in 2014. After four years of severe symptoms related to a complication of EDS, cervical spine instabilities and no help from doctors in Germany, where I grew up, I decided to fly to the United States to find an expert there. A few months later, I was sitting in a doctor’s office in a country that I had previously only known from Hollywood movies with a diagnosis I had heard before but didn’t know what it would mean for the rest of my life. The year following my diagnosis, I went through all stages of grief, and I still sometimes do today. It took a long time to accept my new reality: a life with a chronic illness. The challenge related to EDS I struggled with the most was that the illness took away my whole identity for some time. I couldn’t do most things that I loved; I was unable to continue my job, and I lost the abilities for most of my passions. Whenever someone asked me “And what do you do for a living?”, I would feel ashamed and say, “Nothing. I can’t work.” Because people never understood that even though they can’t “see”  anything wrong with me, I am still severely sick. I felt like, all of a sudden, I wasn’t part of any community. I was isolated. And now, not only my symptoms were invisible, I became invisible as a person as well. It took years until I realized that I was worthy for just being me, but this realization didn’t give me back the feeling of having a purpose in life. So I started to write down my thoughts, my worries, my daily life, and almost by fate, I found myself to become a journalist! My German teacher at school would laugh at the irony as I had the worst grades in school — mainly because I was never allowed to write about topics that interested me. Slowly, but gradually, I dug myself out of the hole I was hiding in, and with every article I wrote, I felt more alive and more visible. I dedicated my work mainly to medicine and science, but when I officially signed up for a journalism degree in Scotland, it hit me! I realized that not only was I feeling invisible and unheard, many other members of my community must feel just like me. And I needed to actively do something about it! And this is how the idea behind “We Are Visible,” my film about people living with Ehlers-Danlos syndrome, was born. First, this documentary was supposed to be a small student project only for my teachers to see, but all of a sudden, it became the center of my life. When I shared the trailers with the community, the resonance was so huge that I felt quite overwhelmed, but I was also proud since filming has cost me a lot: financially and emotionally. Overall, I filmed in six countries: Germany, Malta, the U.K., the U.S., Belgium and the Netherlands. I followed each family for a few days and tried to catch their challenges as well as their strength to cope with all their EDS symptoms. Sometimes, I was too sick to film, and I would lie on the couch in the living room of my contributors, unable to move. Other times, my main subject was too exhausted to get up, and we would film them in bed. Filming chronically ill people as a disabled filmmaker came with more challenges than I could have ever imagined. Many times, my flights were canceled, or my wheelchair transport service forgot me, and I almost missed my flights. There were several instances when none of our filming plans worked out, because, as you can imagine, EDS just happened and someone ended up in the hospital for EDS related complications. It took me 14 months from starting to film to finalizing the editing process, all of which I did by myself. I just kept investing more and more time and resources as the film took over my whole life. All of the people in my film taught me so much, and I often just ignored the physical consequences a project like this had on my body. I don’t think I can ever produce a feature-length, non-profit film like this again, but I am not regretting a moment throughout the last years! A few weeks ago, I was invited to be part of the film screening at Chapman University in Orange, CA. It was the first time that I got to see the reactions of an audience while watching the film. And I did not expect people to cry because they could relate so much; because all of a sudden, they felt heard, and they could see their own stories in every one of my film’s contributors. Even though we had a pretty rough start that day, with lots of tech issues that could have easily distracted a critical audience, none of it seemed to matter after the film screening ended. I experienced a community that was just like me, and that made me feel like everything I invested in this film was more than worth it. Because together, we really aren’t invisible. We Are Visible! Follow this journey on the author’s blog. Learn more about the film here: www.we-are-visible-film.com

Karina Sturm

Why Misdiagnosis Is a Global Epidemic and What to Do About It

Nervously, Denise sat in a chair staring into her doctor’s face. Would she finally get the answers she had been hoping for throughout her whole life? “Clearly this is rheumatism!” the physician explained to Denise, who had been living with chronic pain since she was a child. The German woman and former nurse knew the diagnosis was wrong — it just did not match her lifelong symptoms — but who would believe her? For many years doctors had been telling her that she was only imagining the pain, that it was all in her head. At least this time Denise’s physician believed her. Denise was prescribed strong drugs to treat pain caused by rheumatism. Her pain did not go down; instead, Denise developed severe psychosis. It took 12 months to figure out those were side effects of the medication for a condition she never had. Over the following years, many MRI scans and other diagnostic tests were performed — all without clear results. One hot summer night her condition acutely deteriorated and she had to call an ambulance. When the emergency personnel arrived, they noticed that Denise’s body was covered in bruises — another sign of her true medical condition. Denise was used to all kinds of blue and green colors garnishing her body and could have never imagined what happened next. The medical team accused her husband of abusing her. Now, this was enough. After she had convinced the ambulance staff she was not being abused by her husband, she decided to restart her search for the right diagnosis. Twelve years and 25 doctors later, she finally found out the true cause of her condition: Ehlers-Danlos syndrome, a rare, genetic illness which she was born with. Today the 47-year-old says she has lost trust in medical professionals and fears every appointment. Denise B.; Copyright: Michael Kröning Research suggests that over 10 percent of all diagnoses are wrong [1] . This means if there are 10 people in a waiting room, at least one of them will be labeled with a wrong condition. Diagnostic errors [2] is the umbrella term that includes misdiagnoses, diagnoses that are missed altogether, wrong, or could have been made much earlier. The National Academy of Medicine in the United States concluded it is likely that every person will experience such an error at least once during their life [3]. Even though misdiagnoses seem to be a real threat to public health, insight is limited. While in the U.S. alone as many as 12 million people might become the subject of a diagnostic error each year [4], they are rarely documented. The vast majority of these are inconsequential, but given the tens of millions of diagnoses made every year, the tiny fraction that does involve harm translates into a very large aggregate number of patients harmed. In 10 percent of all patients’ deaths, an underlying diagnostic error was discovered as an additional factor [5], and it is estimated that 200,000 Americans die because of medical errors each year [6]. This equals the whole population of Salt Lake City. Another study suggests that from the 850,000 people that die in US hospitals each year, a diagnostic error contributed in at least 8 percent of deaths. Half of them could have survived with the right diagnosis [7]. However, the true extent of this problem is so hard to measure that nobody knows how high the real number is of people who have died because of misdiagnoses on a global scale. In Germany, two different entities collect data about medical malpractice claims; no governmental authority oversees medical errors. Based on their data, medical errors have not changed much over the last years. And diagnostic errors are still the second leading cause of those claims in both statistics. Between 18 and 22 percent of all claims were filed regarding diagnostic errors. And 34 to 44 percent of all confirmed medical errors led to permanent disability or death. Table 1 [8]: This table shows malpractice claims in Germany. It gives an overview of how many claims are confirmed, the total amount of diagnostic errors in relation to all claims, and shows how many Germans suffer permanent harm. Table 2 [9]: Table 2 shows more data on malpractice claims in Germany collected by a second entity. Again, it summarizes how many claims become confirmed, the number of diagnostic errors in relation to all claims, and the harm the victims endured. Analyzing these malpractice statistics is not an entirely reliable way to figure out the real number of diagnostic errors since over 55 percent of victims do not report mistakes to anyone [10]; and if they do, they might not proceed to sue. Less than 3 percent of malpractice victims go to court. Diagram 1: This diagram shows how many claims made between 2014 – 2016 were confirmed as malpractice. Diagram 2: Diagram 2 compares all claims and diagnostic error claims from 2013 with the same data from 2017. Diagnostic errors are still the leading cause for claims.   Interestingly, the UK reports around the same amount of claims as Germany. For example, in 2010/11, 13,001 claims were reported, with a peak in 2013/2014 with 16,747, and back to 14,768 in 2016/2017 [11]. Looking at Denise’s experience, one might assume patients with rare illnesses would be affected by misdiagnoses more commonly. Patients with rare conditions are certainly at risk, but surprisingly, the majority of diagnostic errors involve common conditions. A research study conducted by Dr. Gordon Schiff, a physician and patient safety advocate at Brigham and Women’s Hospital in Boston, found conditions such as lung embolism, reactions to medication, lung cancer, gastrointestinal cancer, breast cancer, stroke and many other common conditions are often not diagnosed correctly [12]. Josef was admitted to a hospital in Germany due to severe back pain and respiratory distress. One quickly-done x-ray and the doctor was certain: Josef had to have pneumonia. After five days of high dose antibiotics administered through his veins, his condition hadn’t changed. Despite this, the hospital decided to discharge him. His primary care physician remained skeptical. There were too many pieces that did not fit the diagnosis of pneumonia. Josef was ordered to have a CT-scan right away. Only seconds after the test began, people stormed into the room carrying a heart defibrillation device. Blood clots had formed everywhere in Josef’s lungs, a condition called lung embolism. The emergency crew immediately started the life-saving therapy, and he survived. Misdiagnoses may have severe consequences. A study conducted by Dr. Schiff, in which doctors reported errors they had been involved with, showed one-third of all misdiagnosed patients suffered life-threatening and deadly outcomes, or permanent disability [12], and more than 40 percent endure moderate damage. Naturally, physicians would remember the most significant errors with the most harm the best. But still, the consequences can be unbearable for the patient. As a matter of fact, misdiagnosed lung embolism, as in Josef’s case, was identified in many autopsies as a so-called class I diagnostic error [13]. These errors are defined by a major discrepancy of diagnosis, and ”knowledge before death would have led to a different management that could have prolonged survival or cured the patient [13].” Interestingly, in a study investigating patient safety in developing countries, 44 percent of patients that experienced adverse events suffered permanent disability or death [14]. The number does not differ too much from what Dr. Schiff has reported for the U.S. Josef was lucky. He only suffered a shock, and not permanent injury or death. Imagine every misdiagnosis as the leading piece in a row of dominoes. When the first one falls, a myriad of other pieces start to collapse. Just a single misdiagnosis can lead to a lifetime of suffering the consequences – not only physically, but also mentally and financially [4]. Furthermore, diagnostic errors affect national economies as well. Medical errors cost the United States $19.5 billion in 2008 [6]. Ken Perez, vice president of healthcare policy, Omnicell, Inc., estimated a total cost of $20.8 billion [15] in 2016 based on population growth, but if one applies quality-adjusted life years (QALYs) to the 250,000 who die each year from medical errors, the loss of QALY’s for those deaths is $187.5 billion to $250 billion. Wrongfully used diagnostic tests alone might cost $25 billion each year [16]. With $25 billion, the US could feed 2,437,835 families of four for one year [17]. At the same time, health-related costs are rising. ”For example, misdiagnosis caused by false-positive mammograms alone cost the U.S. four billion dollars annually,” Ken Perez said. Diagnostic errors have consequences for many areas of health economics. For instance, one-third of all malpractice suits in the U.S. are due to diagnostic errors [18]. Similar numbers have been shown in the table above for German malpractice claims. However, no other country beats the U.S. in terms of out-payment for won claims, which is one reason why physicians practice defensive medicine in the U.S., and therefore tend to overuse specific tests in order to protect themselves from becoming the subject of an expensive lawsuit. According to Perez, another reason for the excessive use of diagnostic tests might merely be accessibility to equipment, such as MRI machines and CT scans — “We have them, so we use them. And when you don’t have a definite diagnosis, you use other approaches.” On the other hand, some tests are underused to save money. Both scenarios can cause misdiagnosis and harm to the patient. And it seems to be hard to find the balance. ”We cannot just do more tests to reduce misdiagnosis. The premise here is that we have to test sufficiently,” Perez said. ”For example, let’s look at CT scans versus standard x-ray or ultrasound: A CT provides greater insight of what a patient might have, but it is also more costly. And then there is a human cost as well, because each CT scan increases the risk of cancer materially.” When it comes to diagnostic errors, there is no one-size-fits-all solution. Rana experienced the worst-case scenario. Following the misinterpretation by a few doctors, Rana experienced every mother’s nightmare. On a warm summer day in Dallas, Texas, Rana, a nurse herself, discovered that one of her 4-week-old twin daughters wasn’t moving her leg anymore. Worried, she rushed to the emergency room. Some x-rays later, her daughter was diagnosed with fractures, which led them to examine the twin sister as well. Both 4-week-olds were found to have blurry edges on the end of their bones. Suddenly, her children were removed from her care, and Rana was confronted with an accusation of child abuse. On top of this, the authorities took Rana’s 3-year-old daughter out of her care as well, and delivered the devastated children to their grandparents on the same day. Only after five months, the mysterious fractures an expert had found in both infants turned out to be caused by a genetic defect: Ehlers-Danlos syndrome in combination with vitamin D deficiency. Although the family was acquitted of all allegations and reunited, it took two more years and uncountable expert witnesses to fully prove their innocence. “We felt desperate and the worst kind of grief, apart from what we would have felt if they had died,“ Rana said of the consequences those events had on her family. “Even six years later, we suffer PTSD whenever we have a child get hurt.” Picture 2: Rana T.; Copyright: Rana T. According to EURORDIS, an organization for rare disease patients in Europe, Rana’s experience is quite common for parents of children with rare diseases [19]. As a consequence of this experience, she developed post-traumatic stress disorder and will never get back the months she missed being with her children. It is apparent that misdiagnoses are a worldwide problem, but why do all those errors occur and how can we prevent them? This question plagues scientists worldwide because there is no single common factor. According to Dr. Mark L. Graber, founder of the Society to Improve Diagnosis in Medicine, a misdiagnosis is typically caused by some combination of system or cognitive errors [20]. Dr. Graber said that common system errors include such things as breakdowns in communication or care coordination, not having experts available when you need them, lost test results or unavailable medical records at the time of the visit. Cognitive mistakes, on the other hand, might be caused by a lack of time to make a differential diagnosis, as well as antipathy for a patient resulting in the doctor giving less attention to their diagnosis. ”Not having enough time during the clinic visit” is thought to be one of the most pressing issues that leads to errors, Dr. Graber said. And most of the time it is a combination of several factors. But is this true on a global scale? Based on one study, developing countries do not experience much more misdiagnosis than the US [14] or Germany. It seems that the problem persists in completely different health systems. An autopsy study did also not show any larger differences between hospital-related misdiagnosis and deaths in different countries, although the fluctuation between two areas in one and the same country was rather large [7]. While the South Lothian District hospital in Scotland, for example, reported a 38 percent rate of significant errors between 1975 and 1977, the University of Edinburgh only stated a 15 percent rate during 1978. However, South Lothian District hospital carried out ten times the amount of autopsies and is therefore much more likely to report a higher number of errors. There is a growing movement internationally towards transparency when errors occur, including the goal of disclosing errors to the patients involved truthfully and in a timely fashion. Nonetheless, given the constant fear of malpractice suits, not to mention the desire to avoid blame and shame, many physicians are reluctant to disclose or report diagnostic errors they become aware of. But would physicians deliberately cover up their errors? In 2016, 7 percent stated they would hide a mistake that could harm the patient, and 14 percent answered with ”it depends.” If their mistake would not harm the patient, 19 percent would cover it up, and 22 percent think it depends on the circumstances, based on a Medscape report in 2014 [21]. An interesting approach to counteract this development was proposed by the Massachusetts Medical Society. They suggested a so-called “Disclosure, Apology, and Offer” system that would completely revolutionize defensive medicine. This policy encourages physicians to advocate for their patients, and fully disclose mistakes. While the patient would immediately be compensated for the error, the physician, on the other hand, would not have to fear legal consequences [22]. Receiving a wrong diagnosis can never be entirely avoided, but the patient is still not defenseless. The Society to Improve Diagnosis in Medicine [23] suggests a solution is to ”raise awareness of diagnostic error and its importance among physicians, the public, healthcare organizations and funding sources.” This among other measures could help to prevent patients from future misdiagnoses. In Denise’s opinion: ”Patients should question the doctors’ statement and not just believe them. Also, they should stay persistent and not get intimidated by physicians.” The World Health Organization agrees. However, actively participating in one’s healthcare is especially tricky for patients. Many physicians in industrialized countries don’t feel comfortable being doubted by their patients; they are high up in the hierarchy, whereas the patient is very much at the bottom [2]. The National Academy of Medicine report strongly suggested the diagnosis should be a team effort, not just the job of the doctor, but generally, it is not. Although patient empowerment is on the agenda for patient safety organizations, the question remains: Is this realistic? No, not at this point. In fact, evidence indicates that many medical doctors are not aware that they could even make a diagnostic error. They acknowledge the existence of misdiagnosis but doubt they would be the one to cause it [24]. As long as this mindset doesn’t change, diagnostic errors might not go down much in the future. “Awareness is growing, but the vast majority of doctors, hospitals, and patients remain unaware of the problem, or they are aware but haven’t taken steps to address the problem,” Dr. Graber explained. The first step in reducing diagnostic errors is being able to measure them in the first place. “It is difficult, at best, to actually measure the rate of diagnostic errors. The hospital that reports the most errors is probably the one that is the best at measurement, and may well have the best care. Hospitals that don’t care that much about safety don’t bother to measure, and so they appear to have very few errors,” Dr. Graber said. But how can we actually measure diagnostic errors? ”We need more reproducible, standardized ways of defining errors and counting them. For diagnostic errors, the best approach would be to just ask the patient if the diagnosis was correct, and was timely. Or ask doctors – they know diagnostic errors as well. The current approaches hospitals use to measure safety breakdowns don’t typically capture diagnostic errors, and for all practical purposes, there is almost no safety measurement at all in clinics,” Graber said. Perez is more in favor of using analytics to look at the outcome of treatment. He also believes that second opinions are an important tool for patients to protect themselves from misdiagnoses. ”You have to be aware of who you choose for a second opinion. It should be a doctor that does not have a vested interest and who has expertise in the area,” Perez said. Autopsies are another helpful tool to identify diagnostic errors, and represent the ”gold standard.” Unfortunately, since the 1970s, autopsy rates have steadily declined in the US. An autopsy is still performed in less than 5 percent of all hospital deaths [25]. Worldwide we can observe a similar trend which means we are not detecting possible diagnostic errors through this approach anymore [25] — at least not in patients that died because of them. In the UK, autopsies are only performed in less than 1 percent of all hospital-related deaths [26]. Researchers find that in a large fraction of autopsy cases, 10 to 40 percent depending on how discrepancies are defined, the post-mortem diagnosis differed widely from the diagnosis made while the patient was still alive. This clearly stresses the importance of autopsies as a measure to save lives by attempting to learn from cases of diagnostic errors [13]. Diagnostic errors can affect people of any age and gender, and becoming a victim of at least one misdiagnosis in life is much more likely than getting hit by a car. Denise, Josef, Rana and so many other people survived diagnostic errors because they actively participated in their healthcare. They questioned their doctor’s, fought to receive a correct diagnosis and finally succeeded. However, they will never forget the times they were misdiagnosed, and they all suffered the consequences. Every victim deserves those errors to be addressed as such; every person that has not been misdiagnosed so far needs to be protected. The first and most important step in reducing misdiagnoses is to acknowledge that they exist and to actively take responsibility for them, which means finding adequate ways to measure them. Patients need to be involved and engaged in their own healthcare. Never be afraid to ask: ”What else could this be?” Moreover, physicians need to change their mindset and let patients take an active part in the discovery of their diagnosis — as William Osler said, “Listen to the patient, and they will tell you their diagnosis.” Otherwise, we won’t stop this epidemic in the future. Sources: [1] Graber, M.L., Wachter, R.M. and Cassel, C.K., 2012. Bringing diagnosis into the quality and safety equations. Jama, 308 (12), pp.1211-1212.[2] WHO, 2016. Diagnostic Errors, Technical Series on Safer Primary Care, Available from: http://apps.who.int/iris/bitstream/handle/10665/252410/9789241511636-eng.pdf;jsessionid=0E11F88465DAF6BD6222DDA00FE6CAAB?sequence=1 [Accessed on May 30, 2018][3] Singh, H., Meyer, A.N. and Thomas, E.J., 2014. The frequency of diagnostic errors in outpatient care: estimations from three large observational studies involving US adult populations. BMJ Qual Saf, pp.bmjqs-2013.[4] Pinnacle Care. The Human Cost and Financial Impact of Misdiagnosis, 2016, Available from: https://www.pinnaclecare.com/download/Human-Cost-Financial-Impact-Whitepaper.pdf [Accessed on May 30, 2018][5] National Academies of Sciences, Engineering, and Medicine, 2016. Improving diagnosis in health care. National Academies Press. [6] Andel, C., Davidow, S.L., Hollander, M. and Moreno, D.A., 2012. The economics of health care quality and medical errors. Journal of health care finance, 39 (1), p.39.[7] Shojania, K.G., Burton, E.C., McDonald, K.M. and Goldman, L., 2003. Changes in rates of autopsy-detected diagnostic errors over time: a systematic review. Jama, 289 (21), pp.2849-2856.[8] Medizinischer Dienst des Spitzenverbandes Bund der Krankenkassen, Behandlungsfehler Jahresstatistik 2014 – 2016. Available from: https://www.mds-ev.de/richtlinien-publikationen/behandlungsfehler.html [Accessed May 30, 2018][9] Bundesärztekammer. Statistische Erhebung der Gutachterkommissionen und Schlichtungsstellen für die Statistikjahre 2013 – 2017. Available from: http://www.bundesaerztekammer.de/patienten/gutachterkommissionen-schlichtungsstellen/behandlungsfehler-statistik/ [Accessed May 30, 2018][10] Institute for Healthcare Improvement, 2017, A mericans’ Experiences with Medical Errors and Views on Patient Safety. Available from: http://www.ihi.org/about/news/Documents/IHI_NPSF_Patient_Safety_Survey_Fact_Sheets_2017.pdf [Accessed May 30, 2018][11] NHS, 2017. Annual report and accounts. NHS Resolution. Available from: https://resolution.nhs.uk/annual-report-and-accounts-201617/ [Accessed May 30, 2018][12] Schiff, G.D., Hasan, O., Kim, S., Abrams, R., Cosby, K., Lambert, B.L., Elstein, A.S., Hasler, S., Kabongo, M.L., Krosnjar, N. and Odwazny, R., 2009. Diagnostic error in medicine: analysis of 583 physician-reported errors. Archives of internal medicine, 169 (20), pp.1881-1887.[13] Aalten, C.M., Samson, M.M. and Jansen, P.A., 2006. Diagnostic errors; the need to have autopsies. Neth J Med, 64 (6), pp.186-90.[14] Wilson, R.M., Michel, P., Olsen, S., Gibberd, R.W., Vincent, C., El-Assady, R., Rasslan, O., Qsous, S., Macharia, W.M., Sahel, A. and Whittaker, S., 2012. Patient safety in developing countries: retrospective estimation of scale and nature of harm to patients in hospital. Bmj, 344, p.e832.[15] Perez, K., 2016. The Human and Economic Costs of Medical Errors, HFM Blog, Available from: https://www.hfma.org/Content.aspx?id=48695 [Accessed on May 30, 2018][16] Newman-Toker, D.E., McDonald, K.M. and Meltzer, D.O., 2013. How much diagnostic safety can we afford, and how should we decide? A health economics perspective. BMJ Qual Saf, 22 (Suppl 2), pp.ii11-ii20.[17] United States Department of Agriculture, 2014. Official USDA Food Plans: Cost of Food at Homa at Four Levels. Available from: https://www.cnpp.usda.gov/sites/default/files/usda_food_plans_cost_of_food/CostofFoodJul2014.pdf [Accessed May 30, 2018][18] Tehrani, A.S.S., Lee, H., Mathews, S.C., Shore, A., Makary, M.A., Pronovost, P.J. and Newman-Toker, D.E., 2013. 25-Year summary of US malpractice claims for diagnostic errors 1986–2010: an analysis from the National Practitioner Data Bank. BMJ Qual Saf, 22 (8), pp.672-680.[19] EURORDIS, 2014. The Voice of 12,000 patients. Experiences and Expectations of Rare Disease Patients on diagnosis and Care in Europe. Available from: https://www.eurordis.org/IMG/pdf/voice_12000_patients/EURORDISCARE_FULLBOOKr.pdf [Accessed May 30, 2018][20] Graber, M.L., Franklin, N. and Gordon, R., 2005. Diagnostic error in internal medicine. Archives of internal medicine, 165 (13), pp.1493-1499.[21] Kane, L., 2014. Medscape Ethics Report 2014: Money, Romance and Patients. Medscape. Available from: https://www.medscape.com/features/slideshow/public/ethics2014-part2 [Accessed May, 30 2018][22] Beaulieu, D., 2012. Disclosure, Apology, and Offer: A New Approach to Medical Liability. Massachusetts Medical Society. Available from: http://www.massmed.org/News-and-Publications/Vital-Signs/Back-Issues/Disclosure,-Apology-and-Offer–A-New-Approach-to-Medical-Liability/#.WyaJgS2X-u5 [Accessed May, 30 2018][23] Society to Improve Diagnosis in Medicine. Facts Improving Diagnostic Accuracy in Medicine. Available from: https://www.improvediagnosis.org/page/Facts [Accessed May 30, 2018][24] Berner, E.S. and Graber, M.L., 2008. Overconfidence as a cause of diagnostic error in medicine. The American journal of medicine, 121 (5), pp.S2-S23.[25] Burton, E. and Collins, K., 2014. Autopsy rate and physician attitudes toward autopsy. Medscape Pathol.[26] Turnbull, A., Osborn, M. and Nicholas, N., 2015. Hospital autopsy: Endangered or extinct?. Journal of clinical pathology, 68 (8), pp.601-604. Note from the author: I was personally affected by misdiagnoses in the past and suffered permanent disability because of it. I am also an activist for people with chronic and rare diseases, and therefore know some of the described patients quite well. However, having personal experiences and being closer to affected people does not cloud my judgment; it strengthens my motivation to find out more about those issues and gives me helpful insight.

Karina Sturm

Why Misdiagnosis Is a Global Epidemic and What to Do About It

Nervously, Denise sat in a chair staring into her doctor’s face. Would she finally get the answers she had been hoping for throughout her whole life? “Clearly this is rheumatism!” the physician explained to Denise, who had been living with chronic pain since she was a child. The German woman and former nurse knew the diagnosis was wrong — it just did not match her lifelong symptoms — but who would believe her? For many years doctors had been telling her that she was only imagining the pain, that it was all in her head. At least this time Denise’s physician believed her. Denise was prescribed strong drugs to treat pain caused by rheumatism. Her pain did not go down; instead, Denise developed severe psychosis. It took 12 months to figure out those were side effects of the medication for a condition she never had. Over the following years, many MRI scans and other diagnostic tests were performed — all without clear results. One hot summer night her condition acutely deteriorated and she had to call an ambulance. When the emergency personnel arrived, they noticed that Denise’s body was covered in bruises — another sign of her true medical condition. Denise was used to all kinds of blue and green colors garnishing her body and could have never imagined what happened next. The medical team accused her husband of abusing her. Now, this was enough. After she had convinced the ambulance staff she was not being abused by her husband, she decided to restart her search for the right diagnosis. Twelve years and 25 doctors later, she finally found out the true cause of her condition: Ehlers-Danlos syndrome, a rare, genetic illness which she was born with. Today the 47-year-old says she has lost trust in medical professionals and fears every appointment. Denise B.; Copyright: Michael Kröning Research suggests that over 10 percent of all diagnoses are wrong [1] . This means if there are 10 people in a waiting room, at least one of them will be labeled with a wrong condition. Diagnostic errors [2] is the umbrella term that includes misdiagnoses, diagnoses that are missed altogether, wrong, or could have been made much earlier. The National Academy of Medicine in the United States concluded it is likely that every person will experience such an error at least once during their life [3]. Even though misdiagnoses seem to be a real threat to public health, insight is limited. While in the U.S. alone as many as 12 million people might become the subject of a diagnostic error each year [4], they are rarely documented. The vast majority of these are inconsequential, but given the tens of millions of diagnoses made every year, the tiny fraction that does involve harm translates into a very large aggregate number of patients harmed. In 10 percent of all patients’ deaths, an underlying diagnostic error was discovered as an additional factor [5], and it is estimated that 200,000 Americans die because of medical errors each year [6]. This equals the whole population of Salt Lake City. Another study suggests that from the 850,000 people that die in US hospitals each year, a diagnostic error contributed in at least 8 percent of deaths. Half of them could have survived with the right diagnosis [7]. However, the true extent of this problem is so hard to measure that nobody knows how high the real number is of people who have died because of misdiagnoses on a global scale. In Germany, two different entities collect data about medical malpractice claims; no governmental authority oversees medical errors. Based on their data, medical errors have not changed much over the last years. And diagnostic errors are still the second leading cause of those claims in both statistics. Between 18 and 22 percent of all claims were filed regarding diagnostic errors. And 34 to 44 percent of all confirmed medical errors led to permanent disability or death. Table 1 [8]: This table shows malpractice claims in Germany. It gives an overview of how many claims are confirmed, the total amount of diagnostic errors in relation to all claims, and shows how many Germans suffer permanent harm. Table 2 [9]: Table 2 shows more data on malpractice claims in Germany collected by a second entity. Again, it summarizes how many claims become confirmed, the number of diagnostic errors in relation to all claims, and the harm the victims endured. Analyzing these malpractice statistics is not an entirely reliable way to figure out the real number of diagnostic errors since over 55 percent of victims do not report mistakes to anyone [10]; and if they do, they might not proceed to sue. Less than 3 percent of malpractice victims go to court. Diagram 1: This diagram shows how many claims made between 2014 – 2016 were confirmed as malpractice. Diagram 2: Diagram 2 compares all claims and diagnostic error claims from 2013 with the same data from 2017. Diagnostic errors are still the leading cause for claims.   Interestingly, the UK reports around the same amount of claims as Germany. For example, in 2010/11, 13,001 claims were reported, with a peak in 2013/2014 with 16,747, and back to 14,768 in 2016/2017 [11]. Looking at Denise’s experience, one might assume patients with rare illnesses would be affected by misdiagnoses more commonly. Patients with rare conditions are certainly at risk, but surprisingly, the majority of diagnostic errors involve common conditions. A research study conducted by Dr. Gordon Schiff, a physician and patient safety advocate at Brigham and Women’s Hospital in Boston, found conditions such as lung embolism, reactions to medication, lung cancer, gastrointestinal cancer, breast cancer, stroke and many other common conditions are often not diagnosed correctly [12]. Josef was admitted to a hospital in Germany due to severe back pain and respiratory distress. One quickly-done x-ray and the doctor was certain: Josef had to have pneumonia. After five days of high dose antibiotics administered through his veins, his condition hadn’t changed. Despite this, the hospital decided to discharge him. His primary care physician remained skeptical. There were too many pieces that did not fit the diagnosis of pneumonia. Josef was ordered to have a CT-scan right away. Only seconds after the test began, people stormed into the room carrying a heart defibrillation device. Blood clots had formed everywhere in Josef’s lungs, a condition called lung embolism. The emergency crew immediately started the life-saving therapy, and he survived. Misdiagnoses may have severe consequences. A study conducted by Dr. Schiff, in which doctors reported errors they had been involved with, showed one-third of all misdiagnosed patients suffered life-threatening and deadly outcomes, or permanent disability [12], and more than 40 percent endure moderate damage. Naturally, physicians would remember the most significant errors with the most harm the best. But still, the consequences can be unbearable for the patient. As a matter of fact, misdiagnosed lung embolism, as in Josef’s case, was identified in many autopsies as a so-called class I diagnostic error [13]. These errors are defined by a major discrepancy of diagnosis, and ”knowledge before death would have led to a different management that could have prolonged survival or cured the patient [13].” Interestingly, in a study investigating patient safety in developing countries, 44 percent of patients that experienced adverse events suffered permanent disability or death [14]. The number does not differ too much from what Dr. Schiff has reported for the U.S. Josef was lucky. He only suffered a shock, and not permanent injury or death. Imagine every misdiagnosis as the leading piece in a row of dominoes. When the first one falls, a myriad of other pieces start to collapse. Just a single misdiagnosis can lead to a lifetime of suffering the consequences – not only physically, but also mentally and financially [4]. Furthermore, diagnostic errors affect national economies as well. Medical errors cost the United States $19.5 billion in 2008 [6]. Ken Perez, vice president of healthcare policy, Omnicell, Inc., estimated a total cost of $20.8 billion [15] in 2016 based on population growth, but if one applies quality-adjusted life years (QALYs) to the 250,000 who die each year from medical errors, the loss of QALY’s for those deaths is $187.5 billion to $250 billion. Wrongfully used diagnostic tests alone might cost $25 billion each year [16]. With $25 billion, the US could feed 2,437,835 families of four for one year [17]. At the same time, health-related costs are rising. ”For example, misdiagnosis caused by false-positive mammograms alone cost the U.S. four billion dollars annually,” Ken Perez said. Diagnostic errors have consequences for many areas of health economics. For instance, one-third of all malpractice suits in the U.S. are due to diagnostic errors [18]. Similar numbers have been shown in the table above for German malpractice claims. However, no other country beats the U.S. in terms of out-payment for won claims, which is one reason why physicians practice defensive medicine in the U.S., and therefore tend to overuse specific tests in order to protect themselves from becoming the subject of an expensive lawsuit. According to Perez, another reason for the excessive use of diagnostic tests might merely be accessibility to equipment, such as MRI machines and CT scans — “We have them, so we use them. And when you don’t have a definite diagnosis, you use other approaches.” On the other hand, some tests are underused to save money. Both scenarios can cause misdiagnosis and harm to the patient. And it seems to be hard to find the balance. ”We cannot just do more tests to reduce misdiagnosis. The premise here is that we have to test sufficiently,” Perez said. ”For example, let’s look at CT scans versus standard x-ray or ultrasound: A CT provides greater insight of what a patient might have, but it is also more costly. And then there is a human cost as well, because each CT scan increases the risk of cancer materially.” When it comes to diagnostic errors, there is no one-size-fits-all solution. Rana experienced the worst-case scenario. Following the misinterpretation by a few doctors, Rana experienced every mother’s nightmare. On a warm summer day in Dallas, Texas, Rana, a nurse herself, discovered that one of her 4-week-old twin daughters wasn’t moving her leg anymore. Worried, she rushed to the emergency room. Some x-rays later, her daughter was diagnosed with fractures, which led them to examine the twin sister as well. Both 4-week-olds were found to have blurry edges on the end of their bones. Suddenly, her children were removed from her care, and Rana was confronted with an accusation of child abuse. On top of this, the authorities took Rana’s 3-year-old daughter out of her care as well, and delivered the devastated children to their grandparents on the same day. Only after five months, the mysterious fractures an expert had found in both infants turned out to be caused by a genetic defect: Ehlers-Danlos syndrome in combination with vitamin D deficiency. Although the family was acquitted of all allegations and reunited, it took two more years and uncountable expert witnesses to fully prove their innocence. “We felt desperate and the worst kind of grief, apart from what we would have felt if they had died,“ Rana said of the consequences those events had on her family. “Even six years later, we suffer PTSD whenever we have a child get hurt.” Picture 2: Rana T.; Copyright: Rana T. According to EURORDIS, an organization for rare disease patients in Europe, Rana’s experience is quite common for parents of children with rare diseases [19]. As a consequence of this experience, she developed post-traumatic stress disorder and will never get back the months she missed being with her children. It is apparent that misdiagnoses are a worldwide problem, but why do all those errors occur and how can we prevent them? This question plagues scientists worldwide because there is no single common factor. According to Dr. Mark L. Graber, founder of the Society to Improve Diagnosis in Medicine, a misdiagnosis is typically caused by some combination of system or cognitive errors [20]. Dr. Graber said that common system errors include such things as breakdowns in communication or care coordination, not having experts available when you need them, lost test results or unavailable medical records at the time of the visit. Cognitive mistakes, on the other hand, might be caused by a lack of time to make a differential diagnosis, as well as antipathy for a patient resulting in the doctor giving less attention to their diagnosis. ”Not having enough time during the clinic visit” is thought to be one of the most pressing issues that leads to errors, Dr. Graber said. And most of the time it is a combination of several factors. But is this true on a global scale? Based on one study, developing countries do not experience much more misdiagnosis than the US [14] or Germany. It seems that the problem persists in completely different health systems. An autopsy study did also not show any larger differences between hospital-related misdiagnosis and deaths in different countries, although the fluctuation between two areas in one and the same country was rather large [7]. While the South Lothian District hospital in Scotland, for example, reported a 38 percent rate of significant errors between 1975 and 1977, the University of Edinburgh only stated a 15 percent rate during 1978. However, South Lothian District hospital carried out ten times the amount of autopsies and is therefore much more likely to report a higher number of errors. There is a growing movement internationally towards transparency when errors occur, including the goal of disclosing errors to the patients involved truthfully and in a timely fashion. Nonetheless, given the constant fear of malpractice suits, not to mention the desire to avoid blame and shame, many physicians are reluctant to disclose or report diagnostic errors they become aware of. But would physicians deliberately cover up their errors? In 2016, 7 percent stated they would hide a mistake that could harm the patient, and 14 percent answered with ”it depends.” If their mistake would not harm the patient, 19 percent would cover it up, and 22 percent think it depends on the circumstances, based on a Medscape report in 2014 [21]. An interesting approach to counteract this development was proposed by the Massachusetts Medical Society. They suggested a so-called “Disclosure, Apology, and Offer” system that would completely revolutionize defensive medicine. This policy encourages physicians to advocate for their patients, and fully disclose mistakes. While the patient would immediately be compensated for the error, the physician, on the other hand, would not have to fear legal consequences [22]. Receiving a wrong diagnosis can never be entirely avoided, but the patient is still not defenseless. The Society to Improve Diagnosis in Medicine [23] suggests a solution is to ”raise awareness of diagnostic error and its importance among physicians, the public, healthcare organizations and funding sources.” This among other measures could help to prevent patients from future misdiagnoses. In Denise’s opinion: ”Patients should question the doctors’ statement and not just believe them. Also, they should stay persistent and not get intimidated by physicians.” The World Health Organization agrees. However, actively participating in one’s healthcare is especially tricky for patients. Many physicians in industrialized countries don’t feel comfortable being doubted by their patients; they are high up in the hierarchy, whereas the patient is very much at the bottom [2]. The National Academy of Medicine report strongly suggested the diagnosis should be a team effort, not just the job of the doctor, but generally, it is not. Although patient empowerment is on the agenda for patient safety organizations, the question remains: Is this realistic? No, not at this point. In fact, evidence indicates that many medical doctors are not aware that they could even make a diagnostic error. They acknowledge the existence of misdiagnosis but doubt they would be the one to cause it [24]. As long as this mindset doesn’t change, diagnostic errors might not go down much in the future. “Awareness is growing, but the vast majority of doctors, hospitals, and patients remain unaware of the problem, or they are aware but haven’t taken steps to address the problem,” Dr. Graber explained. The first step in reducing diagnostic errors is being able to measure them in the first place. “It is difficult, at best, to actually measure the rate of diagnostic errors. The hospital that reports the most errors is probably the one that is the best at measurement, and may well have the best care. Hospitals that don’t care that much about safety don’t bother to measure, and so they appear to have very few errors,” Dr. Graber said. But how can we actually measure diagnostic errors? ”We need more reproducible, standardized ways of defining errors and counting them. For diagnostic errors, the best approach would be to just ask the patient if the diagnosis was correct, and was timely. Or ask doctors – they know diagnostic errors as well. The current approaches hospitals use to measure safety breakdowns don’t typically capture diagnostic errors, and for all practical purposes, there is almost no safety measurement at all in clinics,” Graber said. Perez is more in favor of using analytics to look at the outcome of treatment. He also believes that second opinions are an important tool for patients to protect themselves from misdiagnoses. ”You have to be aware of who you choose for a second opinion. It should be a doctor that does not have a vested interest and who has expertise in the area,” Perez said. Autopsies are another helpful tool to identify diagnostic errors, and represent the ”gold standard.” Unfortunately, since the 1970s, autopsy rates have steadily declined in the US. An autopsy is still performed in less than 5 percent of all hospital deaths [25]. Worldwide we can observe a similar trend which means we are not detecting possible diagnostic errors through this approach anymore [25] — at least not in patients that died because of them. In the UK, autopsies are only performed in less than 1 percent of all hospital-related deaths [26]. Researchers find that in a large fraction of autopsy cases, 10 to 40 percent depending on how discrepancies are defined, the post-mortem diagnosis differed widely from the diagnosis made while the patient was still alive. This clearly stresses the importance of autopsies as a measure to save lives by attempting to learn from cases of diagnostic errors [13]. Diagnostic errors can affect people of any age and gender, and becoming a victim of at least one misdiagnosis in life is much more likely than getting hit by a car. Denise, Josef, Rana and so many other people survived diagnostic errors because they actively participated in their healthcare. They questioned their doctor’s, fought to receive a correct diagnosis and finally succeeded. However, they will never forget the times they were misdiagnosed, and they all suffered the consequences. Every victim deserves those errors to be addressed as such; every person that has not been misdiagnosed so far needs to be protected. The first and most important step in reducing misdiagnoses is to acknowledge that they exist and to actively take responsibility for them, which means finding adequate ways to measure them. Patients need to be involved and engaged in their own healthcare. Never be afraid to ask: ”What else could this be?” Moreover, physicians need to change their mindset and let patients take an active part in the discovery of their diagnosis — as William Osler said, “Listen to the patient, and they will tell you their diagnosis.” Otherwise, we won’t stop this epidemic in the future. Sources: [1] Graber, M.L., Wachter, R.M. and Cassel, C.K., 2012. Bringing diagnosis into the quality and safety equations. Jama, 308 (12), pp.1211-1212.[2] WHO, 2016. Diagnostic Errors, Technical Series on Safer Primary Care, Available from: http://apps.who.int/iris/bitstream/handle/10665/252410/9789241511636-eng.pdf;jsessionid=0E11F88465DAF6BD6222DDA00FE6CAAB?sequence=1 [Accessed on May 30, 2018][3] Singh, H., Meyer, A.N. and Thomas, E.J., 2014. The frequency of diagnostic errors in outpatient care: estimations from three large observational studies involving US adult populations. BMJ Qual Saf, pp.bmjqs-2013.[4] Pinnacle Care. The Human Cost and Financial Impact of Misdiagnosis, 2016, Available from: https://www.pinnaclecare.com/download/Human-Cost-Financial-Impact-Whitepaper.pdf [Accessed on May 30, 2018][5] National Academies of Sciences, Engineering, and Medicine, 2016. Improving diagnosis in health care. National Academies Press. [6] Andel, C., Davidow, S.L., Hollander, M. and Moreno, D.A., 2012. The economics of health care quality and medical errors. Journal of health care finance, 39 (1), p.39.[7] Shojania, K.G., Burton, E.C., McDonald, K.M. and Goldman, L., 2003. Changes in rates of autopsy-detected diagnostic errors over time: a systematic review. Jama, 289 (21), pp.2849-2856.[8] Medizinischer Dienst des Spitzenverbandes Bund der Krankenkassen, Behandlungsfehler Jahresstatistik 2014 – 2016. Available from: https://www.mds-ev.de/richtlinien-publikationen/behandlungsfehler.html [Accessed May 30, 2018][9] Bundesärztekammer. Statistische Erhebung der Gutachterkommissionen und Schlichtungsstellen für die Statistikjahre 2013 – 2017. Available from: http://www.bundesaerztekammer.de/patienten/gutachterkommissionen-schlichtungsstellen/behandlungsfehler-statistik/ [Accessed May 30, 2018][10] Institute for Healthcare Improvement, 2017, A mericans’ Experiences with Medical Errors and Views on Patient Safety. Available from: http://www.ihi.org/about/news/Documents/IHI_NPSF_Patient_Safety_Survey_Fact_Sheets_2017.pdf [Accessed May 30, 2018][11] NHS, 2017. Annual report and accounts. NHS Resolution. Available from: https://resolution.nhs.uk/annual-report-and-accounts-201617/ [Accessed May 30, 2018][12] Schiff, G.D., Hasan, O., Kim, S., Abrams, R., Cosby, K., Lambert, B.L., Elstein, A.S., Hasler, S., Kabongo, M.L., Krosnjar, N. and Odwazny, R., 2009. Diagnostic error in medicine: analysis of 583 physician-reported errors. Archives of internal medicine, 169 (20), pp.1881-1887.[13] Aalten, C.M., Samson, M.M. and Jansen, P.A., 2006. Diagnostic errors; the need to have autopsies. Neth J Med, 64 (6), pp.186-90.[14] Wilson, R.M., Michel, P., Olsen, S., Gibberd, R.W., Vincent, C., El-Assady, R., Rasslan, O., Qsous, S., Macharia, W.M., Sahel, A. and Whittaker, S., 2012. Patient safety in developing countries: retrospective estimation of scale and nature of harm to patients in hospital. Bmj, 344, p.e832.[15] Perez, K., 2016. The Human and Economic Costs of Medical Errors, HFM Blog, Available from: https://www.hfma.org/Content.aspx?id=48695 [Accessed on May 30, 2018][16] Newman-Toker, D.E., McDonald, K.M. and Meltzer, D.O., 2013. How much diagnostic safety can we afford, and how should we decide? A health economics perspective. BMJ Qual Saf, 22 (Suppl 2), pp.ii11-ii20.[17] United States Department of Agriculture, 2014. Official USDA Food Plans: Cost of Food at Homa at Four Levels. Available from: https://www.cnpp.usda.gov/sites/default/files/usda_food_plans_cost_of_food/CostofFoodJul2014.pdf [Accessed May 30, 2018][18] Tehrani, A.S.S., Lee, H., Mathews, S.C., Shore, A., Makary, M.A., Pronovost, P.J. and Newman-Toker, D.E., 2013. 25-Year summary of US malpractice claims for diagnostic errors 1986–2010: an analysis from the National Practitioner Data Bank. BMJ Qual Saf, 22 (8), pp.672-680.[19] EURORDIS, 2014. The Voice of 12,000 patients. Experiences and Expectations of Rare Disease Patients on diagnosis and Care in Europe. Available from: https://www.eurordis.org/IMG/pdf/voice_12000_patients/EURORDISCARE_FULLBOOKr.pdf [Accessed May 30, 2018][20] Graber, M.L., Franklin, N. and Gordon, R., 2005. Diagnostic error in internal medicine. Archives of internal medicine, 165 (13), pp.1493-1499.[21] Kane, L., 2014. Medscape Ethics Report 2014: Money, Romance and Patients. Medscape. Available from: https://www.medscape.com/features/slideshow/public/ethics2014-part2 [Accessed May, 30 2018][22] Beaulieu, D., 2012. Disclosure, Apology, and Offer: A New Approach to Medical Liability. Massachusetts Medical Society. Available from: http://www.massmed.org/News-and-Publications/Vital-Signs/Back-Issues/Disclosure,-Apology-and-Offer–A-New-Approach-to-Medical-Liability/#.WyaJgS2X-u5 [Accessed May, 30 2018][23] Society to Improve Diagnosis in Medicine. Facts Improving Diagnostic Accuracy in Medicine. Available from: https://www.improvediagnosis.org/page/Facts [Accessed May 30, 2018][24] Berner, E.S. and Graber, M.L., 2008. Overconfidence as a cause of diagnostic error in medicine. The American journal of medicine, 121 (5), pp.S2-S23.[25] Burton, E. and Collins, K., 2014. Autopsy rate and physician attitudes toward autopsy. Medscape Pathol.[26] Turnbull, A., Osborn, M. and Nicholas, N., 2015. Hospital autopsy: Endangered or extinct?. Journal of clinical pathology, 68 (8), pp.601-604. Note from the author: I was personally affected by misdiagnoses in the past and suffered permanent disability because of it. I am also an activist for people with chronic and rare diseases, and therefore know some of the described patients quite well. However, having personal experiences and being closer to affected people does not cloud my judgment; it strengthens my motivation to find out more about those issues and gives me helpful insight.

Karina Sturm

Why Misdiagnosis Is a Global Epidemic and What to Do About It

Nervously, Denise sat in a chair staring into her doctor’s face. Would she finally get the answers she had been hoping for throughout her whole life? “Clearly this is rheumatism!” the physician explained to Denise, who had been living with chronic pain since she was a child. The German woman and former nurse knew the diagnosis was wrong — it just did not match her lifelong symptoms — but who would believe her? For many years doctors had been telling her that she was only imagining the pain, that it was all in her head. At least this time Denise’s physician believed her. Denise was prescribed strong drugs to treat pain caused by rheumatism. Her pain did not go down; instead, Denise developed severe psychosis. It took 12 months to figure out those were side effects of the medication for a condition she never had. Over the following years, many MRI scans and other diagnostic tests were performed — all without clear results. One hot summer night her condition acutely deteriorated and she had to call an ambulance. When the emergency personnel arrived, they noticed that Denise’s body was covered in bruises — another sign of her true medical condition. Denise was used to all kinds of blue and green colors garnishing her body and could have never imagined what happened next. The medical team accused her husband of abusing her. Now, this was enough. After she had convinced the ambulance staff she was not being abused by her husband, she decided to restart her search for the right diagnosis. Twelve years and 25 doctors later, she finally found out the true cause of her condition: Ehlers-Danlos syndrome, a rare, genetic illness which she was born with. Today the 47-year-old says she has lost trust in medical professionals and fears every appointment. Denise B.; Copyright: Michael Kröning Research suggests that over 10 percent of all diagnoses are wrong [1] . This means if there are 10 people in a waiting room, at least one of them will be labeled with a wrong condition. Diagnostic errors [2] is the umbrella term that includes misdiagnoses, diagnoses that are missed altogether, wrong, or could have been made much earlier. The National Academy of Medicine in the United States concluded it is likely that every person will experience such an error at least once during their life [3]. Even though misdiagnoses seem to be a real threat to public health, insight is limited. While in the U.S. alone as many as 12 million people might become the subject of a diagnostic error each year [4], they are rarely documented. The vast majority of these are inconsequential, but given the tens of millions of diagnoses made every year, the tiny fraction that does involve harm translates into a very large aggregate number of patients harmed. In 10 percent of all patients’ deaths, an underlying diagnostic error was discovered as an additional factor [5], and it is estimated that 200,000 Americans die because of medical errors each year [6]. This equals the whole population of Salt Lake City. Another study suggests that from the 850,000 people that die in US hospitals each year, a diagnostic error contributed in at least 8 percent of deaths. Half of them could have survived with the right diagnosis [7]. However, the true extent of this problem is so hard to measure that nobody knows how high the real number is of people who have died because of misdiagnoses on a global scale. In Germany, two different entities collect data about medical malpractice claims; no governmental authority oversees medical errors. Based on their data, medical errors have not changed much over the last years. And diagnostic errors are still the second leading cause of those claims in both statistics. Between 18 and 22 percent of all claims were filed regarding diagnostic errors. And 34 to 44 percent of all confirmed medical errors led to permanent disability or death. Table 1 [8]: This table shows malpractice claims in Germany. It gives an overview of how many claims are confirmed, the total amount of diagnostic errors in relation to all claims, and shows how many Germans suffer permanent harm. Table 2 [9]: Table 2 shows more data on malpractice claims in Germany collected by a second entity. Again, it summarizes how many claims become confirmed, the number of diagnostic errors in relation to all claims, and the harm the victims endured. Analyzing these malpractice statistics is not an entirely reliable way to figure out the real number of diagnostic errors since over 55 percent of victims do not report mistakes to anyone [10]; and if they do, they might not proceed to sue. Less than 3 percent of malpractice victims go to court. Diagram 1: This diagram shows how many claims made between 2014 – 2016 were confirmed as malpractice. Diagram 2: Diagram 2 compares all claims and diagnostic error claims from 2013 with the same data from 2017. Diagnostic errors are still the leading cause for claims.   Interestingly, the UK reports around the same amount of claims as Germany. For example, in 2010/11, 13,001 claims were reported, with a peak in 2013/2014 with 16,747, and back to 14,768 in 2016/2017 [11]. Looking at Denise’s experience, one might assume patients with rare illnesses would be affected by misdiagnoses more commonly. Patients with rare conditions are certainly at risk, but surprisingly, the majority of diagnostic errors involve common conditions. A research study conducted by Dr. Gordon Schiff, a physician and patient safety advocate at Brigham and Women’s Hospital in Boston, found conditions such as lung embolism, reactions to medication, lung cancer, gastrointestinal cancer, breast cancer, stroke and many other common conditions are often not diagnosed correctly [12]. Josef was admitted to a hospital in Germany due to severe back pain and respiratory distress. One quickly-done x-ray and the doctor was certain: Josef had to have pneumonia. After five days of high dose antibiotics administered through his veins, his condition hadn’t changed. Despite this, the hospital decided to discharge him. His primary care physician remained skeptical. There were too many pieces that did not fit the diagnosis of pneumonia. Josef was ordered to have a CT-scan right away. Only seconds after the test began, people stormed into the room carrying a heart defibrillation device. Blood clots had formed everywhere in Josef’s lungs, a condition called lung embolism. The emergency crew immediately started the life-saving therapy, and he survived. Misdiagnoses may have severe consequences. A study conducted by Dr. Schiff, in which doctors reported errors they had been involved with, showed one-third of all misdiagnosed patients suffered life-threatening and deadly outcomes, or permanent disability [12], and more than 40 percent endure moderate damage. Naturally, physicians would remember the most significant errors with the most harm the best. But still, the consequences can be unbearable for the patient. As a matter of fact, misdiagnosed lung embolism, as in Josef’s case, was identified in many autopsies as a so-called class I diagnostic error [13]. These errors are defined by a major discrepancy of diagnosis, and ”knowledge before death would have led to a different management that could have prolonged survival or cured the patient [13].” Interestingly, in a study investigating patient safety in developing countries, 44 percent of patients that experienced adverse events suffered permanent disability or death [14]. The number does not differ too much from what Dr. Schiff has reported for the U.S. Josef was lucky. He only suffered a shock, and not permanent injury or death. Imagine every misdiagnosis as the leading piece in a row of dominoes. When the first one falls, a myriad of other pieces start to collapse. Just a single misdiagnosis can lead to a lifetime of suffering the consequences – not only physically, but also mentally and financially [4]. Furthermore, diagnostic errors affect national economies as well. Medical errors cost the United States $19.5 billion in 2008 [6]. Ken Perez, vice president of healthcare policy, Omnicell, Inc., estimated a total cost of $20.8 billion [15] in 2016 based on population growth, but if one applies quality-adjusted life years (QALYs) to the 250,000 who die each year from medical errors, the loss of QALY’s for those deaths is $187.5 billion to $250 billion. Wrongfully used diagnostic tests alone might cost $25 billion each year [16]. With $25 billion, the US could feed 2,437,835 families of four for one year [17]. At the same time, health-related costs are rising. ”For example, misdiagnosis caused by false-positive mammograms alone cost the U.S. four billion dollars annually,” Ken Perez said. Diagnostic errors have consequences for many areas of health economics. For instance, one-third of all malpractice suits in the U.S. are due to diagnostic errors [18]. Similar numbers have been shown in the table above for German malpractice claims. However, no other country beats the U.S. in terms of out-payment for won claims, which is one reason why physicians practice defensive medicine in the U.S., and therefore tend to overuse specific tests in order to protect themselves from becoming the subject of an expensive lawsuit. According to Perez, another reason for the excessive use of diagnostic tests might merely be accessibility to equipment, such as MRI machines and CT scans — “We have them, so we use them. And when you don’t have a definite diagnosis, you use other approaches.” On the other hand, some tests are underused to save money. Both scenarios can cause misdiagnosis and harm to the patient. And it seems to be hard to find the balance. ”We cannot just do more tests to reduce misdiagnosis. The premise here is that we have to test sufficiently,” Perez said. ”For example, let’s look at CT scans versus standard x-ray or ultrasound: A CT provides greater insight of what a patient might have, but it is also more costly. And then there is a human cost as well, because each CT scan increases the risk of cancer materially.” When it comes to diagnostic errors, there is no one-size-fits-all solution. Rana experienced the worst-case scenario. Following the misinterpretation by a few doctors, Rana experienced every mother’s nightmare. On a warm summer day in Dallas, Texas, Rana, a nurse herself, discovered that one of her 4-week-old twin daughters wasn’t moving her leg anymore. Worried, she rushed to the emergency room. Some x-rays later, her daughter was diagnosed with fractures, which led them to examine the twin sister as well. Both 4-week-olds were found to have blurry edges on the end of their bones. Suddenly, her children were removed from her care, and Rana was confronted with an accusation of child abuse. On top of this, the authorities took Rana’s 3-year-old daughter out of her care as well, and delivered the devastated children to their grandparents on the same day. Only after five months, the mysterious fractures an expert had found in both infants turned out to be caused by a genetic defect: Ehlers-Danlos syndrome in combination with vitamin D deficiency. Although the family was acquitted of all allegations and reunited, it took two more years and uncountable expert witnesses to fully prove their innocence. “We felt desperate and the worst kind of grief, apart from what we would have felt if they had died,“ Rana said of the consequences those events had on her family. “Even six years later, we suffer PTSD whenever we have a child get hurt.” Picture 2: Rana T.; Copyright: Rana T. According to EURORDIS, an organization for rare disease patients in Europe, Rana’s experience is quite common for parents of children with rare diseases [19]. As a consequence of this experience, she developed post-traumatic stress disorder and will never get back the months she missed being with her children. It is apparent that misdiagnoses are a worldwide problem, but why do all those errors occur and how can we prevent them? This question plagues scientists worldwide because there is no single common factor. According to Dr. Mark L. Graber, founder of the Society to Improve Diagnosis in Medicine, a misdiagnosis is typically caused by some combination of system or cognitive errors [20]. Dr. Graber said that common system errors include such things as breakdowns in communication or care coordination, not having experts available when you need them, lost test results or unavailable medical records at the time of the visit. Cognitive mistakes, on the other hand, might be caused by a lack of time to make a differential diagnosis, as well as antipathy for a patient resulting in the doctor giving less attention to their diagnosis. ”Not having enough time during the clinic visit” is thought to be one of the most pressing issues that leads to errors, Dr. Graber said. And most of the time it is a combination of several factors. But is this true on a global scale? Based on one study, developing countries do not experience much more misdiagnosis than the US [14] or Germany. It seems that the problem persists in completely different health systems. An autopsy study did also not show any larger differences between hospital-related misdiagnosis and deaths in different countries, although the fluctuation between two areas in one and the same country was rather large [7]. While the South Lothian District hospital in Scotland, for example, reported a 38 percent rate of significant errors between 1975 and 1977, the University of Edinburgh only stated a 15 percent rate during 1978. However, South Lothian District hospital carried out ten times the amount of autopsies and is therefore much more likely to report a higher number of errors. There is a growing movement internationally towards transparency when errors occur, including the goal of disclosing errors to the patients involved truthfully and in a timely fashion. Nonetheless, given the constant fear of malpractice suits, not to mention the desire to avoid blame and shame, many physicians are reluctant to disclose or report diagnostic errors they become aware of. But would physicians deliberately cover up their errors? In 2016, 7 percent stated they would hide a mistake that could harm the patient, and 14 percent answered with ”it depends.” If their mistake would not harm the patient, 19 percent would cover it up, and 22 percent think it depends on the circumstances, based on a Medscape report in 2014 [21]. An interesting approach to counteract this development was proposed by the Massachusetts Medical Society. They suggested a so-called “Disclosure, Apology, and Offer” system that would completely revolutionize defensive medicine. This policy encourages physicians to advocate for their patients, and fully disclose mistakes. While the patient would immediately be compensated for the error, the physician, on the other hand, would not have to fear legal consequences [22]. Receiving a wrong diagnosis can never be entirely avoided, but the patient is still not defenseless. The Society to Improve Diagnosis in Medicine [23] suggests a solution is to ”raise awareness of diagnostic error and its importance among physicians, the public, healthcare organizations and funding sources.” This among other measures could help to prevent patients from future misdiagnoses. In Denise’s opinion: ”Patients should question the doctors’ statement and not just believe them. Also, they should stay persistent and not get intimidated by physicians.” The World Health Organization agrees. However, actively participating in one’s healthcare is especially tricky for patients. Many physicians in industrialized countries don’t feel comfortable being doubted by their patients; they are high up in the hierarchy, whereas the patient is very much at the bottom [2]. The National Academy of Medicine report strongly suggested the diagnosis should be a team effort, not just the job of the doctor, but generally, it is not. Although patient empowerment is on the agenda for patient safety organizations, the question remains: Is this realistic? No, not at this point. In fact, evidence indicates that many medical doctors are not aware that they could even make a diagnostic error. They acknowledge the existence of misdiagnosis but doubt they would be the one to cause it [24]. As long as this mindset doesn’t change, diagnostic errors might not go down much in the future. “Awareness is growing, but the vast majority of doctors, hospitals, and patients remain unaware of the problem, or they are aware but haven’t taken steps to address the problem,” Dr. Graber explained. The first step in reducing diagnostic errors is being able to measure them in the first place. “It is difficult, at best, to actually measure the rate of diagnostic errors. The hospital that reports the most errors is probably the one that is the best at measurement, and may well have the best care. Hospitals that don’t care that much about safety don’t bother to measure, and so they appear to have very few errors,” Dr. Graber said. But how can we actually measure diagnostic errors? ”We need more reproducible, standardized ways of defining errors and counting them. For diagnostic errors, the best approach would be to just ask the patient if the diagnosis was correct, and was timely. Or ask doctors – they know diagnostic errors as well. The current approaches hospitals use to measure safety breakdowns don’t typically capture diagnostic errors, and for all practical purposes, there is almost no safety measurement at all in clinics,” Graber said. Perez is more in favor of using analytics to look at the outcome of treatment. He also believes that second opinions are an important tool for patients to protect themselves from misdiagnoses. ”You have to be aware of who you choose for a second opinion. It should be a doctor that does not have a vested interest and who has expertise in the area,” Perez said. Autopsies are another helpful tool to identify diagnostic errors, and represent the ”gold standard.” Unfortunately, since the 1970s, autopsy rates have steadily declined in the US. An autopsy is still performed in less than 5 percent of all hospital deaths [25]. Worldwide we can observe a similar trend which means we are not detecting possible diagnostic errors through this approach anymore [25] — at least not in patients that died because of them. In the UK, autopsies are only performed in less than 1 percent of all hospital-related deaths [26]. Researchers find that in a large fraction of autopsy cases, 10 to 40 percent depending on how discrepancies are defined, the post-mortem diagnosis differed widely from the diagnosis made while the patient was still alive. This clearly stresses the importance of autopsies as a measure to save lives by attempting to learn from cases of diagnostic errors [13]. Diagnostic errors can affect people of any age and gender, and becoming a victim of at least one misdiagnosis in life is much more likely than getting hit by a car. Denise, Josef, Rana and so many other people survived diagnostic errors because they actively participated in their healthcare. They questioned their doctor’s, fought to receive a correct diagnosis and finally succeeded. However, they will never forget the times they were misdiagnosed, and they all suffered the consequences. Every victim deserves those errors to be addressed as such; every person that has not been misdiagnosed so far needs to be protected. The first and most important step in reducing misdiagnoses is to acknowledge that they exist and to actively take responsibility for them, which means finding adequate ways to measure them. Patients need to be involved and engaged in their own healthcare. Never be afraid to ask: ”What else could this be?” Moreover, physicians need to change their mindset and let patients take an active part in the discovery of their diagnosis — as William Osler said, “Listen to the patient, and they will tell you their diagnosis.” Otherwise, we won’t stop this epidemic in the future. Sources: [1] Graber, M.L., Wachter, R.M. and Cassel, C.K., 2012. Bringing diagnosis into the quality and safety equations. Jama, 308 (12), pp.1211-1212.[2] WHO, 2016. Diagnostic Errors, Technical Series on Safer Primary Care, Available from: http://apps.who.int/iris/bitstream/handle/10665/252410/9789241511636-eng.pdf;jsessionid=0E11F88465DAF6BD6222DDA00FE6CAAB?sequence=1 [Accessed on May 30, 2018][3] Singh, H., Meyer, A.N. and Thomas, E.J., 2014. The frequency of diagnostic errors in outpatient care: estimations from three large observational studies involving US adult populations. BMJ Qual Saf, pp.bmjqs-2013.[4] Pinnacle Care. The Human Cost and Financial Impact of Misdiagnosis, 2016, Available from: https://www.pinnaclecare.com/download/Human-Cost-Financial-Impact-Whitepaper.pdf [Accessed on May 30, 2018][5] National Academies of Sciences, Engineering, and Medicine, 2016. Improving diagnosis in health care. National Academies Press. [6] Andel, C., Davidow, S.L., Hollander, M. and Moreno, D.A., 2012. The economics of health care quality and medical errors. Journal of health care finance, 39 (1), p.39.[7] Shojania, K.G., Burton, E.C., McDonald, K.M. and Goldman, L., 2003. Changes in rates of autopsy-detected diagnostic errors over time: a systematic review. Jama, 289 (21), pp.2849-2856.[8] Medizinischer Dienst des Spitzenverbandes Bund der Krankenkassen, Behandlungsfehler Jahresstatistik 2014 – 2016. Available from: https://www.mds-ev.de/richtlinien-publikationen/behandlungsfehler.html [Accessed May 30, 2018][9] Bundesärztekammer. Statistische Erhebung der Gutachterkommissionen und Schlichtungsstellen für die Statistikjahre 2013 – 2017. Available from: http://www.bundesaerztekammer.de/patienten/gutachterkommissionen-schlichtungsstellen/behandlungsfehler-statistik/ [Accessed May 30, 2018][10] Institute for Healthcare Improvement, 2017, A mericans’ Experiences with Medical Errors and Views on Patient Safety. Available from: http://www.ihi.org/about/news/Documents/IHI_NPSF_Patient_Safety_Survey_Fact_Sheets_2017.pdf [Accessed May 30, 2018][11] NHS, 2017. Annual report and accounts. NHS Resolution. Available from: https://resolution.nhs.uk/annual-report-and-accounts-201617/ [Accessed May 30, 2018][12] Schiff, G.D., Hasan, O., Kim, S., Abrams, R., Cosby, K., Lambert, B.L., Elstein, A.S., Hasler, S., Kabongo, M.L., Krosnjar, N. and Odwazny, R., 2009. Diagnostic error in medicine: analysis of 583 physician-reported errors. Archives of internal medicine, 169 (20), pp.1881-1887.[13] Aalten, C.M., Samson, M.M. and Jansen, P.A., 2006. Diagnostic errors; the need to have autopsies. Neth J Med, 64 (6), pp.186-90.[14] Wilson, R.M., Michel, P., Olsen, S., Gibberd, R.W., Vincent, C., El-Assady, R., Rasslan, O., Qsous, S., Macharia, W.M., Sahel, A. and Whittaker, S., 2012. Patient safety in developing countries: retrospective estimation of scale and nature of harm to patients in hospital. Bmj, 344, p.e832.[15] Perez, K., 2016. The Human and Economic Costs of Medical Errors, HFM Blog, Available from: https://www.hfma.org/Content.aspx?id=48695 [Accessed on May 30, 2018][16] Newman-Toker, D.E., McDonald, K.M. and Meltzer, D.O., 2013. How much diagnostic safety can we afford, and how should we decide? A health economics perspective. BMJ Qual Saf, 22 (Suppl 2), pp.ii11-ii20.[17] United States Department of Agriculture, 2014. Official USDA Food Plans: Cost of Food at Homa at Four Levels. Available from: https://www.cnpp.usda.gov/sites/default/files/usda_food_plans_cost_of_food/CostofFoodJul2014.pdf [Accessed May 30, 2018][18] Tehrani, A.S.S., Lee, H., Mathews, S.C., Shore, A., Makary, M.A., Pronovost, P.J. and Newman-Toker, D.E., 2013. 25-Year summary of US malpractice claims for diagnostic errors 1986–2010: an analysis from the National Practitioner Data Bank. BMJ Qual Saf, 22 (8), pp.672-680.[19] EURORDIS, 2014. The Voice of 12,000 patients. Experiences and Expectations of Rare Disease Patients on diagnosis and Care in Europe. Available from: https://www.eurordis.org/IMG/pdf/voice_12000_patients/EURORDISCARE_FULLBOOKr.pdf [Accessed May 30, 2018][20] Graber, M.L., Franklin, N. and Gordon, R., 2005. Diagnostic error in internal medicine. Archives of internal medicine, 165 (13), pp.1493-1499.[21] Kane, L., 2014. Medscape Ethics Report 2014: Money, Romance and Patients. Medscape. Available from: https://www.medscape.com/features/slideshow/public/ethics2014-part2 [Accessed May, 30 2018][22] Beaulieu, D., 2012. Disclosure, Apology, and Offer: A New Approach to Medical Liability. Massachusetts Medical Society. Available from: http://www.massmed.org/News-and-Publications/Vital-Signs/Back-Issues/Disclosure,-Apology-and-Offer–A-New-Approach-to-Medical-Liability/#.WyaJgS2X-u5 [Accessed May, 30 2018][23] Society to Improve Diagnosis in Medicine. Facts Improving Diagnostic Accuracy in Medicine. Available from: https://www.improvediagnosis.org/page/Facts [Accessed May 30, 2018][24] Berner, E.S. and Graber, M.L., 2008. Overconfidence as a cause of diagnostic error in medicine. The American journal of medicine, 121 (5), pp.S2-S23.[25] Burton, E. and Collins, K., 2014. Autopsy rate and physician attitudes toward autopsy. Medscape Pathol.[26] Turnbull, A., Osborn, M. and Nicholas, N., 2015. Hospital autopsy: Endangered or extinct?. Journal of clinical pathology, 68 (8), pp.601-604. Note from the author: I was personally affected by misdiagnoses in the past and suffered permanent disability because of it. I am also an activist for people with chronic and rare diseases, and therefore know some of the described patients quite well. However, having personal experiences and being closer to affected people does not cloud my judgment; it strengthens my motivation to find out more about those issues and gives me helpful insight.

Karina Sturm

18 Gift Ideas for People Living With Ehlers-Danlos Syndrome

Living with a chronic illness such as Ehlers-Danlos syndrome (EDS) often means spending significant portions of your income for medical devices, medication and doctors appointments, which makes gift-giving occasions like birthdays and the holiday season a particularly helpful time. With the right ideas, our family and friends can help us to live a better life with Ehlers-Danlos syndrome by buying products that we truly need and may not be able to get ourselves. Presents that relieve our pain for a moment, distract us from being chronically ill, or help us to receive a brace, wheelchair or device we could otherwise not afford might mean the world to us. The Mighty hopes by sharing this collection of gift ideas by our community, loved ones of people with Ehlers-Danlos syndrome will get some ideas for gifts that are both helpful and fun. Here are the gifts our community would love to get: 1. Cards and Letters “Something that makes me know they are thinking about me. So often we feel alone,” Crystal A. said. Buy the the Christmas cards above for $13.75 from Amazon. 2. Pillows and Blankets   Alexandra E. suggested a heated blanket. “My mom is getting me a weighted blanket and a new U-shaped body pillow,” Jayne F. said. Buy the weighted blanket above for $52.99 from Amazon. Buy the U-shaped pillow above for $54.59 from Amazon. If you want to read more about pillows, look at these 27 pillows and 14 alternative pillows that help people with chronic pain sleep better. 3. Items That Facilitate EDS Education and Advocacy Heidi J. wishes to get tickets to the EDS Society’s learning conference next year. “I got this [pictured below] from my mum for my birthday! Having EDS, I need to know exactly what’s happening inside of myself so that I can convey it as technically as possible to the doctor. It’s hard being your own best advocate, but knowledge is power when you are chronically ill. I have now asked for more of these diagrams as future gifts,” Megan L. said. You can buy tickets for the upcoming conferences on the website of the Ehlers-Danlos Society. 4. Comfortable Clothes “Some thick fuzzy socks from TJ Maxx or Marshals! I have postural orthostatic tachycardia syndrome (POTS) because of my EDS, and my feet get stone cold during the winter,” Alexis M. said. Lori P. recommended memory foam type slippers. Ray Lynn E. recommended “comfortable ‘union suit’/adult onesie PJs. I have some that double as comfy costumes and they make being sick in bed suck less. After all, it’s hard to stay sad when your PJs turn you into a winged unicorn.” Laura P. suggested grippy socks. Buy the memory foam slippers above for $25.99 from Amazon. Buy the grippy socks above for $6.99 from Amazon. 5. EDS Awareness Items “I love getting awareness shirts/hoodies,” Michelle K. said. “I want an EDS shirt and some zebra print stuff,” Alison M. said. Buy the black shirt above for $16.99 from Amazon,  or buy the blue hoodie for $31.99 from Amazon. 6. Gift Cards Alexandra E. recommended a gift card to an infusion clinic or for massages. “I really want a gift certificate to our local salt float tank studio,” Katrina G. said. “I would love to receive a gift certificate for cleaning services,” Toni M. said. Buy a gift card for massages from Massage Heights. 7. Handicrafts to Keep Us Busy “DIY items that I can use (easily) to decorate my disability equipment. Things like sticky-back-plastic for big flat surfaces, washi tape or duct tape, all in nice colors or patterns. If the person is more hands-on, then maybe some spray paints or leaf foils. Some people add little gems, tassels, flowers, etc. I’m currently adding studs to the fake leather of my wheelchair’s armrest (so that random strangers will stop leaning on it),” Amber B. said. Donna C. suggested yarn to keep her busy. Buy the zebra-style duct tape above for $14.99 from Amazon. 8. Braces and Splints to Support Our Joints “Compression stockings, silver ring splints, and a neck brace,” Lydia M. said. “New leg braces — the cheap ones wear out quick and rub in the wrong places,” Erin K. said. Buy the compression socks above for $12.95 from Amazon. For more information about products that help people with POTS, check out our community’s recommendations here. 9. Helpful Medical Devices “A mini TENS machine! That would help my long work days better!” Savannah said. “I would love a VogMask, as our immune systems are often compromised, and around the holidays, everyone is always sick,” Catherine M. said. Buy the mask above for $29.70 from Amazon. 10. Ice and Heating Pads to Relieve Our Pain Ashley M. suggested, “an ice pack with a velcro strap on it that makes it wrap around areas of the body.” “A heating pad! It helps my back and leg pain immensely,” Abbey R. said. Buy the ice pad above for $19.99 from Amazon. 11. Smart Watch “A Fitbit or similar device to track my heart rate and sleep. I’m afraid I probably wouldn’t get in enough steps to be worth counting,” Jamie E. said. “The new Apple watch. Most of us suffer from many related issues and the new watch can do an EKG (limited) and keep a better chart on heart function,” Kelly M. said. Buy the Fitbit above for $139.99 from Amazon. 12. Tools to Help Around the House Ashley M. suggested stainless steel straws and a veggie chopper that’s easy to use. “I would love to receive one of those robot vacuums, and it’d be an even bigger bonus if it was one that mopped too! It’s at the top of my Christmas list this year!” Shawna B. said. Buy the robot vacuum above for $179.99 from Amazon. 13. CDs, DVDs and Books “CDs of my favorite brands, DVDs of my favorite anime, movies, and shows, and anything else calm and homey. I use all of those things for my bad days. They make me feel a bit better and give me a little comfort,” Amanda U. said. Buy the books above for $24.97 from Amazon. 14. Travel Mugs “I use a wheelchair in the house sometimes, and as a British person, I love tea! But I can’t wheel with a mug of tea, so the lid stops me burning myself. The little things in life,” Kirstie W. said. Buy the mug above for $24.95 from Amazon. 15. Your Company “I like to spend time with people. It would be nice to have someone bring a movie and snacks to share. I can’t always go out,” Megan M. said. Buy the movie above for $7.99 from Amazon UK. 16. Help Around the House EmJ J. said she wished for a cleaning service and babysitting. Hire a cleaning service from The Maids. 17. Cash to Help Pay for Medical Expenses “Money for all the previously acquired (and undoubtedly future) medical bills,” Adrianne W. said. 18. Subscriptions for Entertainment and Delivery Services Lauren A. and Saylor A. suggested a Netflix subscription. “Membership for a grocery delivery service like Shipt,” Lindsay W. said. Buy a membership for grocery delivery from Shipt.

Karina Sturm

18 Gift Ideas for People Living With Ehlers-Danlos Syndrome

Living with a chronic illness such as Ehlers-Danlos syndrome (EDS) often means spending significant portions of your income for medical devices, medication and doctors appointments, which makes gift-giving occasions like birthdays and the holiday season a particularly helpful time. With the right ideas, our family and friends can help us to live a better life with Ehlers-Danlos syndrome by buying products that we truly need and may not be able to get ourselves. Presents that relieve our pain for a moment, distract us from being chronically ill, or help us to receive a brace, wheelchair or device we could otherwise not afford might mean the world to us. The Mighty hopes by sharing this collection of gift ideas by our community, loved ones of people with Ehlers-Danlos syndrome will get some ideas for gifts that are both helpful and fun. Here are the gifts our community would love to get: 1. Cards and Letters “Something that makes me know they are thinking about me. So often we feel alone,” Crystal A. said. Buy the the Christmas cards above for $13.75 from Amazon. 2. Pillows and Blankets   Alexandra E. suggested a heated blanket. “My mom is getting me a weighted blanket and a new U-shaped body pillow,” Jayne F. said. Buy the weighted blanket above for $52.99 from Amazon. Buy the U-shaped pillow above for $54.59 from Amazon. If you want to read more about pillows, look at these 27 pillows and 14 alternative pillows that help people with chronic pain sleep better. 3. Items That Facilitate EDS Education and Advocacy Heidi J. wishes to get tickets to the EDS Society’s learning conference next year. “I got this [pictured below] from my mum for my birthday! Having EDS, I need to know exactly what’s happening inside of myself so that I can convey it as technically as possible to the doctor. It’s hard being your own best advocate, but knowledge is power when you are chronically ill. I have now asked for more of these diagrams as future gifts,” Megan L. said. You can buy tickets for the upcoming conferences on the website of the Ehlers-Danlos Society. 4. Comfortable Clothes “Some thick fuzzy socks from TJ Maxx or Marshals! I have postural orthostatic tachycardia syndrome (POTS) because of my EDS, and my feet get stone cold during the winter,” Alexis M. said. Lori P. recommended memory foam type slippers. Ray Lynn E. recommended “comfortable ‘union suit’/adult onesie PJs. I have some that double as comfy costumes and they make being sick in bed suck less. After all, it’s hard to stay sad when your PJs turn you into a winged unicorn.” Laura P. suggested grippy socks. Buy the memory foam slippers above for $25.99 from Amazon. Buy the grippy socks above for $6.99 from Amazon. 5. EDS Awareness Items “I love getting awareness shirts/hoodies,” Michelle K. said. “I want an EDS shirt and some zebra print stuff,” Alison M. said. Buy the black shirt above for $16.99 from Amazon,  or buy the blue hoodie for $31.99 from Amazon. 6. Gift Cards Alexandra E. recommended a gift card to an infusion clinic or for massages. “I really want a gift certificate to our local salt float tank studio,” Katrina G. said. “I would love to receive a gift certificate for cleaning services,” Toni M. said. Buy a gift card for massages from Massage Heights. 7. Handicrafts to Keep Us Busy “DIY items that I can use (easily) to decorate my disability equipment. Things like sticky-back-plastic for big flat surfaces, washi tape or duct tape, all in nice colors or patterns. If the person is more hands-on, then maybe some spray paints or leaf foils. Some people add little gems, tassels, flowers, etc. I’m currently adding studs to the fake leather of my wheelchair’s armrest (so that random strangers will stop leaning on it),” Amber B. said. Donna C. suggested yarn to keep her busy. Buy the zebra-style duct tape above for $14.99 from Amazon. 8. Braces and Splints to Support Our Joints “Compression stockings, silver ring splints, and a neck brace,” Lydia M. said. “New leg braces — the cheap ones wear out quick and rub in the wrong places,” Erin K. said. Buy the compression socks above for $12.95 from Amazon. For more information about products that help people with POTS, check out our community’s recommendations here. 9. Helpful Medical Devices “A mini TENS machine! That would help my long work days better!” Savannah said. “I would love a VogMask, as our immune systems are often compromised, and around the holidays, everyone is always sick,” Catherine M. said. Buy the mask above for $29.70 from Amazon. 10. Ice and Heating Pads to Relieve Our Pain Ashley M. suggested, “an ice pack with a velcro strap on it that makes it wrap around areas of the body.” “A heating pad! It helps my back and leg pain immensely,” Abbey R. said. Buy the ice pad above for $19.99 from Amazon. 11. Smart Watch “A Fitbit or similar device to track my heart rate and sleep. I’m afraid I probably wouldn’t get in enough steps to be worth counting,” Jamie E. said. “The new Apple watch. Most of us suffer from many related issues and the new watch can do an EKG (limited) and keep a better chart on heart function,” Kelly M. said. Buy the Fitbit above for $139.99 from Amazon. 12. Tools to Help Around the House Ashley M. suggested stainless steel straws and a veggie chopper that’s easy to use. “I would love to receive one of those robot vacuums, and it’d be an even bigger bonus if it was one that mopped too! It’s at the top of my Christmas list this year!” Shawna B. said. Buy the robot vacuum above for $179.99 from Amazon. 13. CDs, DVDs and Books “CDs of my favorite brands, DVDs of my favorite anime, movies, and shows, and anything else calm and homey. I use all of those things for my bad days. They make me feel a bit better and give me a little comfort,” Amanda U. said. Buy the books above for $24.97 from Amazon. 14. Travel Mugs “I use a wheelchair in the house sometimes, and as a British person, I love tea! But I can’t wheel with a mug of tea, so the lid stops me burning myself. The little things in life,” Kirstie W. said. Buy the mug above for $24.95 from Amazon. 15. Your Company “I like to spend time with people. It would be nice to have someone bring a movie and snacks to share. I can’t always go out,” Megan M. said. Buy the movie above for $7.99 from Amazon UK. 16. Help Around the House EmJ J. said she wished for a cleaning service and babysitting. Hire a cleaning service from The Maids. 17. Cash to Help Pay for Medical Expenses “Money for all the previously acquired (and undoubtedly future) medical bills,” Adrianne W. said. 18. Subscriptions for Entertainment and Delivery Services Lauren A. and Saylor A. suggested a Netflix subscription. “Membership for a grocery delivery service like Shipt,” Lindsay W. said. Buy a membership for grocery delivery from Shipt.

Karina Sturm

What I Feel Like Right Now With Ehlers-Danlos Syndrome

One week ago, a writer asked me if I was able to pack my feelings about my disabling condition in only 200 words. My emotions about how it feels to be young and chronically ill, irrationally and without any facts, without thinking about how I might present myself to the public. Me? Appearing weak? Was I able to lift the curtain and talk about irrational fears? Could I risk making myself this vulnerable? It is very hard to provide access to one’s deepest inner world, to point out every wound of the soul, if you already got hurt. Well, usually I like challenges. What I do not like are emotions. Especially those that I have been carrying around as a burden for years and only partially digested because they hurt too bad. But maybe, this is exactly the right moment. Maybe right now, here, it is the time to talk about it. So how do I feel, right now, as a 30-year-old Ehlers-Danlos patient? It is not only this one feeling I have, it is more of a combination, sometimes even contradictory emotions at the same time. I am… …happy Happy about… …finally being diagnosed …knowing the enemy …getting support from completely different people …recognizing who is a friend …being able to appreciate the small things in life …being alive …discovering new talents …being able to accept new challenges …afraid There is the fear… …about the future and what might happen next …about losing even more people in my life …of dying …that I will not be able to find coping strategies for the rest of my life …relieved Relieved… …from the burden not to know what has been torturing my body for years, what made me this sick …because I know, I do not have to prove that I am sick anymore …desperate Desperate… … about standing in front of another downhill episode and not to know how I will overcome it this time …when doctors do not want or cannot help …if a new problem arises but there are still ten unsolved ones …that I never know if my condition will get a little better again or if this rainy season will last forever …impressed Impressed… …by my strength …that I learned how to survive and fight …that I can be happy, even with my limitations …disappointed Disappointed… …about my weaknesses …that I am crying again …about my inadequate performance …about being a disappointment to other people – because of absence, being not there for them …about the bad friend I seem to be sometimes …thankful Thankful for… …new ways that opened up …new friendships …love, relationship, family …the things I am still able to do …the help I got and will get …the possibilities I still have despite illness …sad Sad… …about the decision that I will not have children …about not being able to work a regular job …that I always have to find a new sense in life …that my past and healthy me missed so many chances without even knowing …about how many moments I did not appreciate; how much great things I got without deserving …about everything I lost because of EDS …about the ignorance I sometimes experience …free Free… …from the pressure that I always have to be the best, the fastest… …from being fully competitive …angry Angry… …about all the bad things that had to happen to me …that despite having a diagnosis some people doubt it and call me lazy …because it does not stop, there are and will always be new problems …inspired Inspired… …to write about my life …by others, to master my life and strengthened to stay on this path …envious Envious of… …people who are healthy and do not appreciate it. People, like I was in the past, that go carelessly through their lives without expecting any consequences …patients that are able to get the medical help I would need Ashamed of myself for having such ugly thoughts sometimes …dissatisfied Dissatisfied with how my life might be tomorrow …satisfied Satisfied with how my life is today. We want to hear your story. Become a Mighty contributor here . Lead photo by Thinkstock Images

Karina Sturm

What I Feel Like Right Now With Ehlers-Danlos Syndrome

One week ago, a writer asked me if I was able to pack my feelings about my disabling condition in only 200 words. My emotions about how it feels to be young and chronically ill, irrationally and without any facts, without thinking about how I might present myself to the public. Me? Appearing weak? Was I able to lift the curtain and talk about irrational fears? Could I risk making myself this vulnerable? It is very hard to provide access to one’s deepest inner world, to point out every wound of the soul, if you already got hurt. Well, usually I like challenges. What I do not like are emotions. Especially those that I have been carrying around as a burden for years and only partially digested because they hurt too bad. But maybe, this is exactly the right moment. Maybe right now, here, it is the time to talk about it. So how do I feel, right now, as a 30-year-old Ehlers-Danlos patient? It is not only this one feeling I have, it is more of a combination, sometimes even contradictory emotions at the same time. I am… …happy Happy about… …finally being diagnosed …knowing the enemy …getting support from completely different people …recognizing who is a friend …being able to appreciate the small things in life …being alive …discovering new talents …being able to accept new challenges …afraid There is the fear… …about the future and what might happen next …about losing even more people in my life …of dying …that I will not be able to find coping strategies for the rest of my life …relieved Relieved… …from the burden not to know what has been torturing my body for years, what made me this sick …because I know, I do not have to prove that I am sick anymore …desperate Desperate… … about standing in front of another downhill episode and not to know how I will overcome it this time …when doctors do not want or cannot help …if a new problem arises but there are still ten unsolved ones …that I never know if my condition will get a little better again or if this rainy season will last forever …impressed Impressed… …by my strength …that I learned how to survive and fight …that I can be happy, even with my limitations …disappointed Disappointed… …about my weaknesses …that I am crying again …about my inadequate performance …about being a disappointment to other people – because of absence, being not there for them …about the bad friend I seem to be sometimes …thankful Thankful for… …new ways that opened up …new friendships …love, relationship, family …the things I am still able to do …the help I got and will get …the possibilities I still have despite illness …sad Sad… …about the decision that I will not have children …about not being able to work a regular job …that I always have to find a new sense in life …that my past and healthy me missed so many chances without even knowing …about how many moments I did not appreciate; how much great things I got without deserving …about everything I lost because of EDS …about the ignorance I sometimes experience …free Free… …from the pressure that I always have to be the best, the fastest… …from being fully competitive …angry Angry… …about all the bad things that had to happen to me …that despite having a diagnosis some people doubt it and call me lazy …because it does not stop, there are and will always be new problems …inspired Inspired… …to write about my life …by others, to master my life and strengthened to stay on this path …envious Envious of… …people who are healthy and do not appreciate it. People, like I was in the past, that go carelessly through their lives without expecting any consequences …patients that are able to get the medical help I would need Ashamed of myself for having such ugly thoughts sometimes …dissatisfied Dissatisfied with how my life might be tomorrow …satisfied Satisfied with how my life is today. We want to hear your story. Become a Mighty contributor here . Lead photo by Thinkstock Images

Community Voices

I miss me. The old me. The happy me. The smiling me. The gone me.
#CheckInWithMe

5 people are talking about this