Wednesday, December 23, 2009
Love and Hope,
Monday, December 21, 2009
1) Increased Flexibility – ‘double-jointedness,’ majority of joints extend past 180 degrees
2) Skin – extra soft, silky-smooth skin that is very thin, easily bruises and is slow to heal, scarring that is characteristically smoother in texture and lighter in color than surrounding skin
3) Frequent Injury – accident prone and clumsy, due to decreased proprioception (the body’s sense of its own movement through 3D space)
4) Anesthesia Problems – anesthetics (such as novicaine and lignocaine) take longer to take affect and ware off faster than normal
5) Joint Pain – frequent joint pain which does not respond to typical treatments such as ice, rest and anti-inflammatory medication, can be brought about suddenly without any direct injury or trauma and lasts longer than normal muscle inflammation
- If these symptoms sound familiar, it may be worth investigating Hypermobility Syndrome as a possible diagnosis to help explain your medical problems. Below you will find the Beigton Test and Brighton Criteria, the two medical tests used along with family history and certain exclusionary exams (such as Xrays, MRIs and blood work) in diagnosing HMS. First, use the Beighton Test to see if you have Generalized Joint Hypermobility, the primary symptom of HMS, which can be determined by a score of 4/9 or higher. Then, use the Brighton Criteria to asses whether or not HMS is the likely cause of this characteristic increased joint flexibility. Since HMS is a genetic disorder, it may be beneficial to have other family members perform these tests, or to at least have an accurate and detailed family health history at hand. If the Beigton Test and Brighton Criteria indicate that HMS is likely, it may be beneficial to talk to your doctor about Hypermobility Syndrome and Ehlers-Danlos.
There is an excellent new study out this month in the Disability and Rehabilitation Journal, which investigates the effects disrespectful encounters with health care professionals has on Ehlers-Danlos and Hypermobility Syndrome patients. The study found that these negative experiences are not only psychologically and emotionally damaging, but can adversely influence the long-term health of such patients who are often hesitant to seek medical assistance. Below you can find an abstract of the study as well as a link to a newspaper article which provides another great overview. This study sets an excellent precedent for future investigations into the impact of Hypermobility on patients’ lives, as well as the consequences of the current hostility of the medical community towards the disorder.
DIGNITY NOT FULLY UPHELD WHEN SEEKING HEALTH CARE: EXPERIENCES EXPRESSED BY INDIVIDUALS SUFFERING FROM EHLERS-DANLOS SYNDROME
Aim - The principle of human dignity has assumed importance in ethics and constitutional law throughout the 20th century in the Western world. It calls for respect of each individual as unique, and of treating him or her as a subject, never as a mere object. As such, the principle constitutes an ethical cornerstone in health care. Patients suffering from Ehlers-Danlos syndrome (EDS) challenge medical care and knowledge in health-care professionals' as symptoms sometimes are vague. Individuals with this disorder have reported not being respected when seeking health care.
Purpose - To describe encounters in health-care situations when individuals suffering from EDS experienced that their dignity was not fully upheld. A further aim was to describe the long-term consequences of these experiences.
Method - A study-specific questionnaire was designed, where individuals with EDS described their encounters with health care from a personal perspective.
Results - After qualitative content analysis, the following five categories were identified: 'Being ignored and belittled by health-care professionals,' 'Being assigned psychological and/or psychiatric explanations', 'Being treated and considered merely as an object', 'Being trespassed in one's personal sphere' and 'Being suspected of family violence'. Consequences of these encounters were 'Mistrusting the physician' and 'Risking bad health'.
Conclusions - The memory of not being respected is substantial for individuals with EDS and can last for years. As a result, lack of trust for the health-care system is created and they may experience difficulties in future encounters with health care. Therefore, health-care professionals should base their actions on norms that protect human dignity and confirm each patient as a unique human being with resources and abilities to master their own life.
Saturday, December 19, 2009
Please check out my new article in the Daily Tar Heel, the University of North Carolina at Chapel Hill's on-campus newspaper. It is more of a human interest piece than about awareness, but being able to put a face to the disease is extremely useful in getting people to care. Please read and pass along the hope to others!
Friday, September 25, 2009
1) Myth - Hypermobility is a benign condition, so there is no incentive to diagnose it.
Truth - When it was first identified in medical literature in the late 1960s, Hypermobility Syndrome was named 'Benign Joint Hypermobility,' because it was first noticed in patients who were 'double-jointed' but otherwise appeared to be perfectly healthy. Numerous studies in more recent years have linked HMS to very serious disorders such as fibromyalgia and osteoarthritis in addition to its threat of debilitating joint pain. Despite all the evidence to the contrary, Hypermobility is still considered as more of an oddity, a parlor trick, than a serious medical condition.
When I was struggling with finding a diagnosis, I visited the Emory Hospital Pain Management Center in Atlanta, GA which is one of the most prestigious pain management centers in the south east. I was seen by Dr. Baumann, who was named one of Atlanta's Top Doctors for pain management in the August, 2001 edition of Atlanta Magazine. When I arrived I had already received a positive diagnosis of hypermobility, but when I mentioned this, the doctor immediately dismissed it. She told me that I had 'myofacial pain syndrome' (which is just a medical descriptive term, rather than diagnosis, of generalized muscle pain). She told me that there was nothing that could be done, and that I would 'just have to learn to deal with my condition, like the way a person with diabetes or obesity manages their condition.' This comment illustrates that even medical professionals at the top of their fields can be ignorant of the fact that Hypermobility severely affects the health and lives of many individuals. If Dr. Baumann, an award winning doctor, is misbelieving of the significance of HMS, what can be expected of the average family doctor, pain management specialist or rheumatologist?
2) Myth - Since Hypermobility Syndrome is a genetic disorder and therefore cannot be ‘cured’ either through surgery or pharmaceutical treatments, there is no money to be made in researching or treating the disorder.
Fact – The misdiagnosis of patients with Hypermobility Syndrome costs hospitals, doctors, and insurance companies countless dollars due to unnecessary tests and being sent to superfluous specialists. Most Hypermobile patients are bounced from doctor to doctor, and specialist to specialist for months, and sometimes years on end in search of relief. In the process they often miss work and have very costly yet unnecessary tests done, draining the money and time from an already overloaded medical system. If doctors and specialists were to diagnose HMS proactively, they could save their patients from pain and save themselves money in the process. In just five minutes, with a simple test of a patient’s flexibility and family as well as personal health histories, a definitive diagnosis can be made without costing a dime!
3) Myth – Hypermobility Syndrome is just a Women’s Issue. These healthy young girls complaining of inexplicable pain just need to toughen up and stop whining!
Truth – while HMS affects 5% of the female population, it affects men as well. Patients should be respected and trusted, it takes courage to ask for help and terrifying to be admonished by the very people who are supposed to help you. Also, another problem is that many girls with Hypermobility perceive the disorder as an asset rather than a liability. Hypermobility causes certain ‘feminine’ body characteristics, such as silky-smooth porcelain skin, elongated and dainty limbs and digits, and tiny wrists and ankles. Also, the natural flexibility that Hypermobility causes makes many girls highly desired by gymnastics, cheerleading, and dancing coaches, activities in which they excel do to the competitive edge their inherent flexibility and range gives them.
4) Myth – Hypermobility is so rare, one could not really be expected to have heard of it, let alone be able to recognize it in others.
Truth – HMS is extremely common, Ehlers-Danlos Syndrome Type III Hypermobility Syndrome alone affects 5% of all women! Almost all of us has at least one ‘double-jointed’ friend who has freaked us out or entertained us with their abnormal flexibility and contortions. Also, many models and actors/actresses are Hypermobile too – two of the affects of the collagen imbalance that causes HMS are silky-smooth skin and long, lean, dainty limbs, which gives them a natural advantage on the red carpet. See the pictures below of celebrities who are hypermobile and may not even know it!
Below - Allison Harvard (Runner-up America's Next Top Model Cycle 12), Jessica Stroup (Actress 90210), Demi Lovato (Actress Camp Rock, Singer), Meaghan Jette-Martin (Actress 10 Things I Hate About You TV), Kevin Jonas (Musician The Jonas Brothers), Taylor Mommsen (Actress Gossip Girl), Mary-Louis Parker (Actress Weeds), Jennette McCurdy (Actress iCarly), Ashley Argota (Actress True Jackson), David Caruso (Actor CSI:Miami)
There is a pathological family that falls under the discipline of Rheumatology, known as Heritable Disorders of the Connective Tissues. The individual pathologies vary widely in both severity and symptoms, and include disorders such as Marfan Syndrome (MFS), Ehlers-Danlos Syndrome (EDS), and Osteogenesis Imperfecta (OI). One symptom that each of these disorders present with is joint hypermobility. It is advantageous for rheumatologist, then, to look for joint hypermobility first in all of their patients; if the patient does not display hypermobility then the doctor can safely rule out an entire class of disorders, and if the patient is in fact found to be hypermobile, the doctor will have a very specific idea of what is wrong and the course of treatment needed. The current methods employed to diagnose disorders such as MFS, EDS, and OI are both costly and time consuming – many tests such as blood work, X-rays and MRIs must be repeated to look at tighter and tighter parameters. Since the cause of this family of disorders is genetic, skin biopsies are often needed to make a definitive diagnosis, a process which is costly for both patient and doctor. There is, however, a much more efficient and expedient way to make diagnoses for these disorders; upon determining that a patient is hypermobile, a thorough family and personal health history, which requires no tests and costs no money, can provide enough data to come to a decisive and final diagnosis, without the need of costly tests or wasting any time. The diagnosis of Connective Tissue Disorders today is one of a process of elimination, one that proves costly and grossly inefficient. Ehlers-Danlos Syndrome Type III alone affects 5% of the female population, causing an immense drain on the healthcare and insurance systems as patients are bounced from doctor to doctor and from test to test for months, or in many cases, years. The manpower and money that could be saved by being proactive rather than reactive in the diagnoses of Connective Tissue Disorders is immeasurable.
The strain caused by these disorders is not only felt in the healthcare or insurance communities, but in the workforce and social services as well. Studies show that Connective Tissue Disorders have a significant impact on the quality of life of patients; many are unable to work full-time or consistently, causing many patients who have been unable to receive a diagnosis or reliable treatment plan to rely on the unemployment system and other social services in order to provide for themselves and their families. Once again, the scale of the amount of tax dollars that could be saved by being proactive and spreading awareness about hypermobility in the medical community is impressive. Not only would a focus on diagnosing hypermobility save countless dollars from being spent, but the test for hypermobility itself costs absolutely nothing to perform. The test for hypermobility is known as the Beighton Scale and/or the Brighton Criteria. These tests require the patient to perform a series of movements with various joints to see if/how many of those joints exhibit abnormal or increased mobility. This test takes less than 5 minutes to perform, does no harm to the patient, and costs nothing to perform for the doctor and insurance companies. In 5 minutes more can be determined in the diagnosis and prognosis of a patient than can be learned in months or years given the current stratagem of the medical community. In the same vein, the quicker that a diagnosis can be reached, the shorter the recovery time for the patient, and the faster they can go back to their lives and rejoin the workforce – saving countless dollars in insurance bills, treatments, and unemployment and/or workers compensation payments. Furthermore, as Connective Tissue Disorders are heritable pathologies, so once one member of a family is given a diagnosis, it makes the diagnosis of other family members exponentially easier, ensuring that the healthcare system will not be burdened with subsequent generations of patients, as preventative actions can be taken.
Once again, the medical community has nothing to lose and everything to gain by shifting its focus towards the diagnosis of hypermobility in patients. Rheumatologists are not the only healthcare professionals who could benefit from testing for hypermobility; a vast majority of patients suffering from Connective Tissue Disorders are seen by orthopedists, gynecologists, physical therapists, psychologists, and pain specialists. The burden placed on the healthcare system, then, is as wide reaching as it is heavy. A recent study shows that less than 10% of hypermobile patients are correctly diagnosed by their primary care physicians. Incorporating a discussion of hypermobility into the common curriculum for general practitioners, then, would be hugely beneficial; the testing for hypermobility requires neither any testing equipment nor specialized expertise, therefore, general practitioners could easily screen for the trait, preventing patients from having to seek the care of specialists in the first place.
In conclusion, screenings for hypermobility would be easy and costless to implement, and would be immeasurably beneficial. Such screenings would eliminate wasted time, money, and testing by doctors and hospitals, and relieve strains on insurance companies, as well as unemployment, disability pay, and other social services that demand a high amount of manpower as well as tax dollars. Hypermobility may at first appear as an insignificant phenomenon, and one that is easily overlooked; however, it is just as easy to recognize as it is to ignore, and once spotted, its benefits are as far reaching and immediate as they are drastic.
Friday, September 4, 2009
Brad T Tinkle, MD PhD - Chelsea's story is a sad one indeed and unfortunately repeated everywhere too many times. We need to advise healthcare workers and families that joint hypermobility is not a "gift" to be exploited especially in young athletes, and we had better work towards making a long term difference in their lives by re-teaching those to use their joints within normal limits.
The Ehlers-Danlos National Foundation recognizes the hypermobility syndrome as the same as the hypermobile type of Ehlers-Danlos syndrome and would welcome those seeking support or information.
Monday, August 31, 2009
As always, love and hope,
If you are new to the site, welcome! Hypermobility Hope is here to be your one-stop-shop for information on hypermobility - scroll through the articles, videos, and links to get a better sense of weather or not you are hypermobile or how to deal with the disorder if you have already been diagnosed.
Love and Hope,
Monday, August 17, 2009
While there is much academic research about Hypermobility out there, there is a shocking lack of studies on how HMS affects patients' quality of life and interefers with thier daily lives. In the hopes of helping to somewhat fill this whole, I will be reporting as much as I can as honestly as I can about the physical and emotional burdens imposed by HMS.
Please encourage others with HMS or who think they might have the disorder to join the discussion! Together we can bring eachother hope and solutions!
Love and Hope,
Monday, August 10, 2009
There are two main explanations for this phenomenon. First, the body of a Hypermobile person is different from that of non-Hypermobile people because their connective tissues have a different genetic makeup, which allows joints to have a greater range of motion, extending further than they are intended to do. In other words, the first explanation is a genetic one. The second reason is a bit more subtle, and it has to do with the way in which the brain perceives the physical body. Humans have a sense called proprioception, which is the perception of one's physical body in space. This sense allows us to navigate through 3D space accurately, knowing instinctively where each point of our body is at any given moment. For example, if you were to ask your friend to close their eyes, and then moved their hand to the left 4 inches, your friend would know exactly where their arm was without opening their eyes (even if they can't tell you 4 inches, that is irrelevant - the brain knows where the arm is). If you were to do this to a Hypermobile person, you would have less accurate results; this is because, for whatever reason, people with Hypermobility have an impaired or diminished sense of proprioception. This causes them to be more clumsy, accident prone, and/or uncoordinated. For example, it is common for a Hypermobile person to run into the corner of a coffee table with their knee, despite the fact that they walk past that exact same coffee table in the exact same position every day. For a non-Hypermobile person with perfect proprioception, the brain has a correct vision of space and location, allowing them to navigate around the coffee table without having to think about it. That is another important point about proprioception, it is not an active sense like vision or taste, but an inactive or instinctual sense - you don't have to think about proprioception, or 'turn it on,' your body just does it. Therefore, the hypermobile person is not aware of thier incorrect posture or the overextension of thier joints - that is just how thier body naturally functions. In other words, the brains of both the Hypermobile and non-Hypermobile person, think they are standing in the same position and in the same alignment; it is the Hypermobile person's impaired sense of proprioception coupled with thier innate flexibility that leads to the marked difference between the two.
Saturday, July 25, 2009
Tuesday, June 9, 2009
Thank you all for your support!
Monday, May 18, 2009
* * * * * * *
There are 2 parts of the QEEG
1= a medical part (neurologist looks at tracings)
2= quantitative part, see what its made up of
Each line is a location in your head (eyes closed/open, etc.) and each sensor represents hundreds of thousands of brain cells, and they all are not firing at same rate, so each line is an average, but we want to see what that average is made up of, so we put filters on to see a specific range.
Medical part – clinical neuropsychologists analyze your brain, this should be part of your primary care record so you have something to compare to if you were to have a head injury, but they did not see anything that looked like a ‘medical disorder of the brain’
Quantitative part – of the 19 lines there is one that is different (darker = busier = brain cells firing more rapidly) at T4 above right jaw. If someone has a pain disorder there is a natural tendency to clench the jaw, this is a common finding when there is a chronic pain condition, and it feeds back into the pain center in the brain, priming it up to be on the lookout for pain stimuli.
Pain works by kindling – if something is triggered in the brain, like pain, the cells will fire more rapidly, and when they do so they form connections with each other. ‘Brain cells that fire together, wire together.’ The more of this kindling that is done, the lesser the stimulus needed to trigger a reaction. Everything else looks the way that it should.
Looking at a frequency distribution graph, 0-25 hertz, of all the brain cells that are firing 1x or 2x or 3x etc., when eyes are closed there should be peak in back of the head. 10 hertz is the idling frequency of the brain, when the brain cells are not doing something, but they are ready to do something. When you open your eyes you want that peak to drop. Despite all this, there is a point in back of your head that didn’t change between eyes closed and opened; that is ‘very rare’ and ‘very interesting.’ This is what is called a Rogue Spot, and is very unusual. The area where your Rogue Spot is, is that area where your internal representation of your body resides (that would be consistent with a stroke victim), and is also the area where your senses come together. I think the pain has really messed that area up, and it being messed up feeds back into the pain, so you get a repetitive loop of pain. This is medically normal, however, and the primary importance of knowing this is in prescribing the neuro-feedback. What we will do is, hook this rogue spot up to its partner on the other side of the brain and make the two cooperate together so the rogue site has to do more of what the normal site is doing. The rogue spot doesn’t want to be bad, it is just stuck, and I think the pain set this up, not visa versa.
On this next graph, the places that are blue are doing too little (i.e. not firing enough/frequently), and those that are red are doing too much (i.e. firing too much/too rapidly). Here we see a low level of 18-28 hertz on the left front side, and this tells me the stuff we are looking at, that rogue spot, is causing problems with concentration, focus, verbal processing, and short term memory (this would significantly interfere with school). This is purely a consequence of the rogue spot which is sucking up energy from other areas of the brain, and that left side stuff is seen as expendable to the brain.
The brain is like a walnut with two hemispheres, and there is an area in the middle of the fold, connecting the two sides together. We are seeing blue right there in the middle, which is the area of your brain which allows you to shift between different energy level activities (relaxing to having a conversation to driving in a car). This means your brain is not shifting the way it should, which again would make something like school extremely difficult.
Now looking at high frequency, overactive stuff, we are seeing shading towards the right side of your brain. The right side of the brain, is the side that lets us know something is wrong, even before the left side of our brain can figure out what that thing is. The right side of your brain is really overactive, so left side stuff is underactive because of this.
Now we have a graph of one head with little heads inside it. This is measuring how the brain is talking to itself, i.e. how well one spot talking to all the other spots, or the phase symmetry. The rogue spot is really out of step with the rest of the brain, and it sends ripples through the whole system, so we are seeing less symmetry between the spots than we would expect
In conclusion, your brain is intensifying the pain, so the pain perceived is more than the pain stimulus. Our goal is not to get your brain where it doesn’t respond to pain, but where it is not responding too much to pain. We need to get the area that is stuck unstuck, and that will take away the pain that the brain is adding on top of the physically triggered pain.
Thursday, May 14, 2009
This time last year I was backpacking through Europe with friends, but now I wake up every morning and have to fight just to be able to walk; and I have to deal with the fact that I may never again get to be that free-spirited girl who was out conquering the world not so long ago.
Last September, in the span of one week, I went from being a happy, healthy college student to being bedridden with crippling back pain. The sudden onset of my symptoms did not correspond with any sort of trauma – I simply woke up one morning with hip pain. The next day my hip hurt so much I couldn’t walk, and by the end of the week the pain had spread to my back, and I was completely incapacitated, unable to get out of bed. My doctors at school sent me home for two weeks of bed rest, and were confident that because I was young and otherwise healthy, I would bounce back. But over those two weeks I got worse, not better, and my family and I began to realize that we were dealing with something very serious.
I was in a state of constant, unbearable pain for six months, and saw seven different doctors, but not one of them could find anything wrong. Every blood test, MRI, and X-Ray came up clean, and everything else about me appeared healthy and strong. Soon these doctors started telling me my pain was psychosomatic, they suggested there was something wrong with the way my brain processed pain, and some told me I simply had to “surrender” to the pain and “deal with it.” The only thing they could all agree on was that there was nothing they could do to make me any better. I was told that school, a career, family, were all things I should not think about anymore; this was my life. Pain was my life now.
On February 20th, I experienced the most excruciating pain of my life. Even after 6 months of coping with constant, unbearable pain, I was unable to handle the magnitude of the torture. I spent hours writhing in my bed, trying every stretch, every breathing exercise and mind game I could think of, but nothing helped, the pain was too great. I fought as hard as I could but the pain engulfed my entire being, there was not a millimeter of my body that was not racked with pain, and not a nanosecond of relief. Words cannot describe the magnitude of the pain, my own brain could not process the torture, I was completely overtaken. I finally broke down, unable to fight the torment any longer. I began screaming and crying, begging for it to stop, wishing for anything to end the pain; but of course there was no stop button, no end. My mom finally had to feed me a fistful of pills – Oxycodone, Lyrica, Elavil, Flexaril, Motrin – and wait for me to drift off into a drugged stupor. After 45 minutes in Hell, my mind fogged over, but even then the pain was not fully gone, and I fell into a fitful sleep, being awakened by pain and then pulled back to unconsciousness by the drugs. THIS is what the doctors told me I should “manage,” THIS is what they told me to “deal with,” THIS is what the doctors accused me of making up. There is nowhere lower than that, no pain more consuming, no hopelessness more draining. But I survived. All those doctors told me I was weak, but in that moment I knew that I was strong; stronger than they could ever reach, stronger than they could even imagine.
In a final, last-ditch effort, my primary care physician suggested that I might be hypermobile, and sent me to a specialized physical therapist. The only reason she knew about hypermobility, was that she herself suffers from hypermobility syndrome, and has first-hand knowledge of just how painful it can be. The physical therapist confirmed that I was hypermobile after having me do a series of maneuvers, a test that lasted less than five minutes. She determined that my SI hip joint was lax, and moved in and out of socket as I walked, causing one leg to be shorter then the other, throwing my entire back out of alignment. We began a series of special, stabilizing exercises, and I finally, slowly I began to gain relief. By March 28th, just one month after my lowest point and darkest hour, I was flying up to
Despite all this trauma, suffering, and physical as well as emotional torture, I feel lucky. I am so blessed. Less than 10% of people suffering from Hypermobility Syndrome are diagnosed by their primary care physicians. The vast majority never receive a proper diagnosis, and even if they do, it is often too late – they have ruined their lives with alcohol, drugs, and depression. And I don’t blame them, there is no choice; when your options are pain or numbness, and the pain is completely engulfing, you must choose numbness because the pain is too impossible a burden. I feel so grateful and lucky that I finally found a physician who said, ‘yes, I can help you.” I am grateful that I had a supportive family who believed in me and fought with me, even when everyone told us to surrender. And I am so lucky that I had the resources to see so many doctors and receive so many treatments. I was a ghost, I was in Hell. And if it weren’t for my family, I would still be there.
The medical community has been biased against Hypermobility Syndrome (HMS) since its first appearance in medical journals in the late sixties. It was deemed “benign joint hypermobility,” since patients appear to be healthy apart from the increased range of motion in their joints. Despite being linked to serious conditions such as fibomyalgia, osteoarthritis, and pregnancy complications, the stigma of benignity has endured. The answer may lie in the fact that HMS occurs in women 5.5 times more than it does in men, and that when females complain of otherwise inexplicable pain, doctors simply view them as weak and unable to handle pain that would not bother a man. In a
One of the most frustrating parts of this experience has been the lack of information. As a patient, I had to fight for myself, I had to research and dig to find information that my doctors were not giving me. If I had listened to them, my life would be over. But I fought, and though it has proven worthwhile, it has been a lonely road. There are no support groups, no open dialogues about the disorder, which means I have no guidelines to help me figure out how to live my life. I have learned that as a hypermobile person, I have to do things differently; I have to plan and anticipate each move, and there are some motions I can no longer do, and I have to figure out on my own how to get around that obstacle and do it my way. I have no idea what I can expect from my future – there is no one to look up to or talk to in order to help me figure out how my HMS will affect my work and my family life. Do I tell my boss about HMS, would he even understand, or do I keep it a secret and hope that he does not find my inability to sit still for more then 10 minutes or my short attention span on painful days detract from my job performance? Should I have kids if I have a 50% chance of passing HMS onto them, and even if I adopt, how will I care for my children on those days I am in so much pain I cannot even take care of myself? I have no idea how to begin to answer these questions, and that is frightening, the solitude is crippling.
Another hard thing to swallow is that there is no “getting back to normal” for me. This experience has changed me irrevocably. I have to accept that some things I used to do, and loved to do, are things that will forever be off limits for me. I can’t go for a run, I can’t play soccer or field hockey, and I can’t do cartwheels through the quad just because I feel like it. I can’t give my nieces piggyback rides, I can’t play in the Marching Band, I can’t carry heavy books or sit in the library for 5 hours, and I can’t do yoga. It is hard to know who you are, and not loose parts of yourself, when these things are stripped away. Can I still be me if I can’t wrestle with my nieces, or run around being crazy with my friends? I feel at times like I am a prisoner in my body, like there is a constant struggle between how I want to be and how I can be.
Some people say that everything happens for a reason, and I used to be one of those people. I don’t believe that anymore. I cannot accept that someone did this to me in order to teach me a lesson; that would mean the universe is far crueler than I would ever want to accept. What I do believe is that every situation has the potential to become meaningful if we consciously make the choice to make it matter. And so although nothing could ever undo the horrible pain I endured, and will continue to endure, if I can make this experience meaningful by helping even just one other person to avoid a similar situation, then maybe, just maybe, it will be worth it in the end.
Love and hope,
Tuesday, April 21, 2009
Prof Rodney Grahame & Dr Alan Hakim
Department of Rheumatology, University College Hospitals, London
1. Do you have HMS?
We have been working on a 5-part questionnaire to identify hypermobility. If you answer yes to at least 2 of the 5 questions then there is an 80-90% chance you are hypermobile. We hope it will become a simple aide memoire for doctors and allied health practitioners, encouraging them to think about hypermobility as the cause for musculoskeletal problems.
The questions are:
- Can you now (or could you ever) place your hands flat on the floor without bending your knees?
- Can you now (or could you ever) bend your thumb back to touch your forearm?
- As a child did you amuse your friends by contorting your body into strange shapes or could you do the splits?
- As a child or teenager did your shoulder or knee cap dislocate on more than one occassion?
- Do you consider yourself to be double-jointed?
Ref: Hakim AJ, Graham R. A simple questionnaire to detect hypermobility: an adjunct to the assessment of patients with diffuse musculoskeletal pain.
International Journal of Clinical Practice 2003; volume 57: p163-166
2. HMS and local anaesthesia
In our survey of questions for the 5-part questionnaire we also asked about local anaesthetics as there has been work published suggesting that patients with joint hypermobility syndromes may be more resistent to them. We found that people with Benign Joint Hypermobility Syndrome are three times more likely than non-hypermobile individuals to have noticed that either local anaesthetic did not work at all or that they needed to be given more than usual to gain any benefit. We do not know the mechanism behind this but clearly it is an important message to get accross to colleagues in both hospital and general practice as well as dentistry.
3. Vascular problems and HMS
There has been some interesting work done recently looking at the many other non-musculoskeletal symptoms experienced by those with benign joint hypermobility syndrome. In particular people often complain of vascular problems of feeling faint, actual fainting or palpitations. A lot of people also experience gastrointestinal symptoms such as heartburn and irregular bowel habit. In our clinic we found that up to 60% of our patients have these kinds of symptoms on top of the more classic ones of widespread pain, anxiety and fatigue.
Dr Gazit and colleagues from Israel have done some important work that suggests that these kinds of vascular symptoms may be the result of poor functioning of the autonomic nervous system. This is a part of the nervous system that we do not have specific control over. It is responsible, in part, for maintaining our blood pressure and pulse when we move from lying to standing, or increase our level of activity. For some people the autonomic nervous system does not work as well as it should and their blood pressure falls and their pulse rises when they stand up. This makes them feel dizzy and experience 'palpitations', possibly even chest tightness and shortness of breath. Prof Grahame and I, with colleagues from the National Hospital for Neurological Diseases, Queen Square, are looking at this in more detail at present.
Ref. Hakim AJ, Grahame R. Symptoms of autonomic nervous system dysfunction in the benign joint hypermobility syndrome. Rheumatology (Oxford) 2003; Volume 42 supplement: Abstract number 47.
4. Other projects that are underway or about to start are:
- A study looking at the association between hypermobility and complications of pregnancy, particularly rapid delivery and tissue damage in labour.
- A study exploring the benefits and complications of conservative and surgical management of orthopeadic problems in the shoulder and knee in patients with benign joint hypermobility syndrome.
5. Finally a book on the Hypermobility Syndrome...
...'Hypermobility Syndrome - Recognition and Management for Physiotherapists' by Prof Grahame and Rosemary Keer was published on 3 June 2003. Although it is written for physiotherapists, it would still be very accessible to the 'un-medical'.
(Editors note: 'Hypermobility Syndrome - Recognition and Management for Physiotherapists' by Prof Grahame and Rosemary Keer is available from Amazon for £32.39)
Latest Research in Scotland - Prof W FerrellProfessor William Ferrell was awarded a grant from the Arthritis Research Campaign to compare the differences in muscle reflexes and the sensations originating from proprioceptors - sensory nerve endings which feed back information about muscles and tendons to the brain in individuals with HMS.
Sunday, April 19, 2009
Friday, April 17, 2009
1. Hypermobility Syndrome is a genetic collagen defect most people don’t even know they have, that weakens connective tissue around joints
2. HMS is a common cause of unexplained joint pain, but is diagnosed in less than 10% of sufferers who see their primary care physicians
3. HMS is up to 5.5 times more likely to occur in women than in men, and is also more common in people of Asian, African, and Middle Eastern decent
4. HMS symptoms can manifest at any age, from age 3 to 70, and its onset usually does not coincide with any direct accident or trauma
5. HMS symptoms can last anywhere from 15 days to 45 years
6. HMS can predispose sufferers, especially women, to fibromyalgia and osteoarthritis
7. HMS can cause serious pregnancy complications, including premature birth, rapid labor, and uterine prolapse
8. People with HMS have diminished proprioception, or sense of their bodies in space, which increases the likelihood of joint injury
9. HMS patients do not experience the full anaesthetic affect of lignocaine, a drug used in dental work, minor surgery, and epidurals
10. There is currently no consensus as to how HMS should be diagnosed, and no proven treatment plan
10 Quick Diagnostic HMS Questions
1. Does one or more of your joints have a greater range of motion than most people’s
2. As a kid, did you ever entertain your friends by contorting your body in weird ways or by doing the splits?
3. Do you consider yourself ‘double-jointed,’ and/or does your family have a history of ‘double-jointedness?’
4. Is their a history of rectal, mitral valve, or uterine prolapse or hernias in your family?
5. Have you ever suffered unexplained joint pain, or joint pain that started out of the blue, aka was not due to any direct injury or trauma?
6. Have you ever failed to receive relief from inflammation related treatments, such as nonsteroidal anti-inflammatory drugs (NSAIDs) or ice?
7. Does stability, such as stabilizing exercises or stabilizing tape or braces, help your joint pain?
8. Do you or your family have a history of thin, fragile, or silky smooth skin, easy bruising, or varicose veins?
9. Have you ever had to ask your dentist or doctor for more lignociane during dental work or minor surgery, because you were not feeling the full anaesthetic effect?
10. Have you or any of the women in your family experienced a flair up of joint pain during or immediately after pregnancy?
- If you answered ‘yes’ to three or more of the above questions, you may want to talk to your doctor about Hypermobility Syndrome
Thursday, April 16, 2009
• “HMS has been given relatively little attention in the literature. Most reports are in the rheumatology literature, with virtually none in the orthopedic or physical therapy literatures.”
• HMS patients, however, usually see orthopedists or physical therapists for acute joint pain, and are treated without the underlying problem, aka their HMS, ever being acknowledged.
• “Because HMS lacks a definitive pharmacological or surgical treatment, physicians may have perceived little benefit in its diagnosis.”
• “Individuals may be improperly identified as having hypochondria, as malingering, or as having nonspecific chronic pain, without further investigation into the source of their complaints … Failure to recognize the underlying HMS may lead to unnecessary or inappropriate diagnostic studies, surgical procedures, and patient management.”
• “HMS may be from 1.1 times to 5.5 times more prevalent among females than among men. Hypermobility Syndrome is also more prevalent among Asians than among Africans, ant it is more prevalent in Africans than among Caucasians.”
• “There are neither agreed on criteria nor agreed on scores for the diagnosis of HMS.”
• “Easy bruising and poor wound healing may be seen in patients with HMS as well as patients with EDS or Marfan syndrome.”
• “People with HMS have complaints that have lasted from 15 days to 45 years, and onset of symptoms may occur at any age from 3 to 70 years.”
• HMS patients present “a wide range of traumatic or nontraumatic pain complaints … They typically lack the positive laboratory findings found in rheumatologic disorders and, in the absence of acute trauma, lack the radiological changes, inflammation, swelling, and decreased mobility typical of orthopedic pathology.”
• “People with HMS are more likely (69%) to have anxiety disorders than are comparison groups with rheumatological conditions (22%) … Anxiety may also be due to the perception of joint instability and frequent pain and injury without understandable antecedent.”
• “The high incidence of psychological disorders in people with HMS is similar to that seen with fibromyalgia. Ninety percent of individuals with HMS and fibromyalgia reported sleep disturbances. Because HMS and fibromyalgia appear to be related, the causes of psychological disorders in people with HMS may be similar to those proposed for fibromyalgia: abnormalities in serotonin metabolism, stage IV sleep patterns, and levels of substance P, or perceptual hypervigilance.”
• HMS patients have also reported increased cases of the following; uterine prolapse, rectal prolapse, varicose veins, increased bruising, increased skin elasticity, and decreased skin thickness.
• HMS appears to be a gender-influences dominant trait that causes an abnormality in type I collagen, which is abundant in connective tissues. “In patients with HMS, the ratio of type III collagen to type III + type I collagen is increased. Normally, this ratio is 18%:21%, whereas in patients with HMS, it is 28%:46%.”
• “Nerve tissue also appears to be affected in patients with HMS … Increased mobility and decreased joint position sense could make the joints of people with HMS more vulnerable to damage.”
• “Education is probably the most important treatment that physical therapists can provide to individuals with HMS … education regarding joint protection in HMS may similarly decrease pain, traumatic injury, and subsequent degenerative disease in vulnerable joints. It seems appropriate to advise individuals with HMS in the selection of jobs, sports, or recreational activities that will not exacerbate their condition.”
• “Although exercise will not increase stiffness of the lax ligaments seen in patients with HMS, strengthening and proprioceptive exercises are recommended for musculature surrounding affected joints … Indiscriminant exercise, however, could be harmful … [One should] advise individuals with HMS to use stretching exercises cautiously, distinguishing between stretching muscles and stretching joints.”
"Examination and Treatment of a Patient with HMS" L. Russek (2000)
- “The signs and symptoms of HMS are common among patients seen in orthopedic physical therapy clinics; however, the HMS may be overlooked while treating individual joints or tissues causing pain … Recognition of HMS underlying common orthopedic problems may facilitate appropriate patient education and management.”
- “Although the pathophysiology in HMS is not yet understood, the disorder appears to be a systemic collagen abnormality. The ratio of type I to type III collagen is decreased in skin. Abnormaility in collagen ratios is associated with joint hypermobility and laxity of other tissues … HMS also affects cardiac tissue and smooth muscle in the gastrointestinal system and in the female genital system.”
- What the patient reported
- “Pain usually developed without known cause, persisted for several weeks to several months, and then subsided.”
- Easy bruising, frequent skin cuts that healed slowly, problems sleeping, chronic low-level gastrointestinal irritability, chronic fatigue
- “After several episodes of seeing physicians without receiving diagnoses or recommended treatments, she discontinued seeking medical attention.”
- “Mother had diffuse chronic joint and muscle pain … [and] had been various diagnoses, including osteoarthritis of the knee, sacroiliac dysfunction, and lumbar disk herniation, for her lower-extremity pain.”
- “It is important to identify and address the underlying hypermobility rather than treat the individual symptomatic joints. This is because I believed her symptoms were caused by stresses that exceeded the hypermobile tissues’ ability to resist.”
- “On the one hand, there is no cure for the disorder. The goal for treatment, therefore, is not to return to ‘normal’ (ie, not hypermobile) joint mobility but restoration of relatively pain-free function. That is, treatment does not eliminate the underlying impairment of excessive mobility.”
- “Patients with HMS can function and their quality of life often can be improved with treatment but they will usually have chronic or recurrent problems.”
- “The primary emphasis of intervention with this patient was education about the syndrome, about body mechanics and joint protection, and about lifestyle modification.”
- “Although research on joint protection has not been done on HMS, the joint instability in HMS is similar to that seen in the active phase of rheumatoid arthritis.”
- “[The patient] reported that activity modification protecting one joint sometimes transferred stress to other joints, which subsequently became symptomatic. Therefore, she was unable to avoid stress to all joints all of the time.”
- “She reported having had continued difficulty sleeping … [and] was prescribed low doses of notriptyline (a tricyclic antidepressant that acts as a serotonin reuptake inhibitor) … Sleep disturbance, although seldom studied in patients with HMS, may be common: 90% of individuals with both HMS and fibromyalgia reported sleep disturbances … HMS might share some of the physiological abnormalities, such as the decreased cerebrospinal fluid serotonin levels, seen in fibromyalgia.”
- “Because she knew the limitations of what the medical community could do for her disorder, she decreased use of health care services that she knew would be of no benefit.”
"BJHS: Evaluation, Diagnosis, and Management" M. Simpson (US Army Health Clinic) 2005
- “Although BHJS has been well recognized in the rheumatology and orthopedic literature, it has not been discussed in the family medicine literature.”
- “When patients with this syndrome are first seen by a physician, their chief complaint is joint pain, so BJHS can be easily overlooked and not considered in the differential diagnosis.”
- “In general, women have greater joint laxity than men, and up to 5% of healthy women have symptomatic joint hypermobility compared with 0.6% of men. People of African, Asian, and Middle Eastern descent also have increased joint laxity.”
- “First-degree relatives with the disorder can be identified in as many as 50% of cases.”
- Patients with BJHS present with joint pain because “excessive joint laxity leads to wear and tear on joint surfaces and strains or fatigues the soft tissue surrounding these joints … [proprioception] impairment can also lead to excessive joint trauma due to impaired feedback from the joint affected.”
- “The onset of symptoms can occur at any age … Physical activity or repetitive use of the affected joint often exacerbates the pain. Consequently, pain usually occurs later in the day and morning stiffness is uncommon.”
- “Patients with BJHS often say that they are ‘double-jointed’ … or have a family history of ‘double-jointedness.’ Other presentations include easy bruising, ligament or tendon rupture … [and] thin skin.”
- “Diagnoses of BJHS is one of exclusion.”
- “BJHS is thought to be a mild variation of EDS and most closely resembles EDS type III … researchers have suggested that BJHS lies on a continuum with EDS and may be its mildest form because of their overlapping features.”
- Effective treatment may include lifestyle modification, joint protection and stabilization exercises, proper body mechanics, and improving proprioception
- “Hypermobility is a common cause of unexplained joint pain, yet is often misdiagnosed in primary care. According to one source, primary care providers recognized generalized hypermobility in less than 10% of patients with generalized hypermobility who were referred to rheumatologists.”
- “The potential complications of BJHS underscore the importance of making an early diagnosis and educating the patient … a prompt diagnosis improves pain control and decreases disruptions in these patients’ physical activities, school, work, and quality of life.”
"Genetic basis of joint hypermobility syndromes" F. Malfait, A. Hakim, A. De Paepe, R. Grahame – (2005)
- “Rheumatologists have long considered that joint hypermobility is inherited … Later it became apparent that connective tissues other than joints, such as skin, bone and eye, participated in the connective tissue fragility seen in JHS.”
- “It became evident that JHS is itself an under-recognized form of an heritable disorder of connective tissue (HDCT). Patients with JHS can present mild expression of marfanoid habitus, osteoporosis, blue sclerae, skin hyperextensibility, atrophic scarring or easy bruising. Since these features can also be present in the most common form of EDS, the hypermobility type (EDS III), it seems increasingly likely that JHS is, if not identical, indistinguishable from the hypermobility type of EDS.”
- “To date, the genetic basis of joint hypermobility remains largely unknown … Reports of genetic studies in patients and/or families with EDS, hypermobility type, or with JHS are scarce.”
- “Classic EDS is characterized by soft and velvety skin, abnormal scar formation and marked joint hypermobility. The joint hypermobility is usually generalized, affecting both large and small joints, and it can range in severity from mild to severe, with major articulate complications such as habitual subluxation and dislocation of the joints.”
"Time to take Hypermobility Seriously" R. Grahame (Brit Soc of Rheum) 2001
- “From the outset it was perceived more as a curiosity than as an entity that could have significant (let alone serious) import”
- “There is now abundant evidence … that hypermobility can have a serious impact on people’s lives”
- “Patients with BJHS have diminished joint proprioceptive acuity and are less responsive than normal to the local anaesthetic effects of lignocaine”
- “Failure to receive effective intervention not infrequently results in a complicating chronic pain syndrome, fibromyalgia, and depression”
- There appears to be a total lack of consensus on what criteria to use in diagnosis … a distinct lack or familiarity with recently published literature, in particular on the question of the impact on patient’s lives in terms of the effects of chronic pain and the psychosocial sequelae”
- “BJHS is not an easy condition to treat. Physiotherapy forms the mainstay of treatment but has to be tailored to the needs of intrinsically vulnerable tissues, otherwise it may aggravate rather than relieve. Analgesics and non-steroidal anti-inflammatory drugs are generally ineffective, and surgery can be counterproductive”
"British Consultant Rheumatologists' Perceptions of the Hypermobility Syndrome: A National Survey" R. Grahame, H. Bird (UCL) 2001
- Joint hypermobility is a condition considered controversial by rheumatologists
- 92% believed in HMS as a “distinct clinical entity” but only 39% accepted it as a “distinct pathological entity.”
- Only 42% would comment on whether HMS and EDS III (hypermobility type) are one in the same, and only 14% believed it was true
- 50% were skeptical that HMS has “a significant impact” on people’s lives
- “The only logical explanation for these perceived differences [in opinion] is the failure on the part of many consultants to recognize the presence of hypermobility in their patients.”
- “Joint hypermobility is easy to recognize if our looks for it, but equally easy to overlook if one does not.”
- “In terms of the clinical consequences of hypermobility – pain, instability, dislocation, etc. – which may occur in a single lax joint, it matters not how many other joints may or may not be affected. It is clearly illogical to deny a patient a (correct) diagnosis of BJHS” simply because they do not show sufficient hypermobility in the rest of their joints
- “A striking finding was that 61% [of rheumatologists] required a negative laboratory screen before they would be prepared to summon up significant courage to make a diagnosis of BJHS. This smacks of defensive medicine. It is due to a lack of confidence in one’s clinical findings, a need to make such a diagnosis by exclusion rather than by inclusion, or does it signify a lack of conviction in the very existence of the entity itself?”
- “The low perception of the impact of the syndrome on individuals’ lives … is challenged by the patients themselves, and is contrary to published findings.”
- “This survey confirms previous suspicions that the BJHS is a condition that is under-recognized and under-estimated by rheumatologists. There was little sign of awareness of the findings of recent published studies.”
"Living with the Hypermobility Syndrome" S. Gurley-Green (HMSA) 2001
- A majority of HMS patients feel that their doctors don’t understand the impact HMA has on their lives, nor is the medical community able to provide effective treatment
- There are 2 types of HMS patients 1) Those who suffer periods of pain (for a few weeks) but can be symptom free for some time 2) Those for whom every day is a struggle against pain
- Literature suggests symptoms decrease with age, but the stiffening with age does not always mean less pain, and many patients feel their condition deteriorates over time, especially after pregnancy
- There is currently no effective treatment for the majority of patients, for whom pain is sometimes unbearable
- HMS makes performing in the workplace and caring for a family extremely difficult; for some the daily tasks of living, like grocery shopping and laundry, are too much
- Parents are often afraid of passing HMS to their children, and many women are worried that they will not be able to meet the demands of motherhood
- Many patients are accused of having psychosomatic pain because there is often no clear accident or trauma that coincides with the start of the pain, so doctors have a hard time taking the patient’s complaints seriously
- The problem of chronic pain is exacerbated because there is often no link between actions and the onset of pain, so it is difficult to lower pain through behavioral modification
- Many patients see multiple doctors, and suffer from the lack of continuity in treatment and conflicting advice