Back To The Dreaded List ..... Again!

Okay, I have avoided this enough ...... here we go ......this has been a bare to write! Not only the shear volume of it, but the emotional ups and downs that it has triggered .... and the long delay all that has caused, but, for all that it is worth, it is now done ....

Some info to keep in mind as you read this list:

EDS-HT causes the malformation of the body's collagen. Different genes for different types of collagen:

"Collagen is the main structural protein in the extracellular space in the various connective tissues in animals. As the main component of connective tissue, it is the most abundant protein in mammals, making up from 25% to 35% of the whole-body protein content.

Collagen, in the form of elongated fibrils, is mostly found in fibrous tissues such as tendons, ligaments and skin. It is also abundant in corneas, cartilage, bones, blood vessels, the gut, intervertebral discs and the dentin in teeth. In muscle tissue, it serves as a major component of the endomysium. Collagen constitutes one to two percent of muscle tissue, and accounts for 6% of the weight of strong, tendinous muscles." - Wikipedia.com

"Molecular Basis of EDS-HT: In contrast to the other EDS variants, the genetic defect underlying EDS-HT remains unknown."

"Clinical Manifestations: EDS-HT differs from other EDS variants due to the apparent paucity and nonspecificity of clinical findings ... In fact, the scarcity of descriptive manifestations" is due to "the actual lack of shared knowledge and general unawareness of the practitioners on the multifaceted manifestations of EDS-HT."

And now, the list ...

As part of Ehlers-Danlos Hypermobility's multifaceted manifestations, My daughter and I suffer from and live with the following, as part of simply having EDS-HT. We do so either everyday, or chronically to varying degrees and recurrences:

First, you need to know that 'Pain' is our daily companion and burden. We have pain of all kinds: sharp, dull, aching, throbbing, stabbing, burning, pressure, nauseating, and more. We experience nearly all of these 'Pains' everyday. It is by far the most debilitating part of living with EDS-HT. "Pain manifestations are widespread and involve the musculoskeletal system, as well as the nervous system and internal organs." The following gives you the Where, How, and Why we live in such great pain:

1) Joint dislocations, with associated pain and muscle spasms - We have an "increased tendency [for] (sub)luxations, sprains, and soft-tissue lesions (e.g., bursitis, tendinitis, synovitis, tenosynovitis, and fasciitis)."

The above is true for my daughter and my self everyday. I started noticing this in elementary school, my daughter, in her teens, possibly earlier.

My first major dislocations happened when I was 13 during a diving accident. I twisted my spine in a corkscrew twist in mid-air, then hit the water horizontally in this twisted position. Being so flexible due to EDS-HT I had nearly twisted 180 degrees around: Hips and legs facing forward, and face, shoulders, and upper chest twisted nearly all the way around to the back, just before I hit the water. It was like hitting cement, and it dislocated multiple vertebra in my neck, upper back, mid-back, and not only dislocated the last vertebra, L-5, in my low back, but caused it to twist to the left, which eventually wore the disc down into a deep forward slant as well. The accident may also be when my Sacrum tipped upwards, giving me a natural bustle. Then again for EDS-HT sufferers, you can also be born with this tipped Sacrum. Hence the nerve damage in my left leg, and my limp I acquired in my early 20's, let alone the searing sciatic pain all the way down my leg, and into my groin. Some days it so bad that I literally drag my left leg.

As for my daughter, her shoulders are now permanently sublexated forward and will not stay in place when adjusted back into place. Her hips slip in and out of place everyday, and she dislocates several of her ribs on a regular basis.

In actuality, all our joints slip in and out, and often jam and lock in the sublexed position. Not just the major joints (i.e. hips, knees, elbows, ankles, wrists), but all of them, including all finger joints, all the little bones in our feet, when we take a step wrong, or just simply take a step. Our ribs go out if we sneeze or cough, or roll over in bed. My jaw was dislodged in early childhood until my Chiropractor moved it back into place 10 years ago. Now we have to move it back into place once or twice a year. Even our skull is misaligned on our spin and has to be moved back into place repeatedly. Our kneecaps not only pop up and over our knee joint nearly everyday (and we shove them back), but our shine bone and the small bone that runs along side it, slips out of joint, both at the knee joint and at the ankle and needs to be shoved back into place every few months. We have to be aware and careful of buckling or “giving out” of the knees, or the bending backwards of the leg at the knee, and hip joint snapping called Iliotibial Band Syndrome or “snapping hip”, or actual femur head slippage. I could go on and one with this never ending list, but I must move on .....

With all these dislocations, sublexations, and such, our tendons and ligaments, which are not only flexible due to the malformed collagen, they are also fragile, and thus tear easily (on both a micro and macro level) and cause constant swelling and inflammation. Imagine having tendinitis all over your body, 24/7, for decades on end. That is what it is like.

Along with what I just listed, we also deal with on a daily and/or recurring basis the following, due to sublexations and strained or torn soft tissue, especially the tendons and ligaments:

1. Carpal tunnel syndrome - We also have chronic, recurring wrist dislocation of the small bones, and carpel tunnel pain as well. We have to be very careful in using our hands and wrists so that it will not become a permanent condition. It is a daily care we deal with. With my arthritis, I now have to move the bones in my wrists several types a day to ease the pain and keep my wrists mobile and usable.


2. Fibromyalgia - Is a secondary condition when "hyper-extensive and usually unstable joints ... are quite common throughout the body. With such hyper-extensibility, it is also quite common (if not the norm) to find the muscles surrounding the joints to be a major source of compensation when such instability exists." The muscles spasm in an attempt to stabilize the joints when they sublex. Some spams involve the whole or most of the muscle, but most seem to only involve small portions of the muscle, which in turn create tender trigger points all over our bodies. This creates chronic Fibromyalgia pain, which for my daughter and I, showed up at age 15.


3. Temporomandibular Joint - TMJ "dysfunction is reported in >70% of EDS-HT patients... Over the years, TMJ hypermobility becomes complicated by clicks, arthralgias, myofascial pain, masticatory dysfunction, and, eventually, articular locks." As mentioned above, my jaw was misaligned in childhood, but even though it has been realigned, I and my daughter still suffer from chronic TMJ. Chewing is often painful, and can sometimes interfere with eating.


4.  Lumbar Hyperlordosis - "is a condition that occurs when the lumbar region (lower back) experiences stress or extra weight and is arched to point of muscle pain or spasms. Lumbar lordosis is a common postural position where the natural curve of the lumbar region of the back is slightly or dramatically accentuated. Commonly known as swayback, it is common in dancers" Remember the "natural" bustle and the diving accident mentioned above. Also quit painful on a daily basis, and may contribute to much of my sciatica pain.


5. Early Onset Osteoarthritis - I have been showing minor symptoms for the past decade, and now have full blown Osteoarthritis in my hands, feet, ankles, and wrists. My daughter is beginning to show some signs and symptoms.

2) Neurologic & Psychological Features - "Neurologic implications of EDS-HT have been largely ignored in the past. More recently, much attention has been posed on nervous system involvement, as it has been recognized as a major contributor to disability in EDS ... Chronic/recurrent pain and fatigue are, by far, the most common neurologic complaints ... Pain manifestations are widespread and involve the musculoskeletal system, as well as the nervous system and internal organs"

*The Neurological aspects, besides pain, are still being reviled. Pain we have all over our body involving muscles, tendons, ligaments, and joints, as well as inside around the internal organs, the digestive system, the mouth, nose, and ear canals, as stated before. Besides muscle weakness , cramping, and Charlie Horsing, we have shaking, sudden clutching / spasming of major muscle groups (which can violently and suddenly jerk me in half sometimes), and restless leg syndrome. Nerve pain of various types and degrees are a daily struggle to control and deal with. We have several kinds of brain dysfunctions and cognitive issues, and there are also electrical effects on the heart that we both have (see more on that below in: Cardiovascular and Pulmonary Features).

*Psychological aspects fall into two categories: 1) issues unto themselves, 2) issues caused by other medical, physical, and mental conditions. Especially those caused by the aforementioned brain dysfunctions and cognitive issues.

- Conditions in the neurological category we deal with are:

1. Neuropathic Pain (everywhere on and in the body all the time, with recurring flareups and sudden recurring specific nerve involvement), "variably described as electric, burning, shooting, numb, tingling, or hot or cold discomfort, may occur in a radicular or peripheral nerve distribution or may appear to localize to an area surrounding one or more joints. ... One hypothesis is that neuropathic pain may result from direct nerve impingement (e.g., by subluxed vertebrae, herniated discs, vertebral osteoarthritis, or peripheral joint subluxations). In addition, there may be mild-to-moderate nerve compression within areas of myofascial spasm." That pretty much sums it up, except for the chronic aching pain and pressure. Also, recently we have found that I now have bulging discs in my neck, my upper back, and my very low back.


2. Shaking, Tremors, & Spontaneous Spasms: Since late 30's have had combinations of tremors and shaking (pronounced like seizures, but not having seizure at the time). Also sudden spasms of large torso muscles causing me to grunt and often fold in half with a jerk, then relaxes with in seconds. Facial ticks and grimacing on the left side of face. Sometime facial is also combined with shaking of head, left arm and shoulder, causing head and shoulder to try and touch while shaking. At times when laying down, I have constant tremors, shakes, rocking motions, abdominal spasms and jerks, all happening on and off all over my body without stopping, with body in constant motion.
   
   Sudden jerking, especially when asleep, is a common problem for both of us. Pity anyone in bed with use because we tend to slug and smack them suddenly in our sleep. It can also wake us up rather rudely, especially if we smack ourselves in the face when we are sleeping. The taking of 300 mg or more of B1 helps tremendously to slow down episodes and decrease occurrences dramatically. Started 10 or more years before becoming diabetic, so not related to that. I discovered this by pure accident. Was using the B-1 to lower sugar levels in my blood, and found out the it is also good for peripheral neuropathy. It can wake us up out of a dead sleep sometimes. 


3. Seizures &/or Epilepsy -  "Epilepsy in Ehlers-Danlos syndrome (EDS) has been reported in the literature, but there are no studies that have investigated in detail clinical and electroencephalography (EEG) features in patients with EDS ..." PubMed.gov Long-term prognosis of patients with Ehlers-Danlos syndrome and epilepsy. - http://www.ncbi.nlm.nih.gov/pubmed/24965265
   
   Seizures &/or epilepsy in association with EDS has rarely been reported in literature until recently. Although more articles are being written, it is still unclear what and how EDS plays a roll in seizures and epilepsy. Some have suggested that because of the fragile connective tissue in EDS, this facilitates and adds to the damage creted with a traumatic brain injury. Some very rare cases of genetic epilepsy has been possibly linked to EDS as well, but not confirmed as of yet. I bring this up because I have middle temporal lobe epilepsy. It was only diagnosed during testing within the past year, even though I have been having seizures, I now realize, since early childhood. This may be due to a bad head injury I received when I was about 7 or 8 years old. The damage, and the subsequent epilepsy may have been facilitate by my EDS. We are not sure. Again, Chicken and/or Egg.


4. Vagus Nerve Issues - I have noticed that I have a great deal of Vagus Nerve problems that affect my heart, breathing, stomach and intestines. There is some mention of this type of problem with EDS-HT, but I have not found much written or discussed on this issue. I think it may still be in debate as to the connection between EDS-HT and multiple Vagus Nerve problems (do see Vasovagal Syncope below for another Vagus Nerve problem that is quite recognized as part of EDS-HT).
   
   Some of the worse of it is when the nerve is stimulated and a huge responses is enlisted up and down the nerve, from inside the brain, all the way down to the transverse colon, and vise versa. Sometimes the IBS cramping irritates the nerve, which then causes: Severe cramping and nausea in the pit of the stomach; Rapid heart rate; Shallow rapid breathing; Lightheadedness and reeling vertigo; The sudden filling up of the mouth with saliva; And the twitching and pulling up of the left corner of the mouth. All these things happen at once on a grand and disconcerting scale.


5. Cognitive Issues, Memory Loss, & Aphasia - These issue usually come under the heading of 'brain-fog', which include, but are not limited to: "Short-term memory loss; Inability to conjure up old memories - long-term memory loss; Loss of attention; Decline in problem-solving skills; Loss of organization; Lack of concentration and/or focus; Fatigue; and Confusion." Not much has been written about this in connection to EDS-HT, but it has come up, through the years, in both medical research, and reports from patients themselves. Both my daughter and I struggle with these issues everyday. Often they can be overwhelmingly debilitating.
   
   As to the Aphasia, I began to have issues with this at age 21. It is hard to know if the Aphasia is part of the EDS-HT, or the head injury I received as a child, or is part of the seizures and epilepsy that I have. Regardless, it is a constant burden and often a concerted struggle to simply function and communicate.  


6. Somatosensory Amplification - "is a tendency to perceive normal somatic and visceral sensations as being relatively intense, disturbing and noxious." This seems to come and go, is rare, and is dependent on other mitigating circumstances. It manifest as not being able to handle crowds, oud noises, to much sensory imput, and so forth, to varying degress, and at unpredictable times and places.


7. Sleep Disturbance -We have three sleep disorders that we share, and I have now an additional fourth. Besides chronic pain and flareups disturbing our sleep or waking us up, we also have: 
   
   • Alpha Wave over Delta Wave Sleep Disorder: "Some researchers have studied Fibromyalgia and sleep, confirming the disordered sleep physiology in Fibromyalgia. This abnormality has been identified as an alpha-wave intrusion sleep anomaly, which occurs during NREM stage-4 sleep. This intrusion into deep sleep causes the patient to awaken or to be aroused into a lighter level of sleep." This was discovered during sleep testing. I was told it is common for chronic pain patients.
   
   
   • Restless Leg Syndrome - " is a neurological disorder characterized by an irresistible urge to move one's body to stop uncomfortable or odd sensations. It most commonly affects the legs, but can affect the arms, torso, head, and even phantom limbs. Moving the affected body part modulates the sensations, providing temporary relief. RLS sensations range from pain or an aching in the muscles, to "an itch you can't scratch," an unpleasant "tickle that won't stop," or even a "crawling" feeling ... Additionally, most individuals with RLS suffer from periodic limb movement disorder (limbs jerking during sleep), which is an objective physiologic marker of the disorder and is associated with sleep disruption." - https://en.wikipedia.org/wiki/Restless_legs_syndrome
     
     Not only does this happen to my daughter and I, but it is also impossible for me to lay or sleep with anyone in the bed. Any impingement of my body causes it to first ache, then begin to shake, then twitch wildly until I un-impinge that part of the body, or leave the bed entirely.
   
   
   • Delayed sleep-phase disorder (DSPD) - " is a dysregulation of a person's circadian rhythm (biological clock), compared to the general population and relative to societal norms. The disorder affects the timing of sleep, peak period of alertness, the core body temperature rhythm, hormonal and other daily cycles. People with DSPD generally fall asleep some hours after midnight and have difficulty waking up in the morning ... Depending on the severity, the symptoms can be managed to a greater or lesser degree, but there is no known cure. ... DSPD is also genetically linked to ADHD by findings of polymorphism in genes in common between those apparently involved in ADHD and those involved in the circadian rhythm and a high proportion of DSPD among those with ADHD ... Attempting to force oneself onto daytime society's schedule with DSPD has been compared to constantly living with jet lag ... Often people with DSPD manage only a few hours sleep per night during the working week, then compensate by sleeping until the afternoon on weekends ... People with DSPD can be called night owls. They feel most alert and say they function best and are most creative in the evening and at night. People with DSPD cannot simply force themselves to sleep early. They may toss and turn for hours in bed, and sometimes not sleep at all, before reporting to work or school ... DSPD patients who have tried using sedatives at night often report that the medication makes them feel tired or relaxed, but that it fails to induce sleep ...People with DSPD have difficulty falling asleep before their usual sleep time, even if they are sleep-deprived. Sleep deprivation does not reset the circadian clock of DSPD patients, as it does with normal people ... In most cases, it is not known what causes the abnormality in the biological clocks of DSPD patients. DSPD tends to run in families, and a growing body of evidence suggests that the problem is associated with the hPer3 (human period 3) gene." - https://en.wikipedia.org/wiki/Delayed_sleep_phase_disorder
     
     This has been a nightmare for my daughter and I until I discovered this. Now we let our bodies tell us when they need sleep and also try to help or maintain at least some sort of routine within those needs. Though, as is common with DSPD, we often have what I like to call as "White Nights" where we do not sleep at all. This is part of a cyclical pattern with DSPD.
   
   
   • Sleep Apnea - Soft pallet tends to sag due to stretchy skin. I now have it, my daughter does not.
   
   
8. Chronic Fatigue Syndrome - "Multiple studies demonstrated that chronic fatigue is a major contributor to disability in EDS-HT. Associated complaints include muscle weakness, sleep disturbance, and other features of chronic fatigue syndrome."
   
   This is a tough one. It is like the chicken and the egg, which came first: Did the pain come first then the fatigue, or was it the other way around. Either way, we suffer from many of the symptoms of classical Chronic Fatigue Syndrome, so I am listing some of them here because they heavily impact our daily lives, even though I still do not believe that we actually have CF, or that CF is the actual cause of these symptoms in us. Besides those same symptoms already listed in this post, we have:
   
   • "Impaired memory or concentration, often bad enough that it is referred to as brain fog" (feeling like one is in a mental fog) Another overlapping condition and cause.
   
   
   • "Post-exertional malaise, where physical or mental exertions bring on 'extreme, prolonged exhaustion and sickness' "
   
   
   • "Sore throat, frequent or recurring"
   
   
   • "Tender lymph nodes (cervical or axillary)"
   
   
   • "Allergies or sensitivities to foods, odors, chemicals, medications, or noise" (not our biggest issues, though I tested positive for over 250+ air born allergens, and of course Celiac disease, and asthma.)
   
   
   • "Chills and Night Sweats" - Also a difficult one. We have several conditions that cause this, and I am also diabetic, which can cause this as well.
   
   
   • "Visual Disturbances (sensitivity to light, blurring, eye pain)" - This is so bad in our young adult years that we have to have sunglasses all the time, else our eyes swell up and water heavily until we can not even open them. I have found that with age this is almost no longer a problem, but my daughter suffers from it all the time still.
   
   
   - https://en.wikipedia.org/wiki/Chronic_fatigue_syndrome#Symptoms


9. Headaches -  "migraine seems the most common form of headache. However, joint highpermobility, especially in form of cervical spine instability, is a possible trigger for other headache disorders, including new daily persistent headache, cervicogenic headache, and neck-tongue syndrome."  - Besides always having a headache, ranging from background pain, all the way to major headache, my daughter and I also suffer from migraines as well. I did in my 20's and 30's, My daughter started at age 9 with impacted sinuses that were infected and blocked for 4 years before the right ENT doctor discovered it and did her sinus surgery. Now she has the same kind of migraines I had in my 30's. She is now 36. Hopefully they will fade with menopause, like it did for me, which we start in our late 30's.


10. Secondary Dysmenorrhea "is pain caused by a disorder in the woman's reproductive organs. These cramps usually begin earlier in the menstrual cycle and last longer than common menstrual cramps." My daughter and I have had these all our lives, as well as intense PMS. "It is now clear that women with EDS-HT commonly suffer from irregular menses, meno/metrorrhagias, and severe dysmenorrhea" 


11. Impaired Proprioception - "Proprioception is permanently impaired in patients that suffer from joint hypermobility or Ehlers-Danlos Syndrome" Wikipedia
    
    Propricoception is the bodies ability to sense where we are in space in relation to our own body. According to Wikipedia, it is "the sense of the relative position of neighboring parts of the body and strength of effort being employed in movement. In humans, it is provided by proprioceptors in skeletal striated muscles (muscle spindles) and tendons (Golgi tendon organ) and the fibrous capsules in joints." When this is impaired, we tend to reach out and miss what we are grasping for, or when we go to itch our nose we poke ourselves in the eye instead. Or we try to pick up something, like a glass of water for a drink, and throw the water in our face from to much lift force. This is common with EDS and gets worse with age, as it has done with my daughter and myself. It can be funny, but often can cause problems with walking, moving, driving, holding a child, and other daily tasks. It has become a real daily problem for me now, especially with keeping my grasp on things.


12. Neuromuscular - With age, increased pain, osteoarthritis, and other age related issues, I am now experiencing significant muscle weakness, especially in the legs, poor balance and near falls.

- Conditions in the psychological category we deal with are often more subtle and overlapped:

1. Psychological Distress - a high rate of anxiety, depression, anger, and interpersonal concerns. Not unusual with chronic pain, sublexations, disturbed sleep and sleep deprivation. BUT according to the NIH article referenced here on EDS-HT: "Although psychological difficulties may be secondary to chronic pain and disability, ostracism, and avoidance of relationships, a primary (i.e., pleiotropic) and/ or organic contributor may coexist ... [I]t is possible that, in the future, some behavioral/psychological characteristics could be unexpectedly linked to specific functional features,such as dysautonomia and lack of proprioception." mostly depression with low serotonin. Chronic pain uses up your natural serotonin, thus increasing your depression and making it tougher to treat.
   
   • Anxiety & Panic Disorders - SSRIs have helped me greatly with these problems, but they never completely go away, and can flareup under stress, unusual circumstances, and triggering events.
   
   
   • Deep Clinical Depression - Chronic pain uses up your store of Serotonin, which increases your depression and makes it harder to treat, as well as increases the sensation of pain. A nasty closed loop of sorts. This is one of those conditions that overlaps into several areas, such as: experiencing pain and physical limitations, brain chemistry, constant fatigue, and life circumstances, can all cause or deepen depression.
   
   
   • Low Dopamine - I first noticed dopamine issues in high school, though I did not know that was what I was experiencing. This manifests as a deepening inability to motivate one's self, some times so bad that it kills the motivation to even move. I started to notice in high school that at times I could not get myself to move. I would have to wait until someone passed by so that I could grab onto their kinetic energy and use that to get up and start moving again. I now take Wellbutron to deal with that, and for the most part it helps, though I can fall into occasional funks, as I like to call them. My daughter experiences these infrequently.
   
   
   • Cognitive Issues, Memory, Aphasia, & The Emotional Issues that go along with dealing with these confusing, and often disruptive occurrences. Again, an overlapping condition that causes additional problems and issues, making life very difficult on a daily basis.
   
   
   • Hallucinations - I am not sure this comes under EDS-HT, but it is something that does happen every now and than. My daughter has visual ones and I often have auditory ones.

3) Cardiovascular and Pulmonary Features - "Besides such minor structural heart anomalies, dysautonomia is, by far, the most clinically relevant cardiovascular feature in EDS-HT ... Subsequent clinical and experimental studies drew attention to dysautonomia as a likely underlying mechanism for various visceral complaints in EDS-HT." We also have heart/chest palpitations at rest or on exertion, numerous and often painful thudding PVCs (Pre-Ventricular Contractions), sometimes as often as every other heart beat, with shortness of breath as well. 

• Mild Mitral, Tricuspid, & Aortic Valve Regurgitation - "is observed in ∼25% patients with classic EDS or EDS-HT" When I turned 30 a very mild, class 1, heart murmur was found. As to how or if this causes any problems, or acerbates other problems, such as my other heart issues, and blood pressure, I do not know. Despite this unknown factor, I thought it should at least be included here since I do have other, unknown chest pressure, fluttering, and skipped beats that I am not sure of as to their causes.


• Dysautonomia -  "is an umbrella term for various conditions in which the autonomic nervous system (ANS) does not work correctly. Dysautonomia is a type of neuropathy affecting the nerves that carry information from the brain and spinal cord to the heart, bladder, intestines, sweat glands, pupils, and blood vessels." Of the primary symptoms present in patients with dysautonomia, my daughter and I suffer from the following on a daily or chronic basis. Some are overlapping from other conditions, as you will see:
  
  • Excessive fatigue - Fatigue comes under many other headings as well.
  
  
  • Excessive thirst (polydipsia) -  Chronic dehydration is a daily issue.
  
  
  • Lightheadedness or dizziness, often associated with orthostatic hypotension (abnormally low blood pressure on standing), sometimes resulting in syncope (fainting) - see below
  
  
  • Rapid heart rate or slow heart rate - see below under Supraventricular Tachycardia 
  
  
  • Blood pressure fluctuations - see below under Orthostatic Intolerance 
  
  
  • Shortness of breath with activity or exercise, or simply walking from room to room in my own home. This situation occurs without the accompanying PVCs, as stated above. That is a different situation than this.
  
  
  • Distension of the abdomen - hard to know if this is caused by Dysautonomia, or Celiac, or IBS, or all three. 
  
  
  • Gastroparesis (delayed gastric emptying) with associated nausea, acid reflux and vomiting - besides reading more detail on this subject below under Hiatus Hernia, I also have reverse peristalsis in my esophagus. As my late Doctor Duane Olson said when we found this out, "If your body can do it backwards, or in the opposite direction, it will!" See more below under Gastrointestinal Features as well.
  
  
  • Heat intolerance and/or Exhaustion brought on with activity and exercise - my daughter and I also suffer from this every time we are in direct sunlight during the warmer months. It happens very rapidly. I noticed this in my early teens when suddenly I could no longer sun bath with out getting violently sick with in minutes of exposure. Winter seems to be alright for the most part, as long as we do not get over heated. 
  
  "Sympathetic nervous system-predominant dysautonomia is common in fibromyalgia, chronic fatigue syndrome, irritable bowel syndrome, and interstitial cystitis, raising the possibility that such dysautonomia could be their common clustering underlying pathogenesis." - Wikipedia - https://en.wikipedia.org/wiki/Dysautonomia#Signs_and_symptoms 


• Orthostatic Intolerance "occurs in humans because standing upright is a fundamental stressor and requires rapid and effective circulatory and neurologic compensations to maintain blood pressure, cerebral blood flow, and consciousness. When a human stands, approximately 750 mL of thoracic blood is abruptly translocated downward. People who suffer from OI lack the basic mechanisms to compensate for this deficit. Changes in heart rate, blood pressure, and cerebral blood flow that produce OI may be caused by abnormalities in the interactions between blood volume control, the cardiovascular system, the nervous system and circulation control systems." My daughter and I get sudden vertigo and dizzy spells and have to sit down quickly or fall over. My daughter gets this daily. I use to, but not as much now. 


• Vasovagal Syncope - a form of Orthostatic Intolerance that "is a malaise mediated by the vagus nerve. When it leads to syncope or "fainting", it is called a vasovagal syncope ... Vasovagal syncope occurs in response to a trigger, with a corresponding malfunction in the parts of the nervous system that regulate heart rate and blood pressure" The "heart rate slows, blood pressure drops, ... resulting [in a] lack of blood to the brain ... Fainting occurs with the loss of oxygen to the brain... " Just before dropping into a dead faint we sometimes experience: "lightheadedness, nausea, ... ringing in the ears (tinnitus), an uncomfortable feeling in the heart, fuzzy thoughts, confusion, a slight inability to speak/form words (sometimes combined with mild stuttering), weakness" and severe vertigo. Once we fall down, or dramatically lower our head, "blood flow to the brain is immediately restored, allowing [us] to regain consciousness" or, if we are lucky, stop the symptoms before actually fainting.
  
  As to the trigger, it varies for us, and often, at least for me are unknown, except for one: Laughing. I recently experienced severe syncope when I started to laugh. It repeated two more time with in the hour. Apparently this is quite rare. It has happened before, but not so intractably as it was this last time. Still laughing and fainting has been extremely rare for me. Most of the time, when this happens from other than laughing, we can stop the process by simply lowering our heads, or laying down til the symptoms pass. 


• Postural Tachycardia Syndrome "has been defined as the most specific form of cardiovascular autonomic dysfunction in EDS-HT" - Basically, the heart races when you change position, like laying down, sitting or standing up, or even just rolling over in bed. This happens all the time. My daughter and I started to notice this in our early twenties. 


• Supraventricular Tachycardia - " is a cardiac arrhythmia arising from improper electrical activity of the heart. It is a type of tachycardia (rapid heart rhythm)" and is a condition I have. I have not found a lot of info on this in relation to Ehlers-Danlos, but I have found a few medical research reports that do mention finding this among patients with EDS-HT.


• Asthma - "Soyucen and Esen postulated that EDS-HT may predispose to asthma. In fact, EDS-HT may lead to persistent childhood wheezing by causing airway collapse through a connective tissue defect affecting airways structure. Further studies are needed to confirm this hypothesis." - My daughter and both acquired asthma in our early teens, that has progressed our entire lives. I have noticed that being on a Gluten Free diet has reduce my episodes and their severity, though the disease does seem to be progressive still.
  

4) Skin Hyperextensibility - "is certainly the best known cutaneous feature of the various EDSs ... Skin hyperextensibility defines the ability of the skin to be stretched beyond normal limits and immediately returning to its original state without forming transient redundant folds." This contributes to easy bruising, and tearing of the skin. When ever I go out, I come home with bruises all over my legs, and no idea how I got them. We also scare badly and get stretch marks easily.

"Minor wound healing defects and capillary fragility are further common features in EDS-HT. The former may present as atrophic, nonpapyraceous scars, compared to the “cigarette-paper” and crumpled scars observed in other EDSs."

 I also scar very easily. My scars also get that papery, wide slash look and feel.

Other problems we deal with daily due to this skin fragility are:

1. Varicose Veins, Bruising, & Hernia .... Since our skin is fragile, we tend to bruise really easily, get varicose veins, and we are pron to herniation. I just had surgery for one.


2.  Hiatus Hernia - Our stomach actually slide up through the diaphragm, into our chest cavities, causing not only a Hiatus Hernia, but reflux disease (also see Gastroesophageal Reflux below under Gastrointestinal Features. This also causes daily nausea, stomach pain, and in our teens, daily vomiting for years on end. The esophageal sphincter also spasms closed and/or open at different times of the day. When mine use to spasm close it would shoot stomach acid into my throat, that would then drop down into my lungs. Burning everything it touched. My daughter has a milder case of this. For me, I spent 8 years not only shooting acid into my throat, but often all the way up into the upper vault of my sinuses, before dropping down into my lungs, often while standing. At night the sphincter would spasm and either shoot acid into my lungs, or spasm open and let acid pour slowly into my lungs, all while asleep. Sitting up, or on a slant, did not help at all, and caused severe muscle and joint pain. Finally after 8 years of burning my lungs out, and getting instantaneous lung infections every time, I finally burnt out the nerves in the back of my throat and in the bronchi of my lungs. I began to drown in my sleep. I was lucky, I would cough up the acid, and spray it on to the front of my throat, which still had nerves, and the sudden searing pain would wake me up before I actually stopped breathing. With in 30 days, I was cut from stem to stern and had a mesh collar placed around the esophageal sphincter to keep it shut. Now, it is so tight that even water can not get through. So when I drink, I have to bear down and push it through. The same with food. Occasionally I will be drinking and the sphincter will not open and to prevent the liquid from filling up my esophagus and then spilling into my lungs, I have to bend forward and quickly pour the liquid out of my throat and mouth. Such a sight! So very lady like, especially in front of strangers!
   
   Even with this collar, which I have had now for 25 years, the stomach still crawls up into the chest cavity (both my daughter and I), and causes severe spasming pain. Like you are being impaled, and the bottom tip of your sternum is being drawn backwards, through your upper abdomen, to lay up against your spine. Hence the feeling of being impaled. In fact, when the surgeons opened me up to place the mesh collar around the top of my stomach, they could not find it. They cut me from the tip of my sternum, all the way down and half way around my belly button looking for it. They kept saying "Now we know she has a stomach, but where the hell is it." They finally found it hanging out up against my spine, behind everything else. Now a days, my Chiropractor can sometimes pull my stomach down, but it is getting harder and harder to do so. On top of all that, my last Upper GI series showed that I had developed recurring scare tissue that formed a flesh webbing across the entrance to my stomach. Created by the constant re-fluxing. That meant that in order to swallow properly I had to push down on the food in my esophagus and rip through the webbing to push the food into my stomach. Even after the surgery I believe this is still an issue, though I do not remember if the last GI series was before or after the surgery. All I know is that sometimes when I push my food through the tight opening at the esophagus sphincter, it still often feels like I am once again having to rip though the webbing.
   
   The impaling pain is not as often as before the surgery for me, and my daughter has rarely had it, but we still end up with the diaphragm spasming from the stomach herniation so badly that it is difficult, if not impossible to take a deep breath. The diaphragm pulls so hard on the ribs in our backs that it often dislocates, or sublux  the rib heads from the spine. Now THAT really hurts. Like being knifed in the back. This happens one or more times a month, and the really bad ones can last for weeks, even months before going back into place. Manipulation of the rib head often does not work anymore. The muscles in the back spasm so tight that the rib head can not be moved, or massaged back into place.


3. Organ Shifting - and pelvic floor muscle dysfunction. I have been having more and more issues with this, in the form of pain and/or discomfort from what appears to be crowding and pressure on and near my pelvic floor.


4. Vocal Cord Fragility - This can sometimes, with age, cause a hoarseness to our voices. It often destroys the ability to sing as singers grow and get older. I do experience some hoarseness, but I have had the great good fortune to still be able to sing. Because of this problem, I take very good care of my vocal cords. Staining them easily can and has happened, even from just stress alone. So far, my singing voice still works, though it is getting harder to maintain it.

5) Gastrointestinal Features - Besides constant stomach and abdominal pain, we have:

1. Functional Gastrointestinal disorder (IBS) - "A recent study demonstrating an increased rate of Celiac Disease in JHS/EDS-HT adds complexity to the study of connections between connective tissue and bowel function, which appear also mediated by an abnormally functioning immune system." Before receiving our Celiac diagnosis in 2005, we both had intense issues of debilitating, often crippling abdominal pain (knocking me to the floor and unable to move type pain), bloating so bad that I was getting stretch marks and, I was also drop dead anemic. Even after going on a Gluten Free diet, we still have some issues, and still have IBS, but less painful and not as often, rather than daily as before. This is difficult because of the use of opiates, which cause constipation, then having Celiac on top of that causing both constipation and/or diarrhea with even trace gluten contamination. We also have Gurd/ Hiatus Hernia which causes nausea as well. I can usually tell it is the IBS when it irritates the Vegas Nerve and then I suddenly get over whelmed with not only nausea, but extreme vertigo causing me to loose my balance and the world spins, my heart pounds in my chest, I sweat, I have trouble breathing, and my mouth fills with saliva (all symptoms of a severely irritated Vegas Nerve).


2. Gastroesophageal Reflux & Gastritis "may be symptomatic despite maximal doses of proton pump inhibitors with additional H2-blockers and acid-neutralizing medications." This has been horribly true for both my daughter and myself. The full story of this is detailed under Hiatus Hernia just above.


3. Urinary Stress Incontinence - It is due to insufficient strength of the closure of the bladder. With EDS all of our sphincter muscles are weakened, and often spasm either open or closed as well. Plus the very stretchy nature of our connective tissue, also contributes to this.

6) Mucosal and Oropharyngeal Features - "Increased mucosal fragility can lead to spontaneous epistaxis and, more commonly, gingival bleeding [Bleeding Gums], which is often elicited by teeth brushing. Repeated gingival damage due to increased mucosal fragility may progressively cause recurrent gingival inflammations/infections, gingival retractions, and, eventually (although rarely), true parodontopathy with premature tooth loss."  Bleeding gums, and all that comes with it, including constant gum pain, is a chronic issue we deal with, as well as:

1. High-arched / Narrow Palate & Shortened Jaw - Now this is an interesting one. In of themselves, they do not cause a problem, BUT they do cause dental crowding and overlapping of the teeth (causing chronic tooth and jaw pain), and may also be the cause of our teeth being pushed up into our sinuses. The up side of this though, is my ability to sing so well. The down side being that this and my long roots, have caused at least one of my teeth to puncture one of my sinuses. 


2. Dental Problems & Early Tooth Loss - Recurring cavities due to weakened dentin in the teeth and tooth lose.
   
   Due to this, my daughter lost all her teeth, due to infections in the bones of her upper and lower jaws, lost all her teeth by age 23. Prior to that, her fillings would fall out soon after getting them due to the weak dentin.
   
   To date, I have lost 3/4 of my molars for the same reasons. My upper teeth are pushed up into my sinuses, and when the sinuses become infected and/or swollen, they will push the upper teeth downward and loosen them temporary, making it hard to chew and simply close my mouth completely. Before my daughter lost all her teeth, she had the same problem.  

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Well, what can I say. This took six weeks to put together. With all the overlapping issues and duplications of signs and symptoms, I did my best to organize and narrow it down to those things that are the greatest, or most annoying. I am sure I have forgotten things, but I think for the most part, this is a relatively complete list of all the problems and issues that my daughter and I deal with because we have EDS-HT .......

But .....

There is still more! Though this list deals only with the problems of living with EDS-HT, my daughter and I also have 5 or more autoimmune disorders, a slew of endocrine problems, and I have two or more brain injury issues. So besides all that I have listed here, we also have so much more to deal with on top of all this ....

But ........

That is for my next post.

Lilith

 

Update .... on the list ....

I just looked at my last post and realized that it was over a month ago. What have I been doing? Well besides normal day to day stuff, I have been working on THE DREADED LIST.

The most frustrating thing about our condition is that it is not only complex, but also confusing and overlapping. Take for instance, one of the conditions that many people with EDS-HT have along with the hypermobility, is that they often also suffer (or seem to suffer) from Chronic Fatigue Syndrome. Now, I went and looked up the symptoms of Chronic Fatigue in Wikipedia to use for the "list", and Nadine and I have every single symptom listed. One would think that that would be a really good indicator that we have CF, AND we have at some point in our lives both been diagnosed with CF. BUT do we really have CF, or, do we have so many overlapping symptoms from all the other conditions we have that it mimics CF, when in fact we do not? When people describe what it is like to have CF, the magnitude and quality of their fatigue and the flu like feelings they experience, Nadine and I actually do not fit that exact picture. That is not the type or quality of our chronic fatigue, and though we feel sick most of the time, and some times we say it is like have the flu, that has more to do with feeling under the weather and having constant pain in our joints and muscles, then it does with having the quality of symptoms people with CF actually live with.

Over the past month I have been sorting all this mess out, and writing and rewriting the list. I have also found that just writing a list of medical conditions in no way informs people of what our life is actually like living with these conditions. I mean, if I just list the medical term Orthostatic Intoleranc, that in of itself tells you nothing about what that is or what it is like to live with that condition, even if you take the time to look it up. So what I have been doing with the items on the list is to give definitions, often detailed ones, along with what our experience has been with said condition. This take time and often drags up emotional issues that cause me to have to stop and take a break from working on the list.

So, I am well over 3/4 done, and I am now doing a lot of simplification, and clean up. To say the least, the list is right now about nine pages long ...... sigh .....