Happy Holidays!

Happy Holidays everyone. I have taken a hiatus from posting and finishing part 2 of the secondary list for the holidays. Not enough spoons (Spoon Theory), and this final part delves deeply into genetics, and bio-chemistry, both heavy subjects. I plan on getting back to writing after the first of the year, but wanted to touch base with you all, be you one or many, and wish you a Happy Holidays and New Year.

Lilith

BUT WAIT! ..... There's more! Part 1

Yes, there is more! The "Dreaded List" was only about what my daughter and I deal with because we have Ehlers-Danlos Syndrome Hypermobility Type (EDS-HT).

On top of all the things that I listed for our EDS-HT condition, my daughter and I also deal with 2 major autoimmune diseases and 3 immune/possibly-autoimmune diseases, as well as an Endocrine System Metabolic Syndrome that effects our Thyroid, Pancreas, blood sugar, and so forth, and runs through the female line of my Sicilian family. I am not talking about just diabetes, but a whole cascade of hormone problems relating to the Endocrine system as a whole. As far as we can discern, these categories do not belong to the vast array of disorders that are linked or caused by EDS-HT, even though there is mounting evidence that EDS-MT may, in of itself, be an autoimmune disease as well. These categories seem to stand on their own, though they do cross over in some cases, such as with the thyroid.

AUTOIMMUNE DISORDERS:

1. Hashimoto's Thyroiditis: "or chronic lymphocytic thyroiditis is an autoimmune disease in which the thyroid gland is attacked by a variety of cell- and antibody-mediated immune processes, causing primary hypothyroidism (low thyroid). It was the first disease to be recognized as an autoimmune disease. It was first described by the Japanese specialist Hakaru Hashimoto in a paper published in Germany in 1912." - https://en.wikipedia.org/wiki/Hashimoto's_thyroiditis (Hashimoto's comes under both our autoimmune list AND our endocrine metabolic syndrome list).
   
   My daughter and I seem to need to be treated with not only T-4 (standard thyroid hormone), but T-3 as well (the hormone that our body is suppose to convert T-4 into so that it can be used, but does not). Why this is so is still a mystery, and the use of T-4/T-3 to treat low thyroid is still a controversy in the medical community, but many studies and many more personal antidotes show that those who take both like it and say they do better (as we did).T-3 when taken with some SSRIs (anti-depressants often called: Selective serotonin re-uptake inhibitors) help the anti-depressant relieve depression better. Depression is a major symptom of low thyroid to begin with. According to the American Thyroid Association: "The extent of T4-to-T3 conversion varies from one organ to the other, but in some organs, like the brain and pituitary, this process provides most of the T3." In light of the controversy of T-3 treatment, I find that statement especially interesting. There is growing research about an auto-immune disorder that swells the front portion of the Pituitary, and its role in a cascade of auto-immune disorders throughout the endocrine system in some people and their families. This "cascade of auto-immune disorders" nearly matches the auto-immune diseases that my daughter, my family, and I have, which may explain why treating our Hashimoto's with T-3 is successful. The down side is that currently the only way to diagnose this particular pituitary disease is by autopsy. Not something we are yet willing to personally sacrifice at this time ..... at least while still alive, that is ....
   
   Another unusual connection we found was that when we discovered the Celiac disease we have, and went on a gluten free diet, my daughter's thyroid eventually recovered and she no longer has to take thyroid medication and does not seem to have any of the symptoms any more. Researching this the other day I found that this is not new nor abnormal. There are still studies going on about it and why, but there seems to be enough reported occurrences to warrant further study and hope for those in the early stages of Hashimoto's. The link between Hashimoto's and Celiac disease is already well established. Unfortunately, my thyroid was apparently to far gone to recover, and still gets worse with each passing year despite sticking to a strict gluten free diet.
   
   Some of the symptoms my daughter and I, on the average, suffer(ed) from with our Hashimoto's are/were:
   
   • Low Normal Thyroid Level Test Results: I went over 20 years un-diagnosed and untreated for my Hashimoto's because my tests always came out very low normal. Virtually right on the low /normal thyroid line. I had studied the disease and the symptoms, knew I had it, but was ignored by all my doctors because of the test results of my thyroid levels. This is particularly disturbing in that, according to Johns Hopkins Medical of Baltimore: "Untreated hypothyroidism may lead to anemia, low body temperature, and heart failure." Long after I was finally diagnosed my Endocrinologist said that when he was a young doctor he was a purely numbers man, but after 20 years he became a doctor who looked at the numbers, then asked the patient how they felt. He would then, depending on this info, do a trial hormone T-4 treatment and see if it helped and go from there. It was from patients like my daughter and I that he learned that the numbers could be deceiving. So deceiving that in my daughter and mine's case, she had low normal, but tested positive for the anti-thyroid anti-body, and I, who was by then showing very low thyroid levels, came up negative for the anti-thyroid anti-bodies (which 15% of all Hashimoto's patients seem to do). We now joke that if there is a % of patients that will not show up on a test, even though they have the disease, I will be in that percentile. It happens to me a lot! As I mentioned in one of my earlier posts, my late doctor laughing stated that if my body can do it backwards, it will! So far, that seem to still be true ....
   
   
   • Fatigue: The Hashimoto's seems to become active during puberty, or for my family, during high stress and/or serious illness. For my daughter and I, it was puberty. As part of that, we became extremely tired all the time, no mater how much we slept. By the time my daughter was 14 or 15 she could barely get out of bed. I suspected she had my thyroid disease, but her pediatricians would not listen to me. It took firing them and taking her to my rheumatologist at the age of 16 to get her diagnosed. The minute she started taking the thyroid pills, she woke up and got our of bed for the first time in 2 years. I was not that bad, but I was exhausted for over 20 years before my thyroid pooped out and THEN I was believed, and began treatment. It was horrible having all the major systems and not being able to get the proper treatment because of a faulty understanding of the test results in relation to the disease.
   
   
   • Weight Gain: As children, my family is super skinny. Come puberty, and we not only begin to put on the normal weight needed to trigger puberty, but we never stop and no dieting in the world will stop the weight gain.
     
     One of the things about all this that I still get from doctors, and which still chafes me, is the often violent and snarling accusation of self-dilution from doctors over my claim that going for 20 yeas un-diagnosed and untreated with Hoshimoto's is what was the major cause of my initial weight gain. Why? Because since starting treatment I have yet to loose weight, thus, A-huh!, it obviously can not be true, for if it was, I would have lost weight. If I try to talk about the fact that I was a dancer in intense daily training, and dieting at the same time when I first gained weight, as well as about the complex nature of my condition and endocrine system, and the generations in my family afflicted with this, my claim is summarily dismissed and I am contemptuously snub as someone who is oblivious to the truth: That I eat to much and that, and only that, is and was the cause for my weight gain. Discussion over! (see more on this generational phenomenon in my family below in the Endocrine System Metabolic Syndrome section).
   
   
   • Cold Intolerance: Being cold, and being susceptible to the cold, has been a life time issue since puberty. It was worse before we were treated for the Hashimoto's. And, it was also not an issue at all during menopause for me. It was rather nice walking around during the winter with my internal heater keeping me warm!
   
   
   • Low Basel Body Temperature:  Besides feeling cold all the time, low basal body temp is a known symptom, and problem. It is popular right now to equate low basal temp with proof of low thyroid function. I tend to agree with most scientist and doctors that that is a mistaken use and understanding of the low temp in hypothyroidism. Yes, you can have a low body temp with hypothyroidism, but in of itself, that alone is no proof. It needs to be in conjunction with other symptoms, physical features, and test results. I had the extreme low normal thyroid level, the symptoms and physical features listed here, AND a basal temperature of 97.0 F. Well below the new normal range. All taken together it was obvious what was going on, but back in the 1970-90s, doctors relied on the test numbers only and ignored what the patient was actually displaying and experiencing, especially if you were a woman, and heavens forbid, overweight while being female as well. Today, my basal temp is higher, but still lower than 98.6 F, usually by one whole degree more or less, on average.
   
   
   • Sparse, Coarse, and Dry Hair: Not sure about this because I think thinning hair is just an inherited feature of my mother's family. But if I do not take extremely good care of my hair, I do get this very badly. And besides, my daughter's hair is thick and luscious, and below her waist. She takes after her dad, lucky girl!
   
   
   • Heavy Menstrual Flow or Irregular Periods: >My daughter and I have/had this "in spades".
   
   
   • Depression: Yap, here it is again. So much of what we deal with have "depression" as one of the symptoms. Which is why it is so hard to treat in us.
   
   
   • Droopy Eyelids: I have had this since puberty. Doctors still ask if I can see alright; does it interfere with my ability to see. Nope, not that I can tell. Though it does keep the sunlight from hurting my eyes so much.
   
   
   • Goiter: Despite having all of the above, I also had a small goiter that was not found until I saw my first endocrinologist as an adult. He was surprised that it had not been found before. I always wondered, and I asked about why this thing called the thyroid in my throat clicked back and forth across my esophagus. It was a bit painful at times, but mostly annoying and it would catch sometimes before popping over to the other side when I turned my head. I simply got snickers from the doctors examining me (nearly all male), and was told that I just had a rather masculine Adams Apple. Since going on hormone treatment, my enlarged thyroid is now all gone.


2. Celiac Disease: Oh Celiac, oh Celiac, how do thee embrace my life? Let me count the ways ... no really, let me! Of all the things that I thought were medically wrong with us, I truly never thought it would be the inability to consume gluten that would be one of the biggest culprits. I am half Italian, for Christ's sake, and raised on my Italian-American mother's wonderful cooking! We lived on pasta and sour dough french bread most of our lives! They were the mainstays of our diet. I now shutter when I think about it.
   
   Just what is Celiac disease? I ask you this because with all the info and hysteria floating around about gluten, most people totally miss-understand it, or simply deny it even exists, even many doctors still today pooh pooh it. Gluten gets a bad rap. People equate it to a toxin, they believe they would be healthier without it, and other such misinformation. Gluten, is a very important and viable source of plant based protein! UNLESS you have the genetic autoimmune disease for Celiac and/or Gluten Sensitivity. "Gluten is the composite of two storage proteins, gliadin and a glutenin, and is conjoined with starch in the endosperm of various grass-related grains. Worldwide, gluten is a source of protein, both in foods prepared directly from sources containing it, and as an additive to foods otherwise low in protein ... True gluten is limited to certain members of the grass family. The stored proteins of  maize and rice are sometimes called glutens, but their proteins differ from true gluten." - https://en.wikipedia.org/wiki/Gluten
   
   Gluten is NOT a toxin by any shape or means. It is a protein that the immune system mistakes for a undesirable foreign body and sends out anti-bodies to attack and destroy it, if you have the genes in your DNA that do that. IT IS A MISTAKE THE IMMUNE SYSTEM MAKES! I can not stress that enough. Why Celiac is so destructive, and why people get confused about the toxin issue is the fact that the process of destroying the gluten, and some of the by-products from the destruction of said gluten, leave behind chemicals, toxins if you will, that do the actual damage to the villi of the intestines. It is not the gluten that damages the villi by just being present. It is the body's act of destruction that causes the damage, and leaks toxic by-products of that processes into the body as a whole, possibly raising the chances for stomach and other cancers. What is the actual causes of Celiac disease and the damage it does to the intestines and the body itself, is both complex and illusive. There are genetic elements, most likely environmental elements (research shows that something changed in the 1950s causing a 10 fold spike in gluten intolerance markers in the blood), other possible chemicals in wheat that cause or contribute to the resulting symptoms and damages (such as FODMAPs, an acronym for: fermentable oligosaccharides, disaccharides, monosaccharides, and polyols.), and so forth. Much research is still needed to understand and treat this disease, BUT until so, gluten is not the big bad that most people think, except for those small % of people that have Celiac disease, or demonstrate a true sensitivity. Eliminating gluten from your diet is not the magic bullet to a healthier life for most people, and can in fact be detrimental to your overall health and nutrition.
   
   I will get off my soap box now, and get on with the matter at hand: How Celiac Disease Impacts My & My Daughter's Lives, & When and Where A Gluten-Free Diet Helped. Looking over the list as provided by the Celiac Disease Foundation, most of it is just a re-hashing of symptoms and disorders I have already listed here above, and in the EDS-HT list. Hence again why my daughter and I call ourselves onions! I will try to make this brief:
   • Gastrointestinal: "Abdominal pain and cramping, bloatedness with abdominal distension (thought to be due to fermentative production of bowel gas) .... As the bowel becomes more damaged, a degree of lactose intolerance may develop. Frequently, the symptoms are ascribed to irritable bowel syndrome (IBS), only later to be recognized as coeliac disease; a small proportion of people with symptoms of IBS have underlying coeliac disease, and screening for coeliac disease is recommended for those with IBS symptoms." - https://en.wikipedia.org/wiki/Coeliac_disease
     
     For me it started out as painful recurring constipation in my teens with bloating and gas, and finally severe abdominal pain that would keep me up all night and/or double me over. Before going on the gluten free diet, I would look down at my protruding, 9 month of pregnancy looking, stomach and ask when I was going to give birth to this thing that I had been caring around for decades. It became so painful that I often wondered if my gut would burst wide open.
     
     Funny thing about all that. Not funny ha ha, funny ironic. During my late twenties and early thirties I had two separate intestinal x-rays (something they use to do as part of a regular physical back in them olden days), both times the radiologist commented on the abundant gas present in my intestines. One went so far as to comment on the fact that he had never seen someone with so much gas before. But when I tried to ask questions about this, because I was also having pain and bloating, I was immediately cut off and told not to worry about it. They actually seemed both upset that they were heard and afraid to answer my question. I always got the impression they were afraid of instilling concern were they thought non was, thus nipping the potential for hypochondria and hysteria to take root. That was about 20 years before we finally realized we had Celiac disease. Thatwas 20 more years of damage, risk of cancer (such as lymphoma), and the aggravation and creation of other debilitating autoimmune diseases.
     
     Later in life, my gut issues developed into constant diarrhea for about a decade (bet you wanted to learn about that one! Ha!), with occasional abdominal pain that I would break out in a sweat, and if I was standing, it would bring me to my knees. Can't tell you how many walls I have slowly slide down, nor the half hour I once spent on the floor of a bathroom because I could not move. No one ever found me. Very scary experience laying there alone, unable to get help and feeling like your gut is going to leap out of your belly like the creature from the movie "Alien".
     
     My daughter had many of the same experiences, but I believe the damage was a lot less because she went on the gluten free diet at the age of 26, where as I was 51 at the time. I still have GI problems because the damage, I believe, was to severe to heal completely, and because of the stomach acid suppressors I take, that I am now very susceptible to bacterial infections (food poisoning) and parasites. I go to two or more Pot Lucks each month, and would get mild food poisoning symptoms for a day or two afterward, including a mild fever. Since I made the connection between the post-lucks, and occasionally eating out, I have begun to be very cautious about the cooked and raw food I eat away from home. I have not had as much of a problem since, save for the three years I had Giardia from a Pot Luck, until I figured out what it was and took treatment ... sigh! Hence, one of the wonderful side effects of untreated Celiac disease and the life long damage, and threat to your health, it can cause.
     
     All in all, the minute we went on the gluten free diet most of our gut issues either cleared up for the first time in years, and in some cases decades, or got extremely better. My daughter and I have been on a gluten free diet for 10 years now, and even the smallest amount of gluten makes all our gut symptoms come back with a vengeance. I also believe that at this point in my life I still suffer from IBS. So to say the least, I am very, very careful these days, but even then mistakes are made. For example, I recently went through a longish bought with returned gut issues and it took months to find the product that was the source of the cross contamination. Once found and eliminated, it once again cleared up, but I am seeing longer and longer lingering symptoms after each gluten contamination incidence, which does not bode well for my GI tract.
   • Malabsorption (In General): "The changes in the bowel make it less able to absorb nutrients, minerals, and the fat-soluble vitamins A, D, E, and K." - https://en.wikipedia.org/wiki/Coeliac_disease
   • Megaloblastic Anemia: "is an anemia (of macrocytic classification) that results from inhibition of DNA synthesis during red blood cell production. When DNA synthesis is impaired, the cell cycle cannot progress from the G2 growth stage to the mitosis (M) stage. This leads to continuing cell growth without division, which presents as macrocytosis. Megaloblastic anemia has a rather slow onset, especially when compared to that of other anemias. The defect in red cell DNA synthesis is most often due to hypovitaminosis, specifically a deficiency of vitamin B₁₂ and/or folic acid." - https://en.wikipedia.org/wiki/Megaloblastic_anemia
     
     About 5 to 8 years (or more), before my daughter and I went on the gluten free diet, I developed a very severe and nearly untreatable case of Megaloblastic Anemia. My doctor explained to me that my bone marrow had stop producing red blood cells at the rate it should, but had no clue as to why. I ended up on, if memory serves me, 7X the normal treatment dose of iron, with no improvement. Then my doctor told me that I should add 500 MG of vitamin C with my iron, but if that did not work, he would have to start iron shots. Not a good thing that! Thank goodness adding the vitamin C pushed my blood count one or two points into the normal range. Heaven forbid I should forget my iron and C, because I would once again plummet into anemia.
     
     When people scoff at me for being on a gluten free diet, and they often do, I tell them the story of my Megaloblastic Anemia, and how it took being on the diet for a whole year before my anemia was cured (rather dramatically and suddenly), and that since then my blood count tests have been perfectly smack in the middle of the normal range and I have not needed iron supplements since that day. That usually makes them pause and reconsider.
   • Immune & Autoimmune And/Or Correlated Disorders: "Coeliac disease is associated with a number of other medical conditions, many of which are autoimmune disorders." - https://en.wikipedia.org/wiki/Coeliac_disease Some of those diseases that we do have, or know about, and have been impacted by Celiac and a gluten free diet, are:
     • Hashimoto's Thyroiditis: Detailed info above. HT and Celiac are closely tied, as are many autoimmune diseases. Autoimmune diseases tend to run in packs, so if you have one, you are often at a very high risk of having or developing multiple others. As detailed above, my daughter's Hashimoto's disease seems to have either cleared up or become doormat since going on a gluten free diet.
     
     
     • Eczema: "Eczema is a term for a group of medical conditions that cause the skin to become inflamed or irritated. The most common type of eczema is known as atopic dermatitis, or atopic eczema. Atopic refers to a group of diseases with an often inherited tendency to develop other allergic conditions, such as asthma and hay fever." - http://www.webmd.com/skin-problems-and-treatments/guide/atopic-dermatitis-eczema
       
       I have had head to toe Eczema since I was 7 years old. My daughter, since she was 3 or 4 years of age. Since going on a gluten free diet our Eczema has virtually cleared up, with only occasional small flair ups, usually when we accidentally ingest gluten. See below for more about the immune-autoimmune nature of Eczema.
     
     
     • Asthma: "A triad of atopic eczema, allergic rhinitis and asthma is called atopy. The strongest risk factor for developing asthma is a history of atopic disease; with asthma occurring at a much greater rate in those who have either eczema or hay fever." - https://en.wikipedia.org/wiki/Asthma
       
       Like a lot of kids with Eczema, I developed asthma around age 13. All my life it has been anything from mild, to severe, to nearly killing me more than once. Since going on a gluten free diet, my asthma has greatly improved, and most of the time I do not need my inhaler, except during peak air borne allergy seasons: Spring and Fall. My daughter's asthma has also improved since going on the diet. See below for more about the immune-autoimmune nature of asthma
     
     
     • Hay Fever & Other Air Born Allergies: As with the asthma, I use to be so bad that I had to be on an all day, 24 hr allergy medication, just to be able to breath, and not drown in my own snot. After going on the gluten free diet I no longer need the medication, except for occasional season flairs. No more yearly multiple cases of bronchitis and pneumonia, thank goodness.

IMMUNE / AUTOIMMUNE SUSPECT DISEASES: 

Although eczema, asthma, and hay fever/air born allergies are not yet listed as autoimmune diseases, the evidence is beginning to pile up that show that they most likely are, but for now they are still listed as an immune over-reaction. Despite that fact, and the findings from new research, I have included them here. More over, "Allergy and autoimmunity result from dysregulation of the immune system. Until recently, it was generally accepted that the mechanisms that govern these disease processes are quite disparate; however, new discoveries suggest possible common pathogenetic effector pathways ... The presence of autoantibodies in some allergic diseases suggests an autoimmune basis for these conditions. Because of the central role T cells play in immune reactivity, the T cell receptor loci have long been considered important candidates for a common disease susceptibility within the immune system such as asthma, atopy, and autoimmunity. Immunomodulation is the key to successful treatment of asthma and autoimmune conditions." - http://www.ncbi.nlm.nih.gov/pubmed/14646381

1. Eczema: As mentioned above, Eczema "is a term for a group of medical conditions that cause the skin to become inflamed or irritated. The most common type of eczema is known as atopic dermatitis, or atopic eczema." In the medical community it use to be believed that eczema was merely a topical irritant because you had hypersensitive skin and you may also be over emotional as well. Yet, "up to 50 percent of children with atopic dermatitis will develop other allergic diseases, including asthma, a phenomenon termed the “allergic march,” the gradual acquisition of co-existing allergic diseases.[Source]"... In the past few years research has shown that eczema shares many of the features and other properties of autoimmune diseases:

   "A fundamental question regarding the allergic march is if a child has eczema, for example, which is associated with TSLP production in skin cells, why would some of those children subsequently be more susceptible to other allergic diseases at different sites of the body such as the gut or the lung?" asks Artis. "Although we have known that TSLP is associated with allergic diseases for many years, how this biological messenger might influence multiple allergic diseases has been a puzzle." - ["Thymic stromal lymphopoietin (TSLP) is a protein belonging to the cytokine family. It is known to play an important role in the maturation of T cell populations" ... "Cytokines, a varied group of signaling chemicals in the body, have been described as the software that runs the immune system, but when that software malfunctions, dysregulation of the immune system can result in debilitating autoimmune diseases"]
   
   The origins of the present study lie in previous reports that showed that different versions of the gene encoding TSLP, an inflammation-producing cytokine, are associated with increased susceptibility to multiple allergic disorders, and that exaggerated TSLP production is associated with asthma, eczema, and food allergies in children. Together, these studies indicate that TSLP could be a critical regulator of multiple cytokine-associated allergic inflammatory diseases. - http://www.uphs.upenn.edu/news/News_Releases/2011/08/allergic-march/

   For my daughter and I this meant an array of mild to severe skin eruptions, lesions, and blistering. These ranged from dry rashes to open, weeping, putrefying wounds. At some points of my childhood these skin eruptions and rashes covered over 50% of my body, more or less. I use to call it my own personal leprosy. The itch is almost undiscribable. It attacked the nerves, and felt like it was all the way into the bones. I would often scratch till my skin would shred and bleed. The only thing that would stop the itching was to dig my nails deep into my skin till the itch stopped, or running scalding hot water over the area till the skin was nearly seared and the pain was too great to continue. But it would stop the itching and allow me to apply cream or ointment before it all started over again.
   
   These were not itchy dry rashes or bumps. These lesions were raw open flesh that often had a bad odor and leaked amber colored fluid that would dry into a crystallized crust. I had red raw rashes on my eyelids (as well as my face and behind my ears), and as I slept, the same amber fluid would leak out along the edge of my eyelids, gluing them shut. By morning I could not open my eyes. I would have to pick and pull bits and pieces of the crystallized crust from my eyelids, often tearing out eyelashes at the same time, until I could finally open my eyes. Another time, in 5th grade, I had tiny blisters running along the sides of my fingers that itched all the way to the bone. At the same time my hands would dry out, the skin would crack open bleeding, and along the bottom of my fingers the skin would rip open in bloody lengthwise slashes on the flat area between each joint. I could not bend my fingers without causing them to bleed, so I devised a form of bracing using popsicle sticks. I would slather my fingers in Hydrocortisone cream, then lay my fingers along the sticks and held them in place by wrapping gauze around my fingers and the sticks. Very hard to write when all 10 of your fingers are taped flat to popsicle sticks. I must have looked very odd, yet no one, that I remember, every said a word. Not even the teachers. I did find decades later in my school records that the school had been hounding my mother to take me see a doctor when I was in 1st or 2nd grade. Back then we had no insurance, but eventual after my mother remarried and we had Kaiser, the school stopped bugging her to take me to a doctor. I was not aware of any of this, other than my mother accusing me of causing the disease because I was to "emotional". She always made a fuss about how unpleasant it was taking care of me and my Eczema, always saying or implying that I just did not try hard enough to get better. I learned at a very young age to doctor myself most of the time.
   
   Besides the itching, there was stinging and burning, as well as infections in the open wounds. My daughter had the same types of lesions, but it did not cover as much of her body. Suffice it to say, it was pure torture. It was by far one of the major nightmares and emotional scarring of my childhood. Yet, when we went on the gluten free diet, our eczema went into remission. We now have only very rare, and small flair ups, especially after inadvertent gluten digestion. We still have Eczema, but it is nothing like it was when we were children.



2. Asthma: Asthma as a paradigm for autoimmune disease: "by looking at the key elements that regulate the immune response in both asthma and autoimmune conditions: mast cells, antibodies, T cells, cytokines, and genetic determinants. The parallel appearance of asthma and autoimmune conditions in the same patients may reveal that such aberrations of the immune system have a common pathophysiologic mechanism. Mast cells, which play a key role in asthma, and the wealth of inflammatory mediators they express, make it likely that they have profound effects on many autoimmune processes. Activation of protein kinases by inflammatory cytokines and environmental stresses may contribute to both allergic and autoimmune diseases." - http://www.ncbi.nlm.nih.gov/pubmed/14646381
   
   So, along with the type and severity of the eczema that we had, along came the requisite asthma in our early teens. It started out mild, then seasonal, then finally, for me, brought on by running or other outdoor exercise. I was a dancer and as long as I paced myself and did not dance in the grass in the spring, I was OK. By my early 20s it was full blown and in the fall of my 22nd year, I nearly died from an acute attack while camping in the White Mountains of New Hampshire. My now ex-husband had to literally carry me to the emergency room. At that point I was merely taking small sips of air and near blacking out from the lack of oxygen. A shot in the arm of adrenaline gave me instant relief and my first large gasp of air. I then began to talk a mile a minute and giggle inappropriately. I was and felt very silly, but joyous at being able to breath and not dying!
   
   Since that episode while camping, the worst time of year for me (besides spring), has been and still is in the fall when the trees, and rag weed and other grasses, shed there pollen. Before going on a gluten free diet, I would end up in the emergency room for emergency breathing treatments every fall. Once I was gluten free, my asthma improved and I stopped going to the emergency room for about five years. But recently since the pollen count has been at all time highs these past few years, my asthma has come back with a vengeance. Now I am having great difficulty in breathing and constantly loosing my breath, with even the smallest and mildest of movements. I use both a rescue inhaler and a long-term steroid inhaler everyday. If I miss a day or two, breathing becomes very difficult. My daughter, on the other hand, has had long term mild asthma, that has now, in her 30s, developed into chronic bronchitis and some OPD (Obstructive Pulmonary Disease).



3. Hay Fever & Other Air Born Allergies:  "Allergies are an overreaction of the immune system to substances that generally do not affect other individuals. These substances, or allergens, can cause sneezing, coughing, and itching. Allergic reactions range from merely bothersome to life-threatening. Some allergies are seasonal, like hay fever. Allergies have also been associated with chronic conditions like sinusitis and asthma." - http://www.cdc.gov/healthcommunication/ToolsTemplates/EntertainmentEd/Tips/Allergies.html As noted above, Allergies bare many of the same aspects and characters of autoimmune diseases, and the medical community is beginning to do research into the idea that they are indeed autoimmune in nature and substance. I and my daughter do not find that odd or new in any way. We have long suspected that.
   
   The hay fever and other air born allergies also started at the same time as the asthma, that is, in our early teens. Hence puberty. As you read this blog you will see that very point repeating itself often, i.e. 'on set at puberty'. Like the asthma it started as a season thing, then became all year round, then, for me, it became so intense that my nose dripped and swelled all the time, and I would do explosive bouts of sneezing. Often 10 to 15 sneezes in a row, so quickly that I often lost my breath and became dizzy. The sneezes became so powerful on a daily basis that I often cause whip-lash, dislocated vertebra in my neck, and popped out many of my rib heads in both the front and back of my rib cage. I was miserable and used up truck loads of tissues every years. This constant chronic weeping from the nose also cause recurring lung infections, especially during the winter. It also often triggered or exacerbated my asthma. With a full blown episode I would end up on the bed with my nose running full speed, sneezing over and over again, a massive neck and headache, and gasping for breath. It felt like I was drowning in my own snot. In a way, I was.
   
   Finally in my 30s (late 1980s) I went to an allergist. They did a skin scratch test, with 100 single and combo scratches. I tested positive for over 90 to 95% of them, all air born: all trees, all grasses; all furred animals, all feathers, all pollen, all dust mites, and so on. Only mold had a low reaction percentile, much to my surprise. When I asked the doctor about getting allergy shots, he claimed that my allergies were too many and too wide spread for shots to be of any use. I believe that today things are different, and they can treat someone like myself. I believe so because my niece has just tested positive in exactly the same way that I have, with the same responses and allergies, and her allergist IS making a special series of shots for her.
   
   Things got so bad for me that when Seldane (Terfenadine - removed from the market in 1997, and replaced with Allegra), a 24 hour non-drowsy anti-histamine, came out, I started using it every day. This was great in many way. Not only because it was a 24 hr drug, but it did not effect me the way all other anti-histamines did. Other anti-histamines knocked me out with just a single dose, and sometimes caused a drug induced form of Apnea. Seldane was a life saver for me. When Allegra replaced Seldane, it worked, but nothing since has ever worked as well as Seldane did for me. I took Seldane/Allegra for nearly 15 years until I went on my gluten free diet. Since then I no longer have to live on those drugs and my allergies are much more manageable, and often, I go nearly symptom free without any medication. I still am very allergic to dust mites and seasonal pollen, but other than that, life is so much better.
   
   • Allergic Rhinitis:"Allergic rhinitis is an allergic reaction that happens when your immune system overreacts to substances that you inhale, such as pollen.
     
     The two types of allergic rhinitis are:
     
     
     • Seasonal allergic rhinitis (hay fever)
     • Perennial allergic rhinitis, which occurs year-round
     
     Hay fever is caused by outdoor allergens. Perennial allergic rhinitis is caused by indoor allergens, such as dust mites, pet dander, and mold ...Most patients with allergic rhinitis have symptoms before age 20 ... Many people who have allergic rhinitis also have asthma." - Source: Allergic rhinitis | University of Maryland Medical Center http://umm.edu/health/medical/altmed/condition/allergic-rhinitis
     
     I have posted this separate because of the significant history that we have with this, especially my daughter.
     
     My daughter and I have chronic sinus headaches caused by allergies. We have had them since puberty, and they have never completely gone away. Even with the improvement afforded by staying on a gluten free diet. Before the GF diet, sinus headaches would get so bad that we would wake up screaming in pain, literally. Only heavy duty decongestants would give us any form of relief. These screaming headaches happened at least once a month, and during peak seasons, weekly, often lasting for days on end. In the end, my daughter, who had a four year, non-stop, massive headache from age 9 to age 13, had to have surgery to carve out her sinuses, and give her some relief, and clear up the chronic infection she had.
     
     Often the sinuses would swell so bad that they would push down on the long roots of our teeth, loosen them, and displace them downwards so that we could not fully close our mouths. Today, since going on the GF diet, we are doing better, but our sinuses are still swollen and we always have a chronic, constant low grade sinus headache. Also, when we get a bad cold on top of the Rhinitis, our sinuses still swell up and displace and loosen our upper teeth. When this happens it feels like someone has shoved a large, thick spike right through your check bone. So much fun!

So, there you have it. Part one of the remaining two lists (after the EDS-HT list). The next post will be for the Endocrine System Metabolic Syndrome condition that runs through the female line of my Sicilian family. I was going to do these last two list all in one post. Thought it would be a simple matter of listing them, since most people are familiar with these conditions. But after doing some research to bring me up to-date, I learned so many new developments, and new research, that the first of the two remaining lists just kept getting longer and longer. Finally I just gave in and gave it the same attention and detail I did to the EDS-HT list. I am glad I did. It has been very educational and has confirmed and made steadfast my belief that all that my daughter and I are going through boils down to an autoimmune issue, and may include damage in general to chromosome 2, were many, if not most, of these condition's genetic markers can be found. If this is true, then there is hope that a transfusion of donated bone marrow may indeed be a viable solution for us. It is in the bone marrow, from what I understand, that the immune cells are taught "Self-Non-Self" coding. A failure in this coding is what is believed to be the main cause of autoimmune conditions. Why this happens, is another issue, most likely a genetic issue, which is corrected with the change in the bone marrow DNA from a marrow donation from a different, unaffected person. So there is still hope.

Update on the last two lists ......

So, just a quick update on how the final two lists are going. Though they are taking 10Xs as long as I had thought they would, the processes has been a wonderful learning experience. I have discovered new research on several of the diseases we have had for decades, and for which we thought were thoroughly understood. New research has once again validated our experiences, and suspicions, concerning the probable autoimmune links to eczema, asthma, and our allergies, as well as new info concerning hypothyroid disease, and Celiac.

So please bare with me once more as I gather all this information together in a coherent form, for this blog is not just about the lists, or how it all has and does affect us, but also about in depth information, and new research and resources. That takes time and a great deal of writing.

See you soon ......

Lilith

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