Question: I have been diagnosed with probable Ehlers Danlos II by a geneticist. The Col 2, 3 and 5 were not positive, but my beighten scale was 5 and my daughters was 6. My son as well as my grandson display the symptoms of hypermobility. I have always been clumsy and began breaking bones with falling at age 30 or so. Prior to that I would just have bad sprains. I have chronic reducable shoulder subluxations, have developed scoliosis; which is more on an axial plane, blue sclera, fatty tumors beneath skin, varicose veins, hyper-mobility of most joints and developing significant arthritis from fractures and falls. I have cervical stenosis, cervical dystonia with torticollis and DDD. Had a ruptured L5 requiring a fusion of L4, 5 and S1. I have had precancerous lesions of colon and breast, 30 years of endometriosis, failed nasal septal repair, recurrent incisional hernia and recently a concussion with development of left eye nystagmus like movements. I have a gait abnormality and severe joint pain with long immobility upon awakening due to stiffness. I have been told by my neurologist and a movement disorder specialist (after the neurologist consulted with the movement disorder specialist) that I have abnormal movements that aren't related to Parkinson's or other movement disorders. They are not familiar with Ehlers Danlos and refuse to research it because it is rare. My mother is hyper-mobile, by father is stiff and can't bend his neck and suffers from shoulder bursitis. My father's mother and sister displayed many of my symptoms and my grandmother died from hemorrhage from multiple orifices in her 60s. My father and sister and I have varicose veins, my mother's are milder and ours occurred early in life. I am being told that it is in my head and I know better. Since this disease seems to run in families as it does mine, the geneticist told me that I wouldn't have to bring additional family members in for him to evaluate. The other doctors and some family members think that I want to be sick, but this is the last thing that a physically active and socially active person who has worked long hours all their life wants. I hate that my home as become a prison and that I have to live with so many people judging me and the stares I get when going out in public. I am hypotensive, especially upon standing, in chronic pain and don't like being judged by people who are ignorant about the disease. Doesn't this sound like a form of Ehlers Danlos? A blood patch helped some of the nystagmus and I felt it as though it shot upwards to my skull then I was able to relax for 18 hours before symptoms began recurring. Doctors look at me like I am crazy. My TSH, T3, and T4 are barely normal by a 10th of a point or two and the fatigue is excessive. I am chronically anemic and had 2 difficult pregnancies due to transverse lie (bicornid uterus with septum) and placeta previa with both. I have a permanent dislocated jaw on the left and failed my tilt table, but still I fight. I would die as a guinea pig to help my children and grandson not live the life I have had to but most think that I am psychotic because of a molestation as a child. I am not thought of as crazy by the psychologist or psychiatrist but I am constantly stressed due to pain and isolation. I have an abnormal P450 enzyme panel and many meds disagree with me or are not effective or too strong.

I was in an automobile accident in my mid twenties. My husband and I were struck by a Toyota truck going approximately 65 miles/hour. The driver was very drunk as well as his passengers. They had been in a parade and drinking all day prior to getting behind the wheel. We were in a Toyota Celica Sedan. My husband gave me time to prepare for the hit and I was turned completely to the rear of the vehicle (at least from the waist up due to my hypermobile spine). My husband was on the break pedal and maneuvering the car on a four XXXXXXX overpass. We were pushed from the base of the overpass in the far right XXXXXXX to the top of the overpass, with the car pressed against the guard rail. The trunk was smashed and the rear seats came off their tracks and broke and pushed into the front seats. We had to kick the doors continuously until we could exit the vehicle as we were in danger of the car exploding. I did remove my daughter immediately prior to the incident from the car seat as she was continuously screaming at the top of her lungs and since we were all stalled in traffic and all four lanes were blocked, I figured I would place her on the console between us to calm her down temporarily. I believe God was with us that day as she would have been crushed between the seats as both seats were pushed together at a high speed with great pressure. She had a quilted coat on, and I held on to her and placed by body over hers to protect her and stayed in the seat belt. I could only do this because of my spinal hypermobility. I was protecting her from going through the window with my body. My husband realized that the car wasn't going to stop at its high rate of speed and there was no where for him to go. Somehow, he managed to miss every car as we were pushed up the overpass into the stalled vehicles. All I could see was a blur of lights. He is an excellent driver and with a higher power helping him, we were able to make it to the top left of the overpass without an incident with another car. I went to vocational school and had just gotten my first paycheck as an LPN in training and we needed some things badly as he was out of work. My daughter, who was 2 at the time had nightmares for 2 years. We stood outside the car in shock holding the baby tight as we were on one of the busiest areas of the city on the interstate. The police had to take us to the hospital for evaluation and I had fasciitis of the lumbar back and received steroid injections into my fascia in an attempt to relieve the inflammation. I had to continue working without notifying the hospital because I was a new nurse in training and had just been through an extensive workup to prove my health and was even diagnosed with mitral valve prolapse by a cardiologist by EKG and examination prior to employment. I learned that I had spina bifida occulta as well. It was the 80's and the recession was bad. I had just completed putting my husband through college and had begun myself while working full time and had a 3.0 my first and only semester due to pregnancy and being forced to bedrest for 3-4 months and bleeding to the point of nearly losing my baby 5 times. Since I carried both children in my pelvis, sideways due to the uterus malformation, she hardly moved through out my pregnancy. My beta HCG levels were low and they didn't know about progesterone therapy in 1980; later this would prove to allow me to carry my son full term with a uterus that should not have been able to sustain life according to the OB who my sister referred be to with my first pregnancy. He happened to be a high risk OB and kept telling me that I had the most unusual carriage of a baby that he had ever seen. He wouldn't do any vaginal exams until my water broke, nearly a month early and told me that he either felt a hip or shoulder and to get to the hospital immediately as it was indeed amniotic fluid. Since I had a bikini incision; I was unaware that I had a horizontal incision up to the highest point into the muscle of my uterus. The postpartum cramps were horrific, especially since I was nursing. I would prop by foot against a hard object, bite down and put her on the breast to prepare for the pain. I stayed in the hospital for a week and she stayed for 10 days. I think that gallstones can start forming early in some people. I threw up the entire time I was having the C-section and passed out after birth. The first epidural given only went down one side of my spine the second one made it impossible to move anything from my waist down. I wouldn't go to sleep until I could start feeling my legs as I was worried about the feeling returning. The funny anecdote about them showing me my baby was that they hold them feet first to you, I didn't have my glasses on and am highly myopic, so when prior to passing out from exhaustion, low blood pressure and the Phenergan for nausea; I only saw the bottoms of her feet that had been stamped with ink and asked "Why is she so dark"? I had dreams that my baby was black and my husband is Sicilian/German/French and I am very fair Dutch/English/Irish and almost transparent like Casper the ghost. How was I going to explain this to my husband? Since I am affected mostly on the left side and that is the direction I was turned in during the accident; I can't help but to think that it had something to do with left sided symptoms being the primary source of pain and disability. My left side is weaker, except for the hypertrophy of the neck and shoulder muscles in my left side of my neck. When I had a cardiac workup for the first time recently, they found only minor mitral valve regurgitation, but are playing down the results of the tilt table (they actually lost my pulse) and when I got so ill; it caused a dystonic reaction.) I have been told you can't have dystonia and Ehlers Danlos at the same time a movement disorder specialist; but can't subluxations appear to be a type of pseudo-dystonia? They found clear carotid arteries, but when they got close to the top of my neck and base of my skull; they found the vessels were tangled greatly, one side retrograde the other antegrade. The assistant told the ultrasound technician that they had seen this in school when some of her colleges and they were asymptomatic, so I don't know whether it was even brought to the attention of the cardiologist. (how old were these colleges as I compensated pretty well for many, many years) My hips are stiff and sore causing gait abnormality and my left leg is weaker with a greater loss of sensation following surgery. I walk on my heels as I am unable to make a longer stride and do follow through with the front of my feet. An EMG was performed a year or so following the surgery and the paraspinals were active at rest, bilaterally. I asked the surgeon if this was really due to denervation from the fusion and laminectomy as they had explained and he told me "no". They were unable to get a reading on my neck as there was too much artifact and I couldn't tell when the needle had been removed. The neurologist had to ask me to move my left extremity to get a reading on the left leg at rest on several areas. I completed all four extremities in 45 minutes; breaking his personal record. I told him that the pain I experienced with the test was nothing compared to what I normally experience and that I actually got pain relief for 4 hours following the procedure, better than I had in years.
I feel acupuncture could help me since this was probably a response from my own endorphins? I have a high pain tolerance, even though most don't believe me, but he did after the test.
Since the neurologist can't figure out what all is wrong, he seems angry and belittles me now. I must move on to someone I can trust not to be bias that all is wrong because of my history of molestation.
I have been going to a different pshyciatrist and psychologist (the first pshyciatrist retired and the first psychologist relocated father away), a second psychologist wouldn't treat me as she was afraid of a dystonic storm and insisted I seek ER attention. The ER tells me that they don't treat dystonia, really!) I am now being by a third psychologist who actually has treated a patient who had Ehlers Danlos once, which I find awesome because I haven't seen a doctor familiar with the disease. Depending on how well I am doing, I see her every 2 - 4 weeks. I have a new Psychiatrist since retirement of the old one that I have been seeing every 3 months for 2 years. I was told when I was doing over 100 physical therapy sessions pre and post surgery for 2 1/2 hours 3 times a week (many personally paid for) that he had seen a patient with this disorder and that I should look into it. He would have to tape my loose shoulders prior to each session and they were trying to develop a muscle a my shoulder junction to help support the unstable joints. This helped a lot. Until this dystonia-like condition occurred, I couldn't develop a muscle; even with muscle stem and training. Now hypertrophy?
Hydrotherapy is another treatment that I would love to do, but driving far away is out of the question and I don't have anyone to take me. We don't have a local transit system where I live. Sometimes I can get somewhere, then I have gotten stuck, unable to drive with spasms that are of great embarrassment trying to be independent. I carry long and short term disability insurance (by luck from my previous employment as a research nurse), insurance with my husband's second job as School Board President and am forced to be lonely and isolated due to the nature of the disease and it's limitations; however, I do help my close friends and family members; especially when they are dealing with a dying parents as this is important for me to have a dying person leave this world with respect and have as little pain as necessary. (Not just with drugs, but by personal care and caring attitude towards them). I guess God gave me this calling because it is the only way that I get any positive feed back for my self esteem and I can better understand the patient's point of view now. I don't get paid, but knowing I may have made a difference for the patient and their family member is payment enough for me. It helps me to leave the house because they pick me up or my husband drives me there and it gives him a break from me. He is diagnosed with Prostate Cancer and is trying to wait and use dietary changes to improve his health and his PSA levels have gone down, but I warn him that it may not be a cure; but I help him choose our foods as I use foods for reduction of inflammation and placed myself on a gluten free diet as well. My last colonoscopy was good without anything having to be removed, so that is a relief.
I can't help but to think that research, especially genetic will make a difference in many diseases. If not in my lifetime, hopefully within my children's. The proof is there in the extreme hypermobility with my sisters, mother and both children as well as my grandson, even though he is young; he still does things with his joints that no other children at almost 6 years old can do. I have seen him fall 3 times in 10 minutes during play, usually hitting his head. We play it down as much as we can, but some injuries had to be attended to. He has already had a dislocated elbow just playing with his mother who is only 5'4 weighing about 110 lbs.
I know I shouldn't take on the burden that I passed an unknown gene on to them, but my husband doesn't have it. His father died from a drunk driver one year after our accident, but he had Myasthenia Gravis. My mother in law died from 2 attempted suicides from depression and multiple strokes and eventually lung cancer. I cared for this woman for over 20 years or more following surgeries because I was the "family nurse" in my husband's family.
Because they misunderstand my illness and symptoms, most people berate me. I have been called a drug addict, attention seeker and after all that I have done, my husbands family are cruel and opinionated.
I cared for my grandson and took in my daughter when she was 2 months pregnant and her "boyfriend" had gone through her savings and put her $5,000 in debt. She hemorrhaged severely trying to deliver a nine pound baby after an all day inducement that only ended up in a 4 cm. progression and distress to both her and the baby. She looked like she was wearing a black pair of workout shorts, front and back and I was left to monitor her at her head as the anesthesiologist kept going back to the ER for more coagulation drug. (I don't remember the name, sorry?). They used epinephrine 5 times during my second delivery and the blood was spewing into my face during the C-section. It took an additional minute or two to release the rest of the baby from her stomach once they removed his head. The first OB was aware she would have a baby approx. 10 lbs. when full term. I saw the baby move independently in her stomach when she was sleeping on her side, but they couldn't or wouldn't believe that he was that large. I said nothing, just supported my daughter the best I could.
She bled through the C-section scar for 6 months while it healed, but she tried to go to work too early and I insisted she use an abdominal binder if she was going to be standing any time. The doctors had never seen such a large hematoma and we were just fortunate that she and the baby survived. He weights 52 lbs and is nearly 4 foot tall in Kindergarten.
We all have crummy adenoids and ears. My daughter had 20 infections between ages 1-2 years and the doctor wouldn't put tubes in. My son and grandson had tubes at a year old with great results and my grandson had already developed collateral circulation in his right ear by age 1.
I believe that I may have dural tears without proper evaluation after having good results from the blood patch. I saw a study in 1990 where they do blood patches after evaluating the different areas in the spine where the CSF is leaking and the person went on to have a greater quality of life with minimal symptoms. Doesn't this sound reasonable. I want an upright MRI, but can't get my neuro to do one because he feels that they don't give good pictures. I think the effect of gravity doesn't show up when one is placed supine. I think that my ideas are rational and non-dangerous; compared to what they have already done to me. How is it that steroid spinal injections are less dangerous than a diagnostic spinal tap. By the way, the test for iron levels wasn't performed due to lab error and a previous skin biopsy on a fatty lesion pushing on my left bicep that was painful was supposed to be tested (the skin punch) for Ehlers, but they didn't prepare the biopsy correctly or it was another error from a test for Ehlers.
I don't think ignorance of a connective tissue disease is a reason to completely discount any symptoms and rule this as a psycho-somatic disease. I am told by mental health counselors that I have made great progress forgiving myself and those for issues in my childhood over many years. I went to the third movement disorder specialist because I didn't want bias placed on the doctor prior to his diagnosis and workup, but my neurologist insisted I give him the names and numbers and intervened. I found out that my second opinion had been tainted by the 2 doctor friends and that the doctor I traveled to in Alabama was actually a younger doctor who was working with my movement disorder specialist and I didn't know it. Even my insurance thought it inappropriate that he send her a note stating that he "strongly suggested looking for a psychological component for my symptoms". I was upset, but still hopeful. There were some things abnormal that she couldn't account for nor was I aware of what she was testing. Autonomic dysfunction isn't something a person can fake, especially if they don't understand how it works. The information is so confusing. By the way, my core temperature is 3 degrees below 98.6 after a home nurse ask me to check it a few mornings in a row. I knew it was lower than normal all my life, but I didn't know it was that low.