It sounds like EDS to me, but of course a doctor needs to confirm. That might partly be by exclusion - like using blood tests to rule out Marfan's if you're tall and long-limbed.

I think you're going to need long-term, careful physical therapy and activity restriction to recover. I think better health is very possible.

Hello LWiz!

I'm a sufferer of EDS and from what you have written I would put bets on you having the same!

Sadly I only got mine doagnosed last December at age 45! I have suffered all my life. It has a profound effect not only on the joints and muscles but on the whole system including digestive, respiratory, circulatory and autonomic!

I also have Postural orthostatic tachycardia syndrome (POTS) which tags along with it.

I am in the UK and had to go to a genetics clinic first then was referred to a specialist EDS diagnostics clinic in Sheffield. It was first thought I had the classical type but later I was told it is indeed the hypermobility type.

Good luck with your diagnosis! I'm certain you have it!!

Thank you for the responses. GenuineMystery I am actually on the short side of things. I am 5ft 3.25in now at the age of 24. I didn't break 5ft until my freshmen year in college. I have actually been in physical therapy for about 8 years now. Every time I finish I end up back because of another dislocation. I also have home program I have to follow as well.

Suitsme I have autonomic issues as well. The docs can't make up their mind. One of my EPs says that I have pots, but the neurogenic cardiologist wasn't 100% and said it was IST. The EP said he was crazy and it can't be IST since my heart rate at rest is 50 and when I sleep I tend to drop into the 30s. The EP is still convinced it's POTS based of my tilt tests and the fact I am always orthostatic in his office. I'm brachy. when resting, but when I stand up and move around my HR jumps to 180+. I'm always having some sort of GI issues. My circulation in all honesty is basically crap. Occasionally I'm an ashen color up to my elbows & knees. Yesterday in PT my therapist looked over at me when we where doing work and yelled over at me and said to immediately lay right where I was. I guess I went really pale and my lips and skin around my eyes where turning blue/purple. That happens every once in a while for me, but hasn't in a month or so. I also have skin that just wont heal. I still have bruising and a scab where an IV was started about 6 weeks ago. I had knee surgery on March 10th and there is still some scabbing at a few of the port sites.

Do you guys remember how long it took to get the genetic testing back? What happens after that comes back? What happens if the diagnosis is confirmed? Is there anything that can be done, or is it basically everything they are already doing now?

It's hard to believe how quickly I'm going downhill. A year ago I was competing in diving to qualify for the Olympic trials (I qualified twice in high school) and now I have days where I can barely move. The funny thing is I'm about to graduate from college with a degree to teach physical education, but I can't even stand for 20 minutes or I start to get faint/pass out; not to mention the pain in my back becomes unbearable.

Do you have any advice on what to ask the geneticist about, or what types of questions to ask? I will be going all alone since I have no support system.

If it's the hypermobility or classical type, the doctor probably will diagnose it at the visit. If Vascular is under consideration, I'm not sure how long it takes to get results. I personally would ask what other things - like the heart - should be carefully examined by other specialists.

There are many little things to be done to treat autonomic symptoms -> dinet.org

Thanks for getting back to me. I do already follow a cardiologist for both the autonomic stuff and for my regurgitation. The do frequent stress tests and echos once a year. For the autonomic stuff I have tried different medications, but I don't take well to them at all. They make my blood pressure drop so low that I can't stand and it won't even affect my heart rate. That will happen on a dose that is equivalent to what they would prescribe a 3 year old. We tried Florinef and one other medication that i similar. I didn't notice any difference on the Florinef. It just made me gain 30 lbs in water weight and I was always bloated and miserable on it because I felf huge. The other one started with an M and had to be taken 3 times a day. I started that one when I was in the hospital. They immediately pulled me off of it after 2 dose because it made my blood pressure drop too low when I was sleeping and made me super light headed.

The neurocardiologist that specializes in autonomic disorders told me that he didn't want to do the testing because it's expensive and there is no point in it. He said I should "grow out" of it over the next 5 years. He was very...very...he didn't seem to listen to my concerns. He just told me to not stand for more than 20 minutes and to arrange my schedule so I have frequent breaks to put my feet up and rest. I tried to explain to him that I teach PE and that's not even a remote possibility as a teacher. In order to safely monitor the students and to maximize learning I have to move around and engage with them. the neuro.cardiologist just didn't seem to be able to grasp the fact that I can't set my own schedule. He kept telling me to arrange my classes so I have breaks. I tried to explain that we exchange kids in the hall and go. Teachers don't get to choose their schedule. I'm going back to my EP that originally sent me to him. He was a lot more understanding and willing to help. He seemed more interested in my case and took it as a problem to solve. Some docs I feel like don't try or give-up because they are stumped. They see how miserable I am, but it shuts them off. Others get really curious and determined to figure it out. I even had one of my doctors show up at a diving practice once to observe me and how quickly I would tire, how pale I would get, and the bluish color I would turn. She also got the chance to check my pulse in the middle to feel how ridiculously fast it was going. I think she got it at 220 and she could literally see it pounding in my chest as I was turning blue. Her only response was "how are you conscious right now"

I really hate when some push you away and say it's in your head because the normal probable causes of symptoms where negative. Then others actually think outside the box. My favorite doc was the one who got me actually on the road to a diagnosis. He game into the room after literally reviewing all of my records from birth (23 years worth at that time). He came in the room and the first thing he said was: "Wow that was a long novel. Good News...I swear you aren't crazy. There is no way in hell this is in your head and related to stress." He said he was going to do some really random tests and they would all most likely be negative because the conditions are so rare, but he wanted to literally check everything off the list that my symptoms could point towards. Well one of the test came back abnormal. I was sent to immunology for the immude deficiency. She had the same "lets solve this puzzle attitude." My ANA's where sky high even after a recheck so she had me see a rheumatologist she works with thinking there was an autoimmune issue causing everything. He did the physical exam and a lot of labs because of family history. After he literally looked at every joint, range of motion joint, finger nails, capillaries in my nail beds, skin, my posture when sitting and standing, hair, x-rays, muscle strength, etc. and he also looked over my full history from birth. After looking at me during that first visit (even before having labs drawn/back) he said "I know exactly what this is. Yes you have high ANAs but it's not rheumatology based. You need to have genetic testing to determine exactly what type it is. I still want to do all of the labs to check because of your family history, but I know they will all come back negative minus the high ANA. If you have this you will be the first case our hospital has seen. " (I asked him not to tell me what it was until they did the testing and knew for sure. The er slipped up when I was in there) The hospital I go to is one of the top in the midwest & has one of the top med schools in the country. He also said he technically didn't have to do the genetic testing but he didn't feel 100% confident that he could rule out one of the types & it would affect treatment (I'm assuming he was referring to vascular type at that point in time).

I wasn't really referring to medication, though. I meant things like diet, supplements, and sleep that can affect the autonomic nervous system. I don't think dysautonomia is something people grow out of (I've had it fluctuate over many years of adulthood). On the other hand, if he's very wrong about that (where it doesn't improve at all), then he's likely right that you'll need to change your behavior on the job. Unfortunately, that might require a different job.

By the way, I think compression stockings might help with standing.

I did all of the tilt training and sleeping with my bed slanted. I have waist high compression stocking that were custom made. Non of it has really helped much. I have been doing it for the last 3 years now. I consume a very high sodium diet. I have anywhere from 3-5 Powerade Zeros (they have more sodium than regular Powerade or Gatorade). Diet foods almost always have a higher amount of sodium. The EP and neuro cardiologists keep telling me to run and do an hour of vigorous exercise for vascular training every day; I try to explain to them that I literally can't run even if I actually try. I waddle for a couple of steps then collapse. And that's with my AFO on.

I saw the back seurgon today because of my degineration happening so quickly. He basically came in and said you don't need surgery and left. He wasn't all to concerned about the fact I'm loosing function of my right leg completely and that the left is starting to go as well. I have a cysts that is completely compressing a nerve and another that is growing rapidly. I haven't responded to any of the injections of PT. He just told me to go to pain management.

I was in and out of an LSO back brace for 9 months when I broke my back 6 years ago. I remember that when I was in the brace my pain was a lot less. Has anyone worn one just to help manage the pain?

I do completely refuse to take any sort of narcotic pain medication. I hate the way they make me feel. I don't even take them after surgery. I'm allergic to Tylenol and at the rate I'm popping Alieve I'm going to get another stomach ulcer

There's a specific dysautonomia exercise protocol that I saw once I can try to track it down if you like.

I have worn a back brace before; it was partly post-surgical. I don't remember any benefit from it.

My experience with surgeons is that many make patients jump through hoops before surgery. And some won't operate no matter what. Since growing cysts on the spine sounds like a coming emergency with the possibility of permanent nerve damage, I'd directly ask the doctor whether he's open to surgery at some point and meanwhile consult a neurosurgeon for a second opinion.

He was a back neurosurgeon. My EMGs already show permanent nerve damage from my old back injury. He really wasn't concerned about permanent nerve damage from the thoracic cyst. He said it would only affect my lower left abdomen (kind of the area where us lovely ladies get cramps every month).

He acknowledged all of the weakness and just said there is nothing he can or will do. I'm trying to get into my pain management doc, and am going to have him give me a referral to a different surgeon. I haven't seen him in a while because I sought out a second opinion. After my first appointment with the other guy he did all the EMG testing and put me in an AFO and has now mysteriously vanished and isn't seeing patients. I'm just going to have to call my original pain doc everyday hoping for a cancellation.

I just hope he doesn't want to do shots again. The last round I had was the wort experience of my life. I didn't take to the numbing medication, and then the fellow/resident couldn't get the needles into the right places because of pars defect and my small stature. I felt all of the digging. 2 med students had to hold me down because after 10 minutes of it I couldn't not flinch.

My PT's were all looking over my most recent MRI and all of my old ones and the x-rays. I have a slight scoliosis, but they think it might be enough that my lifestyle in combination with it may be another big cause of the pain. It also appears to be getting worse. they want to focus strengthening on stabilizing it so it doesn't get worse. But on the down side I am just about out of PT visits for the year. She did the math and with my medicare I will only be able to go 2 times per week for another 3 weeks. They don't take Medicaid and my student insurance is up at the end of May.

Any tips?
Has anyone gone to Mayo? I was doing some research and came across a forum of some people here in my area who where tested by the same guy (geneticist) I'm going to and I guess he completely missed it. The doc who referred me to the testing for confirmation/to check if I possible have vascular hasn't been here for long.

I knew someone who had a worthwhile EDS-related experience at a Mayo clinic, but it was the one in Florida.

I wasn't aware government plans are still putting limits on the number of physical therapy visits, but apparently it's like any other plan - they're soft limits that probably can be pushed through if more visits are "medically necessary." I've gotten that for myself in the past.

With scoliosis, it's possible it's the easily-painful rotational kind that is easy to miss on normal x-rays.

I ended up filling out the Pre-appointment Questionnaire to hopefully be granted an appointment to see one of the specialists at the EDNF Center for Research and Clinical care. Dr. Clair Francomano will review the questionnaire (which was 40 pages) and then tell me what medical records they need to review, then hopefully I will be granted an appointment. Unfortunately their waiting list is averaging 15 months according to the questionnaire FAQs. I also put in an appointment at Mayo. I figure it can't hurt. My guess is they will tell me to keep my genetic appointment here in town then review everything themselves. The nice thing about Mayo is that they do have charity/foundation help for those with financial need. Being 24 and fully self supported I don't know what I'm going to do financially, but I do know I won't give up. Maybe someone will take me on as a case study.

Hi,
I am new to not only his forum but also to feeling the way that I've been for the past 6 months. I was in average health last year, until around the end of October, early November I started to have frequent fainting spells and sudden bouts of extreme fatigue to where I was even falling asleep while driving. I am a property mgr and have to drive to different locations to conduct showings, however, I was also finding it hard to walk short distances or up a couple of steps without getting winded and feeling like my heart was going to jump out of my chest. With the fatigue causing a driving hazard and my fainting spells, I was first limited to office duty only. Then things progressively got worse and soon I could barely walk around without knee pain and found it hard to concentrate and focus. It got to the point where I had to take temporary disability from work to try and find out what was wrong.

Every day has gotten worse to the point where some days I can't even move. I always had knee problems where it feels and sounds like something is ripping and it's worse up and down stairs. I can no longer go up or down without help from my husband and I am only 34 years old. I used to run at least twice a week, but because of my knees couldn't any longer and ended up getting an ellipse machine. I now can't even use that because I feel like blacking out if I over exert myself. Even a simple task like washing my hair can cause a black out depending on the day.

I was told that I have hypermobile joints and was going to PT for a little while, but soon couldn't do that because of my fatigue. I'm good one day, then down the next four days. I personally have had a heart murmur, have been told as a child that I had very little muscle development, and up until my adult years could see all of my veins straight through my skin, especially on my legs. I also bruise very easily. I've always had issues with fainting and blacking out and so have my mother and daughter, but no one has ever given me an explanation. I've always been "double-jointed" and when I was younger kids used to think that my flexibility was really cool. Unfortunately that seems to be coming to bite me now.

My mom has a history of dislocations which she says started around my age now and she has had all of the symptoms I do for years. She was misdiagnosed w/ MS & cancer when she was my age and only within the past 5-10 years diagnosed w/ lupus. However, I don't think that anyone ever considered that she had EDS or tested her for it either. My grandmother also had rheumatoid arthritis along w/ a bunch of other ailments.

Basically, according, to the doctors all of my tests are normal, but no one can explain why I've been experiencing these symptoms all of sudden. This limbo that I'm in has also brought on depression which I am now taking medication for as well, but I'm also dealing w/ insomnia too. All of this is taking such a huge toll on me and my family and I don't know what to do.

Can anyone share how they were diagnosed?

Thank you

Hello Workwife'

The questioning for EDS being the cause of everything for me came about after my appointment with a rheumatologist who made the determination that genetic testing was needed after my physical exam. I saw the geneticist and genetic counselor I was referred to and they agreed that there is definitely some sort of hereditary connective tissue. The agree that it could be EDS related and are very concerned that I may have a mixed type including vascular components. I however still do not have an official diagnosis. We are still battling with insurance because they are refusing to cover the cost for genetic testing. The testing cost $6,300 which is about 75% of my income each year and I do not have any sort of other income or support system/family support.