Please help me figure out what's going on...Thanks!
I have been dealing with various health issues over the span of my life and have often been referred to as a hypochondriac. After doing some research, I think I could have a connective tissue disorder, possibly EDS.
I have a long family history of hypermobility and joint problems. My mother had to have both of her hips replaced in her early 50's and now they want her to get her knee replaced. She also suffers from serious bruising, migraines, arthritis and degenerative myopia, which will eventually blind her. She was told she has a connective tissue disorder, but aren't going to test her because she is done having children. I come from a long line of tall, thin people who have chronic joint and pain problems.
I have been told I have a variety of diagnoses: Patella femeral syndrome, bursitis, fibromyalgia (doesn't quite fit b/c pain is mostly in joints and I don't have the tender points), migraines, TMJ, depression, unexplained neck and back pain...etc. I often feel like they think I'm malingering or seeking drugs, since I have so many seemingly unrelated problems/complaints.
My symptoms: I was born with a punctured lung and curved feet that had to be massaged straight. When I was 18, I developed TMJ and the cartilage came off my jaw joint on one side. I used to exercise, but soon developed problems with my knee in my twenties (chronic pain, clicking, and popping of ligaments or tendons). Now I am beginning to have pain in my other knee and ankles. I can no longer run or even walk very far without pain. I also developed chronic pain in my hips. Not sure if it qualifies as subluxation, but my hips seem to slide out of place spontaneously and I have to do a certain movement to pop it back in (makes a loud noise). I get a lot of headaches and migraines. I bruise easily, often not knowing what happened. I got into a minor car accident five years ago, and have had terrible neck and back problems since. My neck or back can "go out" by the slightest movement or deep breath....The pain is debilitating! I have ALWAYS had gastrointestinal issues. I deal with intense constipation (doesn't respond much to diet- I eat a lot of high fiber foods, drink water, etc) I recently had surgery on an anal fistula. Doctors don't have a solid explanation for my issues.
I can no longer wear a purse, cross my legs, exercise, wear low heels, or sit for long periods w/o pain....And I'm only 33 yrs old. I am rapidly losing the ability to do things I used to do with ease. I am in most of the time now. I feel like my body is falling apart and I don't know why.
After looking at EDS, I began to see there may be an answer for all of my issues after all!
My mom (plus many in her family) and I have high palates, long limbs (not disproportionate to height, though), and very soft skin.
In regard to hypermobility I have always been very flexible. I can touch my thumbs to my wrist, push my fingers far backwards(among many other tricks), put hands flat on the floor w/out bending knees, put legs behind my head, and probably more (waiting for physical evaluation).
I plan to pursue medical help, but I'm first doing my own research so I don't get dismissed as being a "healthy person" that doesn't really have anything wrong with her. It is so frustrating to suffer from pain the way I do, and not be taken seriously. I am determined to figure this out. This isn't normal, right??Any thoughts would be greatly appreciated! Thank so much for reading my post!
Look up EDS and diet on the internet. I think I remember there being zinc, magnesium and possibly vitamin K deficiencies in people with this diagnosis. Maybe your family has an increased need for these nutrients due to genetic glitches. And sometimes a problem with one nutrient leads to another nutrient deficiency. I hope this helps!
First off, I wanted to say I am sorry I had not gotten to your post sooner.
Secondly, I thought I was reading a carbon copy of myself - so much that I need to message or have you message me directly. You would not believe that I have EVERY single thing that you list.
On an other note, I recently was tested genetically and diagnosed with MTHFR C677T variant. This is a genetic mutation variant that can affect many things, but often is not diagnosed until your childbearing years. (Since this mutation seems to be correlated to miscarriage and other reproductive issues). But, after much research I see that the mutation affects countless other areas of the body. Just as an off though to your research, you can look into this also.
I had not done a lot of research on EDS, but I have certainly come across EDS on many occasions in this forum and others. I will pass on some other genetics references for you that I have been given with respect to EDS if you can message me. The most important thing that you must do at this point, (since I too have been through the long list of doctors and diagnoses for each category of health issues) is have some genetics testing done. Since EDS is genetic, the testing is available. Here is a fantastic site that I have for EDS and much of my other genetics information: http://ghr.nlm.nih.gov/condition/ehlers-danlos-syndrome
I definitely believe that what you discuss as your health issues are genetically related, as I believe my own are. But the one thing that I have to pass on to you as information is, genetics is very tricky. When testing for genetics, you do need to know what you are testing for, which makes it almost crazy since you are trying to figure out what is wrong in the first place. Obviously this makes this situation very difficult. In genetics testing, it should be better referred to as genetics confirming. There is no genetics test that can be done that tells you (if you have no idea what is genetically wrong with you) what you have. Since there are literally about hundreds of thousands of genetic abnormalities and then genetic mutations or variants, it is nearly impossible to test you for everything. There fore, with the help of a genetics counsellor, (or more so a doctor specializing in the area of concerns that you have - which I do realize tends to be over different areas of the body) an idea of what genetically could be wrong can be suggested to be tested for. The problem is, (as it is here in Canada) genetics testing is very expensive, and often if you are not dying or some ridiculous other reason like that, they don't really want to do the testing. And then if you have insurance plans that cover testing, it is often a ridiculous fight to get the testing approved. The one thing I can say is I sympathize with you on two levels. First - going through exactly what you are in terms of the actual health side of things, and secondly - the medical diagnosis side is crazy.
I would love to chat with you more, because I do believe that you are onto the right path, and possibly some of the information that I have could help additionally. I definitely would need to know some other details though, so that I can help point you in the right direction. Feel free to message me directly at any time, and I will get back to you as soon as I can.
In addition to anything I have mentioned, please keep in mind, that while I or others may have extensive knowledge in many areas, you should always seek professional medical advice from your own physician, as it pertains to medical conditions or concerns.
Good luck, and if you have any other questions that I can help you with, please feel free to message me directly.
Sincerely, Sandi (Dragon1973) MedHelp Genetics Community Leader; Children - Special Needs Community Leader; Down syndrome Community Leader & Ds Group Forum Founder/Moderator
You are not far from Stanford. You might want to call their Marfan Clinic at 650-725-8246. They also diagnose EDS. I am taking my son to their genetics clinic in November. He is suspected to have EDS.
My son has many symptoms like yours, and also extreme myopia, stretch marks and severe orthostatic intolerance. He also has gastrointestinal issues. He was severely constipated for many years, but I believe that was due to hypothyroidism. He is now on Thyroxine and no longer constipated. He does not have much pain, but that may be due to taking cortisone for the last 3 years (for secondary adrenal insufficiency) I believe he definitely has connective tissue breakdown, but since he also has significant growth hormone deficiency, which has led to low protein synthesis, I think this may be the overriding cause of his symptoms. He is 14 years old.
He does have significant nutritional deficiencies, among them zinc, magnesium, B vitamins, antioxidants, many amino acids and glutathione. He had 14 abnormalities show up on an organic acids test, done through a clinical nutritionist. None appear to be serious enough to have a genetic cause IMO.
Your hips popping out of place, along with your other symptoms, is highly suspect for EDS. You may need a doctor's referral to see a specialist. If your doctor will not do this, a Stanford doc may be more helpful.
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