I have a very mild form, compared to others and wasn't diagnosed until I was 24 years old (I'm 25 now). I've always had contractures in my elbows, knees, fingers, wrists, ankles and hips since I can remember. Most of the doctors throughout my life dismissed the contractures stating that if they didn't know why I had them and that if they didn't bother me then I shouldn't worry. But they were bothering me....not my joints but putting extra strain on my muscles. Other than that, you can't tell anything is wrong with me just looking at me (besides that I walk stiff and the contractures, although they aren't that noticeable). My main symptoms are muscle burning and stiffness and it's mainly in my hips and upper legs (thighs). Also, I can't do certain things like cartwheels because of my contractures and lack of muscle in my shoulders. I started complaining a lot of problems when I was 14 years old though, just no one knew what was wrong. I don't use a wheelchair or a walking aid (yet at least). There are days when I just ache so much that it's hard for me to walk. I take a pill called Celebrex (pain reliever) when it gets too bad for me to handle but other than that I don't take anything.
Right now I started doing Beachbody's Insanity which is an extremely INTENSE workout. I didn't think I'd be able to do it because I don't react well to exercise but I'm going at my own pace and keeping up pretty well. The only thing I can say is that my knees are in HORRIBLE shape after starting the exercises. I should probably stop doing them but I like to feel healthy and in shape. I think my knees hurt because of all the contractures I have (hips, knees ankles etc.) and my body doesn't align properly when I do them even though I try my hardest lol.
What kind of test did you do exactly to get the diagnosis (blood test, muscle biopsy, clinical)? After seeing many doctors over the years I finally ran into a neurologist who specialized in muscles and tendons and after looking me over and asking me some questions did some research and ruled out other and finally pinpointed Bethlem Myopathy. He told me that if I wanted to know for sure if I had it that I would need a blood test or a muscle biopsy but that sometimes even those come back negative when they should be positive. So I am "clinically" diagnosed as having Bethlem Myopathy. He said having contractures the way I do is something somewhat "odd" for someone my age and that there aren't too many things out there with my specific symptoms. Anyways, I wanted to add that I've been gluten free going on 2 years and wanted to report that somehow it helps my tiredness that I feel, that's why I'm still sticking to it. There were days when I'd wake up so tired I'd cry because no one was helping me. I tried all different kinds of pills for "depression" etc. to help my tiredness but nothing helped until I went gluten free although I wasn't diagnosed with a gluten allergy. Something you may want to think about at least. I don't know if you have problems with tiredness or not??
I do have the plucked chicken skin on my arms and legs although it's not that noticeable unless I get a tan lol. Those Keloid scars/bumps don't sound fun AT ALL. I haven't noticed those on myself yet.
Before I started my exercises I worked with a Physical Therapist for a while to help my mobility and get me prepped for exercising. It was a major help for me. The only thing I've found that helps is the gluten free diet and stretching (like yoga and/or physical therapy).
I think there are some limited trials going on here in the US but not much news is developing from those just yet. I was going to join one but I needed to travel to another state for a couple days for it and I didn't have any time off of work so it didn't work out for me . I wouldn't have learned anything new anyways...they would have compiled the results and years later would have come out with the research.
I'm so glad that you decided to post on this forum. I feel like I never can find anyone who can relate to my symptoms. So glad there are still some people out there looking for others to chat with.
Wow yes it definetly sounds the same as what ive got! I dont know if i mentioned it in my previous email, but im not meant to be in a wheelchair, but by the time we figured out what i had my muscles were too week to walk so now i need to rebuild them and will be able to walk if my contractures dont hold me back. So besides from the walking part, we definetly have the same disease!!!
I was diagnosed through a skin biopsy, similar to a muscle biopsy but a lot less intense. they pretty much numb a part of your body, in this case they did it on my lower arm. and they cut a circle of skin out then stitch it back up. It doesnt hurt, i watched the whole thing! hahaha
Then they took the skin to grow over the east of Australia, and it took about 2 years to grow then i received the results. A muscle biopsy is much quicker.
I have also had a muscle biopsy when I was like 3 or 4. but back then they werent familiar with Bethlem Myopathy so they diagnosed me with kind of having something else, but werent 100% sure about it!
You should definetly get tested, but then again you sound like you have all the symptoms so it would probably be a waste, but would put your mind to rest!
I have physio every week and if I could afford it i would have it everyday!!! Unfortunatly money doesnt grow on trees! But I would have stretches as often as you could because when I was in a rehab centre for this, My leg contractures loosened a reasonable amount just by stretching them with weights every day for 5 weeks!!!
Because I am not walking Im not really in any pain, except for when my contractures tighten cause they need to be stretched or my back and neck hurts at times. But nothing that Nurofen or Panadol doesnt fix!!! Or some awesome heat packs! haha
Yes the same thing is with me, Every clinical trial you have to travel. And Australia just doesnt have anything so its all international, America, UK and Italy!!!
But there is this one similar to what you said in Slat Lake City! And he just wants permission to survey me and look through all my files! So its pretty easy, so im gonna sign the consent form for him!
Darn it....I just wrote a really long post but my browser messed up and erased it grrrr...
That's really too bad that they waited so long to find your correct diagnosis that you needed a wheelchair. I'm sure that if my neurologist hadn't sent me to physical therapy that I'd eventually need a walking aid in about 10 years or so.
Odd question but....do you ever feel like your legs need stretched when you are laying in bed? That's when I notice it the most like my hamstrings/hip flexors need stretched so I end up contracting them off and on throughout the night while in bed. I didn't know if that was something just unique to me. I don't know why I notice it the most while in bed.
Wow that skin biopsy sounds really neat although it takes so long to get the results. I've never heard of that as being an option to finding out if I have this disease or not. My neurologist told me about taking blood and sending it away to a lab to check the DNA structure or something and also about a muscle biopsy. He said the muscle biopsy is obviously more invasive because they have to cut into you and take a sample of muslce and then stitch you back up. He said that my insurance would probably not cover either option but would probably cover more of the DNA blood test option though. I've been lazy since being diagnosed last year. I think it's partly because I've spent SO MANY years looking for what was wrong that I'm satisfied, for the time being, with what he told me. Now I just need to gather some money together and try to get one of those tests done.
Yeah I wish I could afford physical therapy everyday too. I can barely afford it but once a week and now my insurance has changed again and it no longer covers things the way it used to so now I don't go at all. But, when I was going, we did some stretching with weights too and the therapist measured my contracture degree and it was definitely getting a lot better over time. It actually didn't take long at all. I wish I could still go see him. I remember him having me hold a weight in my hand while letting my forearm hang off the edge of a counter to try to straighten my elbow contractures. It hurt so bad after holding it there for 15 minutes or so. I never did it again after that lol.
I am in pain a lot of the time. Mostly it's pain because my legs feel sore and heavy. It's almost like when you get sick and have the flu and your body just aches. That's really good that you don't feel pain most of the time though! I need to try the heat packs, I haven't done that yet.
That study in Salt Lake City sounds easy enough of all you have to do is sign a form to let the person review your file. Yes, please do let me know if you hear of anything worthwhile. This is such a rare disease.
It really is so nice to be able to talk to someone. It's so hard when NO ONE can relate to you. You don't know what to tell your workplace when you are feeling bad and just can't make it to work, ya know? So glad you found this site and decided to post on it!
Wow that's surprising he didn't suggest a skin biopsy! But then again different countries do different things.
Yes I always feel like my legs need to be stretched, sometimes my arms too, probably cause mine are quite tight. I think it's because you are relaxing the muscles but sometimes it's also because they actually need to be stretched out.
I bought these weight like sand bag things. Just heavy weights that you can lay on your knees, I think people usually wrap them around their ankles to get a work out when walking. I put these on my knees for 15 minutes if I feel like I need a stretch! It isn't a great feeling, its a strong stretch but it releases the contracture a bit and makes the stretch pain go away!
It's kind of the same here, I can only have physio once a week cause it's pretty expensive but my health cover insurance covers a portion of it. So I bought all these different weights for both arms and legs, hand exercise gels, kinda like tough play dough. I've had hand splints and elbow splints made up to give a long stretch when I feel like wearing them. This way I can stretch and exercise by myself with out having to fork out lots of money!
You should give the weights a go when you get sore, I know it's not nice but it does help!
Yer I don't think you need to have any tests, it's pretty clear you have Bethlem myopathy!
The thing I find the hardest is actually trying to do exercise or stretch in my own time, cause I can never seem to find the time!!!
I'm sorry it's taken so long for me to reply to you! I didn't see the notification that a new post had come through....
Yes, that would have been nice if he would have offered a skin biopsy. But you're right, probably different countries do it differently.
Do you ever find that your shoulders (upper body) are weak? I've noticed as I've been doing exercises that my upper body is completely weak almost like there is no muscle there.
Hmm maybe I could call my physical therapists office and ask him about the weights thing.....
Have you found that the splints have helped at all? I would like to get tested just for peace of mind but I know in my heart that BM is what it is. Everything matches perfectly.
Lol I could never find the time either when I was going to the physical therapists. I do exercises now and find the time but I think that's because I know I am trying to lose inches too (not just work on my contractures). I do plenty of stretching with my exercises though. I think I may have overdone my workout last night though. My whole body is shaking and hurting today and I just feel like getting sick from exhaustion and I'm SO sleepy. Blah. But it's Friday at least! How are you doing lately?