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Hi. My friends’ daughter was diagnosed with bethlem myopathy. I am so worried about him, I can’t sleep at all. Maybe I am overreacting, but I don’t know what will happen to him. Can anyone tell me what the consequences of this disease are?

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Hi, I am 24 years old, and I also have bethlem myopathy. I was diagnosed with it ten years ago. I am doing some exercise such as pilates, and trying to delay the consequences as long as I can. I am 2 months pregnant, and the thing I’m most worried about is - how will bethlem myopathy affect my children. I know there’s a 50/50 chance they will be affected too, but every time I think of my baby, I also think of this disease. The researches showed that most of the children exhibit weakness during the first couple of years of life. This disease is a benign autosomal dominant form of slowly progressive muscular dystrophy with contractures caused by mutations in collagen type VI genes. The consequences are weakness of arms and legs and troubles with walking. In 20 years, I will probably not be able to manage the stairs. The thing is, we both should stop worrying that much, and concentrate on a good side of living.
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Hi fasbender! I am 25 years old (going to be 26 next week) and have been clinically diagnosed with Bethlem Myopathy. Would you mind if I could ask you a few questions about how you are getting a long with it because I have been thinking about having kids in the near future too. I can private message you but will wait for your answer first. I feel kind of alone as I've never met someone in the U.S. with it...only people from the UK.
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Hi I am 25 Years old and have Bethlem Myopathy ... I am currently pregnant only early ( 7 weeks) but im really nervous about it all ... I am having an amnio at 11 weeks to find out if my baby has got the disease and then I will
make decisions from there. Ive never met anyone else with the disease or spoken about it only my mother and brother who have also got the disease. I was wondering how you got in touch/ met other people with it?
And also if you had decided to have children ... I really want to meet or just speak to other people with it ...
Hope to hear from someone soon x
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Hi! I am 26 years old and I posted last (right above your posting). I don't have any children but would LOVE to keep in touch with you throughout your pregnancy (if you are willing from time to time) because I am really nervous about getting pregnant with this disease. My rheumatologist said I may need to have a cesarean section because while having a child naturally would be ok for me to, it would be extremely uncomfortable (not that birth is ever comfortable) because my tendons and joins don't flex well at all. Have you heard this yet? My disease is pretty mild and I can still walk etc. without a walking aid and most people don't know I even have it. My most prominent features are tiredness, muscle aches and extremely tight tendons which cause contractures. I haven't had much luck at all getting in touch with other people with my specific form of the disease but I have found a somewhat helpful forum based in the UK about general muscular dystrophy and sometimes I talk to people on there. I'll private message you the web address if you are interested? Hopefully we can talk more.
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Yeah I would love to keep in touch with you ... I have my dating scan tomorrow ... I have not been told about the cesarean section but now I will definately look into it - My mother gave birth to me naturally and she also has the disease! How do you feel about the fact if you get pregnant your child may have it as its 50/50 chance? I seem to be losing many a nights sleep over the situation at the moment .
I seem to be alot like you - I can still walk not too far but far enough for my day to day activities, My main struggle is climbing stairs, getting myself up if im on the floor, Lifting and the fact I cant wear flat shoes. Not many people know I have it either although I dont seem to hide it from people as much now im getting older.
So how doid you get to meet people in the UK with the disease and where abouts do you live?
Thank you very much for your reply -You have made my day :) x
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When I talked to a neurologist at the Mayo clinic about the cesarean section she said that she thinks I'd be ok to give birth naturally if I wanted but it's something I should discuss with my gynocologist in conjunction with my rheumatologist. Then my rheumatologist said that she just thinks I'd be more comfortable with a C-section. Did your mother say there was anything "different" about your birth (when she had you) or the pregnancy? I am not scared that my kid my get it but that may just be because I have a very mild case and am quite mobile. It could be that if I had a kid and they got it, it could theorhetically progress more rapidly than my disease course. What about you? It's definitely something to think about but I am actually more scared about after I give birth about falling asleep with the baby crying. There are times when I hurt so much and just get so fatigued that I just have to lay down and sleep. Do you have this fatigue too? I also have somewhat of trouble climbing stairs I can go up a few flights and then my upper thighs just get so weak that I can barely lift them up. I used to get so mad at myself and wonder what was wrong and why I was so weak (before diagnosis). I can pretty much wear any shoes, in fact I wear flats to work practically every day. I don't have too much trouble getting up off the floor either. Do you have contractures in any of your joints? I have them in my fingers (mainly pinky fingers), wrists, neck, elbows, hips, knees and ankle's...so pretty much every major joint. It's not so extreme that anyone notices though and I compensate fairly well with it.

You say your mother and brother have it? Are their symptoms similar to yours? How were you originally diagnosed? My diagnosis is only clinical because I can't afford the genetic blood testing but I've see 2 different neurologists (one at Mayo clinic) who both believe this is what I have. Do you have to pay a lot to see if your unborn child will get it? I have a lot of questions and I'm sorry but I've waited for a couple years to actually get a hold of someone with the same disease as me. I live in Omaha, NE in the United States. What about you?

I talk with people in forums on http://community.muscular-dystrophy.org/. I'm not sure if I'm allowed to post that or not. I use the same username as on here. I tried to click on your name to private message you but it wouldn't let me. Are you a registered user on here? We can continue to talk through this forum or some other more private means if you'd like too but I think in order to give you my e-mail we need to send each other a private message (rules). You've most definitely made my day too...like I said I've waited to talk to someone for so long with my exact same disease.
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The childbirth part really doesnt bother me ... But I really dont want mt child to have it ... The screening is free on our health service whick is fab! If i want i can also have my negative (without bethlehem) eggs fertilised and do it that way if it fails this way and that is now also free. My Mother doesnt know any different so to her it was just childbith. I dont sufer with fatigue really no and i would really struggle with a few flight especially if the stairs are steap?? I constantly stand on my tippy toes lol i cannot stand flat to the floor ... and my brother and mum are the same ... our feet are also quite broad so we struggle for comfy shoes and its arder for my brother because he cannot wear heels.
I live in South Yorkshire in England ... Im not a registered user but I will make one tomorrow ...
Isnt it strage how the cases are different ... We got diagnosed when I was about 8 after my mums long battle with it
they took muscle biopsys x
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I wouldn't want my child to have it either. Wow!! That's really good that you guys can get it paid for in the UK...especially about the fertiziled eggs. I understand that your mother doesn't know any different so to her it's normal. Yes, the stairs were steep. I used to try to do the stair machine at the gym but that didn't work out so well. I do tend to "toe walk" more than most people but I can put my feet flat. I've somewhat worked with a physical therapist and he's helped me with the plantar fasciitis pain I had in my heels. He's also give me some more stretches that have helped. Have you worked with a physical therapist yet? My feet are also fairly narrow but a little wide in the front near the toe box.

Yes, with most diseases no one usually shares the exact same symptoms. Do you have any other joints that have contractures in them besides your ankles? Do your muscles hurt ever? My kind of feel heavy and kind of have a burning feeling like the same burn you feel when you go to the gym and are lifting weights (lactic acid?). I've had 2 EMG's before which they use needles and test your muscles to see if they are weak or not. My came back borderline abnormal. They were going to do a muscle biopsy but said since insurance over here doesn't really cover it and the fact that my EMG came back borderline that they didn't recommend it at this time.
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Yeah I have contractures in my elbows and wrists ... I get muscle pains if ive walked too far but I suppose everything is 'normal' to me the balls of my feet hurt and i get a build up of skin on them too which i have removed once a month ... I had my scan and I am 8 weeks and 4 days ... I have my CVS Testing on the 12th of Feb and then my results will be upto 2 weeks after x
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I just wanted to check up on you and see how things are going? Is anything new? :)
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Hi! I was reading all of your post and I am so happy that I found someone with the same problem. I have BM too and are planning a baby in the near future. I am mostly worried about how my body will react when I gain all the extra weight and also the birth part. How are you guys doing?
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Hi everyone my daughter who is 3 was diagnosed with BM as of yesterday and I am trying to learn as much as I can about it. She was born a healthy little girl but she wasn't reaching milestones (sitting, walking, crawling). After 1 1/2 years of PT she is walking about 50% of the time. She isn't a toe walker infact her muscles are very weak and not tight at all . Has anyone seen a child grown up with BM or has anyone grown up with BM? I'm curious what to expect. Thank you so much!!!
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Hi I Have the BM and didn't start walking on my tip toes until i was about 6-7?

I'm struggling with the baby part I had the testing at 11 weeks to see if my baby had the BM and it came back that it did so i decided not to carry on my pregnancy as they cannot tell me how bad strength it would be and I really want to stop it so I am not going the other way around things so that they take my eggs and fertilize them then they test to see which of the eggs has the BM and freeze the ones that don't them implant them Its just a long process and i really find it hard to believe that is actually 50/50 chance Also is anyone rom here from the UK? Xxx

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emmaLouise, How did they test for BM? Very curious.

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