Hi I am a manifesting carrier of DMD. I use a walking stick and a mobility scooter for distances. I am mum to a son of 26 who also has DMD. He was diagnosed first then I was diagnosed 6 months later (that was 20 years ago now). Would love to know if there are any other manifesting carriers out there.
hello i have been diagnosed as the same. manifesting carrier of duchenne. I am 24 and have no children but i was diagnosed from my muscle biopsy results. I had a really high ck and symptoms related to manifesting carrier. How have you coped because I have yet to come to starting a family of my own and not sure what to expect.
Hi, I was diagnosed after my son (aged 6 at the time and I was 32) so never knew I was manifesting until then. I have thalidomide damage to my feet so all my balance problems and inability to run etc was put down to that. I didn't have a muscle biopsy as my CK levels were so high. I am now 53 and I find I tire more easily and the muscle weakness has worsened somewhat so that I use a mobility scooter for distance. I am also in touch with another manifesting carrier who is her 70's now. She had three sons - one of whom had DMD and the other two were healthy. Still the DMD didn't stop son and I from getting our degrees - we were both at the same university at the same time did wonders for his street cred - not!!
Yes i noticed that most women dont find out there a carrier until they have a son with duchenne. Only reason i got tested was because of my symptoms and high ck levels. I dont have any family history that is known of this either so it seemed quite bizzare to the practioner and i was told it was unlikely it was something genetic by a rheumatolagist and didnt even think it would be. He just said myositis but when i seen a muscle specialist i explained my history and symptoms he done some strength tests and straight away he thought it was either limb girdle muscle dsytrophy or a carrier of duchenne. I am so glad i went back to the specialist on bupa because if it wasnt for him i still may not know what has been wrong with me all this time. Its a relief finally but obviously there is a lot more to come in the future when i want a family. Is there anything that helps you with you symptoms to feel better? im just having some physio due to my weakness. Also had glandular fever a few years back so i guess having this in my genes and that illness has rele made me struggle over the years with feeling poorly all the time and muscle aches.
I prabakaran from India I have Limb Girdle Type,I taking siddha treatment for my type still i little bit walk on flat floor,and Acupuncture in pondicherry,Tamilnadu,India is get back me previous positions but discontinue the treatment.
Unfortunately there is no help whatsoever for manifesting carriers of DMD here in Scotland (and precious little for our sons either). Neither of us get physiotherapy as the Health service will provide it for a broken leg but not for people who need ongoing physio. Basically its put up with and get on with it Im afraid
I'm manifesting carrier too. I'm 19 years old.
I'm a Chinese girl.When I was 9 years old diagnosed with
BMD in China. I moved to USA last year. And a few months ago I did some test in NY shows that I'm manifesting carrier.Now i can't go up the stairs bymyself,can't stand up when I squat,I walk like 5 minutes and need rest.I want to know how you guys doing. Please contact me.
hi there - my daughter (7) has just been diagnosed as a manifestering carrier of duchenne muscular dystropy. I knew that there was something wrong with her only to be treat like a neurotic mother by the school she is at despite her doing poorly at school. I was lucky that my doctor took my concerns seriously and sent her to a paediatrician who did some CK tests. Se was off the scale. I was told that for her age she should have been somewhere in the 200's. however her first results came in at 3700 and second test 2700!!!! She doesn't show too much in the way of muscle weakness at the moment - it is coming out more in her learning. I am currently waiting to be tested as a carrier although I have never shown any symptoms whatsoever. I am worried for my daughters future as I don't know where this illness will take her/affect her. I thought I would post on here as it seems hard to find people who are manifestering carriers and want other people to know that they are not alone. We live in East Yorkshire in the UK x
Hi Shaws! wowe to find out at that age for a girl is rare! i suppose these days people are more aware of these things "sort of" when i was used i had learning difficulties with reading mainly and had a terrible stutter. luckily i grown out of it but from a young age i always noticed i had large calfs compared to everyone even the boys but i then blamed that on the sport i done although thinking of it now they have never been strong just large. I had a pretty much normal life till i was 16 and thats when i started to notice id get tired easily and get cramping really bad after little exercise and muscles would twitch loads in class room but i always thought it was normal. well few more years on i lost a lot of weight and my biceps have never been the same with muscle and i noticed that my arms were really weak considering i was physically active but that when started to get worse and when i had glandular fever age of 22 i noticed other joint problems and tiredness and muscle weakness was noticeable. I started feeling ill like all the time and anything little i seemed to get really ill with. Well i had enough, done a bit of research and a muscle specialist done a load of tests.. well i got my dna results back about 4 months ago which confirmed that i was defo a manifesting carrier of duchenne. I think women get it differenly but I do wish the problems i had growing up that i could of had someone to talk to and understand me. But getting these results now woowweeee im sooo glad! its made me realise that nothing ever was in my head when people would talk down to you and question y im always getting ill or tired.. well we now know! and its certainly helped me mentally to deal with it and get on without wondering whats wrong with me?? im here if you need to talk! i live west midlands x
I know this forum hasn't been active for a while but I figured I would still try and reach out and see if anyone responds. I found out I am carrier of DMD when I got tested at age 18, though my mom (who also was a carrier for DMD and have several brothers with it) knew from an early age I had it because I would have intense muscle aches and cramps growing up. I never knew why but it all made sense when she told me, she didn't want me to worry about it growing up. Throughout my life I occasionally still got these muscle aches and cramps though they seemed the most intense during childhood they appear to be coming back more frequently now (I am 26). I am contacting you guys because I am curious how you went about getting tested for being a manifesting carrier. I know I am a carrier but it was never tested if I was a manifesting carrier or not. Could I just go to my regular physician and ask to get my CK levels tested or do I have to go to a genetic counselor? I live in a somewhat rural area so finding a hospital that does genetic testing might be tough but I would be willing to travel if that's my only option.
Either way, thank you for your advice. I have never really connected with any other carriers and it was really powerful reading all your stories and experiences. I wish I had more of a conversation about what it means to be a carrier with my beautiful and amazing mom but she passed away a couple years ago and I haven't really been able to find others in my situation since.
Just came across this page today - is really interesting to read about peoples experiences. Skyeager - I am assuming you are based in the US from my experiences in the UK I would suggest seeing a genetic counselor as they will be more familiar with the condition. However, if you have to travel may be worth speaking to your physician and going from there. I have known that I have been a carrier since I was 12 (32 now) noone in my family has ever had duchenne had a biopsy but was never officaly told I was a manifesting carrier. I became aware that I was a manifesting carrier about 5 yrs ago from doing a little bit of reaserch - finally have a letter diagnosing me so no more questions from GPs and trying to convince me that there is something wrong with my liver and that I need unecessary tests.
Hi there, my wife has been recently diagnosed as a Manifesting Carrier of DMD, we are from Brazil.
My wife is now 33, there is no history of any kind of muscular disease in her Family, and she even has a health brother over 40. We did not even know about this kind of disease before.
She started to feel some asymmetrical weakness in her left leg I think 5 to 6 years ago. The final diagnostic was a long journey. Here in Brazil few orthopedics doctors guessed many different causes. Until one physiotherapist asked her to go see a neurologist. Even then, we have to go past three doctors to find one that finally asked for a CPK exam, and followed with an Electromyography (EMG). The EMG pointed to a girdle-wait dystrophy or metabolic disease. After that, she went to a new specialist linked to a University here, to do a biopsy. This exam pointed towards an inflammatory disease (Polymyositis). Another error, it was almost 2 years ago.
At the time, she started with daily sessions of physiotherapy to try to regain or at least retain her strength. The process was long and arduous, but it finally started to show some success starting a year ago. However, all her physiotherapists were somewhat incredulous of the Polymyositis diagnosis. She did not have any of the usual pain associated with this kind of disease. Later her doctor seeing her progression, lack of pain, and a good clinical response to supplements like L-Carnitine and Q10, changed the diagnosis to Metabolic Disease.
We wanted to be sure about the diagnosis before starting our own family. So went to search for a genetic specialist/center about it in another University (Project GENOMA at USP). We paid for the exam and after the waiting period came the diagnostic: DMD carrier, manifesting one.
The doctor and physiotherapists think she has a very mild version, because she has been able to regain some strength (she is already going up the stairs alone, a few steps at once only, but progress nonetheless) and that she might be able to regain almost all her strength for now.
They said it’s hard to predict how the disease is going to progress, because no one really knows deeply how the cell “choose” which X chromosome will control the protein production. There has been reports of patients that had minor or major strength loss. Reports of patients that lost some strength and stabilized there. Other cases the patients loses and gains strength without some specific cause.
The only thing that they are sure is that of the chances to pass the bad gene to the children, and that is very common for manifesting carriers of DMD to lose strength considerably during the pregnancy and not regain after.
We found out researches were some patients also had the liver function exams affected, but with no real liver damage or problem. There is the possibility of cardiac problems (but nowadays, everyone is at risk without a good died and regular physical exercises, so, no stress on this point).
Well. She will keep the physiotherapy sessions twice a week now. With Pilates sessions another two days in the week. So, besides that, all that we can do is to let more people know about it (so with luck, their diagnosis time can be a lot shorter), pray, and hope for the better.
Our best wishes for you all.
Your profile name is great, very cute . Thank you so much for your response to my post, I honestly thought it would likely go unanswered and collect dust deep in the archives. Thank you for the suggestion to go see a genetic counselor. Until recently I assumed most doctors are knowledgeable of the disease but I am realizing it might be worth to make the trip the see a DMD specialist. It’s funny you mention the liver tests. This past month I have been called back for several tests because of my liver levels. If you don’t mind me asking, what did the process entail that confirmed you were a manifesting carrier?
Thank you again for your help and advice in advance, it means a lot to me to hear someone else’s story, I have had a difficult time connecting with people thus far so I really appreciate it.