Congenital Muscular Dystrophy

Question: What is Congenital Muscular Dystrophy?What is the life expectancy for someone with merosin positive CMD? Hi,my name is Holly and I have Congenital Muscular Dystrophy.I have merosin positive CMD.I was wondering if someone could give me an idea of my life expectancy is and what CMD in general is.Thanks!!!!!

Answer: Congentil Muscular Dystrphy affects your voluntary muscles and it is a degenerative genetic disease. It is more fully explained on this web site. http://search.nlm.nih.gov/medlineplus/qu…

Question: Who has a child with Congenital Muscular Dystrophy? My daughter has Congenital Muscular Dystrophy and we are setting up a foundation/registry to create clinical drug trials. Please email me if you have a child with CMD so I can give you information on what we are trying to accomplish. Joe Pinkelman

Answer: That is good of you. Good luck in your endeavor.

Question: Problems With Congenital Muscular Dystrophy? i have the Congenital Muscular Dystrophy about a 17 years(of course it is coming from my birth),nowadays i really lost so much weight,i am 25 or 30 kilograms right now and i have some problems when i try to breathe,does all this things are coming from this dystrophy or this breathe and weight stuff are coming from something else?

Answer: The problems you experience are most likely coming from the disorder you have. If you have any questions about it, contact your pediatrician and see what can be done to help you. (Pediatricians normally deal with adult cases of CF and MD because they have the experience.)

Question: How do you explain Muscular Dystrophy to an unaffected sibling? Hi my name is Holly,I'm 13 and I have Congenital Muscular Dystrophy. My brother who doesn't have MD recently asked about why I have a wheelchair. He is only 5 years old and I have told people about my MD. But,how do I help him understand it??? Thanks!!!!!!!!!!

Answer: Keep it simple so he'll understand. Tell him that when he moves his muscles, the brain sends a signal to the muscle to move it (like a telephone). Then explain that in your body, the brain has a hard time making the phone call down to your legs (etc.) to get them to move.

Question: What do you think about someone with Muscular Dystrophy? Hi,I hae Congenital Muscular Dystrophy,I was wondering how people think life with MD is and in general about them. Do you pity someone with it or just think they are like you?It would also be very helpful if you could help me get more info on Congenital MD,because of how rare it is I am in need of more info. I have merosin-positive Congenital Muscular Dystrophy,thank you very much for your help!!!!!!!!!!!!!!!!

Answer: I also have a type of MD. It's actually Spinal Muscular Atrophy, Type II. I live on my own with my boyfriend and two cats. I use a power wheelchair, ventilator, and a variety of high-tech and low-tech gadgets. I hire assistants from 6 - 9 hours a day to help me with my personal care and household maintenance. I've been working since 1987, and am currently running my own business. Answering your first question, I think people with MD or any other type of disability are both the same as and different from non-disabled people. Of course we're all individuals and different, but we generally are just regular people living under a set of circumstances that are unfamiliar to much of the world. On the other hand, we do indeed experience the world from a different perspective and we are often treated as though we are very different. I don't pity people with disabilities, but sometimes I am concerned about someone if I see them feeling bad about themselves or if they're being treated poorly by people or bureaucracy. As for your second question, here's a web link to a page about your disability: http://www.mdausa.org/publications/fa-ra… It may be information you already have. In my experience, the best information I've gotten has been from others with the same disability as mine, or folks who have disabilities that are similar to mine. Your specific diagnosis sounds similar to mine. You might enjoy getting to know some of us at an SMA on-line group I found a few years ago. It's the only one I've been able to find that has a lot of adults. Most such lists are parents looking for support about their disabled child. There a quite a few folks who don't have SMA on the list, but they have similar physical attributes. Check it out! Maybe I'll see you there...I'm Alana http://groups.yahoo.com/group/SMAfriends…

Question: What is your definition of disability? Hi,I have Congenital Muscular Dystrophy I am always hearing things about my disability. I was wondering what people define disability as. Thanks!!!!!!!!!!!!!

Answer: This will be short. I feel it is someone that need the help of others like friends and family members to help cope with there medical problems.

Question: I'm a disabled person and i want to play guitar? yesterday i bought a classic guitar and i have congenital muscular dystrophy disease... i can handle the guitar but the keyboard of the guitar is too thick for my hand and i cant push the strings to the fretboard..so i cant play the chords.. can you give me some advice for a playing position? ..or you can give me a link for a diffrent type of guitar that i can play...

Answer: You can do it Good Luck...

Question: Christians: Regarding children and suicide? I went to a funeral for an eight year old today, who committed suicide after going through his fifth surgery for CMD, Congenital Muscular Dystrophy. He was in my support group, and the whole group came to his funeral. Because he committed suicide, the Catholic family was not allowed to bury him according to their beliefs, because they have doctrines against suicide. Several protestants who attended, disagreed over where he was. One said that he was in hell because he committed suicide, and another said he was with god because he was under the age of accountability. From a Christian perspective, what do you feel happened to this boy, and why the disagreements? PS: I'm not a Christian, but I would like to understand the idea. I'm not judging any of you by your answers, and this will eventually go up to vote.

Answer: This boy was too young to understand suicide and what he was doing. He was growing up living a life of pain and did the only thing he could think to end it. A just God will NOT send this poor child to Hell.

Question: Fund raising help and awareness of life limited daughter? I have a 8 year old daughter who suffers from a life limiting muscle wasting condition called " Congenital Muscular Dystrophy". Her condition is deteriorating and she now is suffering from pains in her back,hips and legs. Im trying to raise funds for a specialist seating system which we hope will ease her pains and give her some comfort. Im struggling getting people interested in any events. I have been in local paper and on local radio about our plight to give Sophie the life she deserves. Has any body got any ideas that may help? For more information on Sophie's journey through life please visit www.sophiegodbertrust.com Thank you.

Answer: Try to Contact Bill Gates, Warren Buffet or Oprah Winfrey. The economy is hard on everybody and dont be disappointed if you dont get any donation from the Masses, ask the well to do and Rich Kids...Good Luck

Question: PTC 124 Question? today i saw it on a newspaper that PTC Therapeutics has been found a cure for Duchenne muscular dystrophy called PTC 124..i wonder this so called "cure" could be used on congenital dystrophy?

Answer: PTC 124 is for Duchenne muscular dystrophy and not for congenital muscular dystrophy. The proteins necessary for muscles affected by the genetic mutations in both muscular dystrophies are different. In Duchenne muscular dystrophy, dystrophin is affected while in congenital muscular dystrophy the mutations afflicting the muscles are on other proteins. Read more: http://www.emedicine.com/neuro/topic549.… PTC 124 is used to halt the process causing Duchenne muscular dystrophy.