i just wanted to give a update, chantz is doing ok and he is going to thearapy and stuff. We just found out that his little sister mikayla, is now in consern her cpk levels are higher than his she only 3 and her level was at 4000 and chantzs was at 3000. so now we have to start all over with her, i am torn apart i didnt think that my heart could break anymore but i was proven wrong my baby boy and now my baby girl. what is a mom supsosed to do?
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This is the first time I've seen your page. This is also the first time I've seen anyone from Wichita. I am originally from Wichita and moved to Texas 5 yrs ago. Good luck and God Bless
Here is a paper on the range of alpha-dystroglycan disorders. Basically if you didn't see sympoms at birth it shouldn't be one of the severe ones. Once they have more info from the blood they should be able to pin it down. Here is a good site to look up some of the terms in the paper - look under CMD and/or LGMD (because some of the dystroglycanopathies present like a couple of the LGMDs).
Also, I'm going to see a Dr. Bonnemann at Children's Hospital of Philly soon for my son -
he specializes in both CMD (dystroglycanopathy and others) and LGMD (sarcoglycanopathy and others). He has published a lot of papers and is at the forefront of research. If you find your doctors are at a loss I suggest you go see him. I haven't seen him yet but from his credentials he's one of the best in the country for both what your son and mine have. It is important to see someone who is very specialized - obviously based on the rarity of your son's disorder (and my son's) since they are both rarer than Duchenne - your son's even more so. Best of luck. If you have any questions write back to me on here or at email@example.com
I apologize for not getting back to you sooner! The whole family had the virus this week and it's been crazy! I have to echo everyone who has posted on your page by saying that I too am glad you found this site! PPMD and all of the parents here are the BEST at providing support AND education!! As for your question about what your doctor will explain and my son's deletion of exon 45....well, the truth is, who knows what your doctor will explain to you! I have been unfortunate that we don't have very good doctors here in south louisiana and since my son was diagnosed in January, I already know ALOT more than our MDA dr. here does!! I am not kidding! We are choosing to see a dr. in Cincinnati (Dr. Wong..you may have seen a bunch of stuff about her on this site already). Since January I have tried to learn ALL I can about DMD and other parents have been the BEST sourse of information! Keep searching this site and ask as many questions as you can! We learned from DNA testing that my son Riley's mutation is a deletion of exon 45. This may all sound greek to you as it did to me in the beginning but you will catch on quick. I can do a much better job of actually explaining it to you over the phone so please feel free to call me anytime! I do work during the day, but my job is very flexible, so if I can't talk I just don't answer. I am also up pretty late at night so you can call anytime in the evenings too. Please call my cell when you get the chance, I'd love to talk with you! My number is 985-713-1634.
I got your maessage and wanted you to know that you and your family have been in my prayers. I think every parent on this site can attest to the fact that it does get a little easier. Just take life as it comes. I am glad to hear that the therapy has been helping Chantz. Keep your chin up! =)
We understand your anger and feelings, all I can say is that you need to take it slowly and deal with all your emotions. Each person has a different way of doing this, so do it your way. Your son will be here for a long time yet, enjoy him and never loose hope for that effective treatment or cure, but don't bank on it and loose precious time, live each day.
The things we have gained from this "bad news" have enriched our lives, we do so many things now, today is important and use it wisley, something we all should be doing, but somehow had got into a rut of leaving it till tomorrow. Sometimes tomorrow never comes.
Please look us up if you need an opinion or just a fellow parent to give you a boost every now and again.
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