Hi Vickie!! You have a Beautiful Family!!
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 firstname.lastname@example.org
Hi Vicki, I left a post in your discussion. Did you find out whether it was alpha-dystroglycanopathy or alpha-sarcoglycanopathy? If it is the latter, I can give you tons of info on it as it is what my son has. I hope all is well.
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.
Hi Vicki - Glad you found this site. I know that this all new to you and your family. There is a lot of information to process and digest. It does get better over time. Feel free to reach out and ask questions. We are all here to help each other.
You have a beautiful family by the way. I look at it this way there is alot of worse things that could be wrong with our boy's. I'm just thankful that I have the kid's that I have I couldn;t ask for anything else. I'm just glad you have a strong family. Having a strong family is the key for everything.
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! =)
I would just like to offer you some encouragement that with the right care you son can live to be as old as his 30's. There is alot going on in the way of research and all though there is no significant treatment or cure right now, I still have hope for our young boys. The key to a longer life and longer mobility is proper care! You have to find a good team of Dr.'s! What area are you in? Please contact me anytime. I will be praying for your family.
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.
I just read your blog and remember too well all those feelings. I wish I could show you the changes and hope, in just the 5 1/2 years since Jack was diagnosed. You need to know that Chantz has an amazing future and will be part of things that parent's of DMD boys could not even image only a few years ago! Head up girl, you are strong and you can do this!!!
Julie's right. You are in good hands. You can come here to ask advice or just vent about a rough day. Enjoy your little guy!! Above all else, I have learned that every family has a different definition of normal!! Trust me, it will begin to feel normal again. Ryan was diagnosed in May, and I still have days that I cry!! I've come to realize that "it is what it is..." I don't know if you are a spiritual person or not, but my family's faith has helped to get us through so far. I trust that God will help get us through this rough and rocky time. Just have faith, and hang on!!! And remember that there is hope for our boys!!
My son was diagnosed when he was almost 10 years old and is now 16 years ols, soon to be 17 on 12/16. When he was diagnosed we were given nothing, no support, no physcial therapy, only the advise to go home and enjoy him for as long as we can. We were'nt going to stop enjoying him and to this day enjoy his smile, his sweet eyes. He is the youngest of our three together. It has not been easy. My mother passed away the following year. She was my rock. I never grieved my mother's passing because I am so consumed with my youngest. I can tell you I miss my mother and father (passed away in 1974) but I take in life what they taught me. I try to optimize life and make the best of what I can and enjoy the moments in time. I have joined PPMD in DC for the past 6 years to advocate for our children because it is the one thing I can control. I work full time and I take the opportunities that come up in my work to go out and talk about PPMD in order to get more money for research. I have been about the past couple of years to raise $8,000 from my company of 20,000 employees. We have what some companies call United Way but ours is Campaign for the Community. They allow speakers to come in and talk about charities so I given the opportunity talk about PPMD. I am not a speaker and it shows. They see a mother, fellow co-worker, sharing her story and pushing to help bring change. So, I am able to get donations for PPMD. I help educate and raise awareness. I never thought I would ever do anything like this. This is the direction my life has gone for me. I don't know what the future wil bring. I only know I want to help make positive changes. I don't know if what I do will help my son in terms of research. I do know and believe we are close to helping all the children and I hold hope still for my son who is soon to be 17 years old.
I know I have said alot and I hope I have not talked to much. I want you to know there is hope, you have a good family support, life has changed for ever but you can still move forward and be positive. There are hard times but our children's smiles and beautiful faces are what it is all about.
I am so sorry to hear about your son. You are very fortunate to have a strong family and this will help as time goes on. I can tell you I believe there is so much going on and there is hope. Hold tight and look at all the ways to optimize your son's care. Take a deep breath and try to take one moment at a time.
You are in good hands with the people here and Parent Project Muscular Dystrophy.
Welcome to PPMD, Vicki! My son was diagnosed with DMD in May of this year. He just turned three at the end of August. This community is great for finding comfort and information from others who are going through the same thing. I hope you find what you are looking for. :)