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Subject :Deletion 45-47..
2009-01-08 07:53:57
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| cmorz |
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| Experienced |
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Joined: 2008-12-06 13:48:06
Posts: 30
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Hi Everyone,
We got the DNA test back; my son has deletion 45-47. Zachary had just turned 6 and had a CPK of 8000 (performed to figure out why he was toe-walking - the toe walking started off and on around age 5, but became constant as his 6th birthday approached.)
Zachary is basically oblivious and is doing very well. When he complained about having to do his heel cord stretches, I told him that he was missing a muscle ingredient and needed to work hard so his muscles wouldn't get tight. When he asked me why he was missing the ingredient, I told him that God made him that way. He didn't ask anymore questions, so that's all he knows so far. Now, we do the physical therapy without any arguments. His toe-walking has improved dramatically, although he still has a tendency to toe-walk. At his Karate lessons, he performs just like the other kids. You really can't tell a difference in strength at this point, but he does struggle with balance.
Accepting that my son has a disease has certainly been a process. It has taken us the last two months for this to sink in and for us to work through the shock of it all. Somehow we got through my son's birthday and the holidays, and my husband and I are finally starting to feel better.
I would love to hear from anyone who reads this. And, if you are reading this, and have the same deletion, I'm interested in your experience so far (although I know that makes no difference to each individual case).
There is no support group in Boise, Idaho, so THANK GOODNESS for this website! (I've learned more here than from the one MD specialist in town.)I'm glad I don't have to do this alone! Thanks for reading-Leighann, Zman's mom. |
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Subject :..
2009-01-10 01:19:08
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| Roxanne |
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| All Star |
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Joined: 2007-04-13 22:09:01
Posts: 370
Location: Canada |
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Hi Leighann, Welcome to Beckermd.org. :) I'm sorry for your son's diagnois. it's important to remember this diagnosis does not mean the end of the world for Zachary. Yes, he will have his struggles but who doesn't. It's almost 2 years now since my son diagnosis. He was diagnosed at age 7 with the same deletion as your son exon 45-47. Nicholas is doing very well at this point. His diagnosis came as a huge surprise. Yes, he had/has issues with balance (he nevered learned how to ride a two wheel bike) some toe walking at this point but not always. He has some minor weakness and does use a modified gower to rise from the floor. His hamstrings are a little tight and also his heel cords. We do stretches most nights, I give him a break on the weekends. He is slower than his friends and struggles with focus at school. other than that he's doing great! He is currently learning how to play the piano and is very good! He is a cub scout and loves camping. He also enjoys playing with his nintendo DS santa gave him for christmas. He is a happy little boy. There are times he will say things about his disease. He hates being this way and wish he didn't have weak muscles. we (his dad & I) always remind him that he is a very special little boy and we love him just the way he is. We wouldn't change him for the world. You might like to know that there are several others members of this website with the same mutation as our son's. They are grown men & are all still walking in their 30 and 40, I meant another mom just the other day whos son had the same mutation as Nicholas. I think this area is very common in BMD. Anyway, I have to go my youngest is hungry and would like a snack. Take care, anytime you would like to chat about things i'm here. |
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Roxanne Mom to Nicholas (10) with BMD |
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Subject :deletion 45-47..
2009-01-18 05:50:56
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| cmorz |
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Joined: 2008-12-06 13:48:06
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Hey Roxanne,
Thanks for the reply. It is nice to talk to someone who is going through the same thing. Your son has the same deletion and it sounds like he is doing great. And I am glad to know that there are people with this deletion that are in thier 30s and 40s and are still walking! When we were waiting for the DNA results, not knowing whether or not Zachary had Duchenne......that was a tough time. Thinking he could be in a wheelchair in six years was hard to believe because he is doing so well! So, yes, thank you so much for the reassuring information. I know everyone's experience is different, but any hopeful info is much appreciated.
I am getting a CPK test done this week to find out if I am a carrier......won't surprise me if I am. (I've always had a transient weakness about me.) But, my attitude is....."Those of us affected by Beckers....what we lack in strength, we make up for in personality!" :wink: And that certainly applies to my son!
I look forward to keeping in touch! - Leighann |
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Subject :..
2009-01-18 07:58:12
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| Roxanne |
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| All Star |
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Joined: 2007-04-13 22:09:01
Posts: 370
Location: Canada |
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Hi Leighann, it is most likely that you will find that you too are a carrier. Even if the test results come back negative then you could be a gemline carrier which means some of your eggs are affected. If it turns out you have the same mutation as your son it's important that you have your heart checked and your lungs as well. Some carrier (not all ) develop heart problems later in life. Anyway, Take care. Any time you like to chat you know where to find me. :)
Roxanne. |
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Roxanne Mom to Nicholas (10) with BMD |
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Subject :deletion 45-47..
2009-01-20 11:08:15
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| cmorz |
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Joined: 2008-12-06 13:48:06
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Hey Roxanne,
Again, I learn more here than from the doctor. My CPK turned up normal (79), so, we ordered the DNA test. So, if the DNA test comes back negative, I could still be a carrier? This is the first I've heard of this. This disease is complicated.....I guess I will find out more in a few weeks or so........Thanks for the info. Now, I'm going to look up "gemline" :?: |
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Subject :..
2009-01-20 22:15:32
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| Roxanne |
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Joined: 2007-04-13 22:09:01
Posts: 370
Location: Canada |
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Hi Leighann, Sorry- Germline Carrier is the correct term when a % of your eggs are affected... so eventho you may not have your son's mutation and it's determined your not a carrier there's still that chance that some of your eggs are affected... Your right, this disease is so very complicated. So much to digest. Good luck with your carrier testing. :) |
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Roxanne Mom to Nicholas (10) with BMD |
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Subject :..
2009-01-20 22:29:16
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| Roxanne |
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Joined: 2007-04-13 22:09:01
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Location: Canada |
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hi Leighann, here's a link to help explain things a little...
https://research.duchenneconnect.org/index.php?option=com_content&task=view&id=217&Itemid=199 |
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Roxanne Mom to Nicholas (10) with BMD |
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Subject :Just found this site..
2009-01-22 08:27:11
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| notSTOPPINGme |
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Joined: 2009-01-22 04:26:29
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My son Brian was diagnosed at age 6 (took months of eliminations of diseases} It was the same time of 9/11. I was a basket case!!! Now today, he is 13, a bright boy with normal kid behavior. Only a couple of times did he mention he was upset about having MD. ( slow runner, last one being picked for a team in gym,having to wear night splints) Well if you look at him ,he looks like any other kid. He has a para in school to help him with his schoolbag, but let me tell you, the other kids are eager to help with it too. They know he has "weak muscles" and they do what they can . High school is another 1 1/2 away and I"m gonna have a para for him there too (at least for the beginning part of the transition, then we'll see) My sons future will be as normal as me make it, that's how it is right now and we encourage him to be whatever he wants to be. We also volunteer for the cognitive research of kids with DMD/BMD through Columbia University, and get feedback from them every now and then. ( they are always looking for more volunteers too) Brian is taking creatine, co q10, and a multi vitamin. He gets PT and Ot. He's missing 45-48. And we have high hopes for his future! He is what he is ,and we take one day at a time. We're very proud of him !!! |
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Subject :Deletion 45-47..
2009-01-27 13:17:01
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| cmorz |
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Joined: 2008-12-06 13:48:06
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Hey,
Roxanne- thanks for the info. I thought I was going to be in the clear when my DNA test came back negative, but apparently not. I have a six month old also, and I really don't have the energy to be pregnant again, so I don't know why I'm so bummed out about this.
Notstoppingme - thanks for your story. I'm glad to hear that the other kids are helping your son. That has been a big concern of mine - acceptance. One big question that is kind of looming in my mind is this: Is this pit in my stomach always going to be here? I have good days and bad days at this point. But, I am just wondering.....as the disease progresses and the symptoms really manifest, does the grieving process start all over again? Or, after a period of time, does true acceptance finally set in even though progession can be seen? I'm sure that answer has a lot to do with individual attitude - (and I'm working hard to be positive.) I would like to hear about individual experiences with observing progression from anyone who would like to share.....thanks for the supportive feedback. - Leighann |
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Subject :..
2009-01-28 00:33:29
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| Roxanne |
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| All Star |
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Joined: 2007-04-13 22:09:01
Posts: 370
Location: Canada |
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Hi Leighann, I know how you feel. In the beginning the whole carrier testing thing didn't matter to me. I'm also finished having children, two is enough. I really didn't care about the results of my test. It didn't matter to me one way or another the bottom line is Nicholas has this disease & nothing was going to change that. When I got the results tho I couldn't help but feel the guilt that comes along with the whole your a carrier thing. I gave this disease to my son :cry: But after time I come to realize that just maybe I wasn't meant to know I was a carrier, Nicholas is a blessing and he was meant to be.. He's a great little boy. I am so very blessed to have my boys... :) |
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Roxanne Mom to Nicholas (10) with BMD |
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Subject :..
2009-01-28 00:48:17
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| Roxanne |
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| All Star |
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Joined: 2007-04-13 22:09:01
Posts: 370
Location: Canada |
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Leighann, Acceptance of this disease if very hard to come to terms with but I think it's important that we learn to acceptance things for what they are and try to move on. Life is too short to dwell on things you can't change. We as moms need to be extra strong for our boys, they will need our strenght to get them thur life. I can't say that I don't think of Nicholas future on a daily basis cause I would be not telling the truth. I wonder what life will be like? it's hard not too. I try to stay positive and think just maybe life won't be that bad.. Just maybe, his progession will be slow and he will enjoy a full life... have girlfriends, get married, have a good career etc.. Who am I to say this is not going to happen for him. I think if we stay positive they will too and life will be much better if you accept things for what they are. We will all still have bad days when we feel we can't cope.. I think we all have those days tho... BMD or no BMD. Having BMD in your life is hard but what choice do we have? With the right attitude you can over come alot and yes the feeling you have in the pit of your stomach will go away, I promise you. :) |
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Roxanne Mom to Nicholas (10) with BMD |
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Subject :..
2009-01-28 06:03:00
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| cmorz |
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Joined: 2008-12-06 13:48:06
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I'm not going to sugar coat anything. This has been the worst 2 months of my life. I feel like I was knocked out by all this and I'm struggling to get back up. I am getting up though.....slowly.........I'm glad to hear that the pit in my stomach will go away. I needed to hear that from someone who has already been down this road. I'm looking forward to TRUE acceptance........
And it's so funny that you mentioned girlfriends! My husband and I were laughing the other day about how our friends are fearful of their kids and dating, whereas we are going to be THRILLED when Zach has a girlfriend...(well, as long as he isn't too young...LOL.)
But, as far as support on here.....I appreciate you! -Leighann |
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Subject :..
2009-01-28 06:06:40
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| notSTOPPINGme |
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Joined: 2009-01-22 04:26:29
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Learning that your kid has MD is devastating, waiting for the results seemed liked eternity.(first results came back inconclusive ,so we had to do it again...12 weeks we waited) I was a total mess and like I said previously, 9/11 was going on...fighter planes flying over head, the smell and smoke in the air (I"m less then 10 miles from ground zero) I DIDN'T THINK I'D MAKE IT THROUGH THIS CRAZINESS !!! Well I did...it was tough, many times I'd cry. Nobody knew what I was going through. People would try to comfort me ,but they weren't in my shoes. Believe me your gonna have some sad days, but that will go away in time. Brian is my son ,I don't look at him like something is wrong, I'm here to be his Mom just like any other mom. I wish I knew about this site earlier , it's nice talking with other parents that have similar problems. Just remember even though you may have a knot in your stomach right now, YOU WILL GET THROUGH THIS !!! :D |
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Subject :..
2009-01-28 06:23:45
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| notSTOPPINGme |
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Oh I forgot to say...when we first found out ,and we went to the neurologist , he gave me a lot of hope ! He told me that his friend with BMD, (who is in his 60's ) just danced at his daughters wedding!!! Well every time I feel sad, I think of that. In my mind Brian is following that path. There is a lot of research with medicine and I believe there is a future for our kids !!!
THINK POSITIVE...you'll feel better !!! |
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Subject :..
2009-01-30 08:47:30
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| cmorz |
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Joined: 2008-12-06 13:48:06
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Hey notstoppingme,
Wow, that close to ground zero and having this diagnosis at the same time....that must have been awful. 9/11 depressed me as it was.....So, what were your son's first symptoms when he was 6?
Yeah, friends try to be supportive.....I've had a few friends who really have known what to say.....and a few that say things like "Well, he's going to be fine." And it's like......"Did you really just say that?" Some people are just knuckle heads.....but, that is why I like talking on here. I know that you all know how this feels. It's not just like the doc tells you that your son has muscular dystrophy and you are like....hmmmm...k...what's for dinner? This stuff takes a while. Awhile to mourn the loss of a "normal" future. Awhile to accept that your child will still have a life, but just a different life. I mean, I feel lucky that the diagnosis was not Duchenne. The poor families that have to go through that......it's horrible.
As far as the positive thinking goes.....it's coming along. I'll get there.......And I do beleive that there will be a cure for this one day, or, at least a treatment. |
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Subject :..
2009-01-30 09:31:14
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| Roxanne |
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Joined: 2007-04-13 22:09:01
Posts: 370
Location: Canada |
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Hi Notstoppingme, I think back to 9/11 and can only imagine how horrible that must have been for you. :cry: To deal with everything you had on your plate at that time must have been very difficult. I'm sorry you had to go through all that horror. BMD is a terrible disease and for me, it took some time to digest things.. I grieved for my son and the life I visioned for him. It took about a year and some visits to my doctor to come to terms with everything. I was totally living in a fog for a long while.. The fog has lift now. I'm learning to move on & stay strong for my son. I also come to realize that things could be alot worst than they are. There are many far worst things my son could have been diagnosed with and I thank God that he wasn't. Nicholas will grow up become a man, have a career etc. He can still grow to be a strong man.. A strong man in the most important way,,strong willed and know to never give up in what he believes in. Truck on & do the very best you can do. Make the very best of this life he was given.. and not dwell on things too much. I know there will be hard times for him. I don't have my head in the clouds. I know life will be hard from time to time; I should expect it. This disease will not be easy, I know that. I think with the right attitude Nicholas will get thur things and have a wonderful life even though it will be a little different than we expected. :) |
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Roxanne Mom to Nicholas (10) with BMD |
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Subject :..
2009-01-31 02:08:11
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| notSTOPPINGme |
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Brian was ALWAYS delayed in fine and gross motor skills, besides some speech problems. In 2001, he became very constipated and had the urge to urinate every 10-15 seconds . Was sent to a urologist and his pediatrician just kind of blew it off, so I switched pediatricians. New pediatrician knew I had good concerns and took his time with us. He ordered a lot of tests. Months later we got the results. I always knew something wasn't right...it didn't seem like just normal delayments. I love Brian's pediatrician, he gives you his time....as for the 1st one, I bad mouthed him to everyone.
We go every year to the MD clinic... cardiologists, neurologists, orthodists and pulmonary every 3 years. Brian has been receiving OT, PT, and speech since he was 2 !/2. Things have been working out...I'm keeping my fingers crossed !!! |
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Subject :..
2009-01-31 05:13:05
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| Roxanne |
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Joined: 2007-04-13 22:09:01
Posts: 370
Location: Canada |
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Hi, Notstoppingme, It sounds like Brian is receiving very good care from his team of doctors. Yes, all we can do is keep our fingers cross for a slow progession and for a treatment to come soon. Take care! |
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Roxanne Mom to Nicholas (10) with BMD |
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Subject :..
2009-02-01 11:15:21
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| cmorz |
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Joined: 2008-12-06 13:48:06
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Roxanne, I totally agree with you about the strong character that our Becker kids will develop. I find that it has already changed my perspective on everything. I have so much more appreciation for health, family time, the simple things and just not sweating the small stuff. Before this diagnosis, I could make a mountain out of a mole hill. Now, nothing matters to me except my family and what is best for them.
And - speaking of living in a fog - here's a story for you. My husband told me that he didn't have a good night at his card game. He said he played horrible and then, on the way home, he drove in the wrong direction for an hour before realizing it. (Yes, he was sober.) He then broke down, teared up, and said "I don't know what is wrong with me. I'm an order of magnitude dumber than I was 2 months ago." (This is totally out of character for him.) I just hugged him and told him that he wasn't dumb, he was just recovering from an emotional trauma. He described the situation the exact same way....living in a fog.......But, on the bright side, he played cards this past Friday and did much better!
Zachary was break dancing in the living room today. I video taped him. He is so strong....and just runs wild. It's hard to imagine him any other way. I told him that he was going to get to go to a special camp this summer up in the mountains. (The MD camp.) He said "Will there be girls there?" Thinking he would be disapointed, I said "No, I'm sorry, no girls." He said "Yay! I hate girls!" Haha. :lol: |
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Subject :same deletions..
2009-02-16 21:39:02
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| chetankathalay |
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Hey cmorz,
I have the same deletions as your son. I am 37 now I started experiencing problems at age 12. At age of about 16 I started excercising that included upto 10km daily cycling, yoga, pushups and chest-expander.
Since deletions are in frame, excersing really helps. Doctors had advised me against it, but since I was feeling good i continued. Now I am OK. Little problem running and climbing stairs.
My suggestion will be to let your son excercise a lot. |
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