My son have deletions of 1 to 6. I was wondering whether there are other people who have sons with similar deletions so that I can hear from you. He just turned 13- is still walking and only use a wheelchair when we go to a shopping mall. His heart and lungs are still "normal" He is on prednisone and has been for last 15 months.

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Hi--
My son has deletions of 8-11. I was trying to find others with a similar deletion as well. Do you mind my asking when your son was diagnosed? My son is 6 1/2, and we need to decide when to start the steroids. He's only been diagnosed one month.

THanks,
Regina Reidenberg
Regina said:
Hi--
My son has deletions of 8-11. I was trying to find others with a similar deletion as well. Do you mind my asking when your son was diagnosed? My son is 6 1/2, and we need to decide when to start the steroids. He's only been diagnosed one month. THanks, Regina Reidenberg


Good Day Regina
My son (now 13) was diagnosed when he was 9 years old and I had quite a time to convince his doctor to put him on prednisone. Eventually I succeeded and he has been using a product called Pulmison (which has prednisone as active ingredient) for approximately 15 months. It has a further benefit that it helps the lungs as well.

From what I read on this and other websites it is important to start him as soon as possible. My son is still ambulant although he walks slowly and with his toes pointed inward and we only use a wheelchair when he goes to the shopping mall. I believe the fact that he is on prednisone has enabled him to walk longer.

I hope that it will answer your question and everything of the best for you and your family. The first couple of months after a diagnoses is probably the worst time but your strengh will increase.

Jan
Jan:
Your son was 9 when diagnosed? Mine is 8.5 and was just diagnosed. Does your son have Duchenne or Becker? How can they tell? What led you to discover this diagnosis? I'm so very sorry for asking so many questions, but we started our son on Prednisone and during the past month, have noticed no changes other than he is more hyper. Our son, during the past year, has gotten physically stronger not weaker. And that was prior to starting the Prednisone. We are switching to Deflazacort because it doesn't carry the weight gain side effect of Prednisone. This time last year, he could not get up on our climbing wall, but he can boulder the thing now. He doesn't toe walk, he doesn't fall down, he doesn't have trouble climbing stairs or getting up from the floor. I just don't understand how this can be. He, in fact, does have missing exons 48, 49 and 50. But how can they tell wether it's Becker or Duchenne? I know they are lumped together, but Becker has a much better/longer life.
Can you shed some light on this for me???
Noreen/Irishgirl

jan said:
Regina said:
Hi--
My son has deletions of 8-11. I was trying to find others with a similar deletion as well. Do you mind my asking when your son was diagnosed? My son is 6 1/2, and we need to decide when to start the steroids. He's only been diagnosed one month. THanks, Regina Reidenberg


Good Day Regina
My son (now 13) was diagnosed when he was 9 years old and I had quite a time to convince his doctor to put him on prednisone. Eventually I succeeded and he has been using a product called Pulmison (which has prednisone as active ingredient) for approximately 15 months. It has a further benefit that it helps the lungs as well.

From what I read on this and other websites it is important to start him as soon as possible. My son is still ambulant although he walks slowly and with his toes pointed inward and we only use a wheelchair when he goes to the shopping mall. I believe the fact that he is on prednisone has enabled him to walk longer.

I hope that it will answer your question and everything of the best for you and your family. The first couple of months after a diagnoses is probably the worst time but your strengh will increase.

Jan
Noreen

The only way is genetic testing, which it seem that was done. I am not too clued up on the technical details but certain deletions does not cause a complete lack of dystrophin and then results in it being Beckers but other deletions causes a complete lack of dystrophin which then results in Duchenne. It would also seem that even if it is duchenne there a a big variance as to the specific symptoms. I know of instances where 8/9 year old boys are permanently wheelchair bound and then I know that my son who is 13 is still walking, even if with difficulty. I would suggest that you e-mail Steve Wilton of the Australian Parent Project and get his view on the deletions in your sons case. Everything of the best for you and your son.

Jan


irishgirl said:
Jan:
Your son was 9 when diagnosed? Mine is 8.5 and was just diagnosed. Does your son have Duchenne or Becker? How can they tell? What led you to discover this diagnosis? I'm so very sorry for asking so many questions, but we started our son on Prednisone and during the past month, have noticed no changes other than he is more hyper. Our son, during the past year, has gotten physically stronger not weaker. And that was prior to starting the Prednisone. We are switching to Deflazacort because it doesn't carry the weight gain side effect of Prednisone. This time last year, he could not get up on our climbing wall, but he can boulder the thing now. He doesn't toe walk, he doesn't fall down, he doesn't have trouble climbing stairs or getting up from the floor. I just don't understand how this can be. He, in fact, does have missing exons 48, 49 and 50. But how can they tell wether it's Becker or Duchenne? I know they are lumped together, but Becker has a much better/longer life. Can you shed some light on this for me??? Noreen/Irishgirl

jan said:
Regina said:
Hi--
My son has deletions of 8-11. I was trying to find others with a similar deletion as well. Do you mind my asking when your son was diagnosed? My son is 6 1/2, and we need to decide when to start the steroids. He's only been diagnosed one month. THanks, Regina Reidenberg


Good Day Regina
My son (now 13) was diagnosed when he was 9 years old and I had quite a time to convince his doctor to put him on prednisone. Eventually I succeeded and he has been using a product called Pulmison (which has prednisone as active ingredient) for approximately 15 months. It has a further benefit that it helps the lungs as well.

From what I read on this and other websites it is important to start him as soon as possible. My son is still ambulant although he walks slowly and with his toes pointed inward and we only use a wheelchair when he goes to the shopping mall. I believe the fact that he is on prednisone has enabled him to walk longer.

I hope that it will answer your question and everything of the best for you and your family. The first couple of months after a diagnoses is probably the worst time but your strengh will increase.

Jan
The becker's or duchenne phenotype is usually picked based on whether the deletion is "in-frame" or "out of frame". Out of frame is DMD, in-frame is BMD. An out of frame deletion usually produces zero, or little, functional dystophin protein. In-frame produces a smaller amount of dystrophin, or a shortened, less effective dystrophin. This is the so-called "reading frame rule".

There are exceptions to the reading frame rule, though. One study I read said that 15% of cases may be exceptions to the rule.

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