Does anyone else have deletions of 51-53?

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My son has a deletion of Exon 52. Just left a message at Childrens to double check if that is the only deletion but, I think so.

Is he a spontaneous genetic mutation?  I kind of wonder if the two are tied together in some way (Connor is spontaneous--none of my other kids have DMD).

Yes, I was tested and am not a carrier. They said that there was a mutation of his dystrophyn gene 3 days after conception. I have two younger boys and they do not have DMD or any other muscle disease. Do you or your other kids have any health problems; specifically, neurological problems? Has DMD been in your family in other generations?

I'm not a carrier and my other kids seem fine (no neurological problems) but Connor is developmentally delayed and we have behavior problems with him that are rubbing off on the others.  Connor is the second oldest (5.5, 4, 2, 11 months).  No one in my family has it either so when Connor was diagnosed last year it was the first time we heard of Duchenne.  Is that how/when it happens?  3 days after conception . . . that's even before a positive pregnancy test.

I am so sorry to hear of his diagnosis. Realizing that you just found out a year ago hit a tender spot in my heart.

When I found out about my sons disease I was one of the "angry moms" at the E.R. I took him in thinking he had a kidney infection but they came back with the news and I shot off my rocker. I said, "you mean like JERRY'S KIDS???" I had done fundraising for Jerry's Kids when I was young so I knew about M.D. but it had never been in my family and I certainly knew nothing about it except that they end up in wheelchairs. When I question how the HECK they could possibly know that "it" happened 3 days after conception I was told that "that is when the dystrophyn gene is developed." That made sense to me.

My son is going to be 20 in May. I learned of his disease when he was 4. I will never forget the intense confusion, sadness, fear and every other emotion that gets triggered from learning about something as devastating as this. My heart goes out to you and your family. 16 years later, the emotions have changed a little. There isn't so much confusion. I have accepted their explanation which removes a little confusion but learning to cope and continue LIVING are important factors. I was 19 when I had my son. Now he has been with me for more than half my life. It has been an emotional rollercoaster but one that I would not choose to miss out on. My son had behavioral problems when he was younger, He was almost suspended in every grade from preschool through 3rd grade. At the beginning of 4th grade I told him that if he could go the ENTIRE year without an incident report, we would go to Disneyland that next summer. He did it!!! It wasn't easy and the school was working with us on him reaching that goal but, he did it. From there I was always told how delightful and funny he was/is. I think these kids can FEEL that something isn't right in their bodies but don't know how to cope, so they act out. I truly believe that was the case with my son as I remember him telling me "moomy, something doesn't feel right in my body" and that was before the diagnosis. After the diagnosis but before he knew about it he told me at age 5 "mommy, can you put blue roses on that box they are going to put me in" (we had never been to a funeral, he must have seen this on TV). At first I didn't know what he was talking about but as he explained the "box" I had to choke back my tears, pull over (as I had been driving) and asked him, "why are you thinking about that box?" he replied, "because I feel my body dying inside."

I don't know if that helps with any insight for your guy but something to kind of pay attention to. I am amazed at how in tune my son is to his body. He told me there was something wrong with him before the doctors or I ever knew. That could certainly cause these guys to act out.

 
 
Kira Mullaly said:

I'm not a carrier and my other kids seem fine (no neurological problems) but Connor is developmentally delayed and we have behavior problems with him that are rubbing off on the others.  Connor is the second oldest (5.5, 4, 2, 11 months).  No one in my family has it either so when Connor was diagnosed last year it was the first time we heard of Duchenne.  Is that how/when it happens?  3 days after conception . . . that's even before a positive pregnancy test.

Wow Teri!  You certainly said it!  All that emotion (and more) is certainly very prevalent for me especially since Connor just had his 4th birthday.  I think Connor knows something isn't right with his body but he can't communicate very well.  We've only recently been able to really have min-conversations with him.  We are still (and probably forever) trying to figure out what works for him behavior-wise.  Honestly I'm just exhausted and overwhelmed.  And your story about the flowers and "the box" . . .chilling!  I am not looking forward to the time when he knows.  I don't even know how to deal with it (and am not dealing very well these days) so I can't imagine how hard it will be for him.  Thanks for your reply!

You are welcome. Best of luck to you. I am glad you are tapped into this site so that some of your questions can be answered and if nothing else, support. Please contact me anytime if you need to talk, be angry, vent, feel hopeless....it is all very familiar to me and I would be happy to be a support to you if you would allow that.

PS....The first step I took to prepare for him learning was: as we were out and about I started pointing out wheelchairs. I would say "WHOA, look at that guy, he can go fast!" or "that is a cool wheelchair, don't you think?" Then I'd follow it up with, "I am so glad he/she has that wheelchair so that he/she can get around." So my first step, essentially, was getting him familiar with wheelchairs and that not only are they acceptable but COOL! I am not going to lie, it would hurt on the inside but I feel that it made for an easier transition when the time came. I never told him that this disease would cause him to be in a wheelchair. I made it more of an option, something he had a "choice" about, when the time came.

 

All my best, Teri

You are so sweet Teri!  Thank you!  The Duchenne community has been very supportive!  Especially when I've certainly needed a virtual shoulder to cry on.  :)  I'll certainly use that tip for Connor too! Thanks again!

hi my son has deletion 50- 52 could any one help please share cpk levels , & use of homeopathy ib Duchenne

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