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Older boys with deletions 48 to 50

I would like to start this discussion because it is so amazing to see the similarities in boys with similar deletions. A few of us moms have been chatting and so far, all our young men have a weight problem, have behaviour and mood problems, if i can be more explicit since young have seen the world differently to most, my son is highly intellengent, but yet seems to lack logic. Eg he will talk to adults easy and captivate them for hours with his broad knowledge, but has constantly battled with basic things like times, things being clean, things in his room being dust free, his clothes being perfect, his hair being in place, his feet straight on his footplates to name only a few. He has no friends as he has never been understood. He battles with learning but can recite conversations you had months ago about amazing things. He is a monster with his moods but gives us more laughs than i can ever wish for. He was in his chair around 8, he has always battled with weight which sets the mood for all of our lives. he is on heart medication which now has made his heart function normally, and he is on a bipap at night which has hugely improved his quality of his days. He has a good straight spine and really seems so well all round. My hope for this discussion is to find families like mine because so far everyone with boys with this deletion is over the age of 20 which then gives me true hope for the future.
Kind regards
Maxine Strydom
South Africa

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Permalink Reply by Bains on July 9, 2008 at 10:20am

I was wondering about this as well, meaning would similar deletions have similar symptoms in most cases. As far as my son is concerned, he has deletion of exon 12 and I am hoping to connect with families with this deletion.

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Permalink Reply by MicahsDaddy on July 9, 2008 at 1:57pm

I have read that twins (which would have the exact same mutation) can have different symptoms. Also, the progression of the disorder can be different.

That's one of the problems with DMD...something may benefit one kid, but not the other.

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Permalink Reply by Ofelia Marin on July 9, 2008 at 3:33pm

That is correct. Brothers with the same mutation progress totally different. One might walk until he is 8-9, the other until 14.

That is why it is hard to predict if/how a treatment such as exon skipping could work given the individual differences. We will only know when the clinical trails are completed.

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Permalink Reply by R. Gardiner on July 10, 2008 at 11:28pm

Andy has this 48-50 deletion. He is 4 and a half years old and weighs 34 pounds. We have noticed he is very particular about certain things. If he gets the slightest spill on his shirt or pants he has to change them immediately. He is very set in his routine and likes to save and collect things. He is also always quite concerned about having his hands and faced wiped after every meal, snack or treat even when it is not necessary. He has an amazing memory and we think he is extremely intelligent but we do notice that he repeats himself quite often. One thing I would be interested in knowing are the ages that other boys with this same deletion went into their chairs.

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Permalink Reply by maxine Strydom on July 11, 2008 at 4:07am

HI Rick, it is so funny to hear these common traits, it also seems to be in alot of boys regardless of deletions there funny little behaviour patterns. Collecting things is my sons talent. Even at nearly seventeen he loves pamphlets from shows. newspapers, things and stuff. If they are creased or not in perfect condition you might aswell throw them in the bin, this drives him nuts. He also buys games and things and never opens them for the first week or so. He also loves new clothes but hates having them washed because they smell knew and that is the way he wants them to stay. So funny. As far as going in a chair. My son was off his feet at 8, then i met up with parents from the conference and their kids were still walking at 13 and 14 but they were all on steroids and being in south africa i was not offered this. After alot of debating we moved to England and they put him in braces and he walked with his braces right untill 15. This was so brilliant as i believe this is one of the reasons he has a perfectly straight spine. ( I am back in S.A) Today with this amazing place we can go to, Parent project, the boys are breaking all the normal boundries, they walk for ages, they have education material to help teach the boys differently, and heart and lung management that has been a life saver for me. I have come to the states for the last 8 years and this year i will be there too. It is the doctors that give you facts,. but the parents you meet every year who are doing this and that and from there you pick up ideas, check it out and apply it to your sons life and watch him break all boundries. every single year i fly 23 hours for the weekend in the states and i walk away with a new idea and solution to my sons life. He today is nearly 17, is doing fantastic because of Parent project and my usa friends and of course God,