Outliers - Intermediate between Duchenne & Becker MD

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Outliers - Intermediate between Duchenne & Becker MD

The reading frame rule holds true 90% of the time. There remains those 10% that does not fit dmd/bmd phenotype. There is a 3rd form that may be considered as an intermediate between Duchenne and Becker MD(mild DMD or severe BMD.

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Outliers?

Started by Simone & Elias. Last reply by KarstensMom Dec 31, 2017. 16 Replies

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Started by Eliane Khoury. Last reply by Keith Van Houten Mar 25, 2009. 1 Reply

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Comment by Rachel Poysky on February 26, 2010 at 3:45pm
Kathy, I may be wrong, but if he is under special ed OHI he should be able to have accomodations for missing PE at least on the days when they run. That could be one of his accomodations. Just keep pursuing it...our school is very helpful but what we had to go through was really just educating them about the disease and the fact that he COULD do some things didn't mean he SHOULD
Comment by Kathy on February 26, 2010 at 3:22pm
Rachel, thanks for the advice, I will contact Cinn Children's PT and see if they can send me that PE handout. We asked about him going to Art or Music and they told us he had to do some form of PE. I read on the Houston MDA site about a boy who was able to get his school to let him use WII sports instead of PE and he could pick a buddy to do it with him, and it was considered physical activity. I know that would probably have to be monitored, I'm going to tell them that If need be I will come monitor it or I will come up and do his stretches, I would love for him to do the stretches at PE. That would give us more time at home for other things.I'm going to conference with the PE teacher soon and was looking to have some ideas to present to her. Thanks

Regina, our school will not provide a PT, they really dismissed that idea, said she was to busy with other duties. Thanks for your input though.
Comment by Rachel Poysky on February 26, 2010 at 1:32pm
Kathy, We fought long and hard over the PE question. We now have a pretty good solution. On the days when they run, my son goes to art or music instead. It is a repeat of what he has done, but he really likes art. On the other PE days he stretches for about 20 minutes and then goes to PE for 30 minutes. He does the stretching on his own with an aide watching him. He is seven. The PT at Cincinnati Children's has a great handout for PE teachers
Comment by Regina on February 26, 2010 at 1:19pm
Roxanne, that's a really good point about the adaptive team. I'm going to talk it over with my husband.

Kathy-- that's too funny about the little foot award. Jordan came home with one of them, too! It was for walking club though, and, although he was walking laps, it's not compulsory. Jordan can choose how far, and if at all, he wants to do it. In gym, the teacher tells Jordan to stop whenever he wants. However, he usually doesn't. I do have to tell her that she is going to have to force him to take it easy.
I hope your school comes up with a better gym solution for you than special ed. I think at my school as long as he's participating (even if just counting the laps), they count that. Also, it was suggested to me that Jordan could have his regular PT through the school district during gym, instead of gym. Maybe that would work for you.
Comment by Kathy on February 26, 2010 at 1:08pm
Hi all, I was wondering what everyone is doing for Phys Ed in elementary school. I found out last week that they had Jonluke doing running club, they thought it was ok because they modified it to where he could walk 3 laps instead of run the 8 laps. I didn't know until he came home with a little foot that was the award for completing the course. I thought he was counting the laps for the coaches during running club. That same day he fell down when he got off the bus. I noticed he was falling on certain days and put it together they were the days he had Phys Ed. I did have an ARD meeting the other day and mentioned that walking laps of any kind was not good. They don't seem to know what to do with him now on day's they have running club. The Diagnostian said it was a law that they had to have some type of PE.. I was wondering what everyone else was doing. They did say that he could go with the Special Ed kids most are mentally challenged, I really think he would prefer being with his peers, but the peer pressure to be like them is making him push himself a little harder then he would. Any advice would be appreicated.
Comment by Regina on February 25, 2010 at 11:05pm
sorry-- computer glich
to continnue. . . worked it out so kids could play on a regular team w/some accomodation for running-- designated runner maybe?
Comment by Regina on February 25, 2010 at 11:02pm
Quick question-- do any of your boys still play sports? Jordan played t-ball last sping at the Y. It was totally non-competitive and fine for him. However, he is 8 this year, and I don't think he runs fast enough to play on a regular team, but the adative team has kids that are so much more disabled than Jordan at this point-- I'm afraid it will scare him to make him think that could be him someday. Have any of you dealt with this, or tried to work it out so the kids could play on a re
Comment by Susan Rathfelder on January 12, 2010 at 2:04pm
My son Jonathan is 18 (will be 19 in March) and we have no idea what his mutation is. He does still walk some around the house, more and more his is needing help, He has very little cardiac and pulmonary involvement at this point. There have been some significant changes in his upper body strength in the past year. He just got his first full power chair, he has been using a manual/power assist chair since he was 14.
Comment by Lisa Jones on December 16, 2009 at 12:23am
Thanks for getting the clarification for us Keith.
Comment by Keith Van Houten on December 15, 2009 at 10:12pm
I followed up with Annemeike on the discussion at the last web conference about regions where exon skipping wouldn't work. The short answer is that even if you have mutations early in the gene (2-8), as long as 35-44 are intact, exon skipping would still apply. On the tail end of the gene, any mutations between 64 - 70 mean exon skipping will not help.
 

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