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Duplications

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Latest Activity: Nov 20

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Comment by kathy mcdonald on September 19, 2011 at 11:51am
Our son walked until age 8 and had no language or behavior issues. In fact was inducted into NHS June 2009.
Comment by Heather Meermann on September 19, 2011 at 11:33am
Our son Grant was born June 2006. He has a duplication of exons 5-7. Of course he is still doing very well, because he is only 5 years (can walk and run short distances). He does has language problems and a deficit in short-term memory, but is so far enjoying school and doing okay with extra support.
Comment by Donna Cicardo on September 19, 2011 at 10:26am

Our son has duplication of exon 2.  also, can those who post, say whether their son is still walking and how are they doing.  alex is still walking, at times can be slow but he keeps trying.

 

Comment by Katherine Blake on September 19, 2011 at 10:20am

Our son has his duplication at 49-56 and is out of frame.  He was born in Sep

2003.  He is quite ambulatory, but does have sensory processing and behavioral issues as well as poor short term memory and communication delays.  

Comment by kathy mcdonald on September 19, 2011 at 10:09am

Our son had duplication at exons 2 through 6. He was born August 1992.

 

Comment by Felix Bettelheim on September 19, 2011 at 9:46am
Our son has a duplication of exons 2 through 5. He was born in August 2002 and is doing very well.
Comment by Char Burke on September 17, 2011 at 12:04pm

Hi Guys and Moms - I am wondering if all you duplications would post your exon duplication on this site.  I am just thinking it would be useful to all parents who wanted to talk with others with a similar mutation.  I realize that often times that exact exons aren't always the same.  But, still, it would be interesting. 

Thanks!  Char Burke

Comment by Lisa Jones on August 11, 2011 at 9:47pm

We did the punch biopsy a few years ago in St. Louis.

 

Comment by Char Burke on June 12, 2011 at 12:14pm
For all you duplication families - you could ask your neurologist to do a punch skin biopsy and have it sent to Steve Wilton, who is the pioneer of exon skipping.  He  studies the the exons in his lab and formulates how to skip the mutation.  Granted, it is way more difficult to skip duplications because of the way that the chemistry responds - you can skip one but the other duplicated one may not respond the same way....this is a very non technical explanation.  Anyway, we still went ahead and did the punch biopsy.  It's pretty easy - they numb the site (upper arm - deltoid) with lidicane creme, then takes an instrument like a tire gage and takes a small punch of skin cells.  A bandaid is used to cover the area.  Then the biopsy is frozen and sent to University of Western Australia to Wilton's Lab.  I am not sure how long it takes....but I thought it was worth the long shot...Bets not doing anything....Gotta turn over all the rocks if you know what I mean....Char Burke
Comment by Char Burke on June 12, 2011 at 12:04pm

Hi Pat, Still hoping you will answer the 5-24 post about personalized medicine proposal that you state PPMD is involved - for rare mutations.  I am sure that other duplication families would surely like to hear about this especially since the ACE-031 was pulled and with the exon skipping trials moving forward.  It would be like giving us some hope - and we could sure use some!

I did read a good article in the Wall Street Journal about cancer therapies and how the FDA is going to recognize personalized medicine there.  Apparently cancer treatment will respond better with gene therapy vs. just giving everyone the same treatment. 

Thank you again for responding to the post.

Best,

Char Burke

 

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