Latest Activity: Jun 24, 2020
Started by Dalibor Randjelovic. Last reply by Sai Chand. Gurujala Nov 7, 2017.
Started by Char Burke. Last reply by Limca Jhaveri Oct 18, 2015.
Started by Char Burke. Last reply by Nid Hadidi Dec 26, 2012.
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.
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.
Our son had duplication at exons 2 through 6. He was born August 1992.
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
We did the punch biopsy a few years ago in St. Louis.
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.
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