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Exon Deletion 3-7

Connect with other families with exon deletion 3-7.

Website: http://www.frontstep.us/Delong/mda.htm
Location: Derry, New Hampshire (You are Welcome to Visit)
Members: 28
Latest Activity: Sep 13

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Daughters of Carrier Moms

Started by Colin McKenzie. Last reply by Colin McKenzie Jun 13, 2011. 2 Replies

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Comment by Wendy Bertellotti on August 4, 2010 at 10:13am
I'll look into coming then:) Wendy
Comment by Eileen DeLong on August 4, 2010 at 9:50am
Hi Wendy,
We are going to be in Cincy Aug 15th to Aug 19th. Would love to see you.
Comment by Wendy Bertellotti on August 3, 2010 at 11:11am
Hi all,
I'm planning on taking Jake out for his biopsy in the next month or so. Will anybody be heading out there soon. I'd love to coordinate our visits. Best,
Wendy Bertellotti
Comment by Alejandra Lagffer on August 2, 2010 at 10:21pm
hello my son has also deleted th exon 3 and the exon 46 through 50 I would like to know if some one knows and can tell me if the exon skiping is also for deletion on exon 3 please thank you
Comment by Kelly Bruhl on July 7, 2010 at 5:12pm
The biopsy wasn't bad at all. Cade wad the first, as the protocol just got approved this afternoon. They put Emla cream on 2 hours prior and Cade didn't even know when she had actually taken the biopsy. It was very small. Also, Dr. Wong will be the one actually taking the biopsy. I offered my cells too, but they weren't interested. :0)
Comment by Wendy Bertellotti on July 7, 2010 at 12:03pm
Would be great if we could all meet in Ohio at some point!
Comment by Eileen DeLong on July 7, 2010 at 10:22am
Oh it is just a skin biopsy so it is not very invasive.
And yes I was told that it should be exon 8 being skipped for our group so your boy should also be in this group Tagni. :)
Comment by Eileen DeLong on July 7, 2010 at 10:19am
I spoke with Dr.Wong's study coordinator a couple of weeks back and she told me all of Dr.Wong's boys will have the biopsy done as they she her and be frozen. When they have around 15 they will be sent to Dr.Wilton. They will just keep on gathering them and sending. This is the cheapest and easiest way. We are seeing Dr.Wong in Aug and I know of at least one other 3-7 boy going in Aug so Steve should have a few 3-7s to look at shortly. I know he has a particular interest in this group so I am keeping my fingers crossed something comes out of this. They are doing another study of just the 3-7 clinical presentation also. So more good reasons to take the trip to see Dr.Wong :)
Comment by Wendy Bertellotti on July 6, 2010 at 9:48pm
Dr. Wong's intention, as I understood it, is to have all her patients biopsied eventually, so that a comprehensive bank of samples can be created at her clinic for the good of all the boys. This is just the first baby step. She plans to move on to other groups in the future.
Comment by Tagni McRae on July 6, 2010 at 5:33pm
So is this only for boys with the deletion of 3-7? My son is missing 6 and 7 and Dr. Irina didn't mention the research at our visit in June. Disappointing, but hopefully if skipping 8 is studied for this group, I hope it may benefit my son eventually.
 

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