"As for skipping duplications, is it possible that, if and when, multi-exon skipping strategies are developed, duplication mutations MIGHT be amenable to skipping in order to get the mutation in-frame? What's the status of research into skipping…"
I am a 46 year old mother of two boys. I am the first known Duchenne carrier in my family.
About my family:
My husband Alex and I have been married for 15 years and lived in the UK for the first 6 of those. We moved to Southern CA in 2002. Alex runs a technology company. Our son Ross was born in 1996 and Christopher came along in 2001 and was diagnosed with DMD in January 2004.
Our hobbies are travel and swimming, the latter being much easier since moving into a home with a swimming pool three years ago.
Name(s) of child(ren)/individual(s) with Duchenne:
Glad you joined the CA group! How have you been since we last saw each other while staying at the same hotel in Maui? What a small world! I enjoyed the pictures of your handsome boys! It seems like Christopher is doing well under the circumstances. Take care, Beth
Sorry you had to find us but welcome anyway. My husband, myself and our 2 sons (1 with dmd) were in Washington last Feb too. Paul, my husband attended the meetings while I took the boys around DC and we may have met. Please give consideration to joining the Cal families group - all in this "golden state" need to connect and share information.