Smoosh Duchenne.

Hello Rebecca,

I just got your post on my profile. I am still figuring out this site, and can't figure out how to "reply," so thought I would just post here. My son, Cory, is 11.

Dave

Hi Rebecca, we are planning to attend the Bbq. It would be great to meet you all. Thanks for the warm invitation.

Thank you so much for reaching out to me. Our nephew, who is affected by Duchenne, lives back in PA. We are looking to get more involved out in the Bay Area. We live in San Francisco.

Rebecca - I know a family with a son's deletion as large as your son's but it's a duplication. Check out GMTrust.org - you could email her. They live in England. I think they go to a famous Dr. Dubowitz at the Imperial College - very nice family. It's very hard not to think that the size of the mutation isn't related to the severity. I guess it's like an oxymoran....Anyway, I'd be interested in hearing more about your son and how he is doing. I forgot to mention - the boy that has the really big duplication - he is not on steroids, is walking and doing extraordinary well and is 8 or 9 years old. Now - that's amazing.....Char Burke

So happy to have you as a friend!! We live just south of you...well...ok...really far south. -cheryl

Hello Rebecca:

I am sorry it took so long to get back to you. This is actually the first time I have really looked at the site closely. My son is 8 -1/2 and we found out three years ago that he has DMD. A very sad day for us all since he is deleted. We attend the MDA clinic at UCSF with Dr. Jonathan Strober - he is a GREAT doctor. We should try and connect sometime to compare notes and develop a friendship - I think that would be very good for our boys and us. Let me know sometime if you are still interested. Thank you, Michele Have a wonderful Thanksgiving.

Please join our San Francisco Bay Area Families group.

Greg

Hello Rebecca,
Thank you for sharing your story about the boys. This is truly a heartbreaking disease, but thank goodness for PPMD, they are awesome. I had our grandson Michael this weekend who suffers from DMD. He is seven and one of the lucky boys in the PTC 124 study. I think it's time for a part-time scooter just when we want to do something, go somewhere, like basketball games, sporting events, amusement park. He just can't walk very far or well for that matter and he has lost his strength completely to get up stairs.

If anyone would like to share information about the PTC 124 study, I would be more than happy to open discussions about this. We are in Davis, CA.

God bless these young children and let's hope these medications start to work and make a difference.

Fondly,
Cathie Bullis

Rebecca,
Thank you for your note. I am sorry about your boys. How are things going so far? I am so glad for PPMD.
I have a question if you don't mind. My 3 year old has gotten too big for the umbrella stroller. We are trying to find a sturdy strong one. Do you have any suggestions?
Thank you, and have a good day.
Ruth