I have a four year old grandson with duchenne. I am having a fundraiser for duchenne md. on April 29, 2011 at the Miami Sunset Elk's Lodge. We will have a band, food, silent auction and a raffle. Please call me if you would like to join us. Harriet Meermann 305-554-5744
I saw your post on Regina's page. I was wondering what you thought about the BMD conference. I did not go. I did not know of it until the week before. My son is 4 and was diagnosed a year ago. He has a deletion of 45-49 in frame. He had a biopsy done in May and in July we go tthe results. He produces over 20% dystrophin. I would really like to hear about the conference. When you have a chance, fill me in.
Hi! Thanks for the info. I was not in Boston, as Jordan is a DMD, but I did attend the PPMD conference last year in Philly, and got a ton of good information. I am so glad that your little guy has no symptoms right now. My son has now has obvious problems with steps and riding his bike uphill, but otherwise gets around normally. He has been on steroids for 9 mths, but I didn't see any difference. The drs. said that he was doing so well b/f hand that the steroids might just help him maintain, not improve. I was disappointed, b/c I was hoping for improvement with the stairs, in which case I'd really be able to maintain my denial that any of this was happening!
PS-- we just got back from a month in Jupiter-- it was beautiful down there!
Hi Jessica-- I am sorry about your son's diagnosis! My son was diagnosed last june with a deletion of 8-11, which drs in Philly are saying may be mild, but is still out of frame. Do you mind my asking how your son was diagnosed so early? My son always met all his milestones, so wasn't diagnosed until I asked about his toe walking after he was 6.
Good luck to you with everything. I felt blessed that my son wasn't diagnosed until later, as we had a perfectly normal toddlerhod. I hope your son's Becker's is so mild that you are able to enjoy these years as I did!
So sorry I just logged on for the first time in months! My son was diagnosed at 16 months, which was 4 years ago this coming Monday. He was diagnosed because he was very delayed in his gross motor development. They did the blood test, and his blood was sent to Utah. They found the deletion of Exon 19, so he was diagnosed with Duchenne. He's 5 now, and doing well. We've had him on deflazacort for almost 3 years, and I really thing it's helping a lot.
My little guy, Ryan, was diagnosed with Duchenne in May. He has a frameshift mutation of exon 38. He will be three on August 30th. We are in St. Augustine, FL. I haven't seen many people from Florida. I'm glad you're here - but wish it was under different circumstances! Welcome to PPMD. It is a great support!!
Thank you. We are staying positive and thanking everyday that Evan is healthy. How was it determined that your son has becker. For us it was a genetic test and all of the doctors we have met with, geneticists, and 4 neurologists feel that it is becker and we don't need to do the biopsy.