We are a traveling family. We lived in Granada, Nicaragua and loved it, but returned stateside so that our son could be a participant in the Sarepta Eteplirsen drug trial. He was on trial for the past two years, but in only on extension now - since approval - waiting to hear if our insurance will approve the drug for him commercially. Liam is 17 on 11/22 and is completely mobile, just got his driver's license and an honor student looking forward to college. Do I believe that Eteplirsen has helped him in some way? Not sure and really no way to tell since he is an outlier in the scope of this disease. But we are not interested in stopping at present as Liam's stamina seems quite good.
About my family:
We have one child, Liam, 17 who was diagnosed with Duchenne MD in June of 2008. My hubby, Matthew is a PE certified engineer. I am a writer/editor.
We have a cat and We love to travel.
Name(s) of child(ren)/individual(s) with Duchenne:
hi noreen, maanav was diagnosed last month so we are a wreck right now. He did have trouble climbing stairs and is a poor runner, thats why the ped referred the the neuro and hence the diagnosis. We will likely see Dr Wong in the next couple of months and most likely start on deflazacort/supplements soon after. We are a naturally worrying kind so we are restricting his climbing activities even though he can do some (based on the PPMD guidelines). Do you see Dr Wong or someone else? Why do you think exon skipping will be helpful to Liam? I thought skipping restored the out-of-frame kids to become in-frame. I am a chemical engineer and my wife Richa is a physician. My email is firstname.lastname@example.org. Please email back. Thanks.
hi...my 7 yr old son was diagnosed with duchenne..he has deletions of 6-29...which is in-frame...can you tell me more about liam? what was his deletion? when did he start on steriods (deflazacort)?...did you do a biopsy and what did it show?...thanks
Tanner's was seen by 3 Dx's here and the emergency room before a Dx said OK take him to a specialty hospital. She thought he might need something with his hip. He had no other symtoms except he was slower. I have 6 kids and he is our youngest. He is smart and funny just walk slower. He made all the milestones right when he should, never thinking DMD. He has a Becker deletion w/ a Duchenne progression. 3-36 in-frame. So when I freaked on the phone the Dx said there is a man alive missing half of the ladder he was 79yrs old. I just had him to Children of Philadelphia and they think he might be the intermediate. He still walks well without falling ,he doesn't have the calf muscles, he goes up stairs sometimes without a rail and he gets up off the floor like a runner about to start a race. He has been on deflazacort for about a year now and is doing well. This killed me and I probably still wouldn't know had I not changed to another doctor. The Dx's were just telling me that there is going to be a trial for gene therapy in the US and they would put Tanner in. So I am going to have the biopsy. He might be producing a bit of dystrophin so something about the Utrophin mixing with it. I feel like we are in a science fiction movie but its real life. We are going to the confrence in June are you? Your son is adorable. He looks like he is doing great! Thank God
Wow. It is really amazing to hear some of the things that you have told me. Although each child is different, and god willing your child just gets stronger, the Deflazacort seems to be the best route. I have looked at alot of studies and is amazed by its results. I had actually been against steroids, as I don't want to hurt my child with the intention of helping him..ya know. But talking to other families and seeing the results, I think it is the best option. Matthew is doing good now, and I will do all I can to keep it that way. As you say, this is a horrid experience and a terrible thing to endure, but it is nice to have a little optimism. I will talk with you soon..thanks again..Mark
Hi..sorry it took so long to respond. Matthew has an X-linked mutation. (1 bp deletion of A). The late diagnosis is a blessing, and then again it isn't. Matthew has always struggled a bit, but I had no idea that he had any kind of dystrophy. For the most part however, he is a very normal, fun loving kid. It is great to hear about your son doing so well. Have you put him on any type of steroid? I have weighed all the information and decided to try Deflazacort. It should be here in the next week. I talked to a few families and based my decision on their experience. Hope to talk with you again..and thanks for the encouragement. Mark