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
Liam is beautiful!! and you and Matthew are totally blessed... but I'm sure you know that. For some reason, we were blessed with Nicolas. They say that God doesn't give you anything you can't handle. I don't believe that. This is sooooo very hard to handle. But we do our best!! Nicolas is our angel, and he is totally spoiled!!! We of course, also make sure that he understands his disease and what he can and cannot tolerate or handle himself. It's a constant struggle, but so is life... right? Anyway, I just wanted to touch base with you and also find out about something you wrote in a recent string. You said that Liam is still totally mobile at 10!!! That is awesome!! Can you let me know if there's anything you give credit to for his ability to still be mobile? Also, in my recent string about Exon Skipping 51 - I did just hear back from Dr. Wong that they are waiting to start their trials in July, August of next year. Right now, I'm at the end of my thread and ready for any trials to start helping Nicolas. If he's accepted into Dr. Mendell's trial which begins in March, then I'm there. I know the difference between phase 1 and 3 - but I need something for my Klaus very soon. I keep saying first come first serve and totally mean it. No matter what, if it can help him WONDERFUL!! if not, then hopefully future generations benefit from my Nicolas (Klaus is his nickname).... I hope all is good with you and your family!!
Hi Noreen, Ask Ana Vaish about the Prosensa/GSK trial. She just came back from Dr. Wong and has more info. There will be 12-13 sites in the US for the Prosensa/GSK trial in 2010 and it might be that Cincinnati is one of them (?).
What you posted about the AVI trial is exactly what I have thought. The UK trial was IV only and now they want to test sub-cutaneous as well. If sub-cut gives similar results it will be an easier delivery method. When I saw that MDA announcement I thought that is why AVI doesn't do Phase II/III directly in the US as Prosensa did...b/c they never tested sub-cut injctions, so they want to see how that works first... Prosensa always used sub-cutaneous injections, with good results looks like, so they go directly to the next Phase of the trial. The good thing I noticed now is that they do not request boys to stay the entire 12 weeks in Columbus as they first said. It looks like now they only need to be here 1-2 days/week, better than the entire week. I expect both trials to start around the same time or close, Prosensa said "early" 2010, AVI March 2010.
Two years from now, if everything continues to work fine with those trials, I see Prosensa/GSK close to approval (keep in mind that they have GSK and all their money behind them too!). Then AVI NEEDS to give the drug to the boys in the trial o/w they will leave and get a prescription to Prosensa's drug. Competition is a good thing! :)
Well, I think that they rally need to do something. Otherwise why would a boy stay in the trial for years when he can just get the Prosensa drug??? I assume that trial being Phase III will not take as long as AVI's since it looks like AVI's is Phase I/II. So what happens when that drug is approved. If AVI wastes time with their trial than the parents will take the kids out and get the Prosensa drug, right? Hmmm, I think AVI needs to speed up the process and get everything ready for FDA...
No word about functional improvement in the AVI trial so far...but Prosensa says "Clinical effects: after 5 weeks. (patient has not reached steady state) trends in functional improvement and drop in CK."
And the dose levels in the AVI trial were higher, the drop in CK levels was 50% even for the lowest dose...I expect them to see some improvement as well. Fingers crossed!!!
To me it makes a lot of sense to do the automatic enrollment b/c with both Prosensa/GSK and AVI trials in the SAME time they need to secure participants. Think about it, there aren't too many ambulatory boys satisfying ALL the proticol criteria and they need hundreds in Prosensa's trial (they enrolled ~165 in the PTC124 one!). I think it will be very hard to find so many boys for both trials...
Hi Noreen, I did not ask too much about the protocol b/c Robert is too young to participate but this was suggested to me. They did not know what will happen exactly at that point but this was how the PTC124 trial was conducted and people seem to think that it will happen like that for exon skipping too. You should email the contact person and ask...I wonder if they know the protocol at this point...they did not know it during our appt in September and our next appt will be February. And I think that in the UK trial the boys participating in this phase will be automatically enrolled in the next.
Oh, Noreen. I feel the same way... I just want him to be happy and I am so scared thinking that DMD will take that away from him! I am not sure how anyone can be happy in a wheelchair and on a ventilator. I do not want them to only prolong their lives, I want them to improve the quality too. I see Robert now running around and so, so happy that he can do all these things and it breaks my heart to think about the future! I am on Facebook and have friends several mothers if boys with DMD and a couple of young man with this. One of them, Ian (25 yrs old), tells us how he feels every day. He doesn't seem unhappy most of the time, but he does seem to suffer some days, his ventilator hurts, he has heart problems, he stays mostly at home... Not something I want our sons to experience. I really hope they do not get there so young!
Don't dwell too much on why Liam is doing so great, just be happy that he does! I would be.
I too feel confident that they will be able to treat DMD effectively one day...how soon I do not know. Will it be in time for our sons -- that's the million dollar question. I really hope so! I really hope that they will be able to have a family, a job, travel do all the things we are able to do!
Thanks for your message. Yes, I look at Robert all the time trying to find symptoms. It is like I look at him through a magnifying glass ALL the time... So far I cannot find much...he might be a little slower than other kids but I cannot see any other symptoms. I hope they get something to our kids sooner!!! What your brother said makes perfect sense. For example, for PTC124, the kids who participated in the first safety phase trial were automatically enrolled in the next efficacy phase for one year and now, after one year, they are given the highest dose of real drug until approval (if it gets approved). So as soon as a boys finishes the 12 month trial, he is given the real drug. I have not heard anything about Prosensa's trial. I also think that it would be good to be in a longer efficacy trial (like Prosensa's)...I am not even sure why AVI needs to start with a Safety Phase again (except that they want to test sub-cutaneous injections and IV, they used only IV in the UK), while Prosensa starts directly with Phase III here in US. Why can't AVI do the same? Both of them had a Safety phase in EU, why not start directly with Phase III here? I do think that for the boys enrolled in the March trial, they will be enrolled in the next Phase but Liam is so strong...not sure if he needs to participate in the Safety phase. They will need a large number of participants in the next phase. I am quite confident that they need to allow participation of each qualified boy in the efficacy phase. Question is WHEN that will take place. What if Prosensa/GSK get their drug close to approval by then?
Too many questions and no answers, sorry! We should learn more in the beginning of next year I think.
Thank you so much Noreen! I love how this sounds: "demonstrated that systemic delivery of this modified oligomer restored dystrophin levels to almost normal in both skeletal and cardiac muscles in a mouse model of DMD". We are getting there!
I love the new pictures with Liam! He is so handsome and looks great on the horse!