"Was anyone at the PPMD meeting where Dr. Eric Hoffman spoke???"
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irishgirl
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- Aldie, VA
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Trials for DMD
Started Feb 10 0 Replies 0 Favorites
GSK trial of exon 51 skipping on Ambulatory Boys
Started this discussion. Last reply by Wyatt's Mommy, Melissa Aug 8, 2011. 60 Replies 0 Favorites
GSK trial
Started this discussion. Last reply by David Jun 22, 2010. 4 Replies 0 Favorites
irishgirl's Page
Latest Activity
irishgirl posted a discussionTrials for DMD
Anyone thinking about entering the GSK US trial MUST read their consent forms with a fine toothed comb! Check your current insurance plans to see if they cover illnesses incurred while your child was in a drug trial - most WILL NOT! And keep in mind that a promise of trial extension really carries no weight and it is dependent on so many variables. One last thing, we need kids to enroll in these trials to bring some sort of helpful drug to fruition! There are NO promises in DMD!See More
irishgirl replied to irishgirl's discussion GSK trial of exon 51 skipping on Ambulatory Boys"I am CERTAINLY NOT CRITICIZING AVI - I deem them as the only current hope of proceeding with exon 51 skipping in a way that can actually help my child and others like him. Posted results do not sugar coat and AVI's drug is far superior to…"
cheryl cliff replied to irishgirl's discussion GSK trial of exon 51 skipping on Ambulatory Boys"Music to my ears! Wish the waiting was over and skipping was available for everyone. "
arnold replied to irishgirl's discussion GSK trial of exon 51 skipping on Ambulatory Boys"Before you criticize avii listen to yesterdays call
I get the feeling they are busting there balls to get the trials started"
Profile Information
- About me:
- I have my own business, Pebbledash TIle & Style which allows me to be home with Liam, the best kid in the world.
- About my family:
- We have one child, Liam, 12.3 who was diagnosed with Duchenne MD. My hubby, Matthew is a PE certified engineer.
We have three cats and a dog named Duckie. We love to travel.
- Name(s) of child(ren)/individual(s) with Duchenne:
- Liam
- Age(s) of child(ren)/individual(s) with Duchenne:
- 13-18
- City and State:
- Baltimore, Maryland
- Country:
- usa
irishgirl's Photos
irishgirl's Videos
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Liam on Stairs
Added by irishgirl 2 Comments 0 Favorites
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Crazy Kid
Added by irishgirl 2 Comments 0 Favorites
Comment Wall (71 comments)
- At 10:21am on February 24, 2011, amit gupta said…
- 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 richagupta@yahoo.com. Please email back. Thanks.
- At 12:09am on February 24, 2011, amit gupta said…
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
-amit
- At 10:58pm on June 22, 2010,
Wyatt's Mommy, Melissa said… - Noreen, how are you? We haven't spoken in a while. Look like Liam continues to do well. I love all the amazing pictures you post. Take care.
Melissa
- At 1:19pm on June 6, 2010,
Dana Edwards said… - Hi Noreen,
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
- At 4:00pm on April 19, 2010,
Mark Perrotte said…
- As far as the pool. Yes, we have a pool and he loves it. Just needs to warm up a little bit...:)
- At 3:59pm on April 19, 2010,
- 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
- At 9:23am on April 19, 2010,
- 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
- At 1:41am on March 7, 2010, Wyatt's Mommy, Melissa said…
- Noreen, the winter pictures are great.
Melissa
- At 9:52am on December 9, 2009,
Ofelia Marin said… - Hi Noreen. I just sent you a message. Ofelia
- At 11:14am on December 8, 2009,
Michelle Gonzales said… - Noreen,
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!!
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Events
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Paint for Peyton to end Duchenne
June 8, 2012 from 6:30pm to 7:30pm – Spirited Art
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