I was just reading on Facebook that a parent was called about US Exon Skipping Trials.  While I am happy for that group of boys only (15%) - that will be helped with exon skipping, I feel pretty left out b/c it won't work for our son.  He has a duplication. 

I was at a research meeting last night and had the opportunity to ask one of the AVI Presidents why they can't do duplication.  Answer was basically, it's too hard.  I spoke to Steve Wilton, who sold the patent to AVI - he said that he could do it and I told him that.  AVI President said that duplications are hard to manipulate b/c they are complex.  It's really tough...

I was looking to Acceleron with the myostantin but heard that they want boys off steroids.  Wow - I think that's really unfair b/c any muscle that they lose, they won't regain it.  Anyway would like to heard from other duplication mutation DMDers. 

Thanks Char Burke

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Char, I just wanted to tell you that I am heartbroken for you and many other families...we were the ones contacted yesterday at 1:30pm from Dr. Mendell about the AVI Exon 51 Trial....as happy as we are about this, I don't understand why we were the only family contacted, my only guess is Trey quite possibly is the youngest of all of the boys, regardless as much as I should be jumping up and down, my heart is crushed because it's just not fair...I've been contacted by two other families one with the same deletion as Trey and one that needs the same exon but is not missing just the 52 and I'm so heartbroken that I've actually thought about dropping out and giving them my spot...why should I be special, my son afterall is one of the young ones here?.......I know we've fought, we've raised tons of money, gotten the Combined Federal Campaign involved, etc, etc...but it doesn't feel so great to feel so special right now...I know not even close to what you are going through, funny I'm one of the 'lucky families' and I feel like crap because this doesn't work for everyone and it hurts, bad.


Cori said:
Char, I just wanted to tell you that I am heartbroken for you and many other families...we were the ones contacted yesterday at 1:30pm from Dr. Mendell about the AVI Exon 51 Trial....as happy as we are about this, I don't understand why we were the only family contacted, my only guess is Trey quite possibly is the youngest of all of the boys, regardless as much as I should be jumping up and down, my heart is crushed because it's just not fair...I've been contacted by two other families one with the same deletion as Trey and one that needs the same exon but is not missing just the 52 and I'm so heartbroken that I've actually thought about dropping out and giving them my spot...why should I be special, my son afterall is one of the young ones here?.......I know we've fought, we've raised tons of money, gotten the Combined Federal Campaign involved, etc, etc...but it doesn't feel so great to feel so special right now...I know not even close to what you are going through, funny I'm one of the 'lucky families' and I feel like crap because this doesn't work for everyone and it hurts, bad.
 
Cori......My son is also up for this study.....Thanks for letting us know there is progress!!!! I'll be contacting the study people, but if they contacted you that's GREAT!!! We all want to be a part of some study,some hope for our boys,, but the cold, hard truth is the doctors have to choose the best candidates.....If that is your son instead of mine, then please do it for both our boys!!! My son is 11 and still walking....I'm hoping to keep it that way and was really down that AVI and Prosensa seemed stalled. Now I have a renewed hope!!!!!! Thank you to all who are participating in all studies!!!!! All our boys are greatful, not jealous, of your work!!!!!!!!!!!!! Karen
I feel the same way you do. My son also has a duplication. I doesn't seem like they have as much trials for them.
Karen - I don't think you understand what I my point of the post was.  I am not "jealous" of who is participating in the trial.  Nor am I jealous of the work that Cori has done.  Rather - I am upset, sad, grieving that our son has a duplication - that exon skipping won't help...nor PTC RX either nor is there anything out there for duplications right now.  I am happy for those that will be treated - including your son.  There is no jealousy here - it sadness b/c basically - duplications are complex and since there are not many who have them (I think it's about 10-20% of the DMD boys), then will it ever be enough return on equity for the pharmas to research them.  Basically it's all about the money and that hurts when it is my son's life that we are talking about.  Char Burke

Karen flor said:


Cori said:
Char, I just wanted to tell you that I am heartbroken for you and many other families...we were the ones contacted yesterday at 1:30pm from Dr. Mendell about the AVI Exon 51 Trial....as happy as we are about this, I don't understand why we were the only family contacted, my only guess is Trey quite possibly is the youngest of all of the boys, regardless as much as I should be jumping up and down, my heart is crushed because it's just not fair...I've been contacted by two other families one with the same deletion as Trey and one that needs the same exon but is not missing just the 52 and I'm so heartbroken that I've actually thought about dropping out and giving them my spot...why should I be special, my son afterall is one of the young ones here?.......I know we've fought, we've raised tons of money, gotten the Combined Federal Campaign involved, etc, etc...but it doesn't feel so great to feel so special right now...I know not even close to what you are going through, funny I'm one of the 'lucky families' and I feel like crap because this doesn't work for everyone and it hurts, bad.
 
Cori......My son is also up for this study.....Thanks for letting us know there is progress!!!! I'll be contacting the study people, but if they contacted you that's GREAT!!! We all want to be a part of some study,some hope for our boys,, but the cold, hard truth is the doctors have to choose the best candidates.....If that is your son instead of mine, then please do it for both our boys!!! My son is 11 and still walking....I'm hoping to keep it that way and was really down that AVI and Prosensa seemed stalled. Now I have a renewed hope!!!!!! Thank you to all who are participating in all studies!!!!! All our boys are greatful, not jealous, of your work!!!!!!!!!!!!! Karen
Cori - Thank you for your note.  It is what is it.  Our son is in the window now - 8 1/2 yrs old when he is going to start to decline.  I pray every day that some thing will come along.  Nothing has yet - not the exon skipping or the PTC RX.  I just posted b/c I was reaching out to others who may feel the same way.  I have also raised money and worked hard to stay on top of the research and meet other DMD families and go to the conferences.  I may not be as prolific as others but I am a full time working mom as well.  I do the best I can every day for my son and family.  Just very sad about the state of research for duplications.  Good luck on your clinical trial.  Char Burke

Cori said:
Char, I just wanted to tell you that I am heartbroken for you and many other families...we were the ones contacted yesterday at 1:30pm from Dr. Mendell about the AVI Exon 51 Trial....as happy as we are about this, I don't understand why we were the only family contacted, my only guess is Trey quite possibly is the youngest of all of the boys, regardless as much as I should be jumping up and down, my heart is crushed because it's just not fair...I've been contacted by two other families one with the same deletion as Trey and one that needs the same exon but is not missing just the 52 and I'm so heartbroken that I've actually thought about dropping out and giving them my spot...why should I be special, my son afterall is one of the young ones here?.......I know we've fought, we've raised tons of money, gotten the Combined Federal Campaign involved, etc, etc...but it doesn't feel so great to feel so special right now...I know not even close to what you are going through, funny I'm one of the 'lucky families' and I feel like crap because this doesn't work for everyone and it hurts, bad.
HI Char...I'm sorry if I didn't express myself clearly....I never meant to imply that you where "jealous' of Cori. Since my son is up for the same trial as hers, I didn't want her to think I was jealous she was called and we weren't. I was responding to what I perceived as a type of "survivors guilt" in her message......I know how desperate you feel....when we received my son's diagnoses,there weren't any trials in the works.....we were told to love and enjoy our son and try not to worry about tomorrow. While this is good advice for all parents, it's not what you want to hear when someone tells you YOUR child has a fatal, untreatable disease.While I am very grateful that Lucas is 11 and still walking, I feel desperate each time he falls and wonder when he won't get up again! Will treatment come, but be too late for my boy???Regardless of deletions,multiplications,or nonsense.....we are all in this together and a victory for one eventually will be a victory for all the boys. It's an unfortunate fact that they can't find a cure one, cure them all treatment. So instead some will feel bad because they are a "lucky family" and others will feel "left behind". I hope what we can do is hold on to our boys and each other and eventually BE FREE of this DMD nightmare!!!! 
 - I don't think you understand what I my point of the post was.  I am not "jealous" of who is participating in the trial.  Nor am I jealous of the work that Cori has done.  Rather - I am upset, sad, grieving that our son has a duplication - that exon skipping won't help...nor PTC RX either nor is there anything out there for duplications right now.  I am happy for those that will be treated - including your son.  There is no jealousy here - it sadness b/c basically - duplications are complex and since there are not many who have them (I think it's about 10-20% of the DMD boys), then will it ever be enough return on equity for the pharmas to research them.  Basically it's all about the money and that hurts when it is my son's life that we are talking about.  Char Burke

Karen flor said:


Cori said:
Char, I just wanted to tell you that I am heartbroken for you and many other families...we were the ones contacted yesterday at 1:30pm from Dr. Mendell about the AVI Exon 51 Trial....as happy as we are about this, I don't understand why we were the only family contacted, my only guess is Trey quite possibly is the youngest of all of the boys, regardless as much as I should be jumping up and down, my heart is crushed because it's just not fair...I've been contacted by two other families one with the same deletion as Trey and one that needs the same exon but is not missing just the 52 and I'm so heartbroken that I've actually thought about dropping out and giving them my spot...why should I be special, my son afterall is one of the young ones here?.......I know we've fought, we've raised tons of money, gotten the Combined Federal Campaign involved, etc, etc...but it doesn't feel so great to feel so special right now...I know not even close to what you are going through, funny I'm one of the 'lucky families' and I feel like crap because this doesn't work for everyone and it hurts, bad.
 
Cori......My son is also up for this study.....Thanks for letting us know there is progress!!!! I'll be contacting the study people, but if they contacted you that's GREAT!!! We all want to be a part of some study,some hope for our boys,, but the cold, hard truth is the doctors have to choose the best candidates.....If that is your son instead of mine, then please do it for both our boys!!! My son is 11 and still walking....I'm hoping to keep it that way and was really down that AVI and Prosensa seemed stalled. Now I have a renewed hope!!!!!! Thank you to all who are participating in all studies!!!!! All our boys are greatful, not jealous, of your work!!!!!!!!!!!!! Karen

Char & Karen,

 

Sorry it has been a few days, life is crazy with everything happening out our way...and yes Karen, I guess in many ways right now, I do have 'survivors guilt'...I feel bad that one of our great friends down this way 'pretends' to be happy for us, knowing in our heart that she truely is one of our greatest cheerleaders, but seeing her devastated at the same time...that is a difficult one for me.

 

My hope would be that once they figure out this Exon 51, that not much research would need to be done for the rest of the Exons, that they would roll right through them w/ the only financial burden of the FDA trials, which would hopefully be short and sweet if the Exon 51 trial poses no difficulties or few...  Then we could roll right into the duplications and to the boys that need multiple exons skipped. 

 

I, personally, will, even if my son is cured, not give up this fight until ALL boys are cured...and I hope that everyone would have the same feelings towards this...I just want them to hurry up already and keep moving forward quickly as it looks like the ACE-031 is producing some pretty amazing results as well that will work for ALL boys and this is what we need...something that will work for EVERY SINGLE one of them...if the Exon Skipping can be done in conjunction with the ACE, then that is fabulous, but even if we had something that slowed the disease down dramatically like the ACE to hold the boys that aren't currently in the line for the Exon Skipping off until research has gotten that far, it would be amazing...

 

I'm sure that all of us as parents feel like we wish there was MORE we could do, but I really feel like EVERY single one of us is doing what we are capable of doing, financially and emotionally...as much as we just want to keep moving forward we have to flippin wait for the FDA and such to move forward with us which is the real big, bad, scary, awful part of it all.

My son has a duplication of exons 8 through 12 and today to I feel hopeless, too. Above all, because I am seeing his decline, loss of ambulation now at 9 years of age. But, anyway, we enjoy our present time as much as possible; there are good days and bad days of course. We won't give up, though.

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