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Hi Cheryl,
Please don't take me wrong. I am not trying to be controversial or prove a point...nor do I think I know everything…though I’m sure many feel that I think I do. I don’t. Everything I write is how I understand it and is definitely wrong more so than right.
When I post, I am hoping someone can clarify what my thoughts are. Or, at the least, get all of us thinking. If one person writes what they believe is right and no one responds, then we will all head down the wrong path of thinking.
For example, I used to think that an intron, say 45, came before an exon, in this case exon 45. Because of forums like this, I was informed that no, intron 45 follows exon 45…and the same goes throughout genes. This is a case where I am glad we have these forums because I learned that I was wrong and what is correct. Because of parents and biologists from PPMD sites and other sites, I have been able to get a better understanding of things. Key word being “better” not “all”.
So, basically, all I am doing when I see a post that is different to my thoughts, I put up my understanding…err, 2 cents…and hope that someone (a third party) responds in agreement of one or the other, or, even a completely different thought to get me thinking even more.
All of us can read the exact same document on something (for example, how exon skipping works) and all of us, except the professionals, will interpret it differently. That’s why we are here, right? To help each other better understand and/or maybe even think outside of our own thoughts. That’s all I am doing and all I want in return.
I apologize if I was taken differently, that was not my intention.
BTW, where did you hear this news about Prosensa? This would be devastating if true.
Thanks and take care,
Christian
"How'd you get those smiley faces to drink beer?"
here you go:
Hi Cheryl,
Please don't take me wrong. I am not trying to be controversial or prove a point...nor do I think I know everything…though I’m sure many feel that I think I do. I don’t. Everything I write is how I understand it and is definitely wrong more so than right.
When I post, I am hoping someone can clarify what my thoughts are. Or, at the least, get all of us thinking. If one person writes what they believe is right and no one responds, then we will all head down the wrong path of thinking.
For example, I used to think that an intron, say 45, came before an exon, in this case exon 45. Because of forums like this, I was informed that no, intron 45 follows exon 45…and the same goes throughout genes. This is a case where I am glad we have these forums because I learned that I was wrong and what is correct. Because of parents and biologists from PPMD sites and other sites, I have been able to get a better understanding of things. Key word being “better” not “all”.
So, basically, all I am doing when I see a post that is different to my thoughts, I put up my understanding…err, 2 cents…and hope that someone (a third party) responds in agreement of one or the other, or, even a completely different thought to get me thinking even more.
All of us can read the exact same document on something (for example, how exon skipping works) and all of us, except the professionals, will interpret it differently. That’s why we are here, right? To help each other better understand and/or maybe even think outside of our own thoughts. That’s all I am doing and all I want in return.
I apologize if I was taken differently, that was not my intention.
BTW, where did you hear this news about Prosensa? This would be devastating if true.
Thanks and take care,
Christian
Something got a little lost in translation. I've been going nuts looking for it, but I could swear that I read in one of Scheuerbrandt's interview with Platenburg that Prosensa did not have enough dough to take its exon skipping compounds to market, and would need a partner. I'm sure that's the case for all of these little start ups. Nothing devastating; just biotech business as usual.
MicahsDaddy said:Hi Cheryl,
Please don't take me wrong. I am not trying to be controversial or prove a point...nor do I think I know everything…though I’m sure many feel that I think I do. I don’t. Everything I write is how I understand it and is definitely wrong more so than right.
When I post, I am hoping someone can clarify what my thoughts are. Or, at the least, get all of us thinking. If one person writes what they believe is right and no one responds, then we will all head down the wrong path of thinking.
For example, I used to think that an intron, say 45, came before an exon, in this case exon 45. Because of forums like this, I was informed that no, intron 45 follows exon 45…and the same goes throughout genes. This is a case where I am glad we have these forums because I learned that I was wrong and what is correct. Because of parents and biologists from PPMD sites and other sites, I have been able to get a better understanding of things. Key word being “better” not “all”.
So, basically, all I am doing when I see a post that is different to my thoughts, I put up my understanding…err, 2 cents…and hope that someone (a third party) responds in agreement of one or the other, or, even a completely different thought to get me thinking even more.
All of us can read the exact same document on something (for example, how exon skipping works) and all of us, except the professionals, will interpret it differently. That’s why we are here, right? To help each other better understand and/or maybe even think outside of our own thoughts. That’s all I am doing and all I want in return.
I apologize if I was taken differently, that was not my intention.
BTW, where did you hear this news about Prosensa? This would be devastating if true.
Thanks and take care,
Christian
Hi Christian,
I understand your position about exon skipping and appreciate your input. Paul and I make sure to always find your posts because not only have you been at this longer than we have but you do have loads of really great information. Yes, turning a DMD kid into a BMD patient isn't ideal. Exon skipping will just buy some time and nobody knows how much that will amount to since each child has different elements evident in their individual mutations. For our son, already 10, with treatments of exon skipping until something better comes along, we are at least hoping a little we might have a chance to preserve his ability to walk. My understanding, such as it is, is that walking itself helps preserve heart, lungs, soft muscle...I realize there are treatments and medications for conditions related to body organs but we are right on the edge with Alexander's walking and the onset of exon skipping. Or so we thought.
When Paul started this post he and I had taken the summer "off" reading this website in order to "press the reset button" with our boys. Stuff here can be stressful and we felt the kids needed a fun summer. When we returned, expecting not much to have changed, it appears we got behind because I thought Prosensa was still in the exon skipping business and am told they are going out(?). And, this announcement with AVI is great except it puts us behind at least another year (or more) from where we estimated to be with exon skipping (based on previous info).
We also continue hoping and working for treatment choices beyond exon skipping. Upregulation of Utrophin is clearly a very important for an option. If by chance upregulation and exon skipping become available at the same time then comparing pros and cons of each would be magnified before starting either.
cheryl
MicahsDaddy said:"Exon-skipping is not going to be 100% efficient and will never do more than make a DMD boy able to grow up to be a Becker's man......but this first generation of treatments is not going to do anything more than buy us time."
This is sooooooooo true. A while back, 8-12 months ago, i did some investigation on Beckers and the progression of it. On record, there have been patients who seen their 80th birthday. On the flip side, there are cases that fail to make it to 25....the progression can be identical to DMD.
That said, with exon skipping, who's to say which end of the statistics our children end up on. At the minimum, exon skipping gives the chance that our children will get a slow progressing form of BMD.
I met a gentleman in Oregon back in June who has BMD. He is 29 and confined to a wheelchair full time since he was 21. He can't lift his arms to eat, but he had no problem drinking champagne through a straw with his Sunday brunch. ;-)
“Your body stops making utrophin for a reason, and we're all about to find out why.”
Is this completely true? I know it is sort of true for you and myself, though we still do have UTRN in our bodies…I believe in smooth muscle. But what about in our boys? If they have 0% dystrophin, then they should still have a lot of UTRN in their systems since there is not any dystrophin to take it over.
http://en.wikipedia.org/wiki/Utrophin
“Utrophin expression is dramatically increased in patients with Duchenne's muscular dystrophy (and female carriers), both in those muscle fibers lacking dystrophin and in rare, revertant fibers that express dystrophin.”
With what is available today, I think a good place to start with our boys is to preserve muscle how ever as a parent we feel possible and do what we can to protect the lungs and heart. If nothing comes in time to keep our children walking, at least we know we have kept close tabs on the function of their lungs and hearts.
Hello Paul
My son has recently been diagnosed requiring exon 43 skipping and I wanted to know how your son is doing since you posted this in 2008 How close are we to the two exons you require for your son?
Ronald
Ronald,
In 2008, when I started this discussion, Alex had just turned 10. He is now 14, and will be 15 this summer. He has been in a wheelchair full time since 2011, and has been on various cardiac meds since about that same time. I have also learned more about his specific mutation. He has two missing nucleotides on exon 44, and these create a premature stop codon. This means that he has to skip both exon 44 and exon 45. The good news is that Prosensa's exon 44 compound is in clinical trials now, and the exon 45 compound should be starting this year. Of course, none of this can happen fast enough. Please friend me on Facebook, and I can point you to some more current discussions.
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