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At 9:18am on November 20, 2009, Ofelia Marin said…
Hi Noreen,

I hope all is well with you. I wanted to make sure that you did not miss this summary: http://community.parentprojectmd.org/profiles/blogs/notes-from-treatnmd-conference

Very good news!

Ofelia
At 5:00pm on November 16, 2009, jenn said…
congrats to liam, and to proud mom! i know what you mean, max is amazing, nobody can tell with himeither. it is heartbreaking for austin though, because he has such a hard time. there is nothing i like about duchenne! take care, jenn
At 7:40pm on November 13, 2009, jenn said…
to answer your question about how much do they know, i guess im not sure. i was really young when they were diagnosed,having just turned 21, and may have been too honest, austin has known he had duchenne since age 3, max has grown up with the word in his vocabulary, he was diagnosed at 6 mos. austin understands that he will need a chair, and help with everything, he said recently "im getting too old to walk arent i?" and has said "im really starting to feel what duchenne is like" he doesnt say it in a sad way, or regretful, its more in a matter of fact. he understands why he needs to eat healthy, or rest more than his peers. im not sure he gets the life expectancy thing, because like you said how do i know when hes gonna die? max is very connected with death and dying, and does ask on a regular basis if he will live a long time. i say yes, because to him a long time is a year. i also asked austin if he would be willing to be in a trial, i explained what we hope the drugs will do, and also said they may do nothing, but it is important to have kids try stuff that might help. he says lets do it, his biggest hope is to be a 4 wheeler racer and drive a motorcycle when he grows up, and honestly, i think those things are possible. we let him in on everything, because he is more likely to cooperate, take his meds, eat healthy and go to the hospital willingly if he is not in the dark. surprisingly, my boys are some of the happiest, most well adjusted and fun kids i know, which is the important part. it is also something i think duchenne boys have in common, they all seem to smile, and be confident kiddos! sorry to talk your ear off! have a good night, jenn
At 5:14pm on November 13, 2009, jenn said…
noreen, i have no idea why it says i moderate comments, it asks me to apprve it before it gets posted. as for my boys, max still has yet to show a symptom at all, he is small for being almost 8, but is alot like liam, in that you really cant tell he has dmd. he can wait. austin wants a cure. he askes very day. he is willing to do anything, we are very open, and he wants to do it. my father owns a few homes in columbus, we would fly to the ends of the earth permanantly if we needed to anyway! i am going to fax the boys records to laurence monday, and keep my fingers crossed. i think i would have a hard time saying no to anything at this time. at the london meeting they said that if a rial drug appears at all helpful they must continue to offer it to the child even after the trial. i will be sure that is true. also steve shrewsbury said he is looking for ways to include non ambulatory kids in phase 2 and 3 so.... i wait. keep me in mind if any info comes your way. take care, jenn
At 3:24pm on November 13, 2009, jenn said…
hi noreen, just wanted to touch base with you. laurence viollet of nation wide childrens contacted me today, looking for coppies of my boys dna test confirming a deletion of 52 as well as what dose of deflazacort they are on. he is still saying march as a trial start date, and said it needs to be reviewed by the board and consent forms need to be signed by parents. this sounds like it is going to happen, my issue is, if they invite my boys to participate do i do it or hold out for prosensas phase 3??? my oldest, austin wont be walking much longer , he struggles to stand up as we speak. do you know if children who are accepted at the first trial are automatically allowed in phase two and three? also, hae you heard anything new about this or the prosensa trials? thanks, jenn
At 9:08am on November 6, 2009, Ofelia Marin said…
Hi Noreen, Thank you very much!!! Very good news! I think the fact that they think that exon skipping is going to work AND produce improvement (not only slow the progression) is HUGE! Mendell's trial seems safety to me too. The fact that they enroll only 32 patients shows that at this stage they are not looking for efficacy. AVI still doesn't have FDA approval to start enrolling so Mendell thinks that March 2010 is the earliest the trial might start (if FDA gives the green light by then). Next year should be very telling!
I did know that Glaxo bought PRO-051 and they are paying now for Phase III trial and everything after. Prosensa people said that they do not feel the need to increase the dose to more than 6 mg/kg at this point...that sounds so much lower than the 20 mg/kg AVI is using...but they say that the results obtained are good. It will be interesting to see what Hoffman says after meeting with them.

I did read a few things about Osteopontin. The levels are elevated in our kids and a reduction of Osteopontin levels results in a reduction of fibrosis. So if there is a genetic modifier that makes Liam's body produce lower levels of OPT that would be an explanation of why his progression is so much slower. I wonder if they can just measure his OPT levels by blood test. Reduction in OPT also reduced levels of TGF-beta, a known fibrosis mediator. I am quite sure that they can do blood tests for TGF-beta levels. It would be good to know what slows his progression. But either way it is very clear that Liam's progression is much, much slower and that is great for exon skipping!

Robert just turned 2 and we have not started steroids yet. I am quite scared of this step. On the other hand, I am thinking starting steroids would slow progression and keep more muscle mass for exon skipping. I was thinking to maybe wait until he is 3... Very hard decision.
At 9:17am on November 5, 2009, Ofelia Marin said…
Thank you so much Noreen! I really appreciate it!
At 10:59am on October 30, 2009, Ofelia Marin said…
You are very welcome Noreen. I really believe what I wrote about Liam. I am very sure that the treatment will be here in time for him, no doubt about it! Talk to you soon.
At 10:28am on October 30, 2009, Ofelia Marin said…
Noreen, you should not be scared. Liam is an outiler (can you belive that we need to use these words about our sons...). It is very clear that his muscles are in very good shape. If he would have fibrotic muscles he would not have been able to walk as well as he does and do all the things he does. You said that he walked in Italy. That would not be possible! The other boys I know cannot walk much even at 5 year old, they use strolers or scooters for long distances. This is not Liam's case, so I am sure his muscles are well preserved.
At 9:52am on October 30, 2009, Ofelia Marin said…
Thanks Noreen!
I had a question that I asked Steve Wilton also... They all say that exon skipping works well if started early; in mice they started very, very early. I would like to know what age would that equate in humans? Would 4-5 years old be considered "early" to make a significant difference in the progression? Also, do we expect to see improvement or only slow the progression with this treatment? If you look at the mice or dogs it's very hard to see b/c the treatment is started so early and they look almost normal...but what happens if you start the treatement later when they already have symptoms?

I know that Liam is doing so great so for him starting the treatement at this age is fine, but I am not sure how my son will progress and I was wondering if starting at 5 would be late (he is 2 years old now and doesn't show symptoms).

Well, I think it is great that we have exon skipping so close, we have a lot of hope now, it's much easier to live every day!

Thank you so much!
At 9:31am on October 30, 2009, Ofelia Marin said…
Hi Noreen, Thank you for your comment. I also think that it would be a better idea to be in a longer trials (Phase III) like Prosensa's. That will be one year long and the boys enrolled should be allowed to continue on the drug after the trial (similar to what PTC is doing with Ataluren). AVI's trial doesn't seem to me as Phase IIb/III, the number is so low and the duration is short (only 12 weeks). Please check the message board where I posted the MDA link on Wed. Some other mom posted the reply from Columbus Children's regarding to the 12 week on site requirment.

I exchanged emails with Steve Wilton yesterday and he said that it will take the next 2 years for AVI to figure our the dosing and frequency...I whish things would go faster...
At 3:59pm on October 26, 2009, jenn said…
hi noreen, im not sure if your husband tried to get in contact with me in london, unfortunatly my cell phone doesnt work there ( as i found when i got off the plane on thursday) neither does my internet feature on my blackberry. i did look around for an american sounding man, but didnt connect with him. i hope that he left feeling as hopeful as i felt. i spoke with both the avi and prosensa reps and both assured me that trial sites in 2010 will happen in the us, and canada. it was a shame i didnt meet your hubby, we probably were seated a stones throw away.
At 1:41pm on October 26, 2009, Ofelia Marin said…
Hi Noreen, I was wondering if they presented any more info about exon skipping at AD conference besides what was posted here: http://www.avibio.com/news_detail.php?newsId=0063

One thing that jumped at me was this: "Blood tests, including measures of coagulation, have remained satisfactory, with the elevated levels of muscle enzyme, creatine kinase tending to fall in most boys during treatment." So CK decrease in most boys but not ALL. I wonder why it did not fall in all the boys...
At 10:26am on September 29, 2009, Ofelia Marin said…
Hi Noreen, i just saw your message. Yes, I am quite sure that the min age for the trial is 5. They say that younger children are not able to follow instructions for the 6 min walk test etc. I am on facebook as well and get some info there from Debra Miller or Pat Furlong. Not a lot of stuff from the EMEA/FDA meeting except that AVI says that exon skipping for DMD is not a matter of "IF" but of "WHEN".

Please let me know what you find at the UK conference. I have a friend in the UK who attends it too.

Ofelia
At 4:16pm on September 24, 2009, Ana Vaish said…
I do not have the link. Debra Miller from Cure Duchenne has gone for it. She is a friend and wrote about it on her facebook. That's how I got to know!!!
At 1:20pm on September 24, 2009, Ana Vaish said…
Thanks a lot. Lets see what happens at the EMEA/FDA meeting in london this weekend!!!! Both Avi and Prosensa are going to be talking of future trials.

Best of Luck

Take care Ana
At 12:50pm on September 24, 2009, Ana Vaish said…
Hi Noreen,

So what news from Dr. Leshner? How did the meeting go? I am eager to know. Please let me know.

Thanks

Ana
At 12:13pm on September 22, 2009, Ana Vaish said…
Thanks a lot Noreen. I will eagerly wait to hear from u on Wednesday. Things are fine. I have taken an year off work to get things for Ryan in shape. Ryan is down with a cold and a little cough so is off school today. Rest is all fine. Talk to u tomorrow. Hope for the best for our boys!!!!
At 9:26am on September 22, 2009, Ana Vaish said…
Hi Noreen,

What did Dr. Hoffman say about the 51 trials from the muscle conference? Any new news. Let me know.
At 9:22am on September 22, 2009, Ana Vaish said…
Hi Noreen,

Any new news on the 51 trials? Let me know. I am getting really anxious.

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