Maggie
  • Female
  • Fairlee, VT
  • United States
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Maggie's Discussions

Fibrosis

Started this discussion. Last reply by wainaina muiruri Sep 13, 2014. 3 Replies

I understand that fibrosis has a fair amount to do with this disease because it creates a barrier to the regeneration of muscle. I know there are some drugs being researched that are supposed to slow…Continue

Question about gonadal mosaicism

Started this discussion. Last reply by Janine Feb 10, 2014. 4 Replies

Is it hereditary? From what I can tell, a gonadal mosaic happens when a mutation occurs in an early stage of embryonic development, so that makes me think that no, it isn't hereditary. I mean,…Continue

Exon skipping and rarer deletions

Started this discussion. Last reply by Keith Van Houten Mar 16, 2014. 10 Replies

Can anyone point me in the direction of more recent information about exon skipping and rare deletions? My son has a deletion of exons 60-62. There's a possibility with this deletion that it could be…Continue

Online Community??

Started this discussion. Last reply by Keith Van Houten Jan 8, 2014. 2 Replies

Hi all,I am new to all of this and feeling a little lost at sea…I can see the discussions and groups on the PPMD website aren't particularly active currently (probably because it all moved over to…Continue

 

Maggie's Page

Latest Activity

wainaina muiruri replied to Maggie's discussion Fibrosis
"Hi Maggie,pls have a look at this item i picked from the net on fibrosis and decorin ( a compound that was under study a few years ago for suppression of fibrosis)  http://www.distrofiamuscular.net/fibrosis_dmd.PDF?origin=publication_detail"
Sep 13, 2014
Maggie replied to Maggie's discussion Fibrosis
"Sounds like it to me...thanks."
Sep 9, 2014
wainaina muiruri replied to Maggie's discussion Fibrosis
"Hi Maggie, I came across this item on myostatin and thought,well, most of us have heard or read something on mysostatin at one time or the other.Still i think i good i share. Am i reading it wrong or would it mean that muscle lost to fibrosis and…"
Sep 9, 2014
Maggie posted a discussion

Fibrosis

I understand that fibrosis has a fair amount to do with this disease because it creates a barrier to the regeneration of muscle. I know there are some drugs being researched that are supposed to slow or stop it, but can it be reversed once it has already happened? I'm just curious.See More
Sep 8, 2014
Maggie replied to Jason Darienzo's discussion Sarepta scenarios for moving forward
"I've been wondering where things stand as far as the phase 3 trial (regardless of accelerated approval). Seems that if it needs to be a large trial, most of the boys who can benefit from it would be enrolled in the trial anyway…though a…"
Apr 13, 2014
Keith Van Houten replied to Maggie's discussion Exon skipping and rarer deletions
"The usual definition is <5% dystrophin is termed duchenne.  So, it depends on what "some" meant. A diagnosis based solely on the DNA result showing an out of frame mutation is done using what's called the "reading frame…"
Mar 16, 2014
Maggie replied to Maggie's discussion Exon skipping and rarer deletions
"I have a friend whose son was diagnosed with DMD based on out of frame mutation, but has milder symptoms and a muscle biopsy was done and they found some dystrophin, but kept the diagnosis DMD. I was under the understanding that dystrophin in the…"
Mar 15, 2014
Keith Van Houten replied to Maggie's discussion Exon skipping and rarer deletions
"An exon 44 deletion would be predicted to result of Duchenne.  In theory, skipping exon 45 would restore the reading frame.  The only way to differentiate DMD and BMD with certainty is a muscle biopsy.  "
Mar 10, 2014
VIJENDER BAJAJ replied to Maggie's discussion Exon skipping and rarer deletions
"Hi Everyone my son has deletion of exon -44 which skipping help him . His age is now 4year . Pl suggest us what should do so that his life quality improve. How we differentiate bmd with dmd. there is any test which call clear it. which reasearch…"
Mar 10, 2014
Maggie replied to Maggie's discussion Exon skipping and rarer deletions
"I can only imagine every parent of a child with DMD is doing everything they can to try and convince the FDA, as well as putting pressure on congress to put pressure on the FDA. Also raising awareness so that other people will do the same. I hope…"
Mar 2, 2014
Maggie replied to Bernardo A. Iriberri's discussion Ataluren Webinar
"Regardless of what the facts are and why certain decisions get made in these trials, I can feel it coming that twenty years from now, people will look back on this time as the tumultuous and heartbreaking time DMD drugs went through in their early…"
Feb 16, 2014
Maggie replied to Maggie's discussion Question about gonadal mosaicism
"Right, but if I got the mutation from my mother, that would make me a carrier (my egg had the mutation, so I have the deletion too), not a gonadal mosaic. If I don't have the mutation but my son does, it was either just his egg or some…"
Feb 10, 2014
Hally Goldstein replied to Maggie's discussion Question about gonadal mosaicism
"Your sisters should be tested since your mother may have had more then one affected egg with the mutation."
Feb 10, 2014
Maggie replied to Jason Darienzo's discussion Sarepta's largest invester
"This was helpful for me to read, thank you."
Feb 5, 2014
Maggie posted a discussion

Question about gonadal mosaicism

Is it hereditary? From what I can tell, a gonadal mosaic happens when a mutation occurs in an early stage of embryonic development, so that makes me think that no, it isn't hereditary. I mean, obviously it is passed on to the children if they get one of the flawed eggs, but I didn't get it from my mother, right?? So if I am a gonadal mosaic and not a DNA carrier, my mom and sisters don't need to worry about also being gonadal mosaics, right? It's just my own personal mutation, right?See More
Feb 1, 2014
Maggie replied to Nadja's discussion No news about summit
"Yes, 1b is just in the UK, but the phase 2 trial will be in the U.S. as well."
Jan 31, 2014

Profile Information

About my family:
I am married with two boys. The oldest has DMD (possibly Becker, his mutation is one of those mysterious ones that can go either way…)
Age(s) of child(ren)/individual(s) with Duchenne:
4-6
City:
Fairlee
State:
Vermont

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