Guest guest Posted March 9, 2004 Report Share Posted March 9, 2004 Hi Sara, First, please don't panic. Get him tested and then deal with it. Also, if this pill works the way they say it will, my doctor (Dr. Moss at Stanford - very well respected), said that once drugs are in phase 2 human trials, if they work and are approved (I know it's a big IF, since only a small percentage make it), it only takes about 1 - 2 years. Anyway, my fingers are sooooo crossed - along with my toes, legs, eyes, etc.... All my best, C Mommy to Mick and Alli, 4 yo twins wcf --- dwson2 wrote: > Hi Everyone, > I just went to the website mentioned about the pill > PTC124 that will > correct stop mutations. I went there hoping to find > the magic words > that maybe popping a pill would make all the > difference in the world > for Zach. Then I read that Duchenne muscular > dystrophy is a genetic > muscle weakness disorder caused by a stop mutation. > I did some more > research and I think Zach may have Duchenne muscular > dystrophy. I > am trying to stay calm, but it listed his symptoms > to a tee. Please > send special thoughts to Zach. The prognosis for > men with DMD is to > be wheelchairbound by age 12. Although there are > worse fates in > this world, it has left me very upset imagining that > my son not only > will have to face life as a cf patient but that he > would also have > to battle it wheelchair bound. I know I am getting > my cart before my > horse but those of you who know me well, know that > this is my usual > mode of transportation. > I can't even bear to tell what I found. It > will break his > heart to bits. > Sara > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 10, 2004 Report Share Posted March 10, 2004 , You are right. It could be worse. If Zach has DMD and it is caused by a mutation other than a stop mutation, then the new drug would not help. I so hope that he only needs some physical therapy and that his delays can be corrected. I am trying to stay positive. I am going to enjoy the next few weeks until our appointment with the developmental pediatrican. Instead of worrying what it might be, I am going to assume the best and spend lots of time just playing with Zach. Thanks for your encouraging words. Sara > Hi Sara, > > First, please don't panic. Get him tested and then > deal with it. Also, if this pill works the way they > say it will, my doctor (Dr. Moss at Stanford - very > well respected), said that once drugs are in phase > 2 human trials, if they work and are approved (I > know it's a big IF, since only a small percentage > make it), it only takes about 1 - 2 years. > > Anyway, my fingers are sooooo crossed - along with my > toes, legs, eyes, etc.... > > All my best, > > C > Mommy to Mick and Alli, 4 yo twins wcf Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 10, 2004 Report Share Posted March 10, 2004 DEAR SARA, I am so very sorry about this DX. Please get to the doc before you are for sure.PLEASE, It will help you & they might know some new treatments, etc. I will hold you & that precious family in my special thoughts . LOVE & HUGS, GrandmoMBEV PTC124 Hi Everyone, I just went to the website mentioned about the pill PTC124 that will correct stop mutations. I went there hoping to find the magic words that maybe popping a pill would make all the difference in the world for Zach. Then I read that Duchenne muscular dystrophy is a genetic muscle weakness disorder caused by a stop mutation. I did some more research and I think Zach may have Duchenne muscular dystrophy. I am trying to stay calm, but it listed his symptoms to a tee. Please send special thoughts to Zach. The prognosis for men with DMD is to be wheelchairbound by age 12. Although there are worse fates in this world, it has left me very upset imagining that my son not only will have to face life as a cf patient but that he would also have to battle it wheelchair bound. I know I am getting my cart before my horse but those of you who know me well, know that this is my usual mode of transportation. I can't even bear to tell what I found. It will break his heart to bits. Sara ------------------------------------------- The opinions and information exchanged on this list should IN NO WAY be construed as medical advice. PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS. ------------------------------------ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 10, 2004 Report Share Posted March 10, 2004 Dear Sara, I certainly hope you are wrong about Zach having DMD but you need to for your peace of mind get him seen at a MD center and tested. I am not sure what the test is but I am fairly sure there is one. Please try not to panic. I can only say this as it is not my child but I hope and yes pray it is not so. Please let us hear you have an appt for him asap. love, M Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 10, 2004 Report Share Posted March 10, 2004 Sara, has it right, from a REAL expert! Love, n Rojas Re: PTC124 Hi Sara, First, please don't panic. Get him tested and then deal with it. Also, if this pill works the way they say it will, my doctor (Dr. Moss at Stanford - very well respected), said that once drugs are in phase 2 human trials, if they work and are approved (I know it's a big IF, since only a small percentage make it), it only takes about 1 - 2 years. Anyway, my fingers are sooooo crossed - along with my toes, legs, eyes, etc.... All my best, C Mommy to Mick and Alli, 4 yo twins wcf --- dwson2 wrote: > Hi Everyone, > I just went to the website mentioned about the pill > PTC124 that will > correct stop mutations. I went there hoping to find > the magic words > that maybe popping a pill would make all the > difference in the world > for Zach. Then I read that Duchenne muscular > dystrophy is a genetic > muscle weakness disorder caused by a stop mutation. > I did some more > research and I think Zach may have Duchenne muscular > dystrophy. I > am trying to stay calm, but it listed his symptoms > to a tee. Please > send special thoughts to Zach. The prognosis for > men with DMD is to > be wheelchairbound by age 12. Although there are > worse fates in > this world, it has left me very upset imagining that > my son not only > will have to face life as a cf patient but that he > would also have > to battle it wheelchair bound. I know I am getting > my cart before my > horse but those of you who know me well, know that > this is my usual > mode of transportation. > I can't even bear to tell what I found. It > will break his > heart to bits. > Sara > > ------------------------------------------- The opinions and information exchanged on this list should IN NO WAY be construed as medical advice. PLEASE CONSULT YOUR PHYSICIAN BEFORE CHANGING ANY MEDICATIONS OR TREATMENTS. ------------------------------------ ------------------------------------------------------------------------------ Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 13, 2004 Report Share Posted March 13, 2004 Sara, What are the symptoms of Duchenne muscular dystrophy? I hope that you are worrying for nothing. I hope this a lot! Gale > Hi Everyone, > I just went to the website mentioned about the pill PTC124 that will > correct stop mutations. I went there hoping to find the magic words > that maybe popping a pill would make all the difference in the world > for Zach. Then I read that Duchenne muscular dystrophy is a genetic > muscle weakness disorder caused by a stop mutation. I did some more > research and I think Zach may have Duchenne muscular dystrophy. I > am trying to stay calm, but it listed his symptoms to a tee. Please > send special thoughts to Zach. The prognosis for men with DMD is to > be wheelchairbound by age 12. Although there are worse fates in > this world, it has left me very upset imagining that my son not only > will have to face life as a cf patient but that he would also have > to battle it wheelchair bound. I know I am getting my cart before my > horse but those of you who know me well, know that this is my usual > mode of transportation. > I can't even bear to tell what I found. It will break his > heart to bits. > Sara Quote Link to comment Share on other sites More sharing options...
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