Guest guest Posted January 9, 2007 Report Share Posted January 9, 2007 " but I think the ears are adorable and part of the whole kid. " Meg Me too, Meg. If Kennedy wants her ears changed when she's older, she can make that decision. I love her ears. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 9, 2007 Report Share Posted January 9, 2007 what manual? - M. Mother of Anabelle (12 months) > > Meg Hefner, Genetic Counselor here. I think we all agree > that the " R " in CHARGE would be better off gone. Many years > ago, I suggested we change it to " N " for nerve > abnormalities, then it would be CHANGE syndrome ;-) > > Unfortunately, once something like this is given a name, > it's really hard to change. Look at VATER. It was > " changed " to VACTERL, but most people still use VATER. If > you were to look back at the 1981 paper which coined the > term " CHARGE " you would find that even then the authors > recognized that the letters didn't cover everything, it was > mostly a cute, catchy name for the newly recognized set of > features. > > What we have tried to do in the new diagnostic criteria, the > brochure, and any writing we (as geneticists) is to make the > letters a bit more helpful. We have expanded the " C " to > cover not only colobomas, but also cranial nerve > abnormalities (which include facial palsy and the ubiquitous > swallowing problems). As far as the R, we try to say it > stands for " retardation of growth (put that first) and > development " Maybe we can eventually leave it at growth > retardation. > > Retardation of development is accurate for CHARGE - with all > those issues, of course development will be delayed. The > thing that separates charge from many other conditions is > that there is catch-up of development, too. Often well into > the normal range. > > As far as " ammunition " for the schools, etc. everyone > should have the Manual. Make copies of the " overview for > physicians " and highlight the part that says that > retardation is not part of CHARGE. The newer development > sections on the influence of sensory loss (hearing and > vision deficits) on development are good, too. Often the > best we can do iskeep trying to educate all the people who > are working with the kids. > Meg > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 9, 2007 Report Share Posted January 9, 2007 HI , The CHARGE Syndrome Management Manual is available from the CHARGE Syndrome Foundation. Visit www.chargesyndrome.org or email marion@... order one. No family should be without it! > > what manual? > > - M. > Mother of Anabelle (12 months) > > > > > > Meg Hefner, Genetic Counselor here. I think we all agree > > that the " R " in CHARGE would be better off gone. Many years > > ago, I suggested we change it to " N " for nerve > > abnormalities, then it would be CHANGE syndrome ;-) > > > > Unfortunately, once something like this is given a name, > > it's really hard to change. Look at VATER. It was > > " changed " to VACTERL, but most people still use VATER. If > > you were to look back at the 1981 paper which coined the > > term " CHARGE " you would find that even then the authors > > recognized that the letters didn't cover everything, it was > > mostly a cute, catchy name for the newly recognized set of > > features. > > > > What we have tried to do in the new diagnostic criteria, the > > brochure, and any writing we (as geneticists) is to make the > > letters a bit more helpful. We have expanded the " C " to > > cover not only colobomas, but also cranial nerve > > abnormalities (which include facial palsy and the ubiquitous > > swallowing problems). As far as the R, we try to say it > > stands for " retardation of growth (put that first) and > > development " Maybe we can eventually leave it at growth > > retardation. > > > > Retardation of development is accurate for CHARGE - with all > > those issues, of course development will be delayed. The > > thing that separates charge from many other conditions is > > that there is catch-up of development, too. Often well into > > the normal range. > > > > As far as " ammunition " for the schools, etc. everyone > > should have the Manual. Make copies of the " overview for > > physicians " and highlight the part that says that > > retardation is not part of CHARGE. The newer development > > sections on the influence of sensory loss (hearing and > > vision deficits) on development are good, too. Often the > > best we can do iskeep trying to educate all the people who > > are working with the kids. > > Meg > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 10, 2007 Report Share Posted January 10, 2007 , Thank you. Although my daughter is a year old now, I feel like this is all new to me. It's like we've been living this whole year in a fog of hospitals and surgeries. Thanks again. - M. Mother of Anabelle (12 months) > > > > > > Meg Hefner, Genetic Counselor here. I think we all agree > > > that the " R " in CHARGE would be better off gone. Many years > > > ago, I suggested we change it to " N " for nerve > > > abnormalities, then it would be CHANGE syndrome ;-) > > > > > > Unfortunately, once something like this is given a name, > > > it's really hard to change. Look at VATER. It was > > > " changed " to VACTERL, but most people still use VATER. If > > > you were to look back at the 1981 paper which coined the > > > term " CHARGE " you would find that even then the authors > > > recognized that the letters didn't cover everything, it was > > > mostly a cute, catchy name for the newly recognized set of > > > features. > > > > > > What we have tried to do in the new diagnostic criteria, the > > > brochure, and any writing we (as geneticists) is to make the > > > letters a bit more helpful. We have expanded the " C " to > > > cover not only colobomas, but also cranial nerve > > > abnormalities (which include facial palsy and the ubiquitous > > > swallowing problems). As far as the R, we try to say it > > > stands for " retardation of growth (put that first) and > > > development " Maybe we can eventually leave it at growth > > > retardation. > > > > > > Retardation of development is accurate for CHARGE - with all > > > those issues, of course development will be delayed. The > > > thing that separates charge from many other conditions is > > > that there is catch-up of development, too. Often well into > > > the normal range. > > > > > > As far as " ammunition " for the schools, etc. everyone > > > should have the Manual. Make copies of the " overview for > > > physicians " and highlight the part that says that > > > retardation is not part of CHARGE. The newer development > > > sections on the influence of sensory loss (hearing and > > > vision deficits) on development are good, too. Often the > > > best we can do iskeep trying to educate all the people who > > > are working with the kids. > > > Meg > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 11, 2007 Report Share Posted January 11, 2007 Meg - I'm a silent user of this site - I have a daughter with CHARGE - 7 years old - would you please email me your private email at gilberk@... - I'd love to talk with about questions and issues that I have. Thanks, Kim ________________________________ From: CHARGE on behalf of mami122006 Sent: Wed 1/10/2007 1:31 PM To: CHARGE Subject: Re: R in CHARGE , Thank you. Although my daughter is a year old now, I feel like this is all new to me. It's like we've been living this whole year in a fog of hospitals and surgeries. Thanks again. - M. Mother of Anabelle (12 months) > > > > > > Meg Hefner, Genetic Counselor here. I think we all agree > > > that the " R " in CHARGE would be better off gone. Many years > > > ago, I suggested we change it to " N " for nerve > > > abnormalities, then it would be CHANGE syndrome ;-) > > > > > > Unfortunately, once something like this is given a name, > > > it's really hard to change. Look at VATER. It was > > > " changed " to VACTERL, but most people still use VATER. If > > > you were to look back at the 1981 paper which coined the > > > term " CHARGE " you would find that even then the authors > > > recognized that the letters didn't cover everything, it was > > > mostly a cute, catchy name for the newly recognized set of > > > features. > > > > > > What we have tried to do in the new diagnostic criteria, the > > > brochure, and any writing we (as geneticists) is to make the > > > letters a bit more helpful. We have expanded the " C " to > > > cover not only colobomas, but also cranial nerve > > > abnormalities (which include facial palsy and the ubiquitous > > > swallowing problems). As far as the R, we try to say it > > > stands for " retardation of growth (put that first) and > > > development " Maybe we can eventually leave it at growth > > > retardation. > > > > > > Retardation of development is accurate for CHARGE - with all > > > those issues, of course development will be delayed. The > > > thing that separates charge from many other conditions is > > > that there is catch-up of development, too. Often well into > > > the normal range. > > > > > > As far as " ammunition " for the schools, etc. everyone > > > should have the Manual. Make copies of the " overview for > > > physicians " and highlight the part that says that > > > retardation is not part of CHARGE. The newer development > > > sections on the influence of sensory loss (hearing and > > > vision deficits) on development are good, too. Often the > > > best we can do iskeep trying to educate all the people who > > > are working with the kids. > > > Meg > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
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