Guest guest Posted October 30, 1999 Report Share Posted October 30, 1999 Bruce: I've thought the same thing you have about the numbers of CHARGE kids. If 1:15,000 births have CHARGE, then Ventura County, Calif. (population 700,000 or so) should have 47 cases. Yet I only know of 4. The USA should have 17,0000 cases, yet the CHARGE Foundation only has a few hundred members. The only explanations I can think of are (1) some died, (2) some are not diagnosed, and (3) some of those who would be older adults now died because of less sophisticated medical treatment in the past. But the 1:15,000 figure still seems too high to me. What is the source of this number, anyway? Meg? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 30, 1999 Report Share Posted October 30, 1999 In a message dated 99-10-30 03:55:22 EDT, you write: << The only explanations I can think of are (1) some died, (2) some are not diagnosed, and (3) some of those who would be older adults now died because of less sophisticated medical treatment in the past. But the 1:15,000 figure >> My daughter Jillian may have never been diagnosed with CHARGE if I had not already had a son that died from the complications of it. Jillian has a much milder case than did and when she was born I diagnosed her as soon as they put her on my chest when the cord was cut. Everyone thought I was nuts, but I knew because I had already experienced it. IF, had never been here before Jillian then the problems she had would crept up one by one abd we would have never put 2 and 2 together to equal CHARGE. It made me wonder how many CHARGEr's are out there running around with a bunch of problems like Jillian and they have no answer. I would have never gotten early intervention, because I would have not realized until much later she was as delayed as she was. prepared me very much for him and I thank God for sending him to me for the short 6 months of his life. Foley Mom to 4, (CHARGE guy in heaven) and Jillian 19 mo. cHaRGE Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 31, 1999 Report Share Posted October 31, 1999 Robin: I feel the same way you do about under diagnosed cases out there. I think there are a lot more than we know about. The only reason, I feel, was diagnosed at 5 days old was because she was born with bilateral choanal atresia. They started checking other things then. The problems she has, other than feeding now, were so minor that I feel they would have missed them otherwise. Deafness and low-set rotated ears (but not real noticable) along with poor balance, reflux and poor suck/swallow resulting in Nissen and g-tube, ASD/PDA that self-resolved (the ASD was pretty noticable!), left retinal coloboma (only found because they were looking for dx to go with the atresia), Growth and developmental delay (and we STILL had to push for growth hormone deficiency testing and consultation even with the dx of CHARGE), small labia (and still not potty trained at 7 years old), tactile defensive, oral defensive, possible sunmucous cleft. These were all " little things " that would not have been added up to come to CHARGE until much later if hadn't had the atresia right off the bat. Friends in CHARGE, Marilyn Ogan Mom of Ken (10) and (7 - CHARGE), Wife of Rick Indianapolis, IN oganm@... Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 31, 1999 Report Share Posted October 31, 1999 How do they get 1 in 15000 anyway? If there are cases we/they aren't aware of then how did they get this ratio? Amy mom to Brittney 7 CHARgE Re: One in 15:000? > > > Robin: > I feel the same way you do about under diagnosed cases out there. I think > there are a lot more than we know about. > The only reason, I feel, was diagnosed at 5 days old was because she > was born with bilateral choanal atresia. They started checking other things > then. The problems she has, other than feeding now, were so minor that I > feel they would have missed them otherwise. Deafness and low-set rotated > ears (but not real noticable) along with poor balance, reflux and poor > suck/swallow resulting in Nissen and g-tube, ASD/PDA that self-resolved (the > ASD was pretty noticable!), left retinal coloboma (only found because they > were looking for dx to go with the atresia), Growth and developmental delay > (and we STILL had to push for growth hormone deficiency testing and > consultation even with the dx of CHARGE), small labia (and still not potty > trained at 7 years old), tactile defensive, oral defensive, possible > sunmucous cleft. These were all " little things " that would not have been > added up to come to CHARGE until much later if hadn't had the > atresia right off the bat. > Friends in CHARGE, > Marilyn Ogan > Mom of Ken (10) and (7 - CHARGE), Wife of Rick > Indianapolis, IN > oganm@... > > > For information about the CHARGE Syndrome Foundation or to become a member please contact marion@.... > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 1, 1999 Report Share Posted November 1, 1999 The rate for CHARGE is a guess. I've heard everything from 1:8000 to 1:15000. While I agree that there are probably numerous undiagnosed cases, I think these are high estimates. But who knows? has been trying to work on this. Any current thoughts ? Tim Hartshorne, father of (10) Bob Cronk wrote: > > > > How do they get 1 in 15000 anyway? If there are cases we/they aren't aware > of then how did they get this ratio? > > Amy mom to Brittney 7 CHARgE > > Re: One in 15:000? > > > > > > > Robin: > > I feel the same way you do about under diagnosed cases out there. I think > > there are a lot more than we know about. > > The only reason, I feel, was diagnosed at 5 days old was because > she > > was born with bilateral choanal atresia. They started checking other > things > > then. The problems she has, other than feeding now, were so minor that I > > feel they would have missed them otherwise. Deafness and low-set rotated > > ears (but not real noticable) along with poor balance, reflux and poor > > suck/swallow resulting in Nissen and g-tube, ASD/PDA that self-resolved > (the > > ASD was pretty noticable!), left retinal coloboma (only found because they > > were looking for dx to go with the atresia), Growth and developmental > delay > > (and we STILL had to push for growth hormone deficiency testing and > > consultation even with the dx of CHARGE), small labia (and still not potty > > trained at 7 years old), tactile defensive, oral defensive, possible > > sunmucous cleft. These were all " little things " that would not have been > > added up to come to CHARGE until much later if hadn't had the > > atresia right off the bat. > > Friends in CHARGE, > > Marilyn Ogan > > Mom of Ken (10) and (7 - CHARGE), Wife of Rick > > Indianapolis, IN > > oganm@... > > > > > For information about the CHARGE Syndrome Foundation or to become a member > please contact marion@.... > > > > > For information about the CHARGE Syndrome Foundation or to become a member please contact marion@.... Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 2, 1999 Report Share Posted November 2, 1999 hi tim and friends kim blake in one her publications estimated the rate to be 1 in 12,000 live births. having looked at a number of first world countries, i believe the rate is much less frequent. i guessing about one in 50,000 to 100,000 live births. There are has been no systemic study of this. the variables that can impact on the figures and live outcomes are: termination rate for birth defects - small impact spontaneous losses from miscarriages - small impact mortality - moderate impact (40% in some series) quality of life saving care - mild impact missed or undiagnosed children - mild impact i have written to the French and Belgium groups for their figures. Hopefully our national prospective study commencing in Jan 2000 in Australia and New Zealand will give us more accurate figures. Something for Indianopolisin 2001! How about somebody putting together the figures of each State in the USA. I am happy to coordinate the project? Let me know what u think? george williams babydoc Oz " S. Hartshorne " wrote: > > From: > > The rate for CHARGE is a guess. I've heard everything from 1:8000 to > 1:15000. While I agree that there are probably numerous undiagnosed > cases, I think these are high estimates. But who knows? > has been trying to work on this. Any current thoughts ? > > Tim Hartshorne, father of (10) > > Bob Cronk wrote: > > > > > > > > How do they get 1 in 15000 anyway? If there are cases we/they aren't aware > > of then how did they get this ratio? > > > > Amy mom to Brittney 7 CHARgE > > > > Re: One in 15:000? > > > > > > > > > > > Robin: > > > I feel the same way you do about under diagnosed cases out there. I think > > > there are a lot more than we know about. > > > The only reason, I feel, was diagnosed at 5 days old was because > > she > > > was born with bilateral choanal atresia. They started checking other > > things > > > then. The problems she has, other than feeding now, were so minor that I > > > feel they would have missed them otherwise. Deafness and low-set rotated > > > ears (but not real noticable) along with poor balance, reflux and poor > > > suck/swallow resulting in Nissen and g-tube, ASD/PDA that self-resolved > > (the > > > ASD was pretty noticable!), left retinal coloboma (only found because they > > > were looking for dx to go with the atresia), Growth and developmental > > delay > > > (and we STILL had to push for growth hormone deficiency testing and > > > consultation even with the dx of CHARGE), small labia (and still not potty > > > trained at 7 years old), tactile defensive, oral defensive, possible > > > sunmucous cleft. These were all " little things " that would not have been > > > added up to come to CHARGE until much later if hadn't had the > > > atresia right off the bat. > > > Friends in CHARGE, > > > Marilyn Ogan > > > Mom of Ken (10) and (7 - CHARGE), Wife of Rick > > > Indianapolis, IN > > > oganm@... > > > > > > > For information about the CHARGE Syndrome Foundation or to become a member > > please contact marion@.... > > > > > > > > For information about the CHARGE Syndrome Foundation or to become a member please contact marion@.... > > > For information about the CHARGE Syndrome Foundation or to become a member please contact marion@.... Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 2, 1999 Report Share Posted November 2, 1999 , Who could I contact to get the figures for my state ( Michigan ). I would be more than happy to do so. Just need a little guidance to get started. Thanks, Amy mom to Brittney 7 CHARgE Re: One in 15:000? > > > > > > > > > > > > > > > Robin: > > > > I feel the same way you do about under diagnosed cases out there. I think > > > > there are a lot more than we know about. > > > > The only reason, I feel, was diagnosed at 5 days old was because > > > she > > > > was born with bilateral choanal atresia. They started checking other > > > things > > > > then. The problems she has, other than feeding now, were so minor that I > > > > feel they would have missed them otherwise. Deafness and low-set rotated > > > > ears (but not real noticable) along with poor balance, reflux and poor > > > > suck/swallow resulting in Nissen and g-tube, ASD/PDA that self-resolved > > > (the > > > > ASD was pretty noticable!), left retinal coloboma (only found because they > > > > were looking for dx to go with the atresia), Growth and developmental > > > delay > > > > (and we STILL had to push for growth hormone deficiency testing and > > > > consultation even with the dx of CHARGE), small labia (and still not potty > > > > trained at 7 years old), tactile defensive, oral defensive, possible > > > > sunmucous cleft. These were all " little things " that would not have been > > > > added up to come to CHARGE until much later if hadn't had the > > > > atresia right off the bat. > > > > Friends in CHARGE, > > > > Marilyn Ogan > > > > Mom of Ken (10) and (7 - CHARGE), Wife of Rick > > > > Indianapolis, IN > > > > oganm@... > > > > > > > > > For information about the CHARGE Syndrome Foundation or to become a member > > > please contact marion@.... > > > > > > > > > > > For information about the CHARGE Syndrome Foundation or to become a member please contact marion@.... > > > > > For information about the CHARGE Syndrome Foundation or to become a member please contact marion@.... > > > For information about the CHARGE Syndrome Foundation or to become a member please contact marion@.... > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 3, 1999 Report Share Posted November 3, 1999 Re: One in 15:000? : Did you ever get a CHARGE registry set up in Canada? You were around Hamilton, St. ph's Hospital this summer? If not, the CBDRA got funding for a long overdue deafblind registry for Canada, so maybe this could be extended to CHARGE? Or would a hospital need to be responsible for the collection of data? ANN > > > hi tim and friends > > kim blake in one her publications estimated the rate to be 1 in 12,000 > live births. having looked at a number of first world countries, i > believe the rate is much less frequent. i guessing about one in 50,000 > to 100,000 live births. There are has been no systemic study of this. > the variables that can impact on the figures and live outcomes are: > > termination rate for birth defects - small impact > spontaneous losses from miscarriages - small impact > mortality - moderate impact (40% in some series) > quality of life saving care - mild impact > missed or undiagnosed children - mild impact > > i have written to the French and Belgium groups for their figures. > > Hopefully our national prospective study commencing in Jan 2000 in > Australia and New Zealand will give us more accurate figures. Something > for Indianopolisin 2001! > > How about somebody putting together the figures of each State in the > USA. I am happy to coordinate the project? Let me know what u think? > > george williams > babydoc > Oz Quote Link to comment Share on other sites More sharing options...
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