Guest guest Posted March 5, 2006 Report Share Posted March 5, 2006 Hi , I'm behind on the posts, so others have probably already chimed in about this. As it stands right now, whether or not you have the gene for CHARGE is irrelevant in the diagnosis. The diagnosis is clinical, and based on having a certain number of " Major " and/or " Minor " characteristics. The CHARGE syndrome has a list of these features. I would definately clarify with the geneticist what exactly they found with your test, and why they suddenly don't think has CHARGE--with the choanal atresia and ears, that's two " Major " features (I'm not as familiar with the " minor " features). wrote: Hi everyone, I am just recently joining the CHARGE group. My son was born April 30, 2005. He had/has bilateral chaonal atresia, ptosis (both eyelids), one eye looks out, his one ear is shaped differently, severe loss in left ear, mild loss in right ear, heart murmur and left lip droop. (I think that's it) He was in St. Children's Hospital for about a month, because of the chaonal atresia. Besides that he can eat on his own and has excellent motor skills. He had a chromosome test done when he was first born for CHARGE and it came out Normal. Then I was told he could still have CHARGE. So this last November we went down to St. to meet with Dr. Davenport the Geneticist. She told me about a Gene test we could do that is fairly new. So we did the gene test and just got the results back today. Our Doctor was on her cell phone and I didnt really have time to ask any questions. But this is what she told me. That they found something different in the gene they look at for CHARGE from my side, but she doesnt think that it is what caused his problems. Apparently she knows of another family with the same situation and wants me to call her back in one year to see if she knows anything else because they are still working on the research. So we cannot yet say he has CHARGE, but hopefully in the future they will figure out this gene. I am wondering if their is anyone on here with a child, or themselves has the same birth defects or genetic results? I know that every child is different, but maybe someone close to the same. , Mother to 10 months CHARGE SYNDROME LISTSERV PHOTO PAGE: http://www.imagestation.com/album/?id=2117043995 Membership of this email support groups does not constitute membership in the CHARGE Syndrome Foundation or CHARGE Syndrome Canada. For information about the CHARGE Syndrome Foundation or to become a member (and get the newsletter), please contact marion@... or visit the web site at http://www.chargesyndrome.org (CHARGE Syndrome Canada - http://www.chargesyndrome.ca) 8th International CHARGE Syndrome Conference, July, 2007. Information will be available at www.chargesyndrome.org or by calling 1-. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 5, 2006 Report Share Posted March 5, 2006 , My lil' guy Max also " passed " the chromosome and gene test, but he indeed still is diagnosed with CHARGE based on having a number of the characteristics. I know it's confusing, I wanted to believe that maybe his prognosis would be better since his genes are not different, but that isn't necessarily the case. And quite honestly, there is so much work yet to be done in this huge world of genetics, that we may not understand it all in our lifetime. Who knows? How do your doctors want to move forward? Assume he has CHARGE? Or cancel their original diagnosis? Key Storrs wrote: Hi , I'm behind on the posts, so others have probably already chimed in about this. As it stands right now, whether or not you have the gene for CHARGE is irrelevant in the diagnosis. The diagnosis is clinical, and based on having a certain number of " Major " and/or " Minor " characteristics. The CHARGE syndrome has a list of these features. I would definately clarify with the geneticist what exactly they found with your test, and why they suddenly don't think has CHARGE--with the choanal atresia and ears, that's two " Major " features (I'm not as familiar with the " minor " features). wrote: Hi everyone, I am just recently joining the CHARGE group. My son was born April 30, 2005. He had/has bilateral chaonal atresia, ptosis (both eyelids), one eye looks out, his one ear is shaped differently, severe loss in left ear, mild loss in right ear, heart murmur and left lip droop. (I think that's it) He was in St. Children's Hospital for about a month, because of the chaonal atresia. Besides that he can eat on his own and has excellent motor skills. He had a chromosome test done when he was first born for CHARGE and it came out Normal. Then I was told he could still have CHARGE. So this last November we went down to St. to meet with Dr. Davenport the Geneticist. She told me about a Gene test we could do that is fairly new. So we did the gene test and just got the results back today. Our Doctor was on her cell phone and I didnt really have time to ask any questions. But this is what she told me. That they found something different in the gene they look at for CHARGE from my side, but she doesnt think that it is what caused his problems. Apparently she knows of another family with the same situation and wants me to call her back in one year to see if she knows anything else because they are still working on the research. So we cannot yet say he has CHARGE, but hopefully in the future they will figure out this gene. I am wondering if their is anyone on here with a child, or themselves has the same birth defects or genetic results? I know that every child is different, but maybe someone close to the same. , Mother to 10 months CHARGE SYNDROME LISTSERV PHOTO PAGE: http://www.imagestation.com/album/?id=2117043995 Membership of this email support groups does not constitute membership in the CHARGE Syndrome Foundation or CHARGE Syndrome Canada. For information about the CHARGE Syndrome Foundation or to become a member (and get the newsletter), please contact marion@... or visit the web site at http://www.chargesyndrome.org (CHARGE Syndrome Canada - http://www.chargesyndrome.ca) 8th International CHARGE Syndrome Conference, July, 2007. Information will be available at www.chargesyndrome.org or by calling 1-. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 5, 2006 Report Share Posted March 5, 2006 , My lil' guy Max also " passed " the chromosome and gene test, but he indeed still is diagnosed with CHARGE based on having a number of the characteristics. I know it's confusing, I wanted to believe that maybe his prognosis would be better since his genes are not different, but that isn't necessarily the case. And quite honestly, there is so much work yet to be done in this huge world of genetics, that we may not understand it all in our lifetime. Who knows? How do your doctors want to move forward? Assume he has CHARGE? Or cancel their original diagnosis? Key Storrs wrote: Hi , I'm behind on the posts, so others have probably already chimed in about this. As it stands right now, whether or not you have the gene for CHARGE is irrelevant in the diagnosis. The diagnosis is clinical, and based on having a certain number of " Major " and/or " Minor " characteristics. The CHARGE syndrome has a list of these features. I would definately clarify with the geneticist what exactly they found with your test, and why they suddenly don't think has CHARGE--with the choanal atresia and ears, that's two " Major " features (I'm not as familiar with the " minor " features). wrote: Hi everyone, I am just recently joining the CHARGE group. My son was born April 30, 2005. He had/has bilateral chaonal atresia, ptosis (both eyelids), one eye looks out, his one ear is shaped differently, severe loss in left ear, mild loss in right ear, heart murmur and left lip droop. (I think that's it) He was in St. Children's Hospital for about a month, because of the chaonal atresia. Besides that he can eat on his own and has excellent motor skills. He had a chromosome test done when he was first born for CHARGE and it came out Normal. Then I was told he could still have CHARGE. So this last November we went down to St. to meet with Dr. Davenport the Geneticist. She told me about a Gene test we could do that is fairly new. So we did the gene test and just got the results back today. Our Doctor was on her cell phone and I didnt really have time to ask any questions. But this is what she told me. That they found something different in the gene they look at for CHARGE from my side, but she doesnt think that it is what caused his problems. Apparently she knows of another family with the same situation and wants me to call her back in one year to see if she knows anything else because they are still working on the research. So we cannot yet say he has CHARGE, but hopefully in the future they will figure out this gene. I am wondering if their is anyone on here with a child, or themselves has the same birth defects or genetic results? I know that every child is different, but maybe someone close to the same. , Mother to 10 months CHARGE SYNDROME LISTSERV PHOTO PAGE: http://www.imagestation.com/album/?id=2117043995 Membership of this email support groups does not constitute membership in the CHARGE Syndrome Foundation or CHARGE Syndrome Canada. For information about the CHARGE Syndrome Foundation or to become a member (and get the newsletter), please contact marion@... or visit the web site at http://www.chargesyndrome.org (CHARGE Syndrome Canada - http://www.chargesyndrome.ca) 8th International CHARGE Syndrome Conference, July, 2007. Information will be available at www.chargesyndrome.org or by calling 1-. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 5, 2006 Report Share Posted March 5, 2006 , My lil' guy Max also " passed " the chromosome and gene test, but he indeed still is diagnosed with CHARGE based on having a number of the characteristics. I know it's confusing, I wanted to believe that maybe his prognosis would be better since his genes are not different, but that isn't necessarily the case. And quite honestly, there is so much work yet to be done in this huge world of genetics, that we may not understand it all in our lifetime. Who knows? How do your doctors want to move forward? Assume he has CHARGE? Or cancel their original diagnosis? Key Storrs wrote: Hi , I'm behind on the posts, so others have probably already chimed in about this. As it stands right now, whether or not you have the gene for CHARGE is irrelevant in the diagnosis. The diagnosis is clinical, and based on having a certain number of " Major " and/or " Minor " characteristics. The CHARGE syndrome has a list of these features. I would definately clarify with the geneticist what exactly they found with your test, and why they suddenly don't think has CHARGE--with the choanal atresia and ears, that's two " Major " features (I'm not as familiar with the " minor " features). wrote: Hi everyone, I am just recently joining the CHARGE group. My son was born April 30, 2005. He had/has bilateral chaonal atresia, ptosis (both eyelids), one eye looks out, his one ear is shaped differently, severe loss in left ear, mild loss in right ear, heart murmur and left lip droop. (I think that's it) He was in St. Children's Hospital for about a month, because of the chaonal atresia. Besides that he can eat on his own and has excellent motor skills. He had a chromosome test done when he was first born for CHARGE and it came out Normal. Then I was told he could still have CHARGE. So this last November we went down to St. to meet with Dr. Davenport the Geneticist. She told me about a Gene test we could do that is fairly new. So we did the gene test and just got the results back today. Our Doctor was on her cell phone and I didnt really have time to ask any questions. But this is what she told me. That they found something different in the gene they look at for CHARGE from my side, but she doesnt think that it is what caused his problems. Apparently she knows of another family with the same situation and wants me to call her back in one year to see if she knows anything else because they are still working on the research. So we cannot yet say he has CHARGE, but hopefully in the future they will figure out this gene. I am wondering if their is anyone on here with a child, or themselves has the same birth defects or genetic results? I know that every child is different, but maybe someone close to the same. , Mother to 10 months CHARGE SYNDROME LISTSERV PHOTO PAGE: http://www.imagestation.com/album/?id=2117043995 Membership of this email support groups does not constitute membership in the CHARGE Syndrome Foundation or CHARGE Syndrome Canada. For information about the CHARGE Syndrome Foundation or to become a member (and get the newsletter), please contact marion@... or visit the web site at http://www.chargesyndrome.org (CHARGE Syndrome Canada - http://www.chargesyndrome.ca) 8th International CHARGE Syndrome Conference, July, 2007. Information will be available at www.chargesyndrome.org or by calling 1-. Quote Link to comment Share on other sites More sharing options...
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