Guest guest Posted August 12, 2000 Report Share Posted August 12, 2000 I recently posted this on the message board, but I guess it doesn't get a lot of traffic because there are no replies as of yet. Please respond via the list serve. Thank you. I heard about CHARGE today quite by accident. And I believe my daughter may have it. The only info that i haven't found anywhere is about chromosomal abnormalities. Since CHARGE is a syndrome, doesn't that denote a chromosomal problem? I had a fish run on my daughter when I became pregnant again, and all of her dna and chromosomes came back normal. She has a congenital heart disease called Tetralogy of Fallot, almond/hooded eyes that are small compared to my other two children, swallowing difficulties, her ears have a point at the top like spock ears that my other two children do not, her thumb is much smaller compared to the rest of her hand, small chin, small labia, hypotonia, developmentally delayed, sloping shoulders, and just had her first urinary tract infection so we are going for a renal ultrasound next week. From what i've read today, this sounds like CHARGE or a least a mild case of it if there is such a thing. I would appreciate hearing from other parents about this. Is this something I should call the doctor about tomorrow? Or wait until the next visit? Thank you. ) Orlando, Florida Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 12, 2000 Report Share Posted August 12, 2000 , Does your little girl have colobomas or choanal atresia? Those are 2 of the CHARGE characteristics which are red flags for CHARGE. There is no known genetic (chromosonal or dna) cause as of yet, they are working on it as we speak. Has your daughter been seen by a geneticist? I'd recommend seeing a geneticist if she hasn't already. Good luck, Mom to Kennedy 2.5yr old CHARGEr, 11, 9, and wife to GraemeNew Brunswick, CanadaVisit the "Weir homepage" at: http://www.geocities.com/SunsetStrip/Palms/5716ICQ #1426476 Re: message board I recently posted this on the message board, but I guess it doesn't get a lot of traffic because there are no replies as of yet. Please respond via the list serve. Thank you.I heard about CHARGE today quite by accident. And I believe my daughter may have it. The only info that i haven't found anywhere is about chromosomal abnormalities. Since CHARGE is a syndrome, doesn't that denote a chromosomal problem? I had a fish run on my daughter when I became pregnant again, and all of her dna and chromosomes came back normal. She has a congenital heart disease called Tetralogy of Fallot, almond/hooded eyes that are small compared to my other two children, swallowing difficulties, her ears have a point at the top like spock ears that my other two children do not, her thumb is much smaller compared to the rest of her hand, small chin, small labia, hypotonia, developmentally delayed, sloping shoulders, and just had her first urinary tract infection so we are going for a renal ultrasound next week. From what i've read today, this sounds like CHARGE or a least a mild case of it if there is such a thing. I would appreciate hearing from other parents about this. Is this something I should call the doctor about tomorrow? Or wait until the next visit? Thank you. )Orlando, Florida"5th CHARGE Syndrome International Conference, Indianapolis, Indiana, July20-22, 2001. Information will be available first in CHARGE Accounts, theCHARGE Syndrome Foundation's newsletter."For information about the CHARGE Syndrome Foundation or to become a member (and get the newsletter)please contact marion@... or visit the CHARGE Syndrome Foundation web page at http://www.chargesyndrome.org Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 12, 2000 Report Share Posted August 12, 2000 , In CHARGE the chromosomes are normal looking. There is much debate as to whether to call it an association (certain anomolies occur together) or a syndrome (a specific genetic cause). There are a lot of syndromes/associations out there, and yes, CHARGE can be very involved or only slightly involved (mild case). So it does take a physician who is very knowledgable about CHARGE to make a good diagnosis. In the meantime, feel free to be a part of our list. You get a sense of CHARGE and a lot of support. Tim Hartshorne, father of (11) with CHARGE, and others without. EleanasMom@... wrote: > I recently posted this on the message board, but I guess it doesn't get a lot > of traffic because there are no replies as of yet. Please respond via the > list serve. Thank you. > > I heard about CHARGE today quite by accident. And I believe my > daughter may have it. The only info that i haven't found > anywhere is about chromosomal abnormalities. Since CHARGE is a > syndrome, doesn't that denote a chromosomal problem? I had a > fish run on my daughter when I became pregnant again, and all of > her dna and chromosomes came back normal. She has a congenital > heart disease called Tetralogy of Fallot, almond/hooded eyes > that are small compared to my other two children, swallowing > difficulties, her ears have a point at the top like spock ears > that my other two children do not, her thumb is much smaller > compared to the rest of her hand, small chin, small labia, > hypotonia, developmentally delayed, sloping shoulders, and just > had her first urinary tract infection so we are going for a > renal ultrasound next week. From what i've read today, this > sounds like CHARGE or a least a mild case of it if there is such > a thing. I would appreciate hearing from other parents about > this. Is this something I should call the doctor about > tomorrow? Or wait until the next visit? Thank you. > > ) > Orlando, Florida > > > > " 5th CHARGE Syndrome International Conference, Indianapolis, Indiana, July > 20-22, 2001. Information will be available first in CHARGE Accounts, the > CHARGE Syndrome Foundation's newsletter. " > > For information about the CHARGE Syndrome > Foundation or to become a member (and get the newsletter) > please contact marion@... or visit > the CHARGE Syndrome Foundation web page > at http://www.chargesyndrome.org Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 12, 2000 Report Share Posted August 12, 2000 Hi! Sounds like your daughter needs to have a voiding cystourethrogram (VCUG) as well as the renal ultrasound. A renal ultrasound may not detect reflux from the bladder to the kidneys and if your daughter has had a urinary tract infection, it would be important for her to have this test. Vesicoureteral reflux is common in CHARGErs. CHARGE is likely due to a microdeletion and the gene has not yet been identified. Cheryl, , (6), (4, CHaRGE) MI >>> EleanasMom@... 08/12/00 08:17AM >>> I recently posted this on the message board, but I guess it doesn't get a lot of traffic because there are no replies as of yet. Please respond via the list serve. Thank you. I heard about CHARGE today quite by accident. And I believe my daughter may have it. The only info that i haven't found anywhere is about chromosomal abnormalities. Since CHARGE is a syndrome, doesn't that denote a chromosomal problem? I had a fish run on my daughter when I became pregnant again, and all of her dna and chromosomes came back normal. She has a congenital heart disease called Tetralogy of Fallot, almond/hooded eyes that are small compared to my other two children, swallowing difficulties, her ears have a point at the top like spock ears that my other two children do not, her thumb is much smaller compared to the rest of her hand, small chin, small labia, hypotonia, developmentally delayed, sloping shoulders, and just had her first urinary tract infection so we are going for a renal ultrasound next week. From what i've read today, this sounds like CHARGE or a least a mild case of it if there is such a thing. I would appreciate hearing from other parents about this. Is this something I should call the doctor about tomorrow? Or wait until the next visit? Thank you. ) Orlando, Florida " 5th CHARGE Syndrome International Conference, Indianapolis, Indiana, July 20-22, 2001. Information will be available first in CHARGE Accounts, the CHARGE Syndrome Foundation's newsletter. " For information about the CHARGE Syndrome Foundation or to become a member (and get the newsletter) please contact marion@... or visit the CHARGE Syndrome Foundation web page at http://www.chargesyndrome.org Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 12, 2000 Report Share Posted August 12, 2000 hi cheryl.... yes, the doc prescribed a VCUG with the renal ultrasound... but i hesitate to do it... Eleana has had eight heart surgeries and just about everything known to man.... i hate to have her cathed unless she was having recurrent infections or something showed on the ultrasound... she has just started (in the last few months) getting over her severe stranger anxiety (to the point of me thinking she was emotionally disturbed)... for the first two years of her three year life... everyone she saw stuck, poked, cut, prodded her... and i think that would just scare her to death... she is used to ultrasound from echoes and know that doesn't hurt... the last time they cathed her they used a neo butterfly and cut her on insertion... i just think it would be best to wait... if you stronly disagree, please let me know, i appreciate the advice. - - - sarah ) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 13, 2000 Report Share Posted August 13, 2000 , I would have the VCUG done to get the accurate information about the reflux. It doesn't show up on an ultrasound. In my opinion, the benefits of knowing outweigh the negative aspects. Mom to Kennedy 2.5yr old CHARGEr, 11, 9, and wife to GraemeNew Brunswick, CanadaVisit the "Weir homepage" at: http://www.geocities.com/SunsetStrip/Palms/5716ICQ #1426476 Re: message board hi cheryl.... yes, the doc prescribed a VCUG with the renal ultrasound... but i hesitate to do it... Eleana has had eight heart surgeries and just about everything known to man.... i hate to have her cathed unless she was having recurrent infections or something showed on the ultrasound... she has just started (in the last few months) getting over her severe stranger anxiety (to the point of me thinking she was emotionally disturbed)... for the first two years of her three year life... everyone she saw stuck, poked, cut, prodded her... and i think that would just scare her to death... she is used to ultrasound from echoes and know that doesn't hurt... the last time they cathed her they used a neo butterfly and cut her on insertion... i just think it would be best to wait... if you stronly disagree, please let me know, i appreciate the advice. - - - sarah )"5th CHARGE Syndrome International Conference, Indianapolis, Indiana, July20-22, 2001. Information will be available first in CHARGE Accounts, theCHARGE Syndrome Foundation's newsletter."For information about the CHARGE Syndrome Foundation or to become a member (and get the newsletter)please contact marion@... or visit the CHARGE Syndrome Foundation web page at http://www.chargesyndrome.org Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 13, 2000 Report Share Posted August 13, 2000 Hi , I would stongly recommend that she has the VCUG as it the ultrasound will not show up reflux and if left untreated kidney reflux can cause severe kidney damage. The test is not painful just a bit unpleasant. They will not cut her at all. They insert a catheter into her bladder via her vagina and inject dye to see if the urine flows back up the ureters to the kidney. My son Jack had this test and it showed up reflux (grade 2 & 3 ). He was asymptomatic and had never shown any signs of UTI but he had significant reflux. He also has bilateral kidney stones but that's another story!! Better safe than sorry. Our kids have to go through enough as it is without adding kidney damage to the list ;( Elaine mum to Elise (8yrs) & Jack (3yrs) CHaRGE Dumfries,Scotland Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 14, 2000 Report Share Posted August 14, 2000 Hi! I would recommend having the VCUG done. Vesicoureteral reflux can lead to kidney damage and a need for a kidney transplant. Reflux is frequently without signs of urinary tract infection (silent, but deadly). Both of our kids had silent reflux, but were detected by VCUG, treated prophylactically, and have no kidney damage. Yeah, the procedure is not pleasant, but it is fast and would not ever need to be repeated if she was not refluxing. However, if she is refluxing, you will be thankful that you know and can prevent damage. Cheryl, , (6), (4, CHaRGE) MI >>> EleanasMom@... 08/12/00 06:38PM >>> hi cheryl.... yes, the doc prescribed a VCUG with the renal ultrasound... but i hesitate to do it... Eleana has had eight heart surgeries and just about everything known to man.... i hate to have her cathed unless she was having recurrent infections or something showed on the ultrasound... she has just started (in the last few months) getting over her severe stranger anxiety (to the point of me thinking she was emotionally disturbed)... for the first two years of her three year life... everyone she saw stuck, poked, cut, prodded her... and i think that would just scare her to death... she is used to ultrasound from echoes and know that doesn't hurt... the last time they cathed her they used a neo butterfly and cut her on insertion... i just think it would be best to wait... if you stronly disagree, please let me know, i appreciate the advice. - - - sarah ) " 5th CHARGE Syndrome International Conference, Indianapolis, Indiana, July 20-22, 2001. Information will be available first in CHARGE Accounts, the CHARGE Syndrome Foundation's newsletter. " For information about the CHARGE Syndrome Foundation or to become a member (and get the newsletter) please contact marion@... or visit the CHARGE Syndrome Foundation web page at http://www.chargesyndrome.org Quote Link to comment Share on other sites More sharing options...
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