Guest guest Posted March 28, 2006 Report Share Posted March 28, 2006 Chantelle, Thanks for sharing your experience about your brother. We can only hope and pray for such an experience as well. But like you said, we do know from experience with Peyton we will be blessed beyond belief no matter what happens with Tate. Corrie mom to Peyton, 9 CHARGE, Cy 6, 3 and Tate unborn RE: Ultrasound >> >> >> > Corrie- >> > I do hope your team comes to the conference. I expect it to be a >> > wonderful >> > experience -- 3 days with Meg and at our fingertips!! My part >> will >> > be >> > to add a " case study " to the CHARGE overview to help us bring some >> reality >> > to the picture and to help teams begin to understand the reality of >> their >> > own student. >> > >> > I didn't realize you had some warning about Peyton's issues before >> birth. >> > Aubrie's were all a big shock. I guess there are pros and cons to >> having >> > warning. >> > >> > My mother-in-law and I were just talking about something similar. My >> > brother-in-law who is my age (42) is expecting his first child. When >> > my >> > mil >> > was our age, my husband and I were married! There are pros and cons to >> > having children earlier or having them younger -- just as there are >> > pros >> > and >> > cons to knowing things in advance or not knowing. We decided it's best >> to >> > embrace the pros of your situation because you can't change the cons. >> > >> > Michele W >> > mom to Aubrie 8 yrs CHARGE, 14 yrs and wife to DJ >> > >> > >> > >> > CHARGE SYNDROME LISTSERV PHOTO PAGE: >> > http://www.imagestation.com/album/?id=2117043995 >> > >> > Membership of this email support group does not constitute membership >> > in >> > the CHARGE Syndrome Foundation; 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 >> > >> > 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 28, 2006 Report Share Posted March 28, 2006 , Let me see if I can possibly clarify here. I met with Corrie and Mike after the fetal echo yesterday. Corrie had her initial ultrasound last week and an amniocentesis - the results of the amino will tell us if the baby has a chromsome abnormality such as Down syndrome or del22q11 (VCF). If either of those tests are positive, then we have an explanation, and it probably is not CHARGE. However, if those tests are negative, then we are left with 1) ultrasound findings of a heart defect, cleft lip and fluid in the kidneys and 2) family history of a previous child with CHARGE syndrome. In someone with no family history of CHARGE syndrome, I would still consider CHARGE as one of the possible explanations of those ultrasound findings and probably give the family a 5-10% chance it was CHARGE. If it were only cleft lip and palate (as was seen in Cameron), I would give a lower chance of it being due to CHARGE. , most prenatal diagnosis places are only beginning to realize CHARGE should be on the list of things being considered - I'm not surprised they didn't mention it to you. I know better! Other possibliites include other syndromes and a baby randomly having several birth defects without it being a syndrome. Because there IS a family history of CHARGE, it has to move up on the list of possiblities. It is not by any means a certainty - lots of other things can result in cleft lip and heart defect. But overall, as I told Corrie and Mike, if the amino does not give an explantion, my educated guess is that there is a 50% chance the ultrasound findings are due to CHARGE and a 50% cahnce they are due to something else. Yes, the recurrence risk for a family with one child with CHARGE is only about 1%. But someone will be that 1%. Because the ultrasound findings are things that can be seen in children with CHARGE, our level of suspicion goes way up. Numbers can get VERY confusing. If any of this is still muddled, let me know and I'll try again. Meg Meg Hefner MS Genetic Counselor, St. Louis MO meg@... > > Corrie, > > I'm surprised that the odds of Tate having CHARGE is as high as 50%. I > thought that a person with CHARGE has a 50/50 chance of passing CHARGE > to his children. And that if the parents of a child with CHARGE had > another child the odds of that child having CHARGE would be less than 5%. > > Am I wrong? Or are the odds higher because of the things that have > been identified by ultrasound. Our son Cameron (who has CHARGE) was > diagnosed in utero with bilateral cleft lip/palate. The possibility of > him having CHARGE was never discussed as a possibility during our > pregnancy. And we even had a prenatal visit at our local Children's > hospital with the cranial facial team to discuss the cleft. BTW, our > oldest child is typical. > > Please keep us posted about the ultrasound. Your family will be in my > prayers. > > > Mom to Cameron 4 (CHARGE) and 5 3/4 > Quote Link to comment Share on other sites More sharing options...
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