Guest guest Posted August 22, 2001 Report Share Posted August 22, 2001 Hi, I have 4 month old twins (6 weeks adjusted age), one of which a genetecist labeled CHARGE. We have our doubts, though. Here is what he has: Retinal coloboma on right side (dr says it's small and won't impact his vision) Ear anomoly on right side (though not the cup shape or lop shape I'v been hearing CHARGE kids have) and so far no hearing in either side ( his good ear has fluid though and a tube will be placed in Sept) Cleft lip and palate Hemifacial microsomia on right side Hemivertebrae He has gained weight right along with his twin since birth, and physically he seems to be at or ahead of where he should be for his age (he rolls over, can hold up his head, pushes up on his arms when placed on his tummy). Mentally it's hard to assess this early: he does follow faces and objects, knows how to eat proficiently despite the cleft. My question is- can this be CHARGE with so few of the characteristics? And how early can physical and mental developmental delays be identified? We just want to know what our son has (the other candidate a dr told us is Goldenhar's Syndrome). Jen Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 23, 2001 Report Share Posted August 23, 2001 Hi Jen and welcome to the group. You will find a lot of people here that are very kind and will offer whatever advice they can. Can it be CHARGE? yes, it can. Not all Charger's have the same degree of symptoms. And he does have some of the signs of charge. Not all Chargers have swallowing problems some develop with no intellectually handicap, and some with no or next to no physically limitations. I know this doesn't help much but, stay with the group and you'll learn a lot. ...Mom to 9 3/4 yrs. old ChARger, wife to Steve, master to Nikita German Sheppard > > Hi, I have 4 month old twins (6 weeks adjusted age), one of which a > genetecist labeled CHARGE. We have our doubts, though. Here is what > he has: > > Retinal coloboma on right side (dr says it's small and won't impact > his vision) > > Ear anomoly on right side (though not the cup shape or lop shape I'v > been hearing CHARGE kids have) and so far no hearing in either side > ( his good ear has fluid though and a tube will be placed in Sept) > > Cleft lip and palate > > Hemifacial microsomia on right side > > Hemivertebrae > > He has gained weight right along with his twin since birth, and > physically he seems to be at or ahead of where he should be for his > age (he rolls over, can hold up his head, pushes up on his arms when > placed on his tummy). Mentally it's hard to assess this early: he > does follow faces and objects, knows how to eat proficiently despite > the cleft. > > My question is- can this be CHARGE with so few of the > characteristics? And how early can physical and mental developmental > delays be identified? > > We just want to know what our son has (the other candidate a dr told > us is Goldenhar's Syndrome). > > Jen > > > > Membership of this email support groups 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 CHARGE Syndrome Foundation web page > at http://www.chargesyndrome.org > 6th International CHARGE Syndrome Conference, Cleveland, Ohio, > July 25-27, 2003. Information will be available at our website > www.chargesyndrome.org or by calling 1-. > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted August 23, 2001 Report Share Posted August 23, 2001 Jen, Welcome to the list and congrats on the new twins! RE: the diagnosis: I have a friend who has a little girl with Goldenhar's and I don't believe colobomas are a part of that syndrome. The coloboma is what would " red flag " the CHARGE dx. Also, not to scare you but sometimes ALL the symptoms are not right there at that early of an age. Sometimes, things pop up later that you didn't know about at first and they can end up having more of the diagnostic criteria than first thought. Glad to hear things are going well with weight, etc. You said he has no hearing in either ear, are they planning on aiding him soon? Mom to Kennedy 3.5yr old CHARGEr, 12, 10, and wife to Graeme New Brunswick, Canada Visit the " Weir homepage " at: http://www.geocities.com/SunsetStrip/Palms/5716 ICQ #1426476 new here... Hi, I have 4 month old twins (6 weeks adjusted age), one of which a genetecist labeled CHARGE. We have our doubts, though. Here is what he has: Retinal coloboma on right side (dr says it's small and won't impact his vision) Ear anomoly on right side (though not the cup shape or lop shape I'v been hearing CHARGE kids have) and so far no hearing in either side ( his good ear has fluid though and a tube will be placed in Sept) Cleft lip and palate Hemifacial microsomia on right side Hemivertebrae He has gained weight right along with his twin since birth, and physically he seems to be at or ahead of where he should be for his age (he rolls over, can hold up his head, pushes up on his arms when placed on his tummy). Mentally it's hard to assess this early: he does follow faces and objects, knows how to eat proficiently despite the cleft. My question is- can this be CHARGE with so few of the characteristics? And how early can physical and mental developmental delays be identified? We just want to know what our son has (the other candidate a dr told us is Goldenhar's Syndrome). Jen Quote Link to comment Share on other sites More sharing options...
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