Guest guest Posted January 14, 2007 Report Share Posted January 14, 2007 My granddaughter was born with CHARGE - she is 4 months old and has been hospitalized 5 times with various viruses, infections, etc. I need help to convince my daughter that she does have CHARGE. She believes since it can't be 100% diagnosed, she might not have it. She has 5 of the 6 symptoms. Can anyone steer me to some simple well- informed information that would help? Thanks Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 14, 2007 Report Share Posted January 14, 2007 The best source of information is the CHARGE Syndrome foundation website. The link comes up in the tiny print at the bottom of every list-serve email you get, but here is the link: http://www.chargesyndrome.org This has the current criteria for diagnosis (good because I know when my son was first diagnosed a year and a half ago, most of the information his doctors gave me had the old critera). Even though one gene has been identified, not everyone with CHARGE tests positive--the diagnosis is still based on clinical findings. I'm sure your daughter is still dealing with the shock of having a child that is not at all like she imagined. If she was like most of the parents on the list, she probably had no idea anything was a miss until after your grand-daughter was born. Denial is normal--I know I have gone through my fair share of it. It's hard to read about CHARGE Syndrome (because all of what you read is basically worst-case scenario) and then apply that to your little baby. But having a diagnosis is so helpful--I know lots of parents who have kids that have " something " but they never get a name for it. Knowing it is CHARGE will help the doctors caring for your grand-daughter because they have a lists of things to look out for.. (mom to Evan, 18 months) ejamos wrote: My granddaughter was born with CHARGE - she is 4 months old and has been hospitalized 5 times with various viruses, infections, etc. I need help to convince my daughter that she does have CHARGE. She believes since it can't be 100% diagnosed, she might not have it. She has 5 of the 6 symptoms. Can anyone steer me to some simple well- informed information that would help? Thanks --------------------------------- Get your own web address. Have a HUGE year through Yahoo! Small Business. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 14, 2007 Report Share Posted January 14, 2007 Hello, Has the geneticist stopped in to see your granddaughter when she has been hospitalized? If you happen to be in the Saint Louis area, Meg Hefner, the Genetics Counselor associated with The CHARGE Syndrome Foundation, would be available locally to talk with your daughter. She is also available by e-mail at meg@... The CHARGE Syndrome Foundation website: http://www.chargesyndrome.org has clear information available. Is your daughter aware of the blood test available to look for the CHARGE related gene that has been identified so far? The presence of the genetic information makes the diagnosis clear. It is suspected there may be other genes as well, but the finding of this gene would confirm a diagnosis. Tests can be performed by sending blood to the associated lab at Baylor University in Texas as well as European, (Dutch), labs as far as I know. Is it possible your daughter just needs more time to consider the possibilities and enjoy her baby without the pressure of having a syndrome and all that is associated with that kind of information? Is there an immediate need to actually know if it is CHARGE or not? That is, do you feel that better medical care would result from the information? I just ask because we are all so different. I am the kind of person who wants to know anything and everything about any possible condition that is mentioned. It gives me relief and comfort to learn what I can. Once filled with information, I can move forward or not as the situation warrants for our circumstances. But many people do not want to hear about possible scenarios unless they are totally confirmed or until they wish to look into the issues. That's the beauty of each of us, and the way we are created, and the way we manifest our own personalities and hopes and dreams. Perhaps when the time is right for your daughter to pursue these kinds of answers, she will be eager to do so. Maybe waiting for that moment is not such a bad thing. Mom to Kendra - CHARGE, and Camille wkeedy@... need info My granddaughter was born with CHARGE - she is 4 months old and has been hospitalized 5 times with various viruses, infections, etc. I need help to convince my daughter that she does have CHARGE. She believes since it can't be 100% diagnosed, she might not have it. She has 5 of the 6 symptoms. Can anyone steer me to some simple well- informed information that would help? Thanks Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 14, 2007 Report Share Posted January 14, 2007 u have enough for it to be charge so go with it > > Hello, > > Has the geneticist stopped in to see your granddaughter when she has been > hospitalized? > > If you happen to be in the Saint Louis area, Meg Hefner, the Genetics > Counselor associated with The CHARGE Syndrome Foundation, would be available > locally to talk with your daughter. She is also available by e-mail at > meg@... <meg%40chargesyndrome.org> The CHARGE Syndrome > Foundation website: http://www.chargesyndrome.org has clear information > available. > > Is your daughter aware of the blood test available to look for the CHARGE > related gene that has been identified so far? The presence of the genetic > information makes the diagnosis clear. It is suspected there may be other > genes as well, but the finding of this gene would confirm a diagnosis. Tests > can be performed by sending blood to the associated lab at Baylor University > in Texas as well as European, (Dutch), labs as far as I know. > > Is it possible your daughter just needs more time to consider the > possibilities and enjoy her baby without the pressure of having a syndrome > and all that is associated with that kind of information? Is there an > immediate need to actually know if it is CHARGE or not? That is, do you feel > that better medical care would result from the information? > > I just ask because we are all so different. I am the kind of person who > wants to know anything and everything about any possible condition that is > mentioned. It gives me relief and comfort to learn what I can. Once filled > with information, I can move forward or not as the situation warrants for > our circumstances. But many people do not want to hear about possible > scenarios unless they are totally confirmed or until they wish to look into > the issues. That's the beauty of each of us, and the way we are created, and > the way we manifest our own personalities and hopes and dreams. > > Perhaps when the time is right for your daughter to pursue these kinds of > answers, she will be eager to do so. Maybe waiting for that moment is not > such a bad thing. > > > Mom to Kendra - CHARGE, and Camille > wkeedy@... <wkeedy%40earthlink.net> > > need info > > My granddaughter was born with CHARGE - she is 4 months old and has > been hospitalized 5 times with various viruses, infections, etc. I > need help to convince my daughter that she does have CHARGE. She > believes since it can't be 100% diagnosed, she might not have it. She > has 5 of the 6 symptoms. Can anyone steer me to some simple well- > informed information that would help? Thanks > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 14, 2007 Report Share Posted January 14, 2007 I know this might be difficult, but she might not be ready to hear it. Having a diagnosis is not the end all. It does not " cure " it. As long as she is doing her best to care for her child, and get the treatments and therapies she needs, she is going in the right direction. I recall it being very intimidating hearing all of my daughters problems when she was born, and I knew she would have problems when I was 4 months pregnant. You may have better luck supplying some info to one of the doctors, but not so he/she could diagnose it, but so that he/she could check on some of the other " problems " associated with CHARGE. There are some things, like adrenal insufficiency, I would have liked to know about earlier. And pray. I will pray for your granddaughter's health and your daughter's strength and enlightenment. Paz, mother of Caitlyn (13yod), Rebekah (9yod CHaRGEr), and Colton (7yos) need info My granddaughter was born with CHARGE - she is 4 months old and has been hospitalized 5 times with various viruses, infections, etc. I need help to convince my daughter that she does have CHARGE. She believes since it can't be 100% diagnosed, she might not have it. She has 5 of the 6 symptoms. Can anyone steer me to some simple well- informed information that would help? Thanks Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 14, 2007 Report Share Posted January 14, 2007 First off, I would contact the CHARGE Syndrome Foundation ( www.chargesyndrome.org) . There is a definite genetic diagnosis that can be made now, but with a caveat. Mutations on the gene CHD7 have been identified in individuals with CHARGE (which can be tested for); however, a negative diagnosis does not preclude one from having CHARGE. The genetic discovery is extremely new and it is felt that there will be many more findings with regard to the genetic causation. Congratulations on your new granddaughter... Hugs from Canada, www.chargesyndrome.info > > My granddaughter was born with CHARGE - she is 4 months old and has > been hospitalized 5 times with various viruses, infections, etc. I > need help to convince my daughter that she does have CHARGE. She > believes since it can't be 100% diagnosed, she might not have it. She > has 5 of the 6 symptoms. Can anyone steer me to some simple well- > informed information that would help? Thanks > > > -- " It is far better to grasp the universe as it really is than to persist in delusion, however satisfying and reassuring. " --Carl Sagan Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 15, 2007 Report Share Posted January 15, 2007 and u can download the manual form there to its great > > First off, I would contact the CHARGE Syndrome Foundation ( > www.chargesyndrome.org) . There is a definite genetic diagnosis that can > be > made now, but with a caveat. Mutations on the gene CHD7 have been > identified in individuals with CHARGE (which can be tested for); however, > a > negative diagnosis does not preclude one from having CHARGE. The genetic > discovery is extremely new and it is felt that there will be many more > findings with regard to the genetic causation. > Congratulations on your new granddaughter... > Hugs from Canada, > > www.chargesyndrome.info > > > > > > My granddaughter was born with CHARGE - she is 4 months old and has > > been hospitalized 5 times with various viruses, infections, etc. I > > need help to convince my daughter that she does have CHARGE. She > > believes since it can't be 100% diagnosed, she might not have it. She > > has 5 of the 6 symptoms. Can anyone steer me to some simple well- > > informed information that would help? Thanks > > > > > > > > -- > " It is far better to grasp the universe as it really is than to persist in > delusion, however satisfying and reassuring. " --Carl Sagan > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 16, 2007 Report Share Posted January 16, 2007 welcome to the group, love to hear more about your baby!!! hope to talk to ya soon. chrystal arleigh-4 chrystine-15 mos. CHaRGE silas-3.5 mos. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 16, 2007 Report Share Posted January 16, 2007 Hello. I have an 8 mo old baby that is diagnosed with CHARGE. She wasn't diagnosed until 6 mo after birth. The doctors had already told me after her first surgery that all the things that she has are related to this syndrome called CHARGE. I didn't know what that meant. She tried to explain it to me but I was confused. I thought it was my fault for skipping my prenatal pills sometimes, I just cried. It was very hard. My daughter was in the hosp for about 3 mo after birth. I look at her now, and thank the Lord because I believe that everything happens for a reason. - -- In CHARGE , " ellen howe " wrote: > > and u can download the manual form there to its great > > > > > > First off, I would contact the CHARGE Syndrome Foundation ( > > www.chargesyndrome.org) . There is a definite genetic diagnosis that can > > be > > made now, but with a caveat. Mutations on the gene CHD7 have been > > identified in individuals with CHARGE (which can be tested for); however, > > a > > negative diagnosis does not preclude one from having CHARGE. The genetic > > discovery is extremely new and it is felt that there will be many more > > findings with regard to the genetic causation. > > Congratulations on your new granddaughter... > > Hugs from Canada, > > > > www.chargesyndrome.info > > > > > > > > > > My granddaughter was born with CHARGE - she is 4 months old and has > > > been hospitalized 5 times with various viruses, infections, etc. I > > > need help to convince my daughter that she does have CHARGE. She > > > believes since it can't be 100% diagnosed, she might not have it. She > > > has 5 of the 6 symptoms. Can anyone steer me to some simple well- > > > informed information that would help? Thanks > > > > > > > > > > > > > -- > > " It is far better to grasp the universe as it really is than to persist in > > delusion, however satisfying and reassuring. " --Carl Sagan > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 16, 2007 Report Share Posted January 16, 2007 Elvia- I'm so glad you have joined our online CHARGE family! I'm sorry for your initial confusion, guilt, and pain. I imagine that all of the other moms on here can relate. I didn't realize how badly I was feeling until I went to my first CHARGE conference, met all the fabulous CHARGE families, and went up to our hotel room and sobbed. Seeing all of them, seeing that they were " ok " , realizing that they were valuable people --- well, I sobbed to finally see evidence that my family and I were ok and valuable too. It was a huge moment for me. We may not ever understand the reason for all the things that happen in our lives, but they are there none-the-less. I used to think that people who said their child with a disability was a blessing were just full of it. You know, trying to fool themselves. But soon enough I learned of all the blessings that come with this. Are there heartaches and sorrows?? Sure. But there are loads of blessings too! I look forward to getting to know you and your daughter. Michele W mom to Aubrie 9 yrs CHaRgE and 15 yrs, wife to DJ Quote Link to comment Share on other sites More sharing options...
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