Guest guest Posted November 4, 2005 Report Share Posted November 4, 2005 Greetings from Ireland!! And welcome! I have a CHARGE baby, Little Warrior AIDAN, who's almost 7 months old now. He was tube-fed his first 6 months but now he's with the bottle, little by little, for the first time ever. He has a few problems (left nostril blocked, hearing loss, balance system missing, murmur in his heart, colobomas in noth eyes..) but we're working on it.. Slowly but surely! Keep us please updated about your nephew!! (what's his name? how's he doing at the moment?) All the best from Galway!! Pat, mum to Aidan (almost 7 motnhs old, 10 wks prem) - EIRE > > Just saying hi, my 3 yr old nephew has CHARGE, Goldenhar, Moebius & an > unnamed 4th syndrome, I look forward to learning and sharing info. > with everyone > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 4, 2005 Report Share Posted November 4, 2005 Hi thanks for the warm welcome, wow 7 mo. old, that seems like so long ago, also like yesterday in some ways, glad to hear he's taking a bottle, Brady, my nephew, has not ever been able to. I love to talk about Brady but my sister, his mom, is the real expert, he has CHARGE, coloboma of both optic nerves, he sees pretty good with one eye, not so well with the other, he had a pda, and vascular rings, no artresia, small but working fine kidneys, microgenitalia, and the ear things, malformed, and profoundly deaf, he has had a tracheostomy since he was about 13 or 14 months old, he is fed through a mic-key (tummy tube)he also, has some other characteristics like " funky " toes on one foot one of the toes sits on the other, a form of webbing, and the palm crease, his balance is also off, along with GHARGE, he has Goldenhar, which is similar so I can't tell you which characteristics belong to that,except the hemifacial microsomia (asymetrical face) but also, Moebius which gave him full facial paralysis, no smile, no blinking, etc., we had been told that he may be blind, deaf, never walk, etc, but now at 3 he is walking, he is almost completely deaf but, he is learning to sign, and understands alot of signs, he is in regular school 2 days a week and a preschool for the deaf 3 days a week, he is the biggest camera ham and a very happy and loving little boy! He has 2 big brothers 11 and 5 and his oh so special aunti paige! Thanks for letting me tell you about him, they have recently made contact with dr. zucker about the smile surgery in toronto, we are in Oklahoma. > > > > Just saying hi, my 3 yr old nephew has CHARGE, Goldenhar, Moebius > & an > > unnamed 4th syndrome, I look forward to learning and sharing info. > > with everyone > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 5, 2005 Report Share Posted November 5, 2005 welcom from aus ive got colibomas ears we \ve been told many things ingcuding that im dum and stuff im as bright as a button ive got tummy probas to im 20 id love to tell yuou more but we are going to our holiday house anyway lovely meeting you and have fun learning all about us and charge and passing on info to the wonderful parents which of course is the best hugs ellen from aus > > Hi thanks for the warm welcome, wow 7 mo. old, that seems like so > long ago, also like yesterday in some ways, glad to hear he's taking > a bottle, Brady, my nephew, has not ever been able to. I love to > talk about Brady but my sister, his mom, is the real expert, he has > CHARGE, coloboma of both optic nerves, he sees pretty good with one > eye, not so well with the other, he had a pda, and vascular rings, > no artresia, small but working fine kidneys, microgenitalia, and the > ear things, malformed, and profoundly deaf, he has had a > tracheostomy since he was about 13 or 14 months old, he is fed > through a mic-key (tummy tube)he also, has some other > characteristics like " funky " toes on one foot one of the toes sits > on the other, a form of webbing, and the palm crease, his balance is > also off, along with GHARGE, he has Goldenhar, which is similar so I > can't tell you which characteristics belong to that,except the > hemifacial microsomia (asymetrical face) but also, Moebius which > gave him full facial paralysis, no smile, no blinking, etc., we had > been told that he may be blind, deaf, never walk, etc, but now at 3 > he is walking, he is almost completely deaf but, he is learning to > sign, and understands alot of signs, he is in regular school 2 days > a week and a preschool for the deaf 3 days a week, he is the biggest > camera ham and a very happy and loving little boy! He has 2 big > brothers 11 and 5 and his oh so special aunti paige! Thanks for > letting me tell you about him, they have recently made contact with > dr. zucker about the smile surgery in toronto, we are in Oklahoma. > > > > > > > > > > > Just saying hi, my 3 yr old nephew has CHARGE, Goldenhar, > Moebius > > & an > > > unnamed 4th syndrome, I look forward to learning and sharing > info. > > > with everyone > > > > > > > > > > > > > > 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 - for CHARGE Syndrome Canada > information and membership, please visit http://www.chargesyndrome.ca or > email info@... . > 8th International > CHARGE Syndrome Conference, July, 2007. Information will be available at > www.chargesyndrome.org <http://www.chargesyndrome.org> or by calling > 1-. > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 5, 2005 Report Share Posted November 5, 2005 Hi, I'm a genetic counselor with the CHARGE Syndrome Foundation – so I know tons about CHARGE and lots about other syndromes like Goldenhar and Moebius. It is very likely that your nephew has only one diagnosis: CHARGE syndrome. CHARGE is so9 very complex that it can involve nearly every organ system in the body. Goldenhar and Moebius are other syndromes which overlap a lot with CHARGE. If a child ONLY has problems with cranial nerves, he would be likely to get a diagnosis of Moebius. If a child has one side of he face small, a missing ear (on the small side) and a few other problems, he may get a diagnosis of Goldenhar. There is almost nothing in either of those diagnoses which isn't covered by all the possible (and in fact likely) things that can be part of CHARGE. Everything you described about you nephew can be explained by CHARGE. Lots of kids with CHARGE go through a bunch of " possible " diagnoses before CHARGE is settled on – maybe Goldenhar, VATER, 22q deletion syndrome, Kallman syndrome. Di sequence… there are many with overlapping features. But if a child has CHARGE, he or she probably doesn't have any of those others. Just to prove nothing is absolute, there is a child in the Netherlands with BOTH the CHD7 gene that causes CHARGE and the 22q11 deletion! But that is the only one in the world I know of who truly has BOTH diagnoses. Does your family have the Manual from the Foundation? Check out the Foundation website www.chargesynndrome.org Has your family met the other family in Oklahoma who have been checking out things about facial palsy? They also come to St. Louis for that. I'm not sure if they are currently getting mail from the list. If you are interested in getting in touch, email me privately and I'll pass your email on to them. Meg Meg Hefner MS Genetic Counselor St. Louis, MO meg@... > > Just saying hi, my 3 yr old nephew has CHARGE, Goldenhar, Moebius & an > unnamed 4th syndrome, I look forward to learning and sharing info. > with everyone > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 5, 2005 Report Share Posted November 5, 2005 Hey Meg, Wasnt there a child in Australia (or New Zealand) that had trisomny of something and charge? I just remembered about this little guy down there. Chantelle Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 6, 2005 Report Share Posted November 6, 2005 Chantelle - maybe, I sometimes don't remember those details as well as you seem to! There is one guy (can't remeber where he lives) who has partial trisomy 18 and lots of CHARGE-like features. Over the years, we've had people on the list and at conference who had things other than " classic CHARGE " - and of course we welcome anyone who finds help and support through the CHARGE community. Meg > > Hey Meg, > > Wasnt there a child in Australia (or New Zealand) that had trisomny of > something and charge? I just remembered about this little guy down > there. > > Chantelle > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 6, 2005 Report Share Posted November 6, 2005 Hi Meg and others! You mentioned something about a family looking into facial palsy...I have heard there are some experimental surgeries to correct the palsy, is that correct? Do you know of anyone who has had this done? My son has facial palsy on one side...at this time in life (he is only 4 months old), it is not that obvious but I know it will be as he gets older and smiles, talks, etc. I know in the big scheme of things, it is so minor...but wow, wouldn't that be amazing if it is " fixable. " Our craniofacial doctor at Children's mentioned there was a possible surgery...we of course would wait until later in childhood to perform...but that again it was experimental. I would love to hear from you or anyone else who knows anything about this. Thanks so much! Meg Hefner wrote: Hi, I'm a genetic counselor with the CHARGE Syndrome Foundation – so I know tons about CHARGE and lots about other syndromes like Goldenhar and Moebius. It is very likely that your nephew has only one diagnosis: CHARGE syndrome. CHARGE is so9 very complex that it can involve nearly every organ system in the body. Goldenhar and Moebius are other syndromes which overlap a lot with CHARGE. If a child ONLY has problems with cranial nerves, he would be likely to get a diagnosis of Moebius. If a child has one side of he face small, a missing ear (on the small side) and a few other problems, he may get a diagnosis of Goldenhar. There is almost nothing in either of those diagnoses which isn't covered by all the possible (and in fact likely) things that can be part of CHARGE. Everything you described about you nephew can be explained by CHARGE. Lots of kids with CHARGE go through a bunch of " possible " diagnoses before CHARGE is settled on – maybe Goldenhar, VATER, 22q deletion syndrome, Kallman syndrome. Di sequence… there are many with overlapping features. But if a child has CHARGE, he or she probably doesn't have any of those others. Just to prove nothing is absolute, there is a child in the Netherlands with BOTH the CHD7 gene that causes CHARGE and the 22q11 deletion! But that is the only one in the world I know of who truly has BOTH diagnoses. Does your family have the Manual from the Foundation? Check out the Foundation website www.chargesynndrome.org Has your family met the other family in Oklahoma who have been checking out things about facial palsy? They also come to St. Louis for that. I'm not sure if they are currently getting mail from the list. If you are interested in getting in touch, email me privately and I'll pass your email on to them. Meg Meg Hefner MS Genetic Counselor St. Louis, MO meg@... > > Just saying hi, my 3 yr old nephew has CHARGE, Goldenhar, Moebius & an > unnamed 4th syndrome, I look forward to learning and sharing info. > with everyone > 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 - for CHARGE Syndrome Canada information and membership, please visit http://www.chargesyndrome.ca or email info@... . 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 November 6, 2005 Report Share Posted November 6, 2005 meg and chantelle julia patterson has di geroge and charge maybe thats who your thinking of aarie patterson has been on the lsit i think and shes on the foundation her and mum talk sometimes hugs ellen from downtown aus lol > > Hi Meg and others! > > You mentioned something about a family looking into facial palsy...I have > heard there are some experimental surgeries to correct the palsy, is that > correct? Do you know of anyone who has had this done? My son has facial > palsy on one side...at this time in life (he is only 4 months old), it is > not that obvious but I know it will be as he gets older and smiles, talks, > etc. I know in the big scheme of things, it is so minor...but wow, wouldn't > that be amazing if it is " fixable. " Our craniofacial doctor at Children's > mentioned there was a possible surgery...we of course would wait until later > in childhood to perform...but that again it was experimental. > > I would love to hear from you or anyone else who knows anything about > this. Thanks so much! > > > Meg Hefner wrote: > Hi, > I'm a genetic counselor with the CHARGE Syndrome Foundation – so I > know tons about CHARGE and lots about other syndromes like Goldenhar > and Moebius. It is very likely that your nephew has only one > diagnosis: CHARGE syndrome. CHARGE is so9 very complex that it can > involve nearly every organ system in the body. Goldenhar and Moebius > are other syndromes which overlap a lot with CHARGE. If a child ONLY > has problems with cranial nerves, he would be likely to get a > diagnosis of Moebius. If a child has one side of he face small, a > missing ear (on the small side) and a few other problems, he may get a > diagnosis of Goldenhar. There is almost nothing in either of those > diagnoses which isn't covered by all the possible (and in fact likely) > things that can be part of CHARGE. Everything you described about you > nephew can be explained by CHARGE. > > Lots of kids with CHARGE go through a bunch of " possible " diagnoses > before CHARGE is settled on – maybe Goldenhar, VATER, 22q deletion > syndrome, Kallman syndrome. Di sequence… there are many with > overlapping features. But if a child has CHARGE, he or she probably > doesn't have any of those others. Just to prove nothing is absolute, > there is a child in the Netherlands with BOTH the CHD7 gene that > causes CHARGE and the 22q11 deletion! But that is the only one in the > world I know of who truly has BOTH diagnoses. > > Does your family have the Manual from the Foundation? Check out the > Foundation website www.chargesynndrome.org<http://www.chargesynndrome.org> > > Has your family met the other family in Oklahoma who have been > checking out things about facial palsy? They also come to St. Louis > for that. I'm not sure if they are currently getting mail from the > list. If you are interested in getting in touch, email me privately > and I'll pass your email on to them. > Meg > > Meg Hefner MS > Genetic Counselor > St. Louis, MO > meg@... > > > > > > > > Just saying hi, my 3 yr old nephew has CHARGE, Goldenhar, Moebius & an > > unnamed 4th syndrome, I look forward to learning and sharing info. > > with everyone > > > > > > > > > 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 - for CHARGE Syndrome Canada > information and membership, please visit http://www.chargesyndrome.ca or > email info@... . > 8th International > CHARGE Syndrome Conference, July, 2007. Information will be available at > www.chargesyndrome.org <http://www.chargesyndrome.org> or by calling > 1-. > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted November 7, 2005 Report Share Posted November 7, 2005 Hi thanx for the welcome, I live about 2 hours from Brady and the rest of my family, not too far, I do participate as much as possible, the first 2 years were the most medically fragile for him and I was there every weekend and for every surgery, he is much better now, so I only go 1 or 2 times a month, but always if he is in the hosp. sick or for surgery and for all special occassions. > > > > > > > > Just saying hi, my 3 yr old nephew has CHARGE, Goldenhar, > > Moebius > > > & an > > > > unnamed 4th syndrome, I look forward to learning and sharing > > info. > > > > with everyone > > > > > > > > > > > > > > > > > > > > > > > > > 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@c... or visit > > the web site at http://www.chargesyndrome.org - for CHARGE Syndrome Canada > > information and membership, please visit http://www.chargesyndrome.ca or > > email info@c... . > > 8th International > > CHARGE Syndrome Conference, July, 2007. Information will be available at > > www.chargesyndrome.org <http://www.chargesyndrome.org> or by calling > > 1-. > > Quote Link to comment Share on other sites More sharing options...
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