Guest guest Posted October 5, 2005 Report Share Posted October 5, 2005 Hi Pat, Meg Hefner, Genetic Counselor here. Let me see if I can unscramble some of this for you. 1) CHARGE syndrome and Hall-Hittner: they are one and the same. HH just means really, truly, no question about it CHARGE, as opposed to " we think it's CHARGE, but not absolutely sure. " Dr. Hall and Dr. Hittner were some of the first doctors (in 1979 or so) to recognize that the features of what was later named CHARGE (in 1981) go together. 2) the one CHARGE gene that has been discovered (there may be more out there) is named CHD7, but it is on chromosome #8. It is a single gene, not a missing part of a chromosome. The overwhelming majority of children with CHARGE do not have a deletion anywehre in their chromosomes. 3) the FISH test for CHARGE is pretty worthless. FISH (fluorescent in-situ hybridization) of the CHD7 region on chromsome #8 will only pick up about 10% of kids with CHARGE. It is sometimes done because it is relatively inexpensive and pushed by some labs. 4) the better gene test for CHARGE is DNA sequencing. It is FAR more expensive and complicated than FISH, but mutations are identified in about 60% of kids with CHARGE. In the UK, Kirk is doing testing. Also the group in the Netherlands (who discovered the gene), and in the US, GeneDx. 5) even if the DNA gene test is negative, it still can be CHARGE. The diagnosis is still clinical - by featues, not by DNA. If the DNA test (or FISH, for that matter) is positive, that confirms CHARGE. But a negativel FISH or DNA test does NOT rule out CHARGE. 6) the prize you win with CHARGE is being hooked up with the most wonderful kids, families, and (some of the) profesisonals you will ever come across ;-) If you still feel you are " through the looking glass " - ask more questions and I'll see what i can do! Meg Meg Hefner, Genetic Counselor, St. Louis MO USA > Hi everybody! > > Genes stuff, this time.. > > My baby Aidan, last July, a few days after been diagnosed CHARGE was seen by > a geneticist (apparently he's a GOOD one.. or so they say..) who immediatly > pointed out that it was CHARGE with variant Hall-Hittner, and he expected to > find some deletetion in Aidan's cromosome 8q confirming this prognosis. > > Well, it happened that after a " Fish " reading of Aidan's cromosomes and > (lucky?) number 8 in particular, it turned out that there was no deletion > and everything was within the normal parameters. > > I've read, though, that CHARGE is caused by error in cromosome 7!! > > To tell you the truth, all this " jabberwocky " makes little sense to me. > > Is it really important, at this point, what cromosome's been affected?? > > I was wondering why some geneticists are SO reluctant to confirm CHARGE > diagnosis even when the child obviously presents ALL the symptoms.. > Is there any prize to win if you have CHARGE that I've missed???? > > > Let me know if you can enlighten this lay-woman.. > > > > Pat, mum to Aidan (CHARGE- 6 months old tomorrow, premature 29+4 wks) > > _________________________________________________________________ > Moda para esta temporada. Ponte al día de todas las tendencias. > http://www.msn.es/Mujer/moda/default.asp Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 5, 2005 Report Share Posted October 5, 2005 I'm so glad we have you Meg. Lori Myers Re: What's in a name? Hi Pat, Meg Hefner, Genetic Counselor here. Let me see if I can unscramble some of this for you. 1) CHARGE syndrome and Hall-Hittner: they are one and the same. HH just means really, truly, no question about it CHARGE, as opposed to " we think it's CHARGE, but not absolutely sure. " Dr. Hall and Dr. Hittner were some of the first doctors (in 1979 or so) to recognize that the features of what was later named CHARGE (in 1981) go together. 2) the one CHARGE gene that has been discovered (there may be more out there) is named CHD7, but it is on chromosome #8. It is a single gene, not a missing part of a chromosome. The overwhelming majority of children with CHARGE do not have a deletion anywehre in their chromosomes. 3) the FISH test for CHARGE is pretty worthless. FISH (fluorescent in-situ hybridization) of the CHD7 region on chromsome #8 will only pick up about 10% of kids with CHARGE. It is sometimes done because it is relatively inexpensive and pushed by some labs. 4) the better gene test for CHARGE is DNA sequencing. It is FAR more expensive and complicated than FISH, but mutations are identified in about 60% of kids with CHARGE. In the UK, Kirk is doing testing. Also the group in the Netherlands (who discovered the gene), and in the US, GeneDx. 5) even if the DNA gene test is negative, it still can be CHARGE. The diagnosis is still clinical - by featues, not by DNA. If the DNA test (or FISH, for that matter) is positive, that confirms CHARGE. But a negativel FISH or DNA test does NOT rule out CHARGE. 6) the prize you win with CHARGE is being hooked up with the most wonderful kids, families, and (some of the) profesisonals you will ever come across ;-) If you still feel you are " through the looking glass " - ask more questions and I'll see what i can do! Meg Meg Hefner, Genetic Counselor, St. Louis MO USA > Hi everybody! > > Genes stuff, this time.. > > My baby Aidan, last July, a few days after been diagnosed CHARGE was seen by > a geneticist (apparently he's a GOOD one.. or so they say..) who immediatly > pointed out that it was CHARGE with variant Hall-Hittner, and he expected to > find some deletetion in Aidan's cromosome 8q confirming this prognosis. > > Well, it happened that after a " Fish " reading of Aidan's cromosomes and > (lucky?) number 8 in particular, it turned out that there was no deletion > and everything was within the normal parameters. > > I've read, though, that CHARGE is caused by error in cromosome 7!! > > To tell you the truth, all this " jabberwocky " makes little sense to me. > > Is it really important, at this point, what cromosome's been affected?? > > I was wondering why some geneticists are SO reluctant to confirm CHARGE > diagnosis even when the child obviously presents ALL the symptoms.. > Is there any prize to win if you have CHARGE that I've missed???? > > > Let me know if you can enlighten this lay-woman.. > > > > Pat, mum to Aidan (CHARGE- 6 months old tomorrow, premature 29+4 wks) > > _________________________________________________________________ > Moda para esta temporada. Ponte al día de todas las tendencias. > http://www.msn.es/Mujer/moda/default.asp 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 October 5, 2005 Report Share Posted October 5, 2005 Pat- Your sense of humor is wonderful! At 6 months thru this CHARGE journey with AIdan, you're already questioning -- and that's awesome! The prize for the CHARGE dx is being a part of this great CHARGE family. Regardless of the dx, having the dx gives you access to so much information and guidance that you'd otherwise be without. Why drs hesitate to make/confirm a dx is beyond me. I guess for fear of being proven wrong when/if testing becomes available to confirm with certainty. If you know AIdan has CHARGE, if the CHARGE experts you have been in contact with can confirm that, then go with it. My Aubrie was dx'ed with " probable CHARGE " shortly after birth. We saw Meg early on for a brief " hello " . Aubrie was asleep in her stroller, but Meg could see her ears enough to confirm that they were CHARGE ears. As we've progressed thru things, Aubrie isn't just like any other CHARGEr, but she's definitely one of them. A few years ago, we discovered that Patty Haggerty (Bonnie's adult daughter) and Aubrie had more in common than Aubrie does with any other CHARGEr. I now call them " twins 13-years-removed " . It's a great comfort to see Patty and feel that I have a glimpse of Aubrie's possible future. CHARGE kids are so unlike other kids that it's helpful to have drs and specialists on the team who " get it " -- who recognize the dx and what it means for that child in particular. I don't know when Aubrie changed from " probable " to just plain CHARGE. It wasn't an official confirmation, it just sort of evolved. If we were still seeing the same geneticist from birth, perhaps it would be an issue, but we are lucky enough to see a geneticist who works with Meg (I can see you all turning green with envy now!). Anyway -- keep questioning and doing what you know in your heart is best for Aidan. You are right not to get caught up in the labels and terminology. But there is comfort and strength in knowing where you belong and where to go for answers and support. I liken our CHARGE family to an in-law family that you love! Aubrie's CHARGE peers are like siblings in that they share something genetic (just as she has genetic info from me and my husband). If they are sibs, then their parents are something to me. We have a bond that is unique. I wouldn't give that up for anything. And I wouldn't let some dr take it away from me because he hesitates to confirm the dx. Michele W mom to Aubrie (7 yrs) CHaRgE and (13 yrs) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 5, 2005 Report Share Posted October 5, 2005 Um if you see a picture of me before my jaw opperation, belinda and I look like we could be twins Chantelle > Pat- > Your sense of humor is wonderful! At 6 months thru this CHARGE journey with AIdan, you're already questioning -- and that's awesome! > > The prize for the CHARGE dx is being a part of this great CHARGE family. Regardless of the dx, having the dx gives you access to so much information and guidance that you'd otherwise be without. Why drs hesitate to make/confirm a dx is beyond me. I guess for fear of being proven wrong when/if testing becomes available to confirm with certainty. If you know AIdan has CHARGE, if the CHARGE experts you have been in contact with can confirm that, then go with it. > > My Aubrie was dx'ed with " probable CHARGE " shortly after birth. We saw Meg early on for a brief " hello " . Aubrie was asleep in her stroller, but Meg could see her ears enough to confirm that they were CHARGE ears. As we've progressed thru things, Aubrie isn't just like any other CHARGEr, but she's definitely one of them. A few years ago, we discovered that Patty Haggerty (Bonnie's adult daughter) and Aubrie had more in common than Aubrie does with any other CHARGEr. I now call them " twins 13-years-removed " . It's a great comfort to see Patty and feel that I have a glimpse of Aubrie's possible future. > > CHARGE kids are so unlike other kids that it's helpful to have drs and specialists on the team who " get it " -- who recognize the dx and what it means for that child in particular. I don't know when Aubrie changed from " probable " to just plain CHARGE. It wasn't an official confirmation, it just sort of evolved. If we were still seeing the same geneticist from birth, perhaps it would be an issue, but we are lucky enough to see a geneticist who works with Meg (I can see you all turning green with envy now!). > > Anyway -- keep questioning and doing what you know in your heart is best for Aidan. You are right not to get caught up in the labels and terminology. But there is comfort and strength in knowing where you belong and where to go for answers and support. I liken our CHARGE family to an in-law family that you love! Aubrie's CHARGE peers are like siblings in that they share something genetic (just as she has genetic info from me and my husband). If they are sibs, then their parents are something to me. We have a bond that is unique. I wouldn't give that up for anything. And I wouldn't let some dr take it away from me because he hesitates to confirm the dx. > > Michele W > mom to Aubrie (7 yrs) CHaRgE and (13 yrs) > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 5, 2005 Report Share Posted October 5, 2005 Oh Meg, you are so sweet. I was just about to send a cynical reply that the prize we have right now is a manic little girl who is driving us all nuts and we can't quite figure out what the problem is plus the sleep deprivation thanks to (I think and hope) her adenoids is turning me into a zombie. I prefer your more level headed balanced reply though, and ahhh, yes. I do now recall, she is wonderful, and thank goodness for wonderful you too. Flo > > >6) the prize you win with CHARGE is being hooked up with the most >wonderful kids, families, and (some of the) profesisonals you will >ever come across ;-) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 5, 2005 Report Share Posted October 5, 2005 Thanks so much for putting it in an " understandable " english, Meg! Of course I'll let ya know if any other question regarding this subject crosses my mind and, also, I'll let ya know about what that geneticist tells us in Dec.. " The Cheshire PAT " ;-D > >Reply-To: CHARGE >To: CHARGE >Subject: Re: What's in a name? >Date: Wed, 05 Oct 2005 16:42:00 -0000 > >Hi Pat, >Meg Hefner, Genetic Counselor here. Let me see if I can unscramble >some of this for you. > >1) CHARGE syndrome and Hall-Hittner: they are one and the same. HH >just means really, truly, no question about it CHARGE, as opposed to > " we think it's CHARGE, but not absolutely sure. " Dr. Hall and Dr. >Hittner were some of the first doctors (in 1979 or so) to recognize >that the features of what was later named CHARGE (in 1981) go together. > >2) the one CHARGE gene that has been discovered (there may be more out >there) is named CHD7, but it is on chromosome #8. It is a single >gene, not a missing part of a chromosome. The overwhelming majority >of children with CHARGE do not have a deletion anywehre in their >chromosomes. > >3) the FISH test for CHARGE is pretty worthless. FISH (fluorescent >in-situ hybridization) of the CHD7 region on chromsome #8 will only >pick up about 10% of kids with CHARGE. It is sometimes done because it >is relatively inexpensive and pushed by some labs. > >4) the better gene test for CHARGE is DNA sequencing. It is FAR more >expensive and complicated than FISH, but mutations are identified in >about 60% of kids with CHARGE. In the UK, Kirk is doing >testing. Also the group in the Netherlands (who discovered the gene), >and in the US, GeneDx. > >5) even if the DNA gene test is negative, it still can be CHARGE. The >diagnosis is still clinical - by featues, not by DNA. If the DNA test >(or FISH, for that matter) is positive, that confirms CHARGE. But a >negativel FISH or DNA test does NOT rule out CHARGE. > >6) the prize you win with CHARGE is being hooked up with the most >wonderful kids, families, and (some of the) profesisonals you will >ever come across ;-) > >If you still feel you are " through the looking glass " - ask more >questions and I'll see what i can do! >Meg > >Meg Hefner, Genetic Counselor, St. Louis MO USA > > > > Hi everybody! > > > > Genes stuff, this time.. > > > > My baby Aidan, last July, a few days after been diagnosed CHARGE was >seen by > > a geneticist (apparently he's a GOOD one.. or so they say..) who >immediatly > > pointed out that it was CHARGE with variant Hall-Hittner, and he >expected to > > find some deletetion in Aidan's cromosome 8q confirming this prognosis. > > > > Well, it happened that after a " Fish " reading of Aidan's cromosomes and > > (lucky?) number 8 in particular, it turned out that there was no >deletion > > and everything was within the normal parameters. > > > > I've read, though, that CHARGE is caused by error in cromosome 7!! > > > > To tell you the truth, all this " jabberwocky " makes little sense to me. > > > > Is it really important, at this point, what cromosome's been affected?? > > > > I was wondering why some geneticists are SO reluctant to confirm CHARGE > > diagnosis even when the child obviously presents ALL the symptoms.. > > Is there any prize to win if you have CHARGE that I've missed???? > > > > > > Let me know if you can enlighten this lay-woman.. > > > > > > > > Pat, mum to Aidan (CHARGE- 6 months old tomorrow, premature 29+4 wks) > > > > _________________________________________________________________ > > Moda para esta temporada. Ponte al día de todas las tendencias. > > http://www.msn.es/Mujer/moda/default.asp > > _________________________________________________________________ Acepta el reto MSN Premium: Protección para tus hijos en internet. Descárgalo y pruébalo 2 meses gratis. http://join.msn.com?XAPID=1697 & DI=1055 & HL=Footer_mailsenviados_proteccioninfanti\ l Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 6, 2005 Report Share Posted October 6, 2005 Oooohh, Michele, Now I remember why we all miss you here. You have a way of expressing that is pretty powerful. This is well put, sock it to the powerful! And you are right, Pat has a great sense of humour, made me laugh right out loud. Hope things are going well with you Michele, and it is always a pleasure to hear from you. Flo > >Reply-To: CHARGE >To: CHARGE List <CHARGE > >Subject: re: what's in a name? >Date: Wed, 5 Oct 2005 11:18:29 -0700 (PDT) > >Pat- >Your sense of humor is wonderful! At 6 months thru this CHARGE journey >with AIdan, you're already questioning -- and that's awesome! > >The prize for the CHARGE dx is being a part of this great CHARGE family. >Regardless of the dx, having the dx gives you access to so much information >and guidance that you'd otherwise be without. Why drs hesitate to >make/confirm a dx is beyond me. I guess for fear of being proven wrong >when/if testing becomes available to confirm with certainty. If you know >AIdan has CHARGE, if the CHARGE experts you have been in contact with can >confirm that, then go with it. > >My Aubrie was dx'ed with " probable CHARGE " shortly after birth. We saw Meg >early on for a brief " hello " . Aubrie was asleep in her stroller, but Meg >could see her ears enough to confirm that they were CHARGE ears. As we've >progressed thru things, Aubrie isn't just like any other CHARGEr, but she's >definitely one of them. A few years ago, we discovered that Patty Haggerty >(Bonnie's adult daughter) and Aubrie had more in common than Aubrie does >with any other CHARGEr. I now call them " twins 13-years-removed " . It's a >great comfort to see Patty and feel that I have a glimpse of Aubrie's >possible future. > >CHARGE kids are so unlike other kids that it's helpful to have drs and >specialists on the team who " get it " -- who recognize the dx and what it >means for that child in particular. I don't know when Aubrie changed from > " probable " to just plain CHARGE. It wasn't an official confirmation, it >just sort of evolved. If we were still seeing the same geneticist from >birth, perhaps it would be an issue, but we are lucky enough to see a >geneticist who works with Meg (I can see you all turning green with envy >now!). > >Anyway -- keep questioning and doing what you know in your heart is best >for Aidan. You are right not to get caught up in the labels and >terminology. But there is comfort and strength in knowing where you belong >and where to go for answers and support. I liken our CHARGE family to an >in-law family that you love! Aubrie's CHARGE peers are like siblings in >that they share something genetic (just as she has genetic info from me and >my husband). If they are sibs, then their parents are something to me. We >have a bond that is unique. I wouldn't give that up for anything. And I >wouldn't let some dr take it away from me because he hesitates to confirm >the dx. > >Michele W >mom to Aubrie (7 yrs) CHaRgE and (13 yrs) > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 6, 2005 Report Share Posted October 6, 2005 Meg, what a very cool answer!!! pam Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 6, 2005 Report Share Posted October 6, 2005 Can someone explain the difference between CHARGE Syndrome and Hall-Hittner? I thought they were the same thing. I though Graham was ticked because the syndome wasn't named after the above mentioned? I don't mean ANY disrespect. I like Graham. I liked the journal article (it was ludicrous getting stuck on the name). I remember Hall at Portland. He hasn't stuck around. He doesn't give a rip about our kids. Anyway, I am off my original question, is there a difference--please correct me if I am wrong. Please--there was no offense intended. Kristy What's in a name? Hi everybody! Genes stuff, this time.. My baby Aidan, last July, a few days after been diagnosed CHARGE was seen by a geneticist (apparently he's a GOOD one.. or so they say..) who immediatly pointed out that it was CHARGE with variant Hall-Hittner, and he expected to find some deletetion in Aidan's cromosome 8q confirming this prognosis. Well, it happened that after a " Fish " reading of Aidan's cromosomes and (lucky?) number 8 in particular, it turned out that there was no deletion and everything was within the normal parameters. I've read, though, that CHARGE is caused by error in cromosome 7!! To tell you the truth, all this " jabberwocky " makes little sense to me. Is it really important, at this point, what cromosome's been affected?? I was wondering why some geneticists are SO reluctant to confirm CHARGE diagnosis even when the child obviously presents ALL the symptoms.. Is there any prize to win if you have CHARGE that I've missed???? Let me know if you can enlighten this lay-woman.. Pat, mum to Aidan (CHARGE- 6 months old tomorrow, premature 29+4 wks) _________________________________________________________________ Moda para esta temporada. Ponte al día de todas las tendencias. http://www.msn.es/Mujer/moda/default.asp<http://www.msn.es/Mujer/moda/default.as\ p> 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<http://www.chargesyndrome.org/> - for CHARGE Syndrome Canada information and membership, please visit http://www.chargesyndrome.ca<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 October 6, 2005 Report Share Posted October 6, 2005 Kristy, I do not know the behind the scene politics of the medical doctors interested in CHARGE. When I read the article proposing Hall-Hittner it seemed to me more about how to handle the issue if CHARGE was a syndrome or an association. I believe he proposed that there was an association within the syndrome. I would have to pull it out it has been too long since I have read it. Kim > Can someone explain the difference between CHARGE Syndrome and Hall-Hittner? > I thought they were the same thing. I though Graham was ticked because the > syndome wasn't named after the above mentioned? I don't mean ANY disrespect. > I like Graham. I liked the journal article (it was ludicrous getting stuck on > the name). I remember Hall at Portland. He hasn't stuck around. He doesn't > give a rip about our kids. Anyway, I am off my original question, is there a > difference--please correct me if I am wrong. > > Please--there was no offense intended. > > Kristy > What's in a name? > > > Hi everybody! > > Genes stuff, this time.. > > My baby Aidan, last July, a few days after been diagnosed CHARGE was seen by > a geneticist (apparently he's a GOOD one.. or so they say..) who immediatly > pointed out that it was CHARGE with variant Hall-Hittner, and he expected to > find some deletetion in Aidan's cromosome 8q confirming this prognosis. > > Well, it happened that after a " Fish " reading of Aidan's cromosomes and > (lucky?) number 8 in particular, it turned out that there was no deletion > and everything was within the normal parameters. > > I've read, though, that CHARGE is caused by error in cromosome 7!! > > To tell you the truth, all this " jabberwocky " makes little sense to me. > > Is it really important, at this point, what cromosome's been affected?? > > I was wondering why some geneticists are SO reluctant to confirm CHARGE > diagnosis even when the child obviously presents ALL the symptoms.. > Is there any prize to win if you have CHARGE that I've missed???? > > > Let me know if you can enlighten this lay-woman.. > > > > Pat, mum to Aidan (CHARGE- 6 months old tomorrow, premature 29+4 wks) > > _________________________________________________________________ > Moda para esta temporada. Ponte al día de todas las tendencias. > http://www.msn.es/Mujer/moda/default.asp<http://www.msn.es/Mujer/moda/default. > asp> > > > > 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<http://www.chargesyndrome.org/> > - for CHARGE Syndrome Canada information and membership, please visit > http://www.chargesyndrome.ca<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 October 6, 2005 Report Share Posted October 6, 2005 Gotcha. So because he thought it still should be called CHARGE Association and that is a no-no, he could get around it by calling it Hall-Hittner. Actually, that still doesn't make any sense. Not picking on him, just trying to sort this out I thought the article itself was well-written. They utilized parts of others peoples articles at the end of theirs to summerize their case. Which brings up another question, I never thought you could have two diagnoses w/CHARGE. I believe they were preposing Autism Spectrum Disorder. I honestly feel that Tyler's behaviors are due to his multisensory issues. I can honestly say that I have not investigated A.S.D., but the fact that our kids have so much information they are trying to process, it makes sense that they get overloaded. Kristy What's in a name? > > > Hi everybody! > > Genes stuff, this time.. > > My baby Aidan, last July, a few days after been diagnosed CHARGE was seen by > a geneticist (apparently he's a GOOD one.. or so they say..) who immediatly > pointed out that it was CHARGE with variant Hall-Hittner, and he expected to > find some deletetion in Aidan's cromosome 8q confirming this prognosis. > > Well, it happened that after a " Fish " reading of Aidan's cromosomes and > (lucky?) number 8 in particular, it turned out that there was no deletion > and everything was within the normal parameters. > > I've read, though, that CHARGE is caused by error in cromosome 7!! > > To tell you the truth, all this " jabberwocky " makes little sense to me. > > Is it really important, at this point, what cromosome's been affected?? > > I was wondering why some geneticists are SO reluctant to confirm CHARGE > diagnosis even when the child obviously presents ALL the symptoms.. > Is there any prize to win if you have CHARGE that I've missed???? > > > Let me know if you can enlighten this lay-woman.. > > > > Pat, mum to Aidan (CHARGE- 6 months old tomorrow, premature 29+4 wks) > > _________________________________________________________________ > Moda para esta temporada. Ponte al día de todas las tendencias. > http://www.msn.es/Mujer/moda/default.asp<http://www.msn.es/Mujer/moda/default.as\ p><http://www.msn.es/Mujer/moda/default.<http://www.msn.es/Mujer/moda/default.> > asp> > > > > 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<http://www.chargesyndrome.org/><http://www.charges\ yndrome.org/<http://www.chargesyndrome.org/>> > - for CHARGE Syndrome Canada information and membership, please visit > http://www.chargesyndrome.ca<http://www.chargesyndrome.ca/><http://www.chargesyn\ drome.ca/<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 October 6, 2005 Report Share Posted October 6, 2005 Kristy, Meg sent a message this morning explaining that CHARGE and Hall-Hittner were the same. If you didn't get that message, I can send it to you or you can check the Yahoo Archives. n KRISTY STEMEN wrote: > Can someone explain the difference between CHARGE Syndrome and > Hall-Hittner? I thought they were the same thing. I though Graham > was ticked because the syndome wasn't named after the above > mentioned? I don't mean ANY disrespect. I like Graham. I liked the > journal article (it was ludicrous getting stuck on the name). I > remember Hall at Portland. He hasn't stuck around. He doesn't give a > rip about our kids. Anyway, I am off my original question, is there a > difference--please correct me if I am wrong. > > Please--there was no offense intended. > > Kristy > What's in a name? > > > Hi everybody! > > Genes stuff, this time.. > > My baby Aidan, last July, a few days after been diagnosed CHARGE was > seen by > a geneticist (apparently he's a GOOD one.. or so they say..) who > immediatly > pointed out that it was CHARGE with variant Hall-Hittner, and he > expected to > find some deletetion in Aidan's cromosome 8q confirming this prognosis. > > Well, it happened that after a " Fish " reading of Aidan's cromosomes and > (lucky?) number 8 in particular, it turned out that there was no > deletion > and everything was within the normal parameters. > > I've read, though, that CHARGE is caused by error in cromosome 7!! > > To tell you the truth, all this " jabberwocky " makes little sense to me. > > Is it really important, at this point, what cromosome's been affected?? > > I was wondering why some geneticists are SO reluctant to confirm CHARGE > diagnosis even when the child obviously presents ALL the symptoms.. > Is there any prize to win if you have CHARGE that I've missed???? > > > Let me know if you can enlighten this lay-woman.. > > > > Pat, mum to Aidan (CHARGE- 6 months old tomorrow, premature 29+4 wks) > > _________________________________________________________________ > Moda para esta temporada. Ponte al día de todas las tendencias. > > http://www.msn.es/Mujer/moda/default.asp<http://www.msn.es/Mujer/moda/default.as\ p> > > > > 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<http://www.chargesyndrome.org/> - for > CHARGE Syndrome Canada information and membership, please visit > http://www.chargesyndrome.ca<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 October 6, 2005 Report Share Posted October 6, 2005 Kristy, The article in the American Journal of Medical Genetics, March 2005 was part of a series of initial studies on what appears to be a behavioral phenotype in CHARGE. Autistic-like behavior is part of that picture for a subgroup of kids with CHARGE. Most studies I have seen recognize that our kids could qualify for the diagnosis, but when observed closely there are key differences between the autistic-like behaviors seen in CHARGE and classic autism. Although debate continues, I think most of the docs (that study CHARGE) feel there is no need for the additional diagnosis, but providing services that meet these unique needs is. When Dylan was younger I felt that all of his unique learning needs were explained by his combined vision and hearing loss. As I have been around more and more kids with combined loss, it seems to me Dylan was different. For me understanding these differences has been essential to building an educational program that truly meets his needs. It is certainly an ongoing battle to keep up with it. As totally autistic-like as he seemed from age 4 to age 8, he no longer appears that way; much more back to his more typical (if there is such a thing) deafblind self. (His story is in that same issue of the AJMG) Back to Graham - the article I refer to was written awhile ago where he introduced the name Hall-Hitner. If I recall he labeled Hall-Hittner as the true sysndrome, and CHARGE association as the association within it - all the kids who had many of the features, but didn't actually meet the diagnostic criteria. (It has been so long since I read it, so don't quote me.) Hopefully Meg will chime in in the morning. Kim > Gotcha. So because he thought it still should be called CHARGE Association > and that is a no-no, he could get around it by calling it Hall-Hittner. > Actually, that still doesn't make any sense. Not picking on him, just trying > to sort this out > > I thought the article itself was well-written. They utilized parts of others > peoples articles at the end of theirs to summerize their case. Which brings > up another question, I never thought you could have two diagnoses w/CHARGE. > I believe they were preposing Autism Spectrum Disorder. > > I honestly feel that Tyler's behaviors are due to his multisensory issues. I > can honestly say that I have not investigated A.S.D., but the fact that our > kids have so much information they are trying to process, it makes sense that > they get overloaded. > > Kristy > What's in a name? >> >> >> Hi everybody! >> >> Genes stuff, this time.. >> >> My baby Aidan, last July, a few days after been diagnosed CHARGE was seen by >> a geneticist (apparently he's a GOOD one.. or so they say..) who immediatly >> pointed out that it was CHARGE with variant Hall-Hittner, and he expected to >> find some deletetion in Aidan's cromosome 8q confirming this prognosis. >> >> Well, it happened that after a " Fish " reading of Aidan's cromosomes and >> (lucky?) number 8 in particular, it turned out that there was no deletion >> and everything was within the normal parameters. >> >> I've read, though, that CHARGE is caused by error in cromosome 7!! >> >> To tell you the truth, all this " jabberwocky " makes little sense to me. >> >> Is it really important, at this point, what cromosome's been affected?? >> >> I was wondering why some geneticists are SO reluctant to confirm CHARGE >> diagnosis even when the child obviously presents ALL the symptoms.. >> Is there any prize to win if you have CHARGE that I've missed???? >> >> >> Let me know if you can enlighten this lay-woman.. >> >> >> >> Pat, mum to Aidan (CHARGE- 6 months old tomorrow, premature 29+4 wks) >> >> _________________________________________________________________ >> Moda para esta temporada. Ponte al día de todas las tendencias. >> http://www.msn.es/Mujer/moda/default.asp<http://www.msn.es/Mujer/moda/default >> .asp><http://www.msn.es/Mujer/moda/default.<http://www.msn.es/Mujer/moda/defa >> ult.> >> asp> >> >> >> >> 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<http://www.chargesyndrome.org/><http://www.char >> gesyndrome.org/<http://www.chargesyndrome.org/>> >> - for CHARGE Syndrome Canada information and membership, please visit >> http://www.chargesyndrome.ca<http://www.chargesyndrome.ca/><http://www.charge >> syndrome.ca/<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 October 6, 2005 Report Share Posted October 6, 2005 Kim, I would have to go back and read it again too but I had taken it as proposing it was an association and NOT a syndrome. That debate continues in the medical politics of it all to this very day. That's why the CHARGE gene is so wonderful. Now they just cannot deny it! I have had a few debates with a few doctors about this. When they just can't accept it we go elsewhere. Now I won't have to debate it, I''ll just bring my journal with me! Bonnie, mom to a 23, Patty CHARGE 21, and wife to Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 6, 2005 Report Share Posted October 6, 2005 " Always look on the bright side of life.... " ;-D Pat, mum to Aidan (CHARGE- 6 months old TODAY- premature by 10 wks) --------------------------------------------------------------------------------\ -------------------------------- > >Reply-To: CHARGE >To: CHARGE >Subject: RE: re: what's in a name? >Date: Wed, 05 Oct 2005 22:38:46 +0000 > >Oooohh, Michele, >Now I remember why we all miss you here. You have a way of expressing that >is pretty powerful. This is well put, sock it to the powerful! And you >are >right, Pat has a great sense of humour, made me laugh right out loud. > >Hope things are going well with you Michele, and it is always a pleasure to >hear from you. > >Flo > > > > > >Reply-To: CHARGE > >To: CHARGE List <CHARGE > > >Subject: re: what's in a name? > >Date: Wed, 5 Oct 2005 11:18:29 -0700 (PDT) > > > >Pat- > >Your sense of humor is wonderful! At 6 months thru this CHARGE journey > >with AIdan, you're already questioning -- and that's awesome! > > > >The prize for the CHARGE dx is being a part of this great CHARGE family. > >Regardless of the dx, having the dx gives you access to so much >information > >and guidance that you'd otherwise be without. Why drs hesitate to > >make/confirm a dx is beyond me. I guess for fear of being proven wrong > >when/if testing becomes available to confirm with certainty. If you know > >AIdan has CHARGE, if the CHARGE experts you have been in contact with can > >confirm that, then go with it. > > > >My Aubrie was dx'ed with " probable CHARGE " shortly after birth. We saw >Meg > >early on for a brief " hello " . Aubrie was asleep in her stroller, but Meg > >could see her ears enough to confirm that they were CHARGE ears. As >we've > >progressed thru things, Aubrie isn't just like any other CHARGEr, but >she's > >definitely one of them. A few years ago, we discovered that Patty >Haggerty > >(Bonnie's adult daughter) and Aubrie had more in common than Aubrie does > >with any other CHARGEr. I now call them " twins 13-years-removed " . It's >a > >great comfort to see Patty and feel that I have a glimpse of Aubrie's > >possible future. > > > >CHARGE kids are so unlike other kids that it's helpful to have drs and > >specialists on the team who " get it " -- who recognize the dx and what it > >means for that child in particular. I don't know when Aubrie changed >from > > " probable " to just plain CHARGE. It wasn't an official confirmation, it > >just sort of evolved. If we were still seeing the same geneticist from > >birth, perhaps it would be an issue, but we are lucky enough to see a > >geneticist who works with Meg (I can see you all turning green with envy > >now!). > > > >Anyway -- keep questioning and doing what you know in your heart is best > >for Aidan. You are right not to get caught up in the labels and > >terminology. But there is comfort and strength in knowing where you >belong > >and where to go for answers and support. I liken our CHARGE family to an > >in-law family that you love! Aubrie's CHARGE peers are like siblings in > >that they share something genetic (just as she has genetic info from me >and > >my husband). If they are sibs, then their parents are something to me. >We > >have a bond that is unique. I wouldn't give that up for anything. And I > >wouldn't let some dr take it away from me because he hesitates to confirm > >the dx. > > > >Michele W > >mom to Aubrie (7 yrs) CHaRgE and (13 yrs) > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted October 6, 2005 Report Share Posted October 6, 2005 KRISTY, HERE YOU ARE MEG'S REPLY TO MY E-MAIL, IN CASE YOU DIDN'T RECEIVE IT.. >>>Hi Pat, Meg Hefner, Genetic Counselor here. Let me see if I can unscramble some of this for you. 1) CHARGE syndrome and Hall-Hittner: they are one and the same. HH just means really, truly, no question about it CHARGE, as opposed to " we think it's CHARGE, but not absolutely sure. " Dr. Hall and Dr. Hittner were some of the first doctors (in 1979 or so) to recognize that the features of what was later named CHARGE (in 1981) go together. 2) the one CHARGE gene that has been discovered (there may be more out there) is named CHD7, but it is on chromosome #8. It is a single gene, not a missing part of a chromosome. The overwhelming majority of children with CHARGE do not have a deletion anywehre in their chromosomes. 3) the FISH test for CHARGE is pretty worthless. FISH (fluorescent in-situ hybridization) of the CHD7 region on chromsome #8 will only pick up about 10% of kids with CHARGE. It is sometimes done because it is relatively inexpensive and pushed by some labs. 4) the better gene test for CHARGE is DNA sequencing. It is FAR more expensive and complicated than FISH, but mutations are identified in about 60% of kids with CHARGE. In the UK, Kirk is doing testing. Also the group in the Netherlands (who discovered the gene), and in the US, GeneDx. 5) even if the DNA gene test is negative, it still can be CHARGE. The diagnosis is still clinical - by featues, not by DNA. If the DNA test (or FISH, for that matter) is positive, that confirms CHARGE. But a negativel FISH or DNA test does NOT rule out CHARGE. 6) the prize you win with CHARGE is being hooked up with the most wonderful kids, families, and (some of the) profesisonals you will ever come across ;-) If you still feel you are " through the looking glass " - ask more questions and I'll see what i can do! Meg Meg Hefner, Genetic Counselor, St. Louis MO USA > >Reply-To: CHARGE >To: CHARGE >Subject: Re: What's in a name? >Date: Wed, 05 Oct 2005 23:35:13 -0500 > >Kristy, >Meg sent a message this morning explaining that CHARGE and Hall-Hittner >were the same. If you didn't get that message, I can send it to you or >you can check the Yahoo Archives. >n > >KRISTY STEMEN wrote: > > > Can someone explain the difference between CHARGE Syndrome and > > Hall-Hittner? I thought they were the same thing. I though Graham > > was ticked because the syndome wasn't named after the above > > mentioned? I don't mean ANY disrespect. I like Graham. I liked the > > journal article (it was ludicrous getting stuck on the name). I > > remember Hall at Portland. He hasn't stuck around. He doesn't give a > > rip about our kids. Anyway, I am off my original question, is there a > > difference--please correct me if I am wrong. > > > > Please--there was no offense intended. > > > > Kristy > > What's in a name? > > > > > > Hi everybody! > > > > Genes stuff, this time.. > > > > My baby Aidan, last July, a few days after been diagnosed CHARGE was > > seen by > > a geneticist (apparently he's a GOOD one.. or so they say..) who > > immediatly > > pointed out that it was CHARGE with variant Hall-Hittner, and he > > expected to > > find some deletetion in Aidan's cromosome 8q confirming this >prognosis. > > > > Well, it happened that after a " Fish " reading of Aidan's cromosomes >and > > (lucky?) number 8 in particular, it turned out that there was no > > deletion > > and everything was within the normal parameters. > > > > I've read, though, that CHARGE is caused by error in cromosome 7!! > > > > To tell you the truth, all this " jabberwocky " makes little sense to >me. > > > > Is it really important, at this point, what cromosome's been >affected?? > > > > I was wondering why some geneticists are SO reluctant to confirm >CHARGE > > diagnosis even when the child obviously presents ALL the symptoms.. > > Is there any prize to win if you have CHARGE that I've missed???? > > > > > > Let me know if you can enlighten this lay-woman.. > > > > > > > > Pat, mum to Aidan (CHARGE- 6 months old tomorrow, premature 29+4 wks) > > > > _________________________________________________________________ > > Moda para esta temporada. Ponte al día de todas las tendencias. > > > > >http://www.msn.es/Mujer/moda/default.asp<http://www.msn.es/Mujer/moda/default.a\ sp> > > > > > > > > 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<http://www.chargesyndrome.org/> - for > > CHARGE Syndrome Canada information and membership, please visit > > http://www.chargesyndrome.ca<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 October 6, 2005 Report Share Posted October 6, 2005 n, Thanks n, I got it AFTER I posted my message It's hard when there are so many posts! I guess you should wait to post until after you have read them all! It's that impulsivity thing (something strikes you and " you just have to respond " ). I am glad that Meg posted, because she did address the issue. I owe Dr. Hall a big fat apology!! Open-mouth and insert foot. I stand horribly corrected, and I am sorry for that. I was completely unaware he retired. I am going to try to say this though. I am only going to speak for myself as a parent. There are people/professionals that ARE involved with our children that have COMPASSION and really care. If I start a list I will leave people out. Actually I am going to start one and have others fill in what I forget. This is coming... What's in a name? > > > Hi everybody! > > Genes stuff, this time.. > > My baby Aidan, last July, a few days after been diagnosed CHARGE was > seen by > a geneticist (apparently he's a GOOD one.. or so they say..) who > immediatly > pointed out that it was CHARGE with variant Hall-Hittner, and he > expected to > find some deletetion in Aidan's cromosome 8q confirming this prognosis. > > Well, it happened that after a " Fish " reading of Aidan's cromosomes and > (lucky?) number 8 in particular, it turned out that there was no > deletion > and everything was within the normal parameters. > > I've read, though, that CHARGE is caused by error in cromosome 7!! > > To tell you the truth, all this " jabberwocky " makes little sense to me. > > Is it really important, at this point, what cromosome's been affected?? > > I was wondering why some geneticists are SO reluctant to confirm CHARGE > diagnosis even when the child obviously presents ALL the symptoms.. > Is there any prize to win if you have CHARGE that I've missed???? > > > Let me know if you can enlighten this lay-woman.. > > > > Pat, mum to Aidan (CHARGE- 6 months old tomorrow, premature 29+4 wks) > > _________________________________________________________________ > Moda para esta temporada. Ponte al día de todas las tendencias. > > http://www.msn.es/Mujer/moda/default.asp<http://www.msn.es/Mujer/moda/default.as\ p><http://www.msn.es/Mujer/moda/default.asp<http://www.msn.es/Mujer/moda/default\ ..asp>> > > > > 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<http://www.chargesyndrome.org/><http://www.charges\ yndrome.org/<http://www.chargesyndrome.org/>> - for > CHARGE Syndrome Canada information and membership, please visit > http://www.chargesyndrome.ca<http://www.chargesyndrome.ca/><http://www.chargesyn\ drome.ca/<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...
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