Guest guest Posted January 13, 2006 Report Share Posted January 13, 2006 Lesley, I am glad today is good. Amelie feeling well enough to do new things, the genetics results and hope instead of dread for Monday. Hope and joy in the moment, what more could a CHARGE mom ask for? Well maybe I shouldn't put it quite like that you could probably rattle off a whole list of things, but you know what I mean. I don't know anything about EE unless I am just blanking on what the initials stand for. Kim > Forgot to tell you all why I am so happy today. > > the genetics doctor rang to say Darren and I tested negative to the > CHD7 mutation. our cloods went to holland 6 months ago and they came > back today. > I wanted to shout it from the roof tops, I was worried my three other > girls might go on to have a baby and they might risk charge, and so I > was panicking about this as well, and as a granparent we would have > been worried the whole pregnancy, the eldest is 11 i know what you are > all thinking!!! slow down lesley. > > Also I think I always thought because i too have had a PDA ligation > when i was a baby, well i thought i had caused her to get charge, so i > thought i had the charge mutation hereditry, am i making sense. > > thats my good news for today > > LOL LOL Lesley > > > > > > 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 January 13, 2006 Report Share Posted January 13, 2006 Lesley, Did Amelie test positive for the mutation? (I forget if you said before, sorry!) I'm glad for your happy news! Weir Home: lisaweir@... Work: lisa.weir@... Phone: Web: http://ca.geocities.com/weirfamilyrogers Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 13, 2006 Report Share Posted January 13, 2006 Dear so i dont get my knickers in a twist, i will type exactly what her letter said for you it means nothing to me!! results Pathogenic mutation IVS27+1G>A heterozygously detected in the CHD7 gene by sequence analysis. Conclusion these results confirm diagnosis of charge syndrome caused my mutation. If it means anything let me know love lesley > > Lesley, > Did Amelie test positive for the mutation? (I forget if you said before, sorry!) I'm glad for your happy news! > > > > Weir > Home: lisaweir@r... > Work: lisa.weir@n... > Phone: > Web: http://ca.geocities.com/weirfamily@r... > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 13, 2006 Report Share Posted January 13, 2006 Dear Kim The EE was in a post which was very informational and helpful from marian mengedoht today, have a read its very good. Also when you said when Dylan was one about the neuro comments, thats how i felt when the neuro women only saw her the once 6 weeks old vented, and she said all of that neuro abnormal, in fact her words were 'clearly very abnormal'which i later received in writing, i was devistated, she had no diagnosis, not even the MSI aspects which count for a lot, how could she make such a diagnosis, and upset us like she did, i am going to see her again end of the month i am dreading it, she was so bleak its damaged us literally. When professionals do come to see Amelie they have no doubt read her letter she is described as one of the top neurology people, so they are going to right amelie off before they have even met her, but this week in this hospital where so many professionals seem to heve come to see her for one thing or another, they all seem surprised when they see her playing with toys and passing toys from one hand to the other, and she puts everything in her mouth, and she even trys to look upside down at the TV. I get angry with her comments she never gave Amelie a single chance, in my opinion i know very little, but she wrote her off too soon. GRRRRRRRRRR i really dont like her for it! love Lesley > > > Forgot to tell you all why I am so happy today. > > > > the genetics doctor rang to say Darren and I tested negative to the > > CHD7 mutation. our cloods went to holland 6 months ago and they came > > back today. > > I wanted to shout it from the roof tops, I was worried my three other > > girls might go on to have a baby and they might risk charge, and so I > > was panicking about this as well, and as a granparent we would have > > been worried the whole pregnancy, the eldest is 11 i know what you are > > all thinking!!! slow down lesley. > > > > Also I think I always thought because i too have had a PDA ligation > > when i was a baby, well i thought i had caused her to get charge, so i > > thought i had the charge mutation hereditry, am i making sense. > > > > thats my good news for today > > > > LOL LOL Lesley > > > > > > > > > > > > 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 or by calling 1-. > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 13, 2006 Report Share Posted January 13, 2006 Lesley, It just means she definitely has CHARGE - no need to understand the genetics. Kim > > Dear > > so i dont get my knickers in a twist, i will type exactly what her > letter said for you it means nothing to me!! > > results Pathogenic mutation IVS27+1G>A heterozygously detected in > the CHD7 gene by sequence analysis. > Conclusion these results confirm diagnosis of charge syndrome caused > my mutation. > > If it means anything let me know > > love lesley > > > > > > >> >> Lesley, >> Did Amelie test positive for the mutation? (I forget if you said > before, sorry!) I'm glad for your happy news! >> >> >> >> Weir >> Home: lisaweir@r... >> Work: lisa.weir@n... >> Phone: >> Web: http://ca.geocities.com/weirfamily@r... >> >> >> >> >> >> >> >> >> >> >> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 13, 2006 Report Share Posted January 13, 2006 Lesley - spoken like a true mother bear. I am sure all the indicators that she tested did indicate she was not neurologically the same as what one would expect " typical " babies to do at that point. Regardless she does have CHARGE and we are all here to say, wait and see and let Amelie show you and them what she can do. We all have docs we would like to take our child back to visit - stick out our tongues and say, " told you so " at least in our primal moments, which can get triggered easily for mama bears. Kim > GRRRRRRRRRR i really dont like her for it! > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 13, 2006 Report Share Posted January 13, 2006 I love it 'true mama bear' thats how i feel today, protective, calm, happy and so content, she has been playful all day , and some new things, she even started sticking her tongue out, like she knew what she was up to! Glad there is no need to worry about all the numbers in the DNA sequence, its one less to worry about, even better my girls will be ok later in life. FRIDAY 13th!!!!!!!! no problem!!!!!!!!!!! mind you its only 11.37pm, i will probably trip up smack my head and fall down the stairs theres time for me yet!!!! good night all from chan clan (mama bear) UK sunny all year round.....NOT > > > GRRRRRRRRRR i really dont like her for it! > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 13, 2006 Report Share Posted January 13, 2006 Good news... I remember that testing time grrrrrr.... it was so frustrating waiting...(we werent told how long it would take for results to come back), we also were negative. I was also relieved for the same reason. xo Forgot to tell you all why I am so happy today. > > the genetics doctor rang to say Darren and I tested negative to the > CHD7 mutation. our cloods went to holland 6 months ago and they came > back today. > I wanted to shout it from the roof tops, I was worried my three other > girls might go on to have a baby and they might risk charge, and so I > was panicking about this as well, and as a granparent we would have > been worried the whole pregnancy, the eldest is 11 i know what you are > all thinking!!! slow down lesley. > > Also I think I always thought because i too have had a PDA ligation > when i was a baby, well i thought i had caused her to get charge, so i > thought i had the charge mutation hereditry, am i making sense. > > thats my good news for today > > LOL LOL Lesley > > > > > > 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 January 13, 2006 Report Share Posted January 13, 2006 over my head :-) x > Dear > > so i dont get my knickers in a twist, i will type exactly what her > letter said for you it means nothing to me!! > > results Pathogenic mutation IVS27+1G>A heterozygously detected in > the CHD7 gene by sequence analysis. > Conclusion these results confirm diagnosis of charge syndrome caused > my mutation. > > If it means anything let me know > > love lesley > > > > > > >> >> Lesley, >> Did Amelie test positive for the mutation? (I forget if you said > before, sorry!) I'm glad for your happy news! >> >> >> >> Weir >> Home: lisaweir@r... >> Work: lisa.weir@n... >> Phone: >> Web: http://ca.geocities.com/weirfamily@r... >> >> >> >> >> >> >> >> >> >> >> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 13, 2006 Report Share Posted January 13, 2006 Lesley, We had an opportunity to talk to a person from the Houston Genetic study who explained beautifully what all the " gobbledy-gook " meant. I understood it completely when she explained it. Is there someone who can explain it to you? Maybe Meg can? Weir Home: lisaweir@... Work: lisa.weir@... Phone: Web: http://ca.geocities.com/weirfamilyrogers Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 14, 2006 Report Share Posted January 14, 2006 soo she tested positive for the mutation. What about the rest of the family? Sorry i dont want to dampen anything, wasnt my intention. Im just currious. Chantelle > > Lesley, > We had an opportunity to talk to a person from the Houston Genetic study who explained beautifully what all the " gobbledy-gook " meant. I understood it completely when she explained it. Is there someone who can explain it to you? Maybe Meg can? > > > > > > Weir > Home: lisaweir@r... > Work: lisa.weir@n... > Phone: > Web: http://ca.geocities.com/weirfamily@r... > > > > > > > > > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 14, 2006 Report Share Posted January 14, 2006 Lesley, That is so great!! One less thing to worry about!! Hugs, Crystal and Eva (9 month charger) > > Forgot to tell you all why I am so happy today. > > the genetics doctor rang to say Darren and I tested negative to the > CHD7 mutation. our cloods went to holland 6 months ago and they came > back today. > I wanted to shout it from the roof tops, I was worried my three other > girls might go on to have a baby and they might risk charge, and so I > was panicking about this as well, and as a granparent we would have > been worried the whole pregnancy, the eldest is 11 i know what you are > all thinking!!! slow down lesley. > > Also I think I always thought because i too have had a PDA ligation > when i was a baby, well i thought i had caused her to get charge, so i > thought i had the charge mutation hereditry, am i making sense. > > thats my good news for today > > LOL LOL Lesley > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 14, 2006 Report Share Posted January 14, 2006 way cool lover you ellen uk sunny LOL wat bout snowing lol > > Lesley, > > That is so great!! One less thing to worry about!! > > Hugs, > Crystal and Eva (9 month charger) > > > > > > Forgot to tell you all why I am so happy today. > > > > the genetics doctor rang to say Darren and I tested negative to > the > > CHD7 mutation. our cloods went to holland 6 months ago and they > came > > back today. > > I wanted to shout it from the roof tops, I was worried my three > other > > girls might go on to have a baby and they might risk charge, and > so I > > was panicking about this as well, and as a granparent we would > have > > been worried the whole pregnancy, the eldest is 11 i know what you > are > > all thinking!!! slow down lesley. > > > > Also I think I always thought because i too have had a PDA > ligation > > when i was a baby, well i thought i had caused her to get charge, > so i > > thought i had the charge mutation hereditry, am i making sense. > > > > thats my good news for today > > > > LOL LOL Lesley > > > > > > > > > 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 January 14, 2006 Report Share Posted January 14, 2006 Chantelle wrote: soo she tested positive for the mutation. What about the rest of the family? Sorry i dont want to dampen anything, wasnt my intention. Im just currious. Chantelle Chantelle, Graeme and I tested negative, so that means we don't have the mutation but Kennedy has it independently. Weir Home: lisaweir@... Work: lisa.weir@... Phone: Web: http://ca.geocities.com/weirfamilyrogers Quote Link to comment Share on other sites More sharing options...
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