Guest guest Posted January 5, 2001 Report Share Posted January 5, 2001 - I agree with " wow " . I think Aubrie looks frightening on paper. But when you meet her, she's a doll and you would never know she had a " list " like that... or such a huge file with so many doctors, therapists, service providers, agencies, etc. I always like people to meet and interact with her before they hear all her stuff. In fact, I forgot a few things (like the big heart defect) and had to go back and add it. Most things just aren't a problem anymore. Oh and I forgot that she has one pelvic kidney. It's encouraging to finally feel that Aubrie is fine. I remember when I thought things would never be " ok " . However, I can't imagine how life would be if we were dealing with more complex issues like so many of the other families on the list are and so many people I know who have different disabilities or difficulties in their lives. I am hoping that nothing new pops up. Aubrie's been really obstinant and assertive lately. She can say and sign " now! " when she wants something. She tells us " stop it! " when she doesn't like something. Etc... she's exhibiting what I hope are typical 2-3 yr old behaviors. Michele W mom to Aubrie (3 yrs old) CHaRgE and (9 yrs old), wife to DJ, in IL west@... Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 5, 2001 Report Share Posted January 5, 2001 I have a 6 mo. old daughter with charge. We have just discovered the foundation, so I have tons of questions. To start off, here are a list of her symptoms: Eye: one sided coloboma (no vision), and the eye is smaller than the other. She has tested to have good vision in the other eye. Ear: cupped ear w/ no lobe, she has passed her hearing screen and seems to hear just fine, but I was wondering if anyone started out this way and had their child lose hearing? Heart: AV canal Cranial Nerve: one sided facial palsy with poor suck-swallow (also has a small jaw) Growth: has been delayed and some upper body weakness, because she doesn't have enough muscle control to lift her head for long periods of time when she is on her stomach, otherwise as far as strength, she burns all the calories off that I can get in her by kicking and playing(she is a very happy baby) 's main problem is secretions that pool in her throat due to poor swallowing. When the secretions get to bothering her she throws up. This happens several times a day (I think this is the main reason she doesn't gain weight very well, even though I put the formula right back down her because she is NG fed) My therapist says this gets better with age, but after 6 mo. of suctioning and vomiting I am beginning to wonder. Does anyone else have this problem, and does it in fact get better? , mother of (6 mo. with charge) Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 6, 2001 Report Share Posted January 6, 2001 mIchelle, I know what you mean about hoping nothting else pops us. I was just talking about that with Jeff last night. I know that with CHARGE that colobomas are not the only thing that can go wrong with their eyes and I had said ,'I hope she eventually does not pick up the others like glaucoma or astigmatism, etc.... Also she has picked up or at least they missed them her first 2 years of life, the 2 new heart defects, coarctation and tricuspid regurgitation... these were " new " that developed and you can't help but wonder, " Are we done yet???? !!!! " Foley re: symptom info needed > - > I agree with " wow " . I think Aubrie looks frightening on paper. But > when you meet her, she's a doll and you would never know she had a > " list " like that... or such a huge file with so many doctors, > therapists, service providers, agencies, etc. I always like people to > meet and interact with her before they hear all her stuff. In fact, I > forgot a few things (like the big heart defect) and had to go back and > add it. Most things just aren't a problem anymore. Oh and I forgot > that she has one pelvic kidney. > > It's encouraging to finally feel that Aubrie is fine. I remember when I > thought things would never be " ok " . However, I can't imagine how life > would be if we were dealing with more complex issues like so many of the > other families on the list are and so many people I know who have > different disabilities or difficulties in their lives. I am hoping that > nothing new pops up. Aubrie's been really obstinant and assertive > lately. She can say and sign " now! " when she wants something. She > tells us " stop it! " when she doesn't like something. Etc... she's > exhibiting what I hope are typical 2-3 yr old behaviors. > > Michele W > mom to Aubrie (3 yrs old) CHaRgE and (9 yrs old), wife to DJ, in > IL > west@... > > > " 5th International CHARGE Syndrome Conference, Indianapolis, Indiana, July > 20-22, 2001. Information will be available first in CHARGE Accounts, the > CHARGE Syndrome Foundation's newsletter. " > > For information about the CHARGE Syndrome > Foundation or to become a member (and get the newsletter) > please contact marion@... or visit > the CHARGE Syndrome Foundation web page > at http://www.chargesyndrome.org > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 6, 2001 Report Share Posted January 6, 2001 , As far as the hearing, does have chronic ear infections? Or chronic fluid on the ears?? Watch for that because that can cause hearing problems in an otherwise normal hearing child. My daughter Jillian has chronic fluid and infections. Without ear tubes, she can not hear enough to understand speech. With tubes I believe the chils has bionic hearing. She can hear a pin drop, literally!!!She could hear a mouse scamper across the attic floor from downstairs and ask what it is, etc!! Jillian did not have the cranial nerves affected so I can't help you there, but someone else will. BTW, where do you live?What state? Country? We are from all over the world on this list!!! Foley Mom to 5 yrs., ( my CHARGE angel in heaven) and Jillian my 2 yr old cHaRGE girl Re: symptom info needed > I have a 6 mo. old daughter with charge. We have just discovered the > foundation, so I have tons of questions. To start off, here are a > list of her symptoms: > > Eye: one sided coloboma (no vision), and the eye is smaller than the > other. She has tested to have good vision in the other eye. > > Ear: cupped ear w/ no lobe, she has passed her hearing screen and > seems to hear just fine, but I was wondering if anyone started out > this way and had their child lose hearing? > > Heart: AV canal > > Cranial Nerve: one sided facial palsy with poor suck-swallow > (also has a small jaw) > > Growth: has been delayed and some upper body weakness, because she > doesn't have enough muscle control to lift her head for long periods > of time when she is on her stomach, otherwise as far as strength, she > burns all the calories off that I can get in her by kicking and > playing(she is a very happy baby) > > 's main problem is secretions that pool in her throat due to poor > swallowing. When the secretions get to bothering her she throws up. > This happens several times a day (I think this is the main reason she > doesn't gain weight very well, even though I put the formula right > back down her because she is NG fed) My therapist says this gets > better with age, but after 6 mo. of suctioning and vomiting I am > beginning to wonder. Does anyone else have this problem, and does it > in fact get better? > > > , mother of (6 mo. with charge) > > > " 5th International CHARGE Syndrome Conference, Indianapolis, Indiana, July > 20-22, 2001. Information will be available first in CHARGE Accounts, the > CHARGE Syndrome Foundation's newsletter. " > > For information about the CHARGE Syndrome > Foundation or to become a member (and get the newsletter) > please contact marion@... or visit > the CHARGE Syndrome Foundation web page > at http://www.chargesyndrome.org > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 8, 2001 Report Share Posted January 8, 2001 For a quick run down, my son has: C: Facial Nerve palsy, swallowing difficulty, Colobomas of the retina, mild vision loss in left eye. H: Right aortic arch, pulmonary stenosis A: Bilateral bony Choanal Atresia R: Growth and developmental delay in all areas G: Micropenis, small testes E: Cupped external ears, moderate hearing loss in right ear, profound in the left ear Other: Bilateral cleft hands, 3 fingers on right, four on the left, breathing problems due to GI reflux even with fundo. Symptom info needed Hi everyone, I am doing an article for the reCHARGEcanada spring newsletter and I need a list of all the symptoms that children with CHARGE syndrome have. I would greatly appreciate it if you could help me by sending me a list of all your childs symptoms, I will not be using any names, it will be a list of all possible symptoms that go along with the diagnosis of CHARGE syndrome. Thank You, Debbie Cachia, Mom to 3 year old CHARGEr Susie. Debcachia@... " 5th International CHARGE Syndrome Conference, Indianapolis, Indiana, July 20-22, 2001. Information will be available first in CHARGE Accounts, the CHARGE Syndrome Foundation's newsletter. " For information about the CHARGE Syndrome Foundation or to become a member (and get the newsletter) please contact marion@... or visit the CHARGE Syndrome Foundation web page at http://www.chargesyndrome.org Quote Link to comment Share on other sites More sharing options...
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