Guest guest Posted May 29, 2003 Report Share Posted May 29, 2003 Hello to all! I am very grateful for your group email! I have learned more from you in the past couple of days than in most of my research over the past nine months. It has been a frustrating journey. My son, Will, was born with CHARGE: bilat choanal atresia, small heart defects, micropenis, bilat colobomas, and failed hearing screenings. He has since past one, but the results are now questionable. I am not happy with all of his medical care here in Augusta, GA. I am looking in particular for information about a good audiologist/ hearing evaluation and opthalmologist. I am willing to travel if the doctors are excellent with lots of experience. Can anyone recommend some for me? I also have questions about hormonal replacement. Will was recently diagnosed as hypopituitary. He's on thyroid and might be put on growth hormone pending blood levels. He is bellow the growth curve, but following it. I would love any and all input! Kim McKie Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 30, 2003 Report Share Posted May 30, 2003 If you are willing to travel, I would go to the CHARGE conference in July, in Cleveland. The specialists who really stay up on CHARGE are there and such a help. Jim Thelin is the audiologist who stays up on CHARGE and he will be there as well. Kim > Hello to all! > I am very grateful for your group email! I have learned more from you in the > past couple of days than in most of my research over the past nine months. > It has been a frustrating journey. My son, Will, was born with CHARGE: bilat > choanal atresia, small heart defects, micropenis, bilat colobomas, and failed > hearing screenings. He has since past one, but the results are now > questionable. I am not happy with all of his medical care here in Augusta, > GA. I am > looking in particular for information about a good audiologist/ hearing > evaluation and opthalmologist. I am willing to travel if the doctors are > excellent > with lots of experience. Can anyone recommend some for me? I also have > questions about hormonal replacement. Will was recently diagnosed as > hypopituitary. > He's on thyroid and might be put on growth hormone pending blood levels. He > is bellow the growth curve, but following it. I would love any and all input! > Kim McKie > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 30, 2003 Report Share Posted May 30, 2003 Kim- I can't direct you to any specialists in your area. I'm from IL and doctor in St. Louis. Perhaps it will help to know that many of the kids are difficult to evaluate as far as vision and hearing. I'm not sure what kinds of problems you are having with the specialists now, but I too was frustrated trying to figure out if Aubrie could hear or not and how much she could see. As an infant, it was just too difficult to tell. Her responses to the testing situations were unreliable. Even a sedated ABR wasn't conclusive. As she got older and could cooperate better, we were able to determine what was going on. She finally got hearing aids at age 3. In retrospect, I wish we'd gotten them at birth, but we simply didn't know if she needed them or how we'd program them if she did get them. Vision was tricky also. Our doctor has some wonderful brain testing that is done on infants -- similar to the ABR but not sedated. The child has electrodes placed on the scalp which monitor brain response while the child attends to a computer screen with visual stimuli. The doctor could tell a lot from that test, but I didn't really understand Aubrie's vision until this past year when she was able to cooperate in a standard vision test and I could see for myself what her responses were. An excellent audiologist, Dr. Jim Thelin, who speaks at the CHARGE conferences and has written part of the CHARGE manual is in KY. Perhaps that would be close enough for you. I have brought Aubrie's auditory records for him to reveiw at a conference. I suspect that he will be in OH. There may be an opthamologist or vision specialist there as well. Ann Gloyn is a wealth of knowledge about vision and hearing. She is a deafblind specialist from Canada who is on the list. I think she will be at the conference as well. If you can make it to Ohio, you will be pleasantly surprised by the knowledge there and the openness of the professionals. Good luck in your search for doctors. Let us know the specifics of your problems and there may be some answers here for you. Michele W Aubrie 5 yrs Re: ? Hello to all! I am very grateful for your group email! I have learned more from you in the past couple of days than in most of my research over the past nine months. It has been a frustrating journey. My son, Will, was born with CHARGE: bilat choanal atresia, small heart defects, micropenis, bilat colobomas, and failed hearing screenings. He has since past one, but the results are now questionable. I am not happy with all of his medical care here in Augusta, GA. I am looking in particular for information about a good audiologist/ hearing evaluation and opthalmologist. I am willing to travel if the doctors are excellent with lots of experience. Can anyone recommend some for me? I also have questions about hormonal replacement. Will was recently diagnosed as hypopituitary. He's on thyroid and might be put on growth hormone pending blood levels. He is bellow the growth curve, but following it. I would love any and all input! Kim McKie Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 30, 2003 Report Share Posted May 30, 2003 Getting in touch with Jim Thelin is the best advice-if you are not able to see him in person he will direct you to the best place for your Audiological needs. For Endo., get in touch with Kirk or Kim Blake. I don't have their e-mail addresses off hand. n-can you make that connection for us? Thanks. Good Luck. Barbara-mom,(CHARGE)9, Rosie13 Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 30, 2003 Report Share Posted May 30, 2003 Kim I'm not in the States so I don't have much info regarding docs but wanted to welcome you to the list and commend you on making changes when you aren't happy! ~ Weir Mom to Kennedy, 5yr old CHARGEr, 13, 12, and wife to Graeme Saint , New Brunswick, Canada Visit the Weir Family Website - http://personal.nbnet.nb.ca/gweir CHARGE Syndrome Canada - http://www.chargesyndrome.ca Re: ? Hello to all! I am very grateful for your group email! I have learned more from you in the past couple of days than in most of my research over the past nine months. It has been a frustrating journey. My son, Will, was born with CHARGE: bilat choanal atresia, small heart defects, micropenis, bilat colobomas, and failed hearing screenings. He has since past one, but the results are now questionable. I am not happy with all of his medical care here in Augusta, GA. I am looking in particular for information about a good audiologist/ hearing evaluation and opthalmologist. I am willing to travel if the doctors are excellent with lots of experience. Can anyone recommend some for me? I also have questions about hormonal replacement. Will was recently diagnosed as hypopituitary. He's on thyroid and might be put on growth hormone pending blood levels. He is bellow the growth curve, but following it. I would love any and all input! Kim McKie Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 6, 2003 Report Share Posted June 6, 2003 Hi Kim and welcome to the list. I am way behind. You might want to try either Emory University in Atlanta or University of Alabama in Birmingham. These are great teaching hospitals with fantastic reputations. Kay She who laughs.... LASTS Re: ? > Hello to all! > I am very grateful for your group email! I have learned more from you in the > past couple of days than in most of my research over the past nine months. > It has been a frustrating journey. My son, Will, was born with CHARGE: bilat > choanal atresia, small heart defects, micropenis, bilat colobomas, and failed > hearing screenings. He has since past one, but the results are now > questionable. I am not happy with all of his medical care here in Augusta, GA. I am > looking in particular for information about a good audiologist/ hearing > evaluation and opthalmologist. I am willing to travel if the doctors are excellent > with lots of experience. Can anyone recommend some for me? I also have > questions about hormonal replacement. Will was recently diagnosed as hypopituitary. > He's on thyroid and might be put on growth hormone pending blood levels. He > is bellow the growth curve, but following it. I would love any and all input! > Kim McKie > > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 6, 2003 Report Share Posted June 6, 2003 Hi Kim. My granddaughter has Charge. She is l6. We live in Columbus. GA. She was at Eggelston Hospital in Atlanta for two months from eight to ten months old. She had heart surgery, G. tube and trach surgery. I forgot the name of her ENT doctor but will look in her old records if you are interested. She has coloboma , right eye, is totally deaf in the right ear, but has good hearing with aid in the left ear. You would not know she is blind in the right eye . She learned very early to adjust to the loss. She used to run into the door frame but I think balance was part of that. problem. 's hearing tests were not good until about three. At that time she supposedly had some hearing in both ears, but later testing showed no hearing in the right ear. As for growth she has always been below the growth curve.. We did not have any growth hormones for her. She is now five feet tall and at l6 will probably not grow any more. Her growth was slow sometimes only l/2 an inch a year, but she is cute and does not mind being shorter than her l3 year old sister. Unfortnately we found that sometimes we knowmore about Charge than the doctors. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted June 7, 2003 Report Share Posted June 7, 2003 Thank you so much for your responce! It is so hard to muddle though so many problem areas when the doctors don't know much! I have decided to have Will's eyes rechecked here at home at MCG as it was recommended by someone at Duke. However, I haven't decided about his hearing yet and may end up at Emory. Thank you to all who responded...otherwise I would be adrift without a paddle! Kim McKie Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 25, 2009 Report Share Posted January 25, 2009 Rob, You are such a fortunate man to have a wife that is an RN and is your advocate. I remember when you had told us about your wife taking you out of the VA the night that the doctor there was refusing to treat your pain. Your new doctor sounds absolutely wonderful and on the ball with your care. I hope that the VA opens their eyes and gives you what is due to you. You served our country voluntarily and did what they asked of you to defend our freedoms. I wish that I could sit on one of those boards but I don't have the knowledge it takes. Lori Rob wrote: > > Lori, > > Also today I filed a Second GO-ROUND for benefits with the VA for my > service connected injuries for 100 % I am hoping that the get it, > last time they awarded me 80%. > > I am hoping with these new findings of CRPS and carpel tunnel in both > hands i have a fair at best shot at it. > > > Rob > Retired Military > New York > Quote Link to comment Share on other sites More sharing options...
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