Guest guest Posted April 5, 2000 Report Share Posted April 5, 2000 Jeanne, Larry has only got the A, R, and E of CHARGE but has enough of the peripheral symptoms of CHARGE to be diagnosed as " borderline " CHARGE, mind you that was 11 years ago ! What is " Corpus Collosum " ? I have never heard of it. When Larry was first being assessed by the doctors they noted that his skin was too big for him, not grosely so (no wrinkles) but you could pinch quite a lot of skin in your fingertips. He is now 16 and has the softest skin, every teacher he has had said they loved holding his hand because it was so nice and soft. His skin is still a little big for him but no one would notice. Has anyone else noticed this with their CHARGE kids or is it unrelated ti CHARGE ? dx > Betsy > > My daughter does not have every main letter of CHARGE > either. She is missing the C, A, and the G. > > However, she has the H and the classic CHARGE ears > (low set cupped) and CHARGE face (beautiful), as well > as many minor features (corpus callosum, all the > behavior problems including sensory integration > problems), the palmar crease, and other stuff too. > Her geneticist is of the belief that this disorder, > like many other disorders such as autism or MR, has a > wide spectrum of those who qualify ranging from mild > to severe. She considers Caitlyn in the mild range, > or possibly a " variation of CHARGE syndrome " . > Particularly because she knows it's a syndrome but > doesn't fit any other syndrome nearly as well as > CHARGE. > > BTW, the difference between a syndrome and association > is that syndrome is the term for a disorder caused by > a specific defect in the gene(s) (which many > geneticists believe is the case here though the > gene(s) have not been identified yet. An association > is the term used for those when they don't know the > cause of it yet (some don't want to cede that it's > definitely related to defective genes until they're > are identified. > > Jeanne > > __________________________________________________ > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 5, 2000 Report Share Posted April 5, 2000 Hi BJ, My Caleb also seems to have alot of skin, but the drs have never said anything about it. I always assumed it was because he was so thin. Besides, every time I mention something out of the ordinary that I notice, I am always told by family and friends that I am " looking " for more problems. Like I really want more to deal with (idiots). Needless to say, it's nice to be part of this group so I can talk to supportive, understanding people in the same boat. If you find out more about the loose skin and what it means, let me know. Thanks. le BJ wrote: > Jeanne, > Larry has only got the A, R, and E of CHARGE but has enough of the > peripheral symptoms of CHARGE to be diagnosed as " borderline " CHARGE, mind > you that was 11 years ago ! > What is " Corpus Collosum " ? I have never heard of it. > When Larry was first being assessed by the doctors they noted that his skin > was too big for him, not grosely so (no wrinkles) but you could pinch quite > a lot of skin in your fingertips. He is now 16 and has the softest skin, > every teacher he has had said they loved holding his hand because it was so > nice and soft. His skin is still a little big for him but no one would > notice. Has anyone else noticed this with their CHARGE kids or is it > unrelated ti CHARGE ? > dx > > > Betsy > > > > My daughter does not have every main letter of CHARGE > > either. She is missing the C, A, and the G. > > > > However, she has the H and the classic CHARGE ears > > (low set cupped) and CHARGE face (beautiful), as well > > as many minor features (corpus callosum, all the > > behavior problems including sensory integration > > problems), the palmar crease, and other stuff too. > > Her geneticist is of the belief that this disorder, > > like many other disorders such as autism or MR, has a > > wide spectrum of those who qualify ranging from mild > > to severe. She considers Caitlyn in the mild range, > > or possibly a " variation of CHARGE syndrome " . > > Particularly because she knows it's a syndrome but > > doesn't fit any other syndrome nearly as well as > > CHARGE. > > > > BTW, the difference between a syndrome and association > > is that syndrome is the term for a disorder caused by > > a specific defect in the gene(s) (which many > > geneticists believe is the case here though the > > gene(s) have not been identified yet. An association > > is the term used for those when they don't know the > > cause of it yet (some don't want to cede that it's > > definitely related to defective genes until they're > > are identified. > > > > Jeanne > > > > __________________________________________________ > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 5, 2000 Report Share Posted April 5, 2000 le, I don't think it's crazy for you to look for other things and keep on top of things. Many times parents catch things before doctors and the way I look at it is that Kennedy is my only patient, and I want to know her better than anyone. They don't have the time to focus on just her, I do. Plus, who wants more surprises in the future? I'd rather know all I can now! Mom to Kennedy 2yr old CHARGEr, 10, 8, and wife to GraemeNew Brunswick, CanadaVisit the "Weir homepage" at: http://www.geocities.com/SunsetStrip/Palms/5716ICQ #1426476 dx>> > Betsy> >> > My daughter does not have every main letter of CHARGE> > either. She is missing the C, A, and the G.> >> > However, she has the H and the classic CHARGE ears> > (low set cupped) and CHARGE face (beautiful), as well> > as many minor features (corpus callosum, all the> > behavior problems including sensory integration> > problems), the palmar crease, and other stuff too.> > Her geneticist is of the belief that this disorder,> > like many other disorders such as autism or MR, has a> > wide spectrum of those who qualify ranging from mild> > to severe. She considers Caitlyn in the mild range,> > or possibly a "variation of CHARGE syndrome".> > Particularly because she knows it's a syndrome but> > doesn't fit any other syndrome nearly as well as> > CHARGE.> >> > BTW, the difference between a syndrome and association> > is that syndrome is the term for a disorder caused by> > a specific defect in the gene(s) (which many> > geneticists believe is the case here though the> > gene(s) have not been identified yet. An association> > is the term used for those when they don't know the> > cause of it yet (some don't want to cede that it's> > definitely related to defective genes until they're> > are identified.> >> > Jeanne> >> > __________________________________________________> > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 5, 2000 Report Share Posted April 5, 2000 le, Way to go for Caleb. Hope everything is well. Angie Mom to many (one charger) and wife to joel Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 5, 2000 Report Share Posted April 5, 2000 le, I am impressed. At 23 months, was still 14 lbs 11 1/2 oz. (happened to have a report in front of me that had that on it) She didn't break the 20 lb barrier until she was around 6 or 7 years old. weighed in at 52 lbs in March. That was a gain of 6 pounds in one month. She even had trouble with feedings three different times and was on pedialyte for a total of 9 days If she keeps going, she better get taller or she will turn into a little fat girl. That is difficult to imagine. Sheryl, Mom to Mitch 14 and 13 CHARGE Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 6, 2000 Report Share Posted April 6, 2000 Thanks for the words of encouragement . I have good news of my own. After losing 8 ounces last month, Caleb has GAINED a pound!!! With all the cream, butter and gravy I put in his food, it's about time. He now weighs a whole 21 pounds. Let's hope he can keep it on now! le Mom to Caleb 21month old CHARGEr, and 3 yrs. Ontario, Canada Graeme & Weir wrote: le,I don't think it's crazy for you to look for other things and keep on top of things. Many times parents catch things before doctors and the way I look at it is that Kennedy is my only patient, and I want to know her better than anyone. They don't have the time to focus on just her, I do. Plus, who wants more surprises in the future? I'd rather know all I can now! Mom to Kennedy 2yr old CHARGEr, 10, 8, and wife to Graeme New Brunswick, Canada Visit the "Weir homepage" at: http://www.geocities.com/SunsetStrip/Palms/5716 ICQ #1426476 dx > > > Betsy > > > > My daughter does not have every main letter of CHARGE > > either. She is missing the C, A, and the G. > > > > However, she has the H and the classic CHARGE ears > > (low set cupped) and CHARGE face (beautiful), as well > > as many minor features (corpus callosum, all the > > behavior problems including sensory integration > > problems), the palmar crease, and other stuff too. > > Her geneticist is of the belief that this disorder, > > like many other disorders such as autism or MR, has a > > wide spectrum of those who qualify ranging from mild > > to severe. She considers Caitlyn in the mild range, > > or possibly a "variation of CHARGE syndrome". > > Particularly because she knows it's a syndrome but > > doesn't fit any other syndrome nearly as well as > > CHARGE. > > > > BTW, the difference between a syndrome and association > > is that syndrome is the term for a disorder caused by > > a specific defect in the gene(s) (which many > > geneticists believe is the case here though the > > gene(s) have not been identified yet. An association > > is the term used for those when they don't know the > > cause of it yet (some don't want to cede that it's > > definitely related to defective genes until they're > > are identified. > > > > Jeanne > > > > __________________________________________________ > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 6, 2000 Report Share Posted April 6, 2000 le, That's great news! Go gravy! 21 lbs is totally decent for that age. Is he tube fed or oral? If he's oral then you are really doing wonderfully! It's harder I think to get them to gain orally. Here's to keeping the pounds on! Mom to Kennedy 2yr old CHARGEr, 10, 8, and wife to GraemeNew Brunswick, CanadaVisit the "Weir homepage" at: http://www.geocities.com/SunsetStrip/Palms/5716ICQ #1426476 dx > > > Betsy > > > > My daughter does not have every main letter of CHARGE > > either. She is missing the C, A, and the G. > > > > However, she has the H and the classic CHARGE ears > > (low set cupped) and CHARGE face (beautiful), as well > > as many minor features (corpus callosum, all the > > behavior problems including sensory integration > > problems), the palmar crease, and other stuff too. > > Her geneticist is of the belief that this disorder, > > like many other disorders such as autism or MR, has a > > wide spectrum of those who qualify ranging from mild > > to severe. She considers Caitlyn in the mild range, > > or possibly a "variation of CHARGE syndrome". > > Particularly because she knows it's a syndrome but > > doesn't fit any other syndrome nearly as well as > > CHARGE. > > > > BTW, the difference between a syndrome and association > > is that syndrome is the term for a disorder caused by > > a specific defect in the gene(s) (which many > > geneticists believe is the case here though the > > gene(s) have not been identified yet. An association > > is the term used for those when they don't know the > > cause of it yet (some don't want to cede that it's > > definitely related to defective genes until they're > > are identified. > > > > Jeanne > > > > __________________________________________________ > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 6, 2000 Report Share Posted April 6, 2000 , Caleb is fed orally, and yes, it is very difficult. We've tried to get him to eat more, but he tends to gag and puke if we give him too much, so we are helpless to get him to eat more than he already is. Thanks for the words of encouragement! le Mom to Caleb 21month old CHARGEr, and 3 yrs. Ontario, Canada Graeme & Weir wrote: le,That's great news! Go gravy! 21 lbs is totally decent for that age. Is he tube fed or oral? If he's oral then you are really doing wonderfully! It's harder I think to get them to gain orally.Here's to keeping the pounds on! Mom to Kennedy 2yr old CHARGEr, 10, 8, and wife to Graeme New Brunswick, Canada Visit the "Weir homepage" at: http://www.geocities.com/SunsetStrip/Palms/5716 ICQ #1426476 dx > > > Betsy > > > > My daughter does not have every main letter of CHARGE > > either. She is missing the C, A, and the G. > > > > However, she has the H and the classic CHARGE ears > > (low set cupped) and CHARGE face (beautiful), as well > > as many minor features (corpus callosum, all the > > behavior problems including sensory integration > > problems), the palmar crease, and other stuff too. > > Her geneticist is of the belief that this disorder, > > like many other disorders such as autism or MR, has a > > wide spectrum of those who qualify ranging from mild > > to severe. She considers Caitlyn in the mild range, > > or possibly a "variation of CHARGE syndrome". > > Particularly because she knows it's a syndrome but > > doesn't fit any other syndrome nearly as well as > > CHARGE. > > > > BTW, the difference between a syndrome and association > > is that syndrome is the term for a disorder caused by > > a specific defect in the gene(s) (which many > > geneticists believe is the case here though the > > gene(s) have not been identified yet. An association > > is the term used for those when they don't know the > > cause of it yet (some don't want to cede that it's > > definitely related to defective genes until they're > > are identified. > > > > Jeanne > > > > __________________________________________________ > > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 6, 2000 Report Share Posted April 6, 2000 le- 21 lbs is wonderful!! Aubrie is now just past 21 lbs at 28 months. I hope Caleb continues to gain steadily. Those times of weight loss can be so discouraging. Michele W mom to Aubrie (28 mos) CHaRgE and (8 yrs), wife to DJ, in IL west@... le Cote wrote: Thanks for the words of encouragement . I have good news of my own. After losing 8 ounces last month, Caleb has GAINED a pound!!! With all the cream, butter and gravy I put in his food, it's about time. He now weighs a whole 21 pounds. Let's hope he can keep it on now! le Mom to Caleb 21month old CHARGEr, and 3 yrs. Ontario, Canada Quote Link to comment Share on other sites More sharing options...
Guest guest Posted April 8, 2000 Report Share Posted April 8, 2000 Hi le, Other than the initial comment by the Doctors at the Childrens Hospital about Larry's skin being too " big " it has never been mentioned again. My guess is they know so little about CHARGE now and they new even lees when Larry was a baby. As you think your little boy Caleb has it too maybe it has something to do with CHARGE. Isn't it frustrating when people accuse you of looking for or creating more problems than you are already faced with ? If we don't notice the problem and alert the Doctors and lets face it Doctors do not know everything, how can we go about getting all the help that is necessary for our kids. I never want to hear the words " Oh dear if only you had brought him to us sooner ! ) I have said in the past to other parents of children facing a challenge " follow your own gut instincts it doesn't matter what other people think, just do what you think is necessary " my now ex husband always critisised the efforts I went to to help my kids, Larry with his problems and the issues with my daughter (Belinda has had Fibromyalgia/Chronic Fatigue Syndrome since she was 13) I have improved the lives of both my children with all the alternative things I have tried, so it was worth it. If you don't know the problem is there you can't fix, sticking your head in the sand and not facing a problem doesn't make it go away it just it just means it doesn't get resolved ! Sorry I will get off my soapbox now. Bye Jan Hewitson (BJ) Perth, Mandurah, West Australia dx > > > > > Betsy > > > > > > My daughter does not have every main letter of CHARGE > > > either. She is missing the C, A, and the G. > > > > > > However, she has the H and the classic CHARGE ears > > > (low set cupped) and CHARGE face (beautiful), as well > > > as many minor features (corpus callosum, all the > > > behavior problems including sensory integration > > > problems), the palmar crease, and other stuff too. > > > Her geneticist is of the belief that this disorder, > > > like many other disorders such as autism or MR, has a > > > wide spectrum of those who qualify ranging from mild > > > to severe. She considers Caitlyn in the mild range, > > > or possibly a " variation of CHARGE syndrome " . > > > Particularly because she knows it's a syndrome but > > > doesn't fit any other syndrome nearly as well as > > > CHARGE. > > > > > > BTW, the difference between a syndrome and association > > > is that syndrome is the term for a disorder caused by > > > a specific defect in the gene(s) (which many > > > geneticists believe is the case here though the > > > gene(s) have not been identified yet. An association > > > is the term used for those when they don't know the > > > cause of it yet (some don't want to cede that it's > > > definitely related to defective genes until they're > > > are identified. > > > > > > Jeanne > > > > > > __________________________________________________ > > > Quote Link to comment Share on other sites More sharing options...
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