Guest guest Posted February 1, 2011 Report Share Posted February 1, 2011 My layman's guess is that like most of the children, your son may have multiple issues.. and among them is damaged gut. Best Wishes, Moderator > > Hi > > After 27 years, a " newer " chromosome test (array CGH) finally identified our son's cause of autism. He has " Phelan Mcdermid Syndrome " (Check out 22q13.org). Even though our son had NONE of the physical characteristics of this disorder (i.e. deformed ears, droopy eyelids), he has most of the autistic characteristics of this disorder. > > Have any of you ever heard of this disorder? I'm VERY supportive of DAN doctors, but I'm surprised that no DAN doctor has ever suggested more chromosome testing for our son. I still firmly believe that environmental factors are a significant part of our son's challenges, but we think defining the " genetic predisposition " concerning his autism is crucial too. > > If anyone on this list has more info on this disorder, we'd love to hear from them. We have so many new questions now! For example...In the various Phelan Mcdermid literature it says that no special diet will help these kids and yet our son improved greatly in all areas when we started the GFCF diet back when he was 4 years old. (And he still does better even now on the GFCF diet). Why would the diet help this chromosome deletion? > > Dorothy > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 2, 2011 Report Share Posted February 2, 2011 Dorothy I have never heard of this. However, I received a call today from Arkansas children's Hospital genetic that our daughter has Chromosome 1p21.3 duplication and I cannot find anything on it. I was told today it is characteristic of autism. I have no idea what any of this means. I feel very lost right now because I simply cannot find any information regarding this. I know that our daughter has progressed with biomedical intervention as well as auditory integration and vision therapy. The genetic part is new to me and our daughter is 16. Shari From: csb-autism-rx [mailto:csb-autism-rx ] On Behalf Of dorothys99 Sent: Tuesday, February 01, 2011 1:57 PM To: csb-autism-rx Subject: Found cause of our son's autism! Hi After 27 years, a " newer " chromosome test (array CGH) finally identified our son's cause of autism. He has " Phelan Mcdermid Syndrome " (Check out 22q13.org). Even though our son had NONE of the physical characteristics of this disorder (i.e. deformed ears, droopy eyelids), he has most of the autistic characteristics of this disorder. Have any of you ever heard of this disorder? I'm VERY supportive of DAN doctors, but I'm surprised that no DAN doctor has ever suggested more chromosome testing for our son. I still firmly believe that environmental factors are a significant part of our son's challenges, but we think defining the " genetic predisposition " concerning his autism is crucial too. If anyone on this list has more info on this disorder, we'd love to hear from them. We have so many new questions now! For example...In the various Phelan Mcdermid literature it says that no special diet will help these kids and yet our son improved greatly in all areas when we started the GFCF diet back when he was 4 years old. (And he still does better even now on the GFCF diet). Why would the diet help this chromosome deletion? Dorothy Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 2, 2011 Report Share Posted February 2, 2011 I came across this website and thought I'd email it to everyone just in case you weren't aware of it. It's a non-profit organization in the US for chromosone disorders...Education, Advocacy, Information & Support For all those affected by a rare chromosome disorder. http://www.chromodisorder.org/CDO/Default.aspx Found cause of our son's autism! Hi After 27 years, a " newer " chromosome test (array CGH) finally identified our son's cause of autism. He has " Phelan Mcdermid Syndrome " (Check out 22q13.org). Even though our son had NONE of the physical characteristics of this disorder (i.e. deformed ears, droopy eyelids), he has most of the autistic characteristics of this disorder. Have any of you ever heard of this disorder? I'm VERY supportive of DAN doctors, but I'm surprised that no DAN doctor has ever suggested more chromosome testing for our son. I still firmly believe that environmental factors are a significant part of our son's challenges, but we think defining the " genetic predisposition " concerning his autism is crucial too. If anyone on this list has more info on this disorder, we'd love to hear from them. We have so many new questions now! For example...In the various Phelan Mcdermid literature it says that no special diet will help these kids and yet our son improved greatly in all areas when we started the GFCF diet back when he was 4 years old. (And he still does better even now on the GFCF diet). Why would the diet help this chromosome deletion? Dorothy Quote Link to comment Share on other sites More sharing options...
Guest guest Posted February 2, 2011 Report Share Posted February 2, 2011 Thank you. Shari From: csb-autism-rx [mailto:csb-autism-rx ] On Behalf Of Sent: Wednesday, February 02, 2011 4:58 PM To: csb-autism-rx Subject: Re: Found cause of our son's autism! I came across this website and thought I'd email it to everyone just in case you weren't aware of it. It's a non-profit organization in the US for chromosone disorders...Education, Advocacy, Information & Support For all those affected by a rare chromosome disorder. http://www.chromodisorder.org/CDO/Default.aspx Found cause of our son's autism! Hi After 27 years, a " newer " chromosome test (array CGH) finally identified our son's cause of autism. He has " Phelan Mcdermid Syndrome " (Check out 22q13.org). Even though our son had NONE of the physical characteristics of this disorder (i.e. deformed ears, droopy eyelids), he has most of the autistic characteristics of this disorder. Have any of you ever heard of this disorder? I'm VERY supportive of DAN doctors, but I'm surprised that no DAN doctor has ever suggested more chromosome testing for our son. I still firmly believe that environmental factors are a significant part of our son's challenges, but we think defining the " genetic predisposition " concerning his autism is crucial too. If anyone on this list has more info on this disorder, we'd love to hear from them. We have so many new questions now! For example...In the various Phelan Mcdermid literature it says that no special diet will help these kids and yet our son improved greatly in all areas when we started the GFCF diet back when he was 4 years old. (And he still does better even now on the GFCF diet). Why would the diet help this chromosome deletion? Dorothy Quote Link to comment Share on other sites More sharing options...
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