Guest guest Posted January 5, 2012 Report Share Posted January 5, 2012 Several months ago I asked for help with Craig and his hygiene issues after bowel movements. Many of you responded with great ideas and I got caught up with something else and never came back to thank you. I still haven't done it, but I have the bidet that mentioned bookmarked and plan to order in. So this is a very belated thank you! Joan, when you talk about kids with DS/ASD not fitting the typical autism profile (learning speech then regressing, among other things) I think about how that is just like Magenis Syndrome. Many of our kids have been diagnosed late (it took 11 years for Craig) and before the SMS dx they had a dx of ASD or PDD, ODD, etc. Craig showed definite signs of autism by the time he was about one, but clearly didn't meet all the criteria for an autism dx. He's so similar to the kids/young adults on this groups--tape rewind syndrome, twirling, avoiding eye contact, etc. Lucky for me he didn't get the stop/drop/flop many of you experience! SMS is caused by a deletion on the 17th chromosome. And that is why I am here--often Craig is more like the kids here than on the SMS groups! Bev, mom to Craig, 25, Magenis Syndrome, in cold PA Quote Link to comment Share on other sites More sharing options...
Guest guest Posted January 5, 2012 Report Share Posted January 5, 2012 And you're always welcome here Bev! But you knew that.The delay in diagnosis is due to diagnositic overshadowing. This isactually a good term for all of you to learn. It's the technical term for a doctor/therpist/teacher thinking, " I'ts just the down syndrome. " Sometimes it is. It takes a skilled eye to know the difference between what's " normal DS " and what is outside of the bell curve. So when in a medical strugle, the sentence is, " I'm concerned we may all be distracted by diagnostic overshadowing and would like you to look at this outside of what you believe could be down syndrome. What would you do for a child who does NOT have a disability? What are the possiblities? " this is often true for GI symptoms, colds, " regression, " etc.You go Bev! Can't wait to hear the bidfet story!Joan Joan Guthrie Medlen, MEd, RD DownSyndromeNutrition.com twitter: @jmedlen Create Your Family's Vision of Health for 2012 Saturday, January 14 @10am PT  Several months ago I asked for help with Craig and his hygiene issues after bowel movements. Many of you responded with great ideas and I got caught up with something else and never came back to thank you. I still haven't done it, but I have the bidet that mentioned bookmarked and plan to order in. So this is a very belated thank you! Joan, when you talk about kids with DS/ASD not fitting the typical autism profile (learning speech then regressing, among other things) I think about how that is just like Magenis Syndrome. Many of our kids have been diagnosed late (it took 11 years for Craig) and before the SMS dx they had a dx of ASD or PDD, ODD, etc. Craig showed definite signs of autism by the time he was about one, but clearly didn't meet all the criteria for an autism dx. He's so similar to the kids/young adults on this groups--tape rewind syndrome, twirling, avoiding eye contact, etc. Lucky for me he didn't get the stop/drop/flop many of you experience! SMS is caused by a deletion on the 17th chromosome. And that is why I am here--often Craig is more like the kids here than on the SMS groups!  Bev, mom to Craig, 25, Magenis Syndrome, in cold PA Quote Link to comment Share on other sites More sharing options...
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