Guest guest Posted March 28, 2005 Report Share Posted March 28, 2005 In a message dated 3/28/2005 9:43:54 PM Eastern Standard Time, angie@... writes: so far I personally know (all women, no boys/men) four type 2's (2-39 2-38), and one type one who is also 38. How accurately they were diagnosed they can't say, they don't remember and are not concerned enough as I am to bother learning more I was diagnosed, at three months of age, with SMA Type 1, and have been one of the odd ones in that I wanted to be certain I was given the right diagnosis. Being that I am 33 years old and have two little giirls, my diagnosis has frequently flip-flopped, but with absolutely no certainty. According to doctors who are big into SMA, I am indeed a Type 1 based on milestones reached/failed throughout my life. However, bloodwork has shown that I have 4 copies of SMN2, whereas most Type 1's have only 2 copies and many Type 2's have only 3 copies. Why...that nobody has yet been able to answer! Amy M. Marquez McHenry, Illinois Families of Spinal Muscular Atrophy - Vice President Chicagoland Chapter Spinal Muscular Atrophy (SMA) - Type 1 Mom to le Coral - Born July 19, 1999 Mom to Harley Jasmine - Born March 9, 2004 Quote Link to comment Share on other sites More sharing options...
Guest guest Posted March 29, 2005 Report Share Posted March 29, 2005 What type of test did you have done to determine the number of copies you have? We've actually never had anything other than motor neuron conduction velocity testing to diagnose Jordan, but since his symptoms were so classical for SMA they didn't go any farther with doing a biopsy. Since there are blood test to confirm now, we're considering having that done to be 100% certain...just in case there happens to be a treatment option made available sometime in the future (we're praying for one soon). Jay Re: Typing In a message dated 3/28/2005 9:43:54 PM Eastern Standard Time, angie@... writes: so far I personally know (all women, no boys/men) four type 2's (2-39 2-38), and one type one who is also 38. How accurately they were diagnosed they can't say, they don't remember and are not concerned enough as I am to bother learning more I was diagnosed, at three months of age, with SMA Type 1, and have been one of the odd ones in that I wanted to be certain I was given the right diagnosis. Being that I am 33 years old and have two little giirls, my diagnosis has frequently flip-flopped, but with absolutely no certainty. According to doctors who are big into SMA, I am indeed a Type 1 based on milestones reached/failed throughout my life. However, bloodwork has shown that I have 4 copies of SMN2, whereas most Type 1's have only 2 copies and many Type 2's have only 3 copies. Why...that nobody has yet been able to answer! Amy M. Marquez McHenry, Illinois Families of Spinal Muscular Atrophy - Vice President Chicagoland Chapter Spinal Muscular Atrophy (SMA) - Type 1 Mom to le Coral - Born July 19, 1999 Mom to Harley Jasmine - Born March 9, 2004 Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 5, 2005 Report Share Posted May 5, 2005 In a message dated 3/29/2005 8:49:07 AM Eastern Standard Time, jondus@... writes: What type of test did you have done to determine the number of copies you have? We've actually never had anything other than motor neuron conduction velocity testing to diagnose Jordan, but since his symptoms were so classical for SMA they didn't go any farther with doing a biopsy. Since there are blood test to confirm now, we're considering having that done to be 100% certain...just in case there happens to be a treatment option made available sometime in the future (we're praying for one soon). I'm unaware of the test name which I had done, but it required a simple blood draw and it was performed by Dr. Swaboda at last year's FSMA Conference. She could give you way more info than I ever could... Amy M. Marquez Spinal Muscular Atrophy (SMA) - Type 1 Mom to le Coral - Born July 19, 1999 Mom to Harley Jasmine - Born March 9, 2004 Colette - Retired Deceased Service Dog Ella - Retired Service Dog Loved Family Pets - Nala, the Lovable Lab; Dusty, the Snow-Gray Dwarf Bunny; Angel, the Angelic-White Guinea Pig Quote Link to comment Share on other sites More sharing options...
Guest guest Posted May 27, 2006 Report Share Posted May 27, 2006 Doris, I started using Dragon Naturally Speaking for my writing and for long emails. It works fairly well, although you have to really train it... I am only capable of typing with my two pointer fingers. Was a secretary -receptionist and had great speed at typing before RA. Quote Link to comment Share on other sites More sharing options...
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