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Re: [Families of Angelman Syndrome] my son derek jr.

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  • melissa st.germain
    dear holly my son has been thru 2 genetic doctors...we recently moved from boston mass. to orlando florida.i have yet to find new docs for him other than a
    Message 1 of 10 , Nov 30, 2005
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      dear holly
      my son has been thru 2 genetic doctors...we recently moved from boston mass. to orlando florida.i have yet to find new docs for him other than a pediatrition. but these other things you mentioned like upd, or ubea3, i have never heard of, so im going to bring them up when i find a new doc.i have just sent for his medical record at childrens hospital boston, so i will have it when i find a new doctor.thank you for your help, plz keep in touch. melissa

      holly kopp <deletion15mom@...> wrote:
      Hello Melissa,

      Your instincts and hunches are rarely wrong when it comes to your child so go with that! It sounds like they tested ONLY for chromosome 15 deletion and NOT UPD, UBEA3, permutations or mutations on chromosome 15. We have met a lady who had an older angelman child with UPD. You know UPD is even more rare than just deletion angelmans and pretty amazing. The lady sounds just like you! She didn't find out the first time because the test was specifically for the deletion.


      I know that receiving a diagnosis based only on clinical diagnosis of a group of features and behaviors is frustrating and there is something solid about having a genetic test with a firm diagnosis. But you already seem to know in your heart of hearts it is angelmans. I think you will find being part of this group will concrete your feeling over time.

      Do you have a genetic counselor you can speak with about pursuing genetic testing further?

      Take care,

      Holly

      melissa <stmissy71@...> wrote:
      he will be 9 yrs old on valentines day...the doctors have never been
      able to give us a positive diagnosis of angelman syndrome..because they
      are not finding it thru bloodwork. but clinicly it is amazing that he
      has amost all the spcifications, mentally and physicaly of an angelman
      child...that they have dubbed him "clinicle diagnosis of angelman
      syndrome"
      we are so frustrated...plz. can anyone relate to this? i really need to
      speak with parents or caregivers of angelman children...please help!!





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    • holly kopp
      Hello Melissa, If you would like to look at our local genetic center website in South Carolina the address is www.ggc.org There is some good information
      Message 2 of 10 , Dec 1, 2005
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        Hello Melissa,

        If you would like to look at our local genetic center website in South Carolina the address is www.ggc.org There is some good information specific to genetic testing if you have time to read through. I believe the other tests take longer (unfortunately) but hopefully you will have success in your search for a firm diagnosis.

        Maybe they could let you know of any geneticists close to you or maybe try one of the genetic research departments of the universities in north Florida.

        Thoughts are with you and much luck!

        Holly

        "melissa st.germain" <stmissy71@...> wrote:
        dear holly
        my son has been thru 2 genetic doctors...we recently moved from boston mass. to orlando florida.i have yet to find new docs for him other than a pediatrition. but these other things you mentioned like upd, or ubea3, i have never heard of, so im going to bring them up when i find a new doc.i have just sent for his medical record at childrens hospital boston, so i will have it when i find a new doctor.thank you for your help, plz keep in touch. melissa

        holly kopp <deletion15mom@...> wrote:
        Hello Melissa,

        Your instincts and hunches are rarely wrong when it comes to your child so go with that! It sounds like they tested ONLY for chromosome 15 deletion and NOT UPD, UBEA3, permutations or mutations on chromosome 15. We have met a lady who had an older angelman child with UPD. You know UPD is even more rare than just deletion angelmans and pretty amazing. The lady sounds just like you! She didn't find out the first time because the test was specifically for the deletion.


        I know that receiving a diagnosis based only on clinical diagnosis of a group of features and behaviors is frustrating and there is something solid about having a genetic test with a firm diagnosis. But you already seem to know in your heart of hearts it is angelmans. I think you will find being part of this group will concrete your feeling over time.

        Do you have a genetic counselor you can speak with about pursuing genetic testing further?

        Take care,

        Holly

        melissa <stmissy71@...> wrote:
        he will be 9 yrs old on valentines day...the doctors have never been
        able to give us a positive diagnosis of angelman syndrome..because they
        are not finding it thru bloodwork. but clinicly it is amazing that he
        has amost all the spcifications, mentally and physicaly of an angelman
        child...that they have dubbed him "clinicle diagnosis of angelman
        syndrome"
        we are so frustrated...plz. can anyone relate to this? i really need to
        speak with parents or caregivers of angelman children...please help!!





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      • knw2860
        I just wanted to tell you that we recently went through the same sort of thing. Brandon was about 15 months old when we saw the first specialist and she
        Message 3 of 10 , Dec 14, 2005
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          I just wanted to tell you that we recently went through the same sort
          of thing. Brandon was about 15 months old when we saw the first
          specialist and she instantly wanted him tested for A.S. because he had
          so many characteristics but the test came back negative. After seeing
          what seemed like hundreds of specialist they all kept saying the
          wanted to clinically diagnose him but we told them NO. I thought if
          they clinically diagnosed him they would stop looking for what was
          really wrong. That was the spring of 2002. We just moved to Florida
          and the new doctor wanted him retested for it and this time it came
          back positive. If I could say one thing to you it would be to keep
          looking for the one specialist who will look in your child's eyes and
          help you. I am so glad that we found this new doctor who retested
          him. I hope the best for you and your Angel!!
          Nicole
          --- In familiesofangelmansyndrome@yahoogroups.com, "melissa"
          <stmissy71@y...> wrote:
          >
          > he will be 9 yrs old on valentines day...the doctors have never been
          > able to give us a positive diagnosis of angelman syndrome..because they
          > are not finding it thru bloodwork. but clinicly it is amazing that he
          > has amost all the spcifications, mentally and physicaly of an angelman
          > child...that they have dubbed him "clinicle diagnosis of angelman
          > syndrome"
          > we are so frustrated...plz. can anyone relate to this? i really need to
          > speak with parents or caregivers of angelman children...please help!!
          >
        • melissa st.germain
          thank you for your respose. well, this is frustrating...im glad to see brandon did get a diognosis...our family ALSO just moved to floria this summer from
          Message 4 of 10 , Dec 16, 2005
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            thank you for your respose. well, this is frustrating...im glad to see brandon did get a diognosis...our family ALSO just moved to floria this summer from massachusetts...wher in fl. are you and who is the doctor you saw?
            we ars in orland.
            plz keep in touch, i would love to talk to you more about this.
            thanks again, love, melissa

            knw2860 <knw2860@...> wrote:

            I just wanted to tell you that we recently went through the same sort
            of thing. Brandon was about 15 months old when we saw the first
            specialist and she instantly wanted him tested for A.S. because he had
            so many characteristics but the test came back negative. After seeing
            what seemed like hundreds of specialist they all kept saying the
            wanted to clinically diagnose him but we told them NO. I thought if
            they clinically diagnosed him they would stop looking for what was
            really wrong. That was the spring of 2002. We just moved to Florida
            and the new doctor wanted him retested for it and this time it came
            back positive. If I could say one thing to you it would be to keep
            looking for the one specialist who will look in your child's eyes and
            help you. I am so glad that we found this new doctor who retested
            him. I hope the best for you and your Angel!!
            Nicole
            --- In familiesofangelmansyndrome@yahoogroups.com, "melissa"
            <stmissy71@y...> wrote:
            >
            > he will be 9 yrs old on valentines day...the doctors have never been
            > able to give us a positive diagnosis of angelman syndrome..because they
            > are not finding it thru bloodwork. but clinicly it is amazing that he
            > has amost all the spcifications, mentally and physicaly of an angelman
            > child...that they have dubbed him "clinicle diagnosis of angelman
            > syndrome"
            > we are so frustrated...plz. can anyone relate to this? i really need to
            > speak with parents or caregivers of angelman children...please help!!
            >







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          • Wells Nicole
            We are in Spring Hill, FL which is about 1 hour north of Tampa. We see Dr. Foradado who is a neurologist. We have not seen a genetics doctor down here yet
            Message 5 of 10 , Dec 16, 2005
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              We are in Spring Hill, FL which is about 1 hour north of Tampa. We see Dr. Foradado who is a neurologist. We have not seen a genetics doctor down here yet but we did see a few of them in Michigan. Dr. Foradado works out of St. Joseph Children' s hospital in Tampa. We are planning on attending the A.S.F. walk in Jacksonville FL in 2006 but I have to get more info on it. I just noticed there was going to a walk in the state so we are going to get more info and attend it along with our family and friends for support. I really would like to keep in touch and maybe if we come over that way we can meet up.

              Nicole and Brandon

              "melissa st.germain" <stmissy71@...> wrote: thank you for your respose. well, this is frustrating...im glad to see brandon did get a diognosis...our family ALSO just moved to floria this summer from massachusetts...wher in fl. are you and who is the doctor you saw?
              we ars in orland.
              plz keep in touch, i would love to talk to you more about this.
              thanks again, love, melissa

              knw2860 <knw2860@...> wrote:

              I just wanted to tell you that we recently went through the same sort
              of thing. Brandon was about 15 months old when we saw the first
              specialist and she instantly wanted him tested for A.S. because he had
              so many characteristics but the test came back negative. After seeing
              what seemed like hundreds of specialist they all kept saying the
              wanted to clinically diagnose him but we told them NO. I thought if
              they clinically diagnosed him they would stop looking for what was
              really wrong. That was the spring of 2002. We just moved to Florida
              and the new doctor wanted him retested for it and this time it came
              back positive. If I could say one thing to you it would be to keep
              looking for the one specialist who will look in your child's eyes and
              help you. I am so glad that we found this new doctor who retested
              him. I hope the best for you and your Angel!!
              Nicole
              --- In familiesofangelmansyndrome@yahoogroups.com, "melissa"
              <stmissy71@y...> wrote:
              >
              > he will be 9 yrs old on valentines day...the doctors have never been
              > able to give us a positive diagnosis of angelman syndrome..because they
              > are not finding it thru bloodwork. but clinicly it is amazing that he
              > has amost all the spcifications, mentally and physicaly of an angelman
              > child...that they have dubbed him "clinicle diagnosis of angelman
              > syndrome"
              > we are so frustrated...plz. can anyone relate to this? i really need to
              > speak with parents or caregivers of angelman children...please help!!
              >







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            • melissa st.germain
              my sister-in-law s family live in spring hill, you arent too far from us. i would love to get together....and talk to you about symptoms the boys may
              Message 6 of 10 , Dec 16, 2005
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                my sister-in-law's family live in spring hill, you arent too far from us. i would love to get together....and talk to you about symptoms the boys may share.riht now he is waiting for his bath...(he LOVES) the water....so i will get back in touch with you...thnx again.....melissa.

                Wells Nicole <knw2860@...> wrote: We are in Spring Hill, FL which is about 1 hour north of Tampa. We see Dr. Foradado who is a neurologist. We have not seen a genetics doctor down here yet but we did see a few of them in Michigan. Dr. Foradado works out of St. Joseph Children' s hospital in Tampa. We are planning on attending the A.S.F. walk in Jacksonville FL in 2006 but I have to get more info on it. I just noticed there was going to a walk in the state so we are going to get more info and attend it along with our family and friends for support. I really would like to keep in touch and maybe if we come over that way we can meet up.

                Nicole and Brandon

                "melissa st.germain" <stmissy71@...> wrote: thank you for your respose. well, this is frustrating...im glad to see brandon did get a diognosis...our family ALSO just moved to floria this summer from massachusetts...wher in fl. are you and who is the doctor you saw?
                we ars in orland.
                plz keep in touch, i would love to talk to you more about this.
                thanks again, love, melissa

                knw2860 <knw2860@...> wrote:

                I just wanted to tell you that we recently went through the same sort
                of thing. Brandon was about 15 months old when we saw the first
                specialist and she instantly wanted him tested for A.S. because he had
                so many characteristics but the test came back negative. After seeing
                what seemed like hundreds of specialist they all kept saying the
                wanted to clinically diagnose him but we told them NO. I thought if
                they clinically diagnosed him they would stop looking for what was
                really wrong. That was the spring of 2002. We just moved to Florida
                and the new doctor wanted him retested for it and this time it came
                back positive. If I could say one thing to you it would be to keep
                looking for the one specialist who will look in your child's eyes and
                help you. I am so glad that we found this new doctor who retested
                him. I hope the best for you and your Angel!!
                Nicole
                --- In familiesofangelmansyndrome@yahoogroups.com, "melissa"
                <stmissy71@y...> wrote:
                >
                > he will be 9 yrs old on valentines day...the doctors have never been
                > able to give us a positive diagnosis of angelman syndrome..because they
                > are not finding it thru bloodwork. but clinicly it is amazing that he
                > has amost all the spcifications, mentally and physicaly of an angelman
                > child...that they have dubbed him "clinicle diagnosis of angelman
                > syndrome"
                > we are so frustrated...plz. can anyone relate to this? i really need to
                > speak with parents or caregivers of angelman children...please help!!
                >







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