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Re: [Families of Angelman Syndrome] New to Group

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  • holly kopp
    Hello again Leslie, Thanks for the extra details about Trina s seizures. Aden does seem to get the staring type seizure whenever he has a high fever and he
    Message 1 of 14 , Jan 1, 2006
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      Hello again Leslie,

      Thanks for the extra details about Trina's seizures. Aden does seem to get the "staring" type seizure whenever he has a high fever and he will have his tongue stick in and out and make small choke noises. I just hold him at a slight angle and hug him and talk to him and rub his back, legs, and arms, and he comes right out of it. When he comes out of it he will usually vomit and poop and pee his diaper and then just be really tried. I bathe him, and just cuddle him for a few hours after that to make absolutely sure he is alright.

      Hope you have a Happy New Year!

      Holly

      Leslie Rodriguez <babybo22000@...> wrote:
      Dear Holly,

      Thanks for the kind words, about being a great Mom! Just hang in there with the potty training it will be worth it in the long run!

      About Trina's seizures, she is on Depakote 2X's a day and Valium 3X's a day. We have had a hard time with finding the right combo of meds for her. She has been on all of the seizure drugs that are out on the market. Her Nero Doc. use to joke that we are going to run of meds for her one day. But thank god we have not!! She usually goes a few day's with out seizures but we have been up to 50 to 100+ seizures a day until we were able to get her under control. When we move or she is sick or overly stressed they will increase. We also have the staring seizures but those a less frequent then the head jerks and sometime they can knock her down, but she usually can feel them coming on and she will hang on to something or someone.

      I'm glad that Aden is doing so well with his meds. I do wish that Trina had out grown her seizures but I guess that was not in the big picture for us!!

      Leslie

      holly kopp <deletion15mom@...> wrote:
      Dear Leslie and Catrina,

      So glad you found us here! I'm so impressed with you for being a great Mom! My angel is only 4 but the potty training is a big issue for us right now but I really do have hope and we are relentless with him and maybe in a few years it will all be worth it!

      I'm excited your daughter is potty trained! This gives me renewed hope that all of our efforts are NOT in vain.

      I can ONLY imagine how busy you are with Catrina but as you are an "experienced" angel parent would you take a peek at www.angelmansyndromeforum.org . There are angels of ALL ages represented there as well. You would be a great addition! I would love to hear advice on toileting and how you did it! Did I mention I was soo impressed by that!?

      Now, I also briefly wanted to ask you about your daughter's seizures. You said she has the "jerk" seizures. I know how much I hate ANY of the seizures the angels have. I really thought I was going to get out of the seizure thing but as soon as my little guy turned 3 he had a few grand mals and then we got his major abnormal EEG test back and he takes Topomax. He is four. I have read and heard that many angels can outgrow the seizures but then many do not. May I ask how the neuro is dealing with the jerk seizures? Is Catrina on different meds or NO meds. I hate the fact we have to use any kind of meds for my 4 yr old but after seeing him suffer through the seizures and then having such a positive result with the Topomax-well I am now willing.

      Hope to hear more from you on this Yahoo Group.

      Holly and Aden (Age 4)

      babybo22000 <babybo22000@...> wrote:
      I just found this group while I looking up info on Angelmans, My
      daughter Catrina will be 24 yrs old. on Jan. 7th and still lives at
      home, she was diagnosed when she was 10 yrs old. She is a hand full I'm
      not going to lie. She say's about 6 words and learned how to walk when
      she was 3 1/2 years old. She has been potty trained since she was 12
      yrs old, it took a while but worth the effort. She does still have
      accidents and that's okay. She still has seizures we were not one of
      the lucky ones!! she did not out grow them like her Nero Dr. had hoped
      she would. So she has head Jerks seizures that can keep us pretty busy
      some days.

      Well I just wanted to say Hi, and introduce my daughter and my self
      (Leslie Rodriguez) Hope to talk to some of you soon.

      Leslie





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    • way2yz4u
      Hello, My name is Cathy and my daughter Jennifer is 3 1/2 yrs old. Although she hasn t been formally diagnosed with Angelman, the test results back in Sept
      Message 2 of 14 , Jan 30, 2006
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        Hello,

        My name is Cathy and my daughter Jennifer is 3 1/2 yrs old. Although
        she hasn't been formally diagnosed with Angelman, the test results
        back in Sept '04 came back negative, she exhibits most all of the
        characteristics. I am in the process of obtaining the names of the
        tests that were administered to send via email to Sheila Wenger, of
        the Angelman Syndrome Foundation (at www.angelman.org). She believes
        Jennifer does have the syndrome from what I have told her.

        Anyhow, Jennifer is a very bright, happy, VERY energetic (I call her
        my little Energizer Bunny!!) child who loves music, Blue's Clue's, and
        playing on the computer! She is developmentally delayed, no firm
        diagnosis yet, and she is expressive speech delayed. She has GREAT
        receptive language but only knows a few words and does not use them
        much at all. She has recently started having Absence Seizures, which
        have shown up on a recent EEG. She attends a special needs preschool
        five days a week for 4 hrs each day. She loves going to school, from
        what I can gather as she doesn't speak. She is very friendly and not
        shy at all.

        Can anyone relate to the forementioned? And, is there hope for an
        expressive speech delayed child with Angelman Syndrome to ever speak??

        Thank you!

        Cathy
        Mom to Jennifer 3.7 DD, possible AS
        and Lauren, 11 'normal'
      • fronkfam
        Hi, My name is Teri. I live in Utah. My six year old son Brayden, might have AS. We were told at 15 months that he probably had Autism. We were given a
        Message 3 of 14 , May 6, 2006
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          Hi,

          My name is Teri. I live in Utah. My six year old son Brayden, might
          have AS. We were told at 15 months that he probably had Autism. We
          were given a diagnosis of Autism at age 3 when he started attending a
          preschool for kids with Autism. He started having seizures at 3.5
          years old. At the time seizures started, we had some genetic testing
          done. The doctor didn't test for Angelman because Brayden didn't fit
          the symptom of having a small head. Now our neurologist is requesting
          he be tested.

          I don't know much about Angelman. Our lives have revolved around
          Autism for so long, but Brayden was always different from other kids
          with Autism.

          Any information you could share would really be appreciated.

          Thanks,
          Teri
        • nicole Wygonik
          I feel the same way that you do about not fitting. My son was diagnosed with Autism at 2. We are going through our second set of tests for Angelman right
          Message 4 of 14 , May 6, 2006
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            I feel the same way that you do about not fitting. My
            son was diagnosed with Autism at 2. We are going
            through our second set of tests for Angelman right
            now. The first test for deletion came back negative.
            My son will be 4 in a month. My son has a small head
            but knock on wood....no seizures. Besides the
            seizures what other signs does your son have? I have
            accepted the autism diagnosis because I have lived
            with the belief he had it since he was 16 months. I
            have already grieved over the autism diagnosis and am
            scared to have to try and fit in somewhere else.

            Nicole

            --- fronkfam <fronkfam@...> wrote:

            > Hi,
            >
            > My name is Teri. I live in Utah. My six year old
            > son Brayden, might
            > have AS. We were told at 15 months that he probably
            > had Autism. We
            > were given a diagnosis of Autism at age 3 when he
            > started attending a
            > preschool for kids with Autism. He started having
            > seizures at 3.5
            > years old. At the time seizures started, we had
            > some genetic testing
            > done. The doctor didn't test for Angelman because
            > Brayden didn't fit
            > the symptom of having a small head. Now our
            > neurologist is requesting
            > he be tested.
            >
            > I don't know much about Angelman. Our lives have
            > revolved around
            > Autism for so long, but Brayden was always different
            > from other kids
            > with Autism.
            >
            > Any information you could share would really be
            > appreciated.
            >
            > Thanks,
            > Teri
            >
            >
            >
            >
            >

            Nicole Schacht

            __________________________________________________
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          • Robbie Montgomery
            We thought Sawyer s difficulties were due to a virus called CMV. I had accepted that too until she started having drop seizures I didn t know what they were
            Message 5 of 14 , May 7, 2006
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              We thought Sawyer's difficulties were due to a virus called CMV. I had
              accepted that too until she started having "drop seizures" I didn't know
              what they were at the time. I thought she was over tired or it was just
              due to her poor balance.She would be standing up and then eyes shut
              briefly and she would catch herself before falling or just fall. They were
              only once in a while a year ago but then they started happening like 10
              times a day. We went to the neurologist and the first test too came back
              negative but then they did another specific test FISCH test I think and it
              was positive. We met with geneticists a couple of weeks ago and they took
              my husbands blood and mine to see if this was caused between the two of us
              or if it is something in my family genes.

              She has two characteristics which don't totally fit AS. She has retinal
              scarring and she has protowords which start with /b and p/. She has names
              for things and different vocalizations. However, everything else fits AS.
              She is walking and starting to jump and run. I feel she has come so far
              due to therapy which started when she was 3 months old.

              Robbie

              Robbie Montgomery, M.S, SLP-CCC
              Speech-Language Pathologist
            • momanddad Warnock
              HI, my name is Jean and our son is Robert, deletion positive at the age of 5. Previously they told us he had cerebral palsy, but we could never quite
              Message 6 of 14 , May 7, 2006
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                HI, my name is Jean and our son is Robert, deletion positive at the age of 5. Previously they told us he had cerebral palsy, but we could never quite understand that diagnosis because he didn't really fit any of the particular kinds of cp. It was to say the least, very frustrating, then came the suspicion of AS. We had him tested and well it was almost like a blessing in disguise, because when we received the info on AS, there was our beautiful son. It made such perfect sense, he does not have the small head, either, but did start having seizures at the age of 16 months. He is very much under control and is really, at the age of 17, not bothered by them very much. He is still taking anti seizure meds, because the last time we tried to wean him off, he had a bad seizure. To us it was not worth it, they seem to get less and less after they go thru puberty!!! Yes, they go thru puberty just like our other children. Robert is fourth in the line of 5 wonderful children!
                I sympathize with you mourning over one diagnosis and then having to start all over again with another, but as I said it, for us, was much better than not knowing.
                So many of your children on this board are so much younger than our son, and pretty much all seem to be walking, our son was never able too. Although it was sad for along time, now it is just a way of life for us, he is able to crawl and mostly scoot around on his bottom. He is very happy and a joy to have, we thank God for him and accept the challenge of raising one of Gods special people.
                Take care and if you have any questions, feel free to ask!
                Jean

                nicole Wygonik <neschacht@...> wrote:
                I feel the same way that you do about not fitting. My
                son was diagnosed with Autism at 2. We are going
                through our second set of tests for Angelman right
                now. The first test for deletion came back negative.
                My son will be 4 in a month. My son has a small head
                but knock on wood....no seizures. Besides the
                seizures what other signs does your son have? I have
                accepted the autism diagnosis because I have lived
                with the belief he had it since he was 16 months. I
                have already grieved over the autism diagnosis and am
                scared to have to try and fit in somewhere else.

                Nicole

                --- fronkfam <fronkfam@...> wrote:

                > Hi,
                >
                > My name is Teri. I live in Utah. My six year old
                > son Brayden, might
                > have AS. We were told at 15 months that he probably
                > had Autism. We
                > were given a diagnosis of Autism at age 3 when he
                > started attending a
                > preschool for kids with Autism. He started having
                > seizures at 3.5
                > years old. At the time seizures started, we had
                > some genetic testing
                > done. The doctor didn't test for Angelman because
                > Brayden didn't fit
                > the symptom of having a small head. Now our
                > neurologist is requesting
                > he be tested.
                >
                > I don't know much about Angelman. Our lives have
                > revolved around
                > Autism for so long, but Brayden was always different
                > from other kids
                > with Autism.
                >
                > Any information you could share would really be
                > appreciated.
                >
                > Thanks,
                > Teri
                >
                >
                >
                >
                >

                Nicole Schacht

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              • fronkfam
                Nicole, I don t know much about Angelman, but a few things that seem to fit Brayden are the always happy attitude and laughing at nothing. He has never
                Message 7 of 14 , May 7, 2006
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                  Nicole,

                  I don't know much about Angelman, but a few things that seem to fit
                  Brayden are the always happy attitude and laughing at nothing. He has
                  never talked. Most of the kids I know with Autism spoke then lost
                  that ability, Brayden never had any words. Other than that, I don't
                  know too much.

                  Teri




                  --- In familiesofangelmansyndrome@yahoogroups.com, nicole Wygonik
                  <neschacht@...> wrote:
                  >
                  > I feel the same way that you do about not fitting. My
                  > son was diagnosed with Autism at 2. We are going
                  > through our second set of tests for Angelman right
                  > now. The first test for deletion came back negative.
                  > My son will be 4 in a month. My son has a small head
                  > but knock on wood....no seizures. Besides the
                  > seizures what other signs does your son have? I have
                  > accepted the autism diagnosis because I have lived
                  > with the belief he had it since he was 16 months. I
                  > have already grieved over the autism diagnosis and am
                  > scared to have to try and fit in somewhere else.
                  >
                  > Nicole
                  >
                  > --- fronkfam <fronkfam@...> wrote:
                  >
                  > > Hi,
                  > >
                  > > My name is Teri. I live in Utah. My six year old
                  > > son Brayden, might
                  > > have AS. We were told at 15 months that he probably
                  > > had Autism. We
                  > > were given a diagnosis of Autism at age 3 when he
                  > > started attending a
                  > > preschool for kids with Autism. He started having
                  > > seizures at 3.5
                  > > years old. At the time seizures started, we had
                  > > some genetic testing
                  > > done. The doctor didn't test for Angelman because
                  > > Brayden didn't fit
                  > > the symptom of having a small head. Now our
                  > > neurologist is requesting
                  > > he be tested.
                  > >
                  > > I don't know much about Angelman. Our lives have
                  > > revolved around
                  > > Autism for so long, but Brayden was always different
                  > > from other kids
                  > > with Autism.
                  > >
                  > > Any information you could share would really be
                  > > appreciated.
                  > >
                  > > Thanks,
                  > > Teri
                  > >
                  > >
                  > >
                  > >
                  > >
                  >
                  > Nicole Schacht
                  >
                  > __________________________________________________
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                  > Tired of spam? Yahoo! Mail has the best spam protection around
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                  >
                • fronkfam
                  Now that you mention it, Brayden was also a late walker. He was about 2-2.5 years old when he started to walk. We were just told that he had extrememly low
                  Message 8 of 14 , May 7, 2006
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                    Now that you mention it, Brayden was also a late walker. He was about
                    2-2.5 years old when he started to walk. We were just told that he
                    had extrememly low muscle tone.

                    We are still waiting for the results of his test for Angelman.

                    Teri


                    --- In familiesofangelmansyndrome@yahoogroups.com, "Robbie Montgomery"
                    <rmontgomery@...> wrote:
                    >
                    > We thought Sawyer's difficulties were due to a virus called CMV. I had
                    > accepted that too until she started having "drop seizures" I didn't know
                    > what they were at the time. I thought she was over tired or it was just
                    > due to her poor balance.She would be standing up and then eyes shut
                    > briefly and she would catch herself before falling or just fall.
                    They were
                    > only once in a while a year ago but then they started happening like 10
                    > times a day. We went to the neurologist and the first test too came back
                    > negative but then they did another specific test FISCH test I think
                    and it
                    > was positive. We met with geneticists a couple of weeks ago and they
                    took
                    > my husbands blood and mine to see if this was caused between the two
                    of us
                    > or if it is something in my family genes.
                    >
                    > She has two characteristics which don't totally fit AS. She has retinal
                    > scarring and she has protowords which start with /b and p/. She has
                    names
                    > for things and different vocalizations. However, everything else
                    fits AS.
                    > She is walking and starting to jump and run. I feel she has come so far
                    > due to therapy which started when she was 3 months old.
                    >
                    > Robbie
                    >
                    > Robbie Montgomery, M.S, SLP-CCC
                    > Speech-Language Pathologist
                    >
                  • fronkfam
                    Jean, We also feel so priveledged to be raising such a special child. He has taught us all (me, my husband, our 2 other children) more than I can name. He
                    Message 9 of 14 , May 7, 2006
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                      Jean,

                      We also feel so priveledged to be raising such a special child. He
                      has taught us all (me, my husband, our 2 other children) more than I
                      can name. He seems to have a great effect on everyone he meets.

                      Teri


                      --- In familiesofangelmansyndrome@yahoogroups.com, momanddad Warnock
                      <momanddad28@...> wrote:
                      >
                      > HI, my name is Jean and our son is Robert, deletion positive at the
                      age of 5. Previously they told us he had cerebral palsy, but we could
                      never quite understand that diagnosis because he didn't really fit any
                      of the particular kinds of cp. It was to say the least, very
                      frustrating, then came the suspicion of AS. We had him tested and well
                      it was almost like a blessing in disguise, because when we received
                      the info on AS, there was our beautiful son. It made such perfect
                      sense, he does not have the small head, either, but did start having
                      seizures at the age of 16 months. He is very much under control and is
                      really, at the age of 17, not bothered by them very much. He is still
                      taking anti seizure meds, because the last time we tried to wean him
                      off, he had a bad seizure. To us it was not worth it, they seem to
                      get less and less after they go thru puberty!!! Yes, they go thru
                      puberty just like our other children. Robert is fourth in the line of
                      5 wonderful children!
                      > I sympathize with you mourning over one diagnosis and then having
                      to start all over again with another, but as I said it, for us, was
                      much better than not knowing.
                      > So many of your children on this board are so much younger than
                      our son, and pretty much all seem to be walking, our son was never
                      able too. Although it was sad for along time, now it is just a way of
                      life for us, he is able to crawl and mostly scoot around on his
                      bottom. He is very happy and a joy to have, we thank God for him and
                      accept the challenge of raising one of Gods special people.
                      > Take care and if you have any questions, feel free to ask!
                      > Jean
                      >
                      > nicole Wygonik <neschacht@...> wrote:
                      > I feel the same way that you do about not fitting. My
                      > son was diagnosed with Autism at 2. We are going
                      > through our second set of tests for Angelman right
                      > now. The first test for deletion came back negative.
                      > My son will be 4 in a month. My son has a small head
                      > but knock on wood....no seizures. Besides the
                      > seizures what other signs does your son have? I have
                      > accepted the autism diagnosis because I have lived
                      > with the belief he had it since he was 16 months. I
                      > have already grieved over the autism diagnosis and am
                      > scared to have to try and fit in somewhere else.
                      >
                      > Nicole
                      >
                      > --- fronkfam <fronkfam@...> wrote:
                      >
                      > > Hi,
                      > >
                      > > My name is Teri. I live in Utah. My six year old
                      > > son Brayden, might
                      > > have AS. We were told at 15 months that he probably
                      > > had Autism. We
                      > > were given a diagnosis of Autism at age 3 when he
                      > > started attending a
                      > > preschool for kids with Autism. He started having
                      > > seizures at 3.5
                      > > years old. At the time seizures started, we had
                      > > some genetic testing
                      > > done. The doctor didn't test for Angelman because
                      > > Brayden didn't fit
                      > > the symptom of having a small head. Now our
                      > > neurologist is requesting
                      > > he be tested.
                      > >
                      > > I don't know much about Angelman. Our lives have
                      > > revolved around
                      > > Autism for so long, but Brayden was always different
                      > > from other kids
                      > > with Autism.
                      > >
                      > > Any information you could share would really be
                      > > appreciated.
                      > >
                      > > Thanks,
                      > > Teri
                      > >
                      > >
                      > >
                      > >
                      > >
                      >
                      > Nicole Schacht
                      >
                      > __________________________________________________
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                      >
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                      >
                    • Maria
                      Teri, I live in Highland! We actually don t have a diagnosis for my daughter, Lydia (7). We have done a couple of the blood tests, but both have come back
                      Message 10 of 14 , May 11, 2006
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                        Teri,

                        I live in Highland! We actually don't have a diagnosis for my
                        daughter, Lydia (7). We have done a couple of the blood tests, but
                        both have come back negative. I still think she fits under the AS
                        diagnosis. I would love to talk to you! Please feel free to call
                        me, or e-mail me personally with your number and I would be happy to
                        return your call. There are a dozen or so families that stay a
                        little connected here. I would love to get you connected as well!

                        Maria
                        830-8507

                        --- In familiesofangelmansyndrome@yahoogroups.com, "fronkfam"
                        <fronkfam@...> wrote:
                        >
                        > Hi,
                        >
                        > My name is Teri. I live in Utah. My six year old son Brayden,
                        might
                        > have AS. We were told at 15 months that he probably had Autism.
                        We
                        > were given a diagnosis of Autism at age 3 when he started
                        attending a
                        > preschool for kids with Autism. He started having seizures at 3.5
                        > years old. At the time seizures started, we had some genetic
                        testing
                        > done. The doctor didn't test for Angelman because Brayden didn't
                        fit
                        > the symptom of having a small head. Now our neurologist is
                        requesting
                        > he be tested.
                        >
                        > I don't know much about Angelman. Our lives have revolved around
                        > Autism for so long, but Brayden was always different from other
                        kids
                        > with Autism.
                        >
                        > Any information you could share would really be appreciated.
                        >
                        > Thanks,
                        > Teri
                        >
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