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Re: [Families of Angelman Syndrome] prenatal history

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  • Karla Dostal
    No- I did not have an ultrasound with either one of my children. This is the first I have heard of anything like that. I wonder if there is a link somehow.
    Message 1 of 13 , Jan 9, 2008
    • 0 Attachment
      No- I did not have an ultrasound with either one of my children. This is the first I have heard of anything like that. I wonder if there is a link somehow. What type of AS does your child have?

      Karla & Kean 10 AS Del+
      Iowa



      ----- Original Message ----
      From: javajunkie001 <javajunkie001@...>
      To: familiesofangelmansyndrome@yahoogroups.com
      Sent: Tuesday, January 8, 2008 10:29:59 PM
      Subject: [Families of Angelman Syndrome] prenatal history

      Did any of you moms have prenatal ultrasounds? If so how did your
      angels look at 10-15wks gestation? My son had a "water-filled- tumor"
      called a cystic hygroma that was visible on the back of his neck.
      This is the same place they look for chromosome abnormalities,
      referred to as the nucal thickness. My son had a very large nucal
      thickness and hygroma. It had cleared up by the time he was born.

      --- In familiesofangelmans yndrome@yahoogro ups.com, Karla Dostal
      <mom_angelboy@ ...> wrote:
      >
      > My son Kean is very laid back and has always been a great player /
      self entertainer. He has certain types of toys he likes to play with.
      He enjoys velcro fruit and veggies because he loves to pull things
      apart and put them back together. He also likes container playing, he
      has always liked putting things in and taking them out. He also loves
      ball ramps. His newest toy is a magnectic toy it's for ages 3+ the
      pieces are really big so he cannot swallow them. They are similar to
      the Magnetix toys that have been all the craze, I found Kean's set in
      the same aisle. Kean also is into Disney movies on DVD, he really
      likes the computer animated ones like Finding Nemo, Toys Story 1&2,
      Meet The Robinsons, Madagaskar and Ice Age 1&2 just to name a few.
      >
      > Karla & Kean 10 AS Del+
      > Iowa
      >
      >
      >
      > ----- Original Message ----
      > From: Chantel Borquez <c.borquez@. ..>
      > To: familiesofangelmans yndrome@yahoogro ups.com
      > Sent: Sunday, January 6, 2008 5:22:15 PM
      > Subject: Re: [Families of Angelman Syndrome] My Son Dylan
      >
      > HI my name is Chantel
      > I live in Tucson, My son is six years old he got
      > diagnosed with Angelman when he was 12 months his name
      > is michael we call him Jr. He is a very happy boy he
      > scoots on his bottum, he is non verbal he does shakes
      > his head yes or no. sometimes I fell bad when i'm
      > doing to many things at home like cleaning and so on.
      > Because he will sit there or play with his one
      > favorite toy I have bought him so many different toys
      > so he doesn't look so bored but he just is not
      > interested of any toys. How does your son keep him
      > self busy do you have any suggestions.
      > --- Karla Dostal <mom_angelboy@ yahoo.com> wrote:
      >
      > > Donna,
      > >
      > > I thought I would just share Kean's background with
      > > you. I thought that would help to know us a little
      > > better.
      > >
      > > We actually knew something wasn't quite right at 2
      > > weeks of age. He had Aspiration Pneumonia and was
      > > just fussier and sicker then he should have been. He
      > > was in the NICU for 2 weeks on oxygen and came home
      > > with oxygen and had it for a month. Kean started PT
      > > at 4 mos of age. He could not lay flat on his back.
      > > At 7 mos he could barely lift his head of the floor.
      > > He had what we thought could possibly be seizures
      > > starting at about 6 mos of age. The Dr's and PT
      > > ruled it his body not knowing where he is in space.
      > > Sounded logical. At 17 months he had his first
      > > positive seizure. He then had an EEG and it showed
      > > his brain being in Status. That means he is having
      > > seizures in his brain every moment of his life if we
      > > see them or not. He had been diagnosed with
      > > Cerebral Palsy at 1 yr of age. My husband & I
      > > diagnosed him with AS at 20 mos, that was after a
      > > family in a close town told their story in the paper
      > > about their son with AS. Kean fit everything about
      > > their son. We took that information and told the
      > > Dr we wanted him tested for AS and within 5 weeks we
      > > were right. AS-Deletion Positive. He truly fits
      > > most if not all the characteristics of AS.
      > >
      > > Physical Abilities:
      > > Kean was able to sit up if placed at 8 months. He
      > > would however fall over if he looked up.
      > > I believe he started rolling over both directions at
      > > 10 months. He held his own bottle for the first
      > > time at 14 months. He didn't commando crawl until he
      > > was 17 months after his first set of visible
      > > seizures. He didn't learn how to sit up on his own
      > > until he was 2 1/2 years old. That was after a week
      > > of seizures. He started scooting on his bottom when
      > > he was 3 yrs old. He started in a Gait Trainer when
      > > he was 3 yrs old. He tried pulling up to the couch
      > > when he was 4 yrs old. He could 4 point crawl when
      > > he was 5 yrs old. Kean moved into a Kaye Walker
      > > when he was 5 1/2 yrs old. He still uses it now at
      > > 10 yrs old. He will also walk with someone holding
      > > onto one hand. He cannot get off the floor to a
      > > standing postition by himself.
      > >
      > > Kean is an 10 yr old dark blonde hair, gray eyed
      > > boy. He is very happy. He is able to walk with the
      > > aide of a walker and with lots of hands on
      > > assistance. His main mode of transportation is to
      > > scoot across the floor on his bottom. He will on
      > > occasion 4 point crawl. He uses a pacifier and
      > > drinks from a sippy cup. He has only been using the
      > > sippy cup for a year.
      > >
      > > He has many different kinds of seizures but the
      > > quantity is small. He is vocal but non-verbal. He
      > > understands the concept of the Big Mac. He is
      > > starting to understand PECS (picture exchange
      > > communication system). He really enjoys looking at
      > > pictures of people. He does mouth toys, but less
      > > frequently then in the past. He does not have a
      > > fascination with water. He does enjoy putting his
      > > hand under running water as long as it is warm. The
      > > bath tub isn't anymore thrilling for him then it is
      > > for my typical son. Kean is extremely laid back. I
      > > am able to leave him alone in our living room and go
      > > down in our basement and when I come back up he is
      > > still in the same spot. We do not have any gates
      > > up. He loves to play with stacking toys and
      > > buckets. He loves to put toys in a bucket ( i.e.
      > > shoes,) and then take them out again. He loves
      > > watching DVD's on the TV. He does not use hand
      > > gestures or pointing. He does scoot to the person
      > > he wants and fusses
      > > until they pick him up. He does enjoy playing with
      > > other children and especially his big brother Jace.
      > > He is able to sit in a classroom with his typical
      > > peers and be appropriate at school. He does have
      > > his aide sit beside him. He very seldom pulls hair
      > > or bites, if it happens he doesn't do it in a mean
      > > way. He does not wrestle but you will be crawled
      > > over if you lay on the floor. He does not flap his
      > > arms. He does walk with one arm flexed at the
      > > elbows when he is walking with someone holding his
      > > hand. When he is in his wheelchair or in the car
      > > seat his arms are flexed at the elbows as well. He
      > > will put them down sometimes but more often then not
      > > they are flexed.
      > > He does have tremors daily.
      > >
      > > Medications he is on are:
      > > Depakote & Topamax(for seizures)
      > > Singulair (For Asthma),
      > > Diazepam (as needed for seizures),
      > > Miralax (For Constipation)
      > > He has been hospitalized 20 times mainly for
      > > dehydration and seizures.
      > > He weighs 53lbs. He is 4 ft tall. He is the average
      > > size of a 7 yr old.
      > >
      > > Kean used to take Phenobarbital. It made him
      > > extremely grouchy.
      > > He is taking Depakote 250mg AM and 250mg PM. He is
      > > also taking Topamax 50mg Am and 100mg PM.
      > >
      > > Kean also has an Enclosed bed. His is called a
      > > Sleep Secure Bed it was made locally. It is a Twin
      > > Size Captains Bed with padded poles and a mesh
      > > enclosure that zips him in. We also have a top cover
      > > whenever he is able to start climbing. His sleeps
      > > habits have improved since he got the bed. He was
      > > almost 4 when we finally received it. He usually
      > > goes to bed around 10:00-10:30 and sleeps until
      > > about 6:00am.
      > >
      > > About school:
      > >
      > > Kean attended a full inclusion preschool for 2
      > > years. He had a one on one aide (me his mom) while
      > > he was there. I was hired by the school district to
      > > be his aide. When he graduated from preschool and
      > > went to Kindergarten he received a new aide. She
      > > has been with him for 6 yrs. He did 2 years of
      > > Kindergarten, 1 yr of 1st, 2nd, 3rd and he is now in
      > > the 4th grade. He attends our local public school.
      > > He is considered Partially Included: that means he
      > > spends time with his Regular Ed peers in their
      > > classroom and specials and he also spends time in
      > > his Special Needs classroom working on his goals.
      > > He has many friends and is doing great in this
      > > environment. He receives PT and Speech at school.
      > > The do not treat him any differently. They talk to
      > > him as if they are expecting an answer and don't
      > > seem to notice or care that they are not getting
      > > one.
      > >
      > > I still work as a special ed assistant this is my 8
      > > yr. I work at the same Elementary school that Kean
      > > attends.
      > > I have worked with many children who are a lot like
      > > Kean in their skill level. They have all been
      > > non-verbal and non-mobile or they need some
      > > assistance to be mobile. The child I work with has a
      > > Traumatic Brain Injury, he was shaken when he was 9
      > > months old. He is doing fantastic and is way above
      > > his typical peers in Kindergarten, I have been with
      > > him for 4 yrs.
      > >
      > > Sorry it's so long.
      > >
      > >
      > > Karla & Kean 10 AS Del+
      > > Iowa
      > >
      > >
      > >
      > > ----- Original Message ----
      > > From: Donna ODriscoll
      > > <xxdodriscollxx@ btinternet. com>
      > > To: familiesofangelmans yndrome@yahoogro ups.com
      > > Sent: Saturday, January 5, 2008 3:48:15 PM
      > > Subject: Re: [Families of Angelman Syndrome] My Son
      > > Dylan
      > >
      > > Hi Karla
      > >
      > > He isn't crawling or scooting or anything yet. He
      > > still has very low muscle tone in his chest which is
      > > improving all the time. It's strange because he is
      > > the strongest child I've ever met. Maybe this is
      > > part of Angelmans??? If he lies on his tummy he
      > > can't support himself on his arms, he can lift his
      > > head and shoulders though.
      > > He has physiotherapy but it hasn't helped that his
      > > reflux has been so bad. Everytime they tried to do
      > > anything with him he was sick everywhere. The
      > > tablets I mentioned are working now so fingers
      > > crossed he'll start to progress this year.
      > > As for drinking, he doesn't drink very much at all.
      > > He will drink from a sippy cup that's not valved.
      > > But he bites the top as he's drinking and a cup will
      > > last him all day and he probably won't finish it. He
      > > goes to a special needs nursery (which is an amazing
      > > place and he loves it) and this is what he uses to
      > > drink from there. I use fruit shoot bottles. I don't
      > > know if you have them in America, you probably do,
      > > by Robinsons. They're a bit like unvalved sports cap
      > > bottles and he has juice & flavoured water in these.
      > > I find he drinks more from these approx 200-250ml a
      > > day.
      > > He has a wicked sense of humour and you can see the
      > > mischief in his eyes. He can't crawl but he can
      > > wriggle to wherever he wants to go if he wants
      > > something badly enough.
      > > I took him out of his cot about 4 months ago and
      > > into a cot bed with a Tomy bed rail. He gets on with
      > > this very well. He's having a specially made foam
      > > padding
      > === message truncated ===
      >
      > ____________ _________ _________ _________ _________ _________ _
      > Looking for last minute shopping deals?
      > Find them fast with Yahoo! Search. http://tools. search.yahoo.
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      >
      >
      >
      >
      >
      >
      ____________ _________ _________ _________ _________ _________ _
      ____________ __
      > Looking for last minute shopping deals?
      > Find them fast with Yahoo! Search.
      http://tools. search.yahoo. com/newsearch/ category. php?category= shopping
      >
      > [Non-text portions of this message have been removed]
      >





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    • Donna ODriscoll
      Hi I had an ultrasound at 13 and 22 weeks into my pregnancy with Dylan. There wasn t any abnormalities shown on there Donna (Dylan s mummy - 20mths Del+) Karla
      Message 2 of 13 , Jan 9, 2008
      • 0 Attachment
        Hi
        I had an ultrasound at 13 and 22 weeks into my pregnancy with Dylan. There wasn't any abnormalities shown on there

        Donna (Dylan's mummy - 20mths Del+)

        Karla Dostal <mom_angelboy@...> wrote:
        No- I did not have an ultrasound with either one of my children. This is the first I have heard of anything like that. I wonder if there is a link somehow. What type of AS does your child have?

        Karla & Kean 10 AS Del+
        Iowa

        ----- Original Message ----
        From: javajunkie001 <javajunkie001@...>
        To: familiesofangelmansyndrome@yahoogroups.com
        Sent: Tuesday, January 8, 2008 10:29:59 PM
        Subject: [Families of Angelman Syndrome] prenatal history

        Did any of you moms have prenatal ultrasounds? If so how did your
        angels look at 10-15wks gestation? My son had a "water-filled- tumor"
        called a cystic hygroma that was visible on the back of his neck.
        This is the same place they look for chromosome abnormalities,
        referred to as the nucal thickness. My son had a very large nucal
        thickness and hygroma. It had cleared up by the time he was born.

        --- In familiesofangelmans yndrome@yahoogro ups.com, Karla Dostal
        <mom_angelboy@ ...> wrote:
        >
        > My son Kean is very laid back and has always been a great player /
        self entertainer. He has certain types of toys he likes to play with.
        He enjoys velcro fruit and veggies because he loves to pull things
        apart and put them back together. He also likes container playing, he
        has always liked putting things in and taking them out. He also loves
        ball ramps. His newest toy is a magnectic toy it's for ages 3+ the
        pieces are really big so he cannot swallow them. They are similar to
        the Magnetix toys that have been all the craze, I found Kean's set in
        the same aisle. Kean also is into Disney movies on DVD, he really
        likes the computer animated ones like Finding Nemo, Toys Story 1&2,
        Meet The Robinsons, Madagaskar and Ice Age 1&2 just to name a few.
        >
        > Karla & Kean 10 AS Del+
        > Iowa
        >
        >
        >
        > ----- Original Message ----
        > From: Chantel Borquez <c.borquez@. ..>
        > To: familiesofangelmans yndrome@yahoogro ups.com
        > Sent: Sunday, January 6, 2008 5:22:15 PM
        > Subject: Re: [Families of Angelman Syndrome] My Son Dylan
        >
        > HI my name is Chantel
        > I live in Tucson, My son is six years old he got
        > diagnosed with Angelman when he was 12 months his name
        > is michael we call him Jr. He is a very happy boy he
        > scoots on his bottum, he is non verbal he does shakes
        > his head yes or no. sometimes I fell bad when i'm
        > doing to many things at home like cleaning and so on.
        > Because he will sit there or play with his one
        > favorite toy I have bought him so many different toys
        > so he doesn't look so bored but he just is not
        > interested of any toys. How does your son keep him
        > self busy do you have any suggestions.
        > --- Karla Dostal <mom_angelboy@ yahoo.com> wrote:
        >
        > > Donna,
        > >
        > > I thought I would just share Kean's background with
        > > you. I thought that would help to know us a little
        > > better.
        > >
        > > We actually knew something wasn't quite right at 2
        > > weeks of age. He had Aspiration Pneumonia and was
        > > just fussier and sicker then he should have been. He
        > > was in the NICU for 2 weeks on oxygen and came home
        > > with oxygen and had it for a month. Kean started PT
        > > at 4 mos of age. He could not lay flat on his back.
        > > At 7 mos he could barely lift his head of the floor.
        > > He had what we thought could possibly be seizures
        > > starting at about 6 mos of age. The Dr's and PT
        > > ruled it his body not knowing where he is in space.
        > > Sounded logical. At 17 months he had his first
        > > positive seizure. He then had an EEG and it showed
        > > his brain being in Status. That means he is having
        > > seizures in his brain every moment of his life if we
        > > see them or not. He had been diagnosed with
        > > Cerebral Palsy at 1 yr of age. My husband & I
        > > diagnosed him with AS at 20 mos, that was after a
        > > family in a close town told their story in the paper
        > > about their son with AS. Kean fit everything about
        > > their son. We took that information and told the
        > > Dr we wanted him tested for AS and within 5 weeks we
        > > were right. AS-Deletion Positive. He truly fits
        > > most if not all the characteristics of AS.
        > >
        > > Physical Abilities:
        > > Kean was able to sit up if placed at 8 months. He
        > > would however fall over if he looked up.
        > > I believe he started rolling over both directions at
        > > 10 months. He held his own bottle for the first
        > > time at 14 months. He didn't commando crawl until he
        > > was 17 months after his first set of visible
        > > seizures. He didn't learn how to sit up on his own
        > > until he was 2 1/2 years old. That was after a week
        > > of seizures. He started scooting on his bottom when
        > > he was 3 yrs old. He started in a Gait Trainer when
        > > he was 3 yrs old. He tried pulling up to the couch
        > > when he was 4 yrs old. He could 4 point crawl when
        > > he was 5 yrs old. Kean moved into a Kaye Walker
        > > when he was 5 1/2 yrs old. He still uses it now at
        > > 10 yrs old. He will also walk with someone holding
        > > onto one hand. He cannot get off the floor to a
        > > standing postition by himself.
        > >
        > > Kean is an 10 yr old dark blonde hair, gray eyed
        > > boy. He is very happy. He is able to walk with the
        > > aide of a walker and with lots of hands on
        > > assistance. His main mode of transportation is to
        > > scoot across the floor on his bottom. He will on
        > > occasion 4 point crawl. He uses a pacifier and
        > > drinks from a sippy cup. He has only been using the
        > > sippy cup for a year.
        > >
        > > He has many different kinds of seizures but the
        > > quantity is small. He is vocal but non-verbal. He
        > > understands the concept of the Big Mac. He is
        > > starting to understand PECS (picture exchange
        > > communication system). He really enjoys looking at
        > > pictures of people. He does mouth toys, but less
        > > frequently then in the past. He does not have a
        > > fascination with water. He does enjoy putting his
        > > hand under running water as long as it is warm. The
        > > bath tub isn't anymore thrilling for him then it is
        > > for my typical son. Kean is extremely laid back. I
        > > am able to leave him alone in our living room and go
        > > down in our basement and when I come back up he is
        > > still in the same spot. We do not have any gates
        > > up. He loves to play with stacking toys and
        > > buckets. He loves to put toys in a bucket ( i.e.
        > > shoes,) and then take them out again. He loves
        > > watching DVD's on the TV. He does not use hand
        > > gestures or pointing. He does scoot to the person
        > > he wants and fusses
        > > until they pick him up. He does enjoy playing with
        > > other children and especially his big brother Jace.
        > > He is able to sit in a classroom with his typical
        > > peers and be appropriate at school. He does have
        > > his aide sit beside him. He very seldom pulls hair
        > > or bites, if it happens he doesn't do it in a mean
        > > way. He does not wrestle but you will be crawled
        > > over if you lay on the floor. He does not flap his
        > > arms. He does walk with one arm flexed at the
        > > elbows when he is walking with someone holding his
        > > hand. When he is in his wheelchair or in the car
        > > seat his arms are flexed at the elbows as well. He
        > > will put them down sometimes but more often then not
        > > they are flexed.
        > > He does have tremors daily.
        > >
        > > Medications he is on are:
        > > Depakote & Topamax(for seizures)
        > > Singulair (For Asthma),
        > > Diazepam (as needed for seizures),
        > > Miralax (For Constipation)
        > > He has been hospitalized 20 times mainly for
        > > dehydration and seizures.
        > > He weighs 53lbs. He is 4 ft tall. He is the average
        > > size of a 7 yr old.
        > >
        > > Kean used to take Phenobarbital. It made him
        > > extremely grouchy.
        > > He is taking Depakote 250mg AM and 250mg PM. He is
        > > also taking Topamax 50mg Am and 100mg PM.
        > >
        > > Kean also has an Enclosed bed. His is called a
        > > Sleep Secure Bed it was made locally. It is a Twin
        > > Size Captains Bed with padded poles and a mesh
        > > enclosure that zips him in. We also have a top cover
        > > whenever he is able to start climbing. His sleeps
        > > habits have improved since he got the bed. He was
        > > almost 4 when we finally received it. He usually
        > > goes to bed around 10:00-10:30 and sleeps until
        > > about 6:00am.
        > >
        > > About school:
        > >
        > > Kean attended a full inclusion preschool for 2
        > > years. He had a one on one aide (me his mom) while
        > > he was there. I was hired by the school district to
        > > be his aide. When he graduated from preschool and
        > > went to Kindergarten he received a new aide. She
        > > has been with him for 6 yrs. He did 2 years of
        > > Kindergarten, 1 yr of 1st, 2nd, 3rd and he is now in
        > > the 4th grade. He attends our local public school.
        > > He is considered Partially Included: that means he
        > > spends time with his Regular Ed peers in their
        > > classroom and specials and he also spends time in
        > > his Special Needs classroom working on his goals.
        > > He has many friends and is doing great in this
        > > environment. He receives PT and Speech at school.
        > > The do not treat him any differently. They talk to
        > > him as if they are expecting an answer and don't
        > > seem to notice or care that they are not getting
        > > one.
        > >
        > > I still work as a special ed assistant this is my 8
        > > yr. I work at the same Elementary school that Kean
        > > attends.
        > > I have worked with many children who are a lot like
        > > Kean in their skill level. They have all been
        > > non-verbal and non-mobile or they need some
        > > assistance to be mobile. The child I work with has a
        > > Traumatic Brain Injury, he was shaken when he was 9
        > > months old. He is doing fantastic and is way above
        > > his typical peers in Kindergarten, I have been with
        > > him for 4 yrs.
        > >
        > > Sorry it's so long.
        > >
        > >
        > > Karla & Kean 10 AS Del+
        > > Iowa
        > >
        > >
        > >
        > > ----- Original Message ----
        > > From: Donna ODriscoll
        > > <xxdodriscollxx@ btinternet. com>
        > > To: familiesofangelmans yndrome@yahoogro ups.com
        > > Sent: Saturday, January 5, 2008 3:48:15 PM
        > > Subject: Re: [Families of Angelman Syndrome] My Son
        > > Dylan
        > >
        > > Hi Karla
        > >
        > > He isn't crawling or scooting or anything yet. He
        > > still has very low muscle tone in his chest which is
        > > improving all the time. It's strange because he is
        > > the strongest child I've ever met. Maybe this is
        > > part of Angelmans??? If he lies on his tummy he
        > > can't support himself on his arms, he can lift his
        > > head and shoulders though.
        > > He has physiotherapy but it hasn't helped that his
        > > reflux has been so bad. Everytime they tried to do
        > > anything with him he was sick everywhere. The
        > > tablets I mentioned are working now so fingers
        > > crossed he'll start to progress this year.
        > > As for drinking, he doesn't drink very much at all.
        > > He will drink from a sippy cup that's not valved.
        > > But he bites the top as he's drinking and a cup will
        > > last him all day and he probably won't finish it. He
        > > goes to a special needs nursery (which is an amazing
        > > place and he loves it) and this is what he uses to
        > > drink from there. I use fruit shoot bottles. I don't
        > > know if you have them in America, you probably do,
        > > by Robinsons. They're a bit like unvalved sports cap
        > > bottles and he has juice & flavoured water in these.
        > > I find he drinks more from these approx 200-250ml a
        > > day.
        > > He has a wicked sense of humour and you can see the
        > > mischief in his eyes. He can't crawl but he can
        > > wriggle to wherever he wants to go if he wants
        > > something badly enough.
        > > I took him out of his cot about 4 months ago and
        > > into a cot bed with a Tomy bed rail. He gets on with
        > > this very well. He's having a specially made foam
        > > padding
        > === message truncated ===
        >
        > ____________ _________ _________ _________ _________ _________ _
        > Looking for last minute shopping deals?
        > Find them fast with Yahoo! Search. http://tools. search.yahoo.
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      • javajunkie001
        My son has been tested for AS, and so far the tests have come back negative, but he meets all the criteria for AS. I am still trying to gather info, and try to
        Message 3 of 13 , Jan 9, 2008
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          My son has been tested for AS, and so far the tests have come back
          negative, but he meets all the criteria for AS. I am still trying to
          gather info, and try to find a good genetisist who might just do a
          clinical diagnosis. I have been told by numerous docs that the cystic
          hygroma is a physical manifestation of a chromosome defect, but my
          son's tests always come back normal.

          --- In familiesofangelmansyndrome@yahoogroups.com, Karla Dostal
          <mom_angelboy@...> wrote:
          >
          > No- I did not have an ultrasound with either one of my children.
          This is the first I have heard of anything like that. I wonder if
          there is a link somehow. What type of AS does your child have?
          >
          > Karla & Kean 10 AS Del+
          > Iowa
          >
          >
          >
          > ----- Original Message ----
          > From: javajunkie001 <javajunkie001@...>
          > To: familiesofangelmansyndrome@yahoogroups.com
          > Sent: Tuesday, January 8, 2008 10:29:59 PM
          > Subject: [Families of Angelman Syndrome] prenatal history
          >
          > Did any of you moms have prenatal ultrasounds? If so how did your
          > angels look at 10-15wks gestation? My son had a "water-filled-
          tumor"
          > called a cystic hygroma that was visible on the back of his neck.
          > This is the same place they look for chromosome abnormalities,
          > referred to as the nucal thickness. My son had a very large nucal
          > thickness and hygroma. It had cleared up by the time he was born.
          >
          > --- In familiesofangelmans yndrome@yahoogro ups.com, Karla Dostal
          > <mom_angelboy@ ...> wrote:
          > >
          > > My son Kean is very laid back and has always been a great
          player /
          > self entertainer. He has certain types of toys he likes to play
          with.
          > He enjoys velcro fruit and veggies because he loves to pull things
          > apart and put them back together. He also likes container playing,
          he
          > has always liked putting things in and taking them out. He also
          loves
          > ball ramps. His newest toy is a magnectic toy it's for ages 3+ the
          > pieces are really big so he cannot swallow them. They are similar
          to
          > the Magnetix toys that have been all the craze, I found Kean's set
          in
          > the same aisle. Kean also is into Disney movies on DVD, he really
          > likes the computer animated ones like Finding Nemo, Toys Story 1&2,
          > Meet The Robinsons, Madagaskar and Ice Age 1&2 just to name a few.
          > >
          > > Karla & Kean 10 AS Del+
          > > Iowa
          > >
          > >
          > >
          > > ----- Original Message ----
          > > From: Chantel Borquez <c.borquez@ ..>
          > > To: familiesofangelmans yndrome@yahoogro ups.com
          > > Sent: Sunday, January 6, 2008 5:22:15 PM
          > > Subject: Re: [Families of Angelman Syndrome] My Son Dylan
          > >
          > > HI my name is Chantel
          > > I live in Tucson, My son is six years old he got
          > > diagnosed with Angelman when he was 12 months his name
          > > is michael we call him Jr. He is a very happy boy he
          > > scoots on his bottum, he is non verbal he does shakes
          > > his head yes or no. sometimes I fell bad when i'm
          > > doing to many things at home like cleaning and so on.
          > > Because he will sit there or play with his one
          > > favorite toy I have bought him so many different toys
          > > so he doesn't look so bored but he just is not
          > > interested of any toys. How does your son keep him
          > > self busy do you have any suggestions.
          > > --- Karla Dostal <mom_angelboy@ yahoo.com> wrote:
          > >
          > > > Donna,
          > > >
          > > > I thought I would just share Kean's background with
          > > > you. I thought that would help to know us a little
          > > > better.
          > > >
          > > > We actually knew something wasn't quite right at 2
          > > > weeks of age. He had Aspiration Pneumonia and was
          > > > just fussier and sicker then he should have been. He
          > > > was in the NICU for 2 weeks on oxygen and came home
          > > > with oxygen and had it for a month. Kean started PT
          > > > at 4 mos of age. He could not lay flat on his back.
          > > > At 7 mos he could barely lift his head of the floor.
          > > > He had what we thought could possibly be seizures
          > > > starting at about 6 mos of age. The Dr's and PT
          > > > ruled it his body not knowing where he is in space.
          > > > Sounded logical. At 17 months he had his first
          > > > positive seizure. He then had an EEG and it showed
          > > > his brain being in Status. That means he is having
          > > > seizures in his brain every moment of his life if we
          > > > see them or not. He had been diagnosed with
          > > > Cerebral Palsy at 1 yr of age. My husband & I
          > > > diagnosed him with AS at 20 mos, that was after a
          > > > family in a close town told their story in the paper
          > > > about their son with AS. Kean fit everything about
          > > > their son. We took that information and told the
          > > > Dr we wanted him tested for AS and within 5 weeks we
          > > > were right. AS-Deletion Positive. He truly fits
          > > > most if not all the characteristics of AS.
          > > >
          > > > Physical Abilities:
          > > > Kean was able to sit up if placed at 8 months. He
          > > > would however fall over if he looked up.
          > > > I believe he started rolling over both directions at
          > > > 10 months. He held his own bottle for the first
          > > > time at 14 months. He didn't commando crawl until he
          > > > was 17 months after his first set of visible
          > > > seizures. He didn't learn how to sit up on his own
          > > > until he was 2 1/2 years old. That was after a week
          > > > of seizures. He started scooting on his bottom when
          > > > he was 3 yrs old. He started in a Gait Trainer when
          > > > he was 3 yrs old. He tried pulling up to the couch
          > > > when he was 4 yrs old. He could 4 point crawl when
          > > > he was 5 yrs old. Kean moved into a Kaye Walker
          > > > when he was 5 1/2 yrs old. He still uses it now at
          > > > 10 yrs old. He will also walk with someone holding
          > > > onto one hand. He cannot get off the floor to a
          > > > standing postition by himself.
          > > >
          > > > Kean is an 10 yr old dark blonde hair, gray eyed
          > > > boy. He is very happy. He is able to walk with the
          > > > aide of a walker and with lots of hands on
          > > > assistance. His main mode of transportation is to
          > > > scoot across the floor on his bottom. He will on
          > > > occasion 4 point crawl. He uses a pacifier and
          > > > drinks from a sippy cup. He has only been using the
          > > > sippy cup for a year.
          > > >
          > > > He has many different kinds of seizures but the
          > > > quantity is small. He is vocal but non-verbal. He
          > > > understands the concept of the Big Mac. He is
          > > > starting to understand PECS (picture exchange
          > > > communication system). He really enjoys looking at
          > > > pictures of people. He does mouth toys, but less
          > > > frequently then in the past. He does not have a
          > > > fascination with water. He does enjoy putting his
          > > > hand under running water as long as it is warm. The
          > > > bath tub isn't anymore thrilling for him then it is
          > > > for my typical son. Kean is extremely laid back. I
          > > > am able to leave him alone in our living room and go
          > > > down in our basement and when I come back up he is
          > > > still in the same spot. We do not have any gates
          > > > up. He loves to play with stacking toys and
          > > > buckets. He loves to put toys in a bucket ( i.e.
          > > > shoes,) and then take them out again. He loves
          > > > watching DVD's on the TV. He does not use hand
          > > > gestures or pointing. He does scoot to the person
          > > > he wants and fusses
          > > > until they pick him up. He does enjoy playing with
          > > > other children and especially his big brother Jace.
          > > > He is able to sit in a classroom with his typical
          > > > peers and be appropriate at school. He does have
          > > > his aide sit beside him. He very seldom pulls hair
          > > > or bites, if it happens he doesn't do it in a mean
          > > > way. He does not wrestle but you will be crawled
          > > > over if you lay on the floor. He does not flap his
          > > > arms. He does walk with one arm flexed at the
          > > > elbows when he is walking with someone holding his
          > > > hand. When he is in his wheelchair or in the car
          > > > seat his arms are flexed at the elbows as well. He
          > > > will put them down sometimes but more often then not
          > > > they are flexed.
          > > > He does have tremors daily.
          > > >
          > > > Medications he is on are:
          > > > Depakote & Topamax(for seizures)
          > > > Singulair (For Asthma),
          > > > Diazepam (as needed for seizures),
          > > > Miralax (For Constipation)
          > > > He has been hospitalized 20 times mainly for
          > > > dehydration and seizures.
          > > > He weighs 53lbs. He is 4 ft tall. He is the average
          > > > size of a 7 yr old.
          > > >
          > > > Kean used to take Phenobarbital. It made him
          > > > extremely grouchy.
          > > > He is taking Depakote 250mg AM and 250mg PM. He is
          > > > also taking Topamax 50mg Am and 100mg PM.
          > > >
          > > > Kean also has an Enclosed bed. His is called a
          > > > Sleep Secure Bed it was made locally. It is a Twin
          > > > Size Captains Bed with padded poles and a mesh
          > > > enclosure that zips him in. We also have a top cover
          > > > whenever he is able to start climbing. His sleeps
          > > > habits have improved since he got the bed. He was
          > > > almost 4 when we finally received it. He usually
          > > > goes to bed around 10:00-10:30 and sleeps until
          > > > about 6:00am.
          > > >
          > > > About school:
          > > >
          > > > Kean attended a full inclusion preschool for 2
          > > > years. He had a one on one aide (me his mom) while
          > > > he was there. I was hired by the school district to
          > > > be his aide. When he graduated from preschool and
          > > > went to Kindergarten he received a new aide. She
          > > > has been with him for 6 yrs. He did 2 years of
          > > > Kindergarten, 1 yr of 1st, 2nd, 3rd and he is now in
          > > > the 4th grade. He attends our local public school.
          > > > He is considered Partially Included: that means he
          > > > spends time with his Regular Ed peers in their
          > > > classroom and specials and he also spends time in
          > > > his Special Needs classroom working on his goals.
          > > > He has many friends and is doing great in this
          > > > environment. He receives PT and Speech at school.
          > > > The do not treat him any differently. They talk to
          > > > him as if they are expecting an answer and don't
          > > > seem to notice or care that they are not getting
          > > > one.
          > > >
          > > > I still work as a special ed assistant this is my 8
          > > > yr. I work at the same Elementary school that Kean
          > > > attends.
          > > > I have worked with many children who are a lot like
          > > > Kean in their skill level. They have all been
          > > > non-verbal and non-mobile or they need some
          > > > assistance to be mobile. The child I work with has a
          > > > Traumatic Brain Injury, he was shaken when he was 9
          > > > months old. He is doing fantastic and is way above
          > > > his typical peers in Kindergarten, I have been with
          > > > him for 4 yrs.
          > > >
          > > > Sorry it's so long.
          > > >
          > > >
          > > > Karla & Kean 10 AS Del+
          > > > Iowa
          > > >
          > > >
          > > >
          > > > ----- Original Message ----
          > > > From: Donna ODriscoll
          > > > <xxdodriscollxx@ btinternet. com>
          > > > To: familiesofangelmans yndrome@yahoogro ups.com
          > > > Sent: Saturday, January 5, 2008 3:48:15 PM
          > > > Subject: Re: [Families of Angelman Syndrome] My Son
          > > > Dylan
          > > >
          > > > Hi Karla
          > > >
          > > > He isn't crawling or scooting or anything yet. He
          > > > still has very low muscle tone in his chest which is
          > > > improving all the time. It's strange because he is
          > > > the strongest child I've ever met. Maybe this is
          > > > part of Angelmans??? If he lies on his tummy he
          > > > can't support himself on his arms, he can lift his
          > > > head and shoulders though.
          > > > He has physiotherapy but it hasn't helped that his
          > > > reflux has been so bad. Everytime they tried to do
          > > > anything with him he was sick everywhere. The
          > > > tablets I mentioned are working now so fingers
          > > > crossed he'll start to progress this year.
          > > > As for drinking, he doesn't drink very much at all.
          > > > He will drink from a sippy cup that's not valved.
          > > > But he bites the top as he's drinking and a cup will
          > > > last him all day and he probably won't finish it. He
          > > > goes to a special needs nursery (which is an amazing
          > > > place and he loves it) and this is what he uses to
          > > > drink from there. I use fruit shoot bottles. I don't
          > > > know if you have them in America, you probably do,
          > > > by Robinsons. They're a bit like unvalved sports cap
          > > > bottles and he has juice & flavoured water in these.
          > > > I find he drinks more from these approx 200-250ml a
          > > > day.
          > > > He has a wicked sense of humour and you can see the
          > > > mischief in his eyes. He can't crawl but he can
          > > > wriggle to wherever he wants to go if he wants
          > > > something badly enough.
          > > > I took him out of his cot about 4 months ago and
          > > > into a cot bed with a Tomy bed rail. He gets on with
          > > > this very well. He's having a specially made foam
          > > > padding
          > > === message truncated ===
          > >
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          > >
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          >
          >
          >
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        • Tina Carpenter
          I only had one ultrasound while pregnant & it wasn t until 28 weeks. Everything was normal. Tina Please visit my son s webpage
          Message 4 of 13 , Jan 9, 2008
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            I only had one ultrasound while pregnant & it wasn't until 28 weeks. Everything was normal.

            Tina




            Please visit my son's webpage www.angelfire.com/journal2/chases_world/
            Please visit me on Ebay my ID is specialneedsmommy. See what I'm selling!








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