Well I have made the decision to pull Abby out of the public school and homeschool her myself. At least until I can find a more suitable place for her. I was hesitant about her being thrust into full days so soon and her being unable to handle the situation and after 2 weeks she was still not eating in the mornings, couldn't even get her to drink milk - then she would not eat at lunch (except maybe a little bit of fruit). So almost 16 hours without eating hardly anything and she was always starving and not so happy when she would get off the bus :( I knew my girl was not handling it and even though the school didn't like it very much I had to to what I thought was best for her. So for now I am going to do online courses with ABCMouse.com and look into some private schools. I was told she was in a classroom with K-1 grade and even though it was the resource room it was a pretty big class. She was used to being in a class where there was 1 teacher to every 2 kids, so she had A LOT of one on one exposure. She was not getting that this year. Then there were some things she was saying - and none of this occurred before school started - she would point her finger and say "bad bad bad boy". I knew this wasn't something she had heard at home. And it upset me that these were all disabled students - why were they saying things like that to them? And was Abby being spoken to like that? I mean come on, they are children first off and they are special needs children on top of that. I don't know where or who it came from, but I don't want that for her. No one is going to make my child feel like she is less than wonderful!!!
And so we go onto the next phase :) I have a new job as well - as the Assistant Director of Public Relations for the Williams Syndrome Family of Hope!!! I am super-thrilled about it, and it means that I get to be involved in helping all these wonderful WS individuals and their families that I have come to see as part of my own family! This foundation is so close to my heart and I am so proud to be just a tiny part of it :D So go check out our website and the Hope Store where you can get lots of goodies with our logo - we will soon be adding more stuff like coffee mugs, golf towels, hoodies and ball caps!
http://wsfamilyofhope.org/
And also, Abby and I are going to be moving - yes again LOL! I got an offer that I just can't really refuse and it will be a lot less money per month going towards rent which will help us tremendously :) And my dad owns the property - it is where my Grandma and Grandpa lived - we will have a front and back porch outside, a garage, lots of room outside to run, and it's right next door to my brother and sister in law :) And I will get to see my dad more often as well! So I think it's going to be a great thing - so within the next month or so we will probably be moving yet again. At least this time we don't have as much stuff LOL. And a lot of it is still boxed up :D
Tuesday, September 4, 2012
Monday, August 6, 2012
WS Resources/Links
Here are some links you can check out to find out more about Williams Syndrome:
http://en.wikipedia.org/wiki/Williams_syndrome
http://learn.genetics.utah.edu/content/disorders/whataregd/williams/
http://www.ninds.nih.gov/disorders/williams/williams.htm
http://abcnews.go.com/Health/friendly-extreme-meet-kids-adults-williams-syndrome/story?id=13795416
http://www.nytimes.com/2007/07/08/magazine/08sociability-t.html?pagewanted=all
http://www.youtube.com/watch?v=ckD96KIdGdA
(This is a video of Darius Rucker and a group of Williams Syndrome Individuals at the ACM Awards last year :)
http://www.youtube.com/watch?v=-VL5kMSgLIw
(Part 1 of documentary on 20/20)
http://www.youtube.com/watch?v=UQUlJ9g0KK4
(Part 2 of documentary on 20/20)
http://www.youtube.com/watch?v=AHT4-dB4MiI
The following is from the website
http://wsfamilyofhope.org/
What is Williams syndrome?
Williams syndrome (WS) is a genetic disorder caused by a deletion of a small segment of the long arm of chromosome 7. This region includes the elastin gene. It occurs in approximately 1 in 10,000 births. Williams syndrome is characterized by mild to sever medical problems, mild to moderate developmental delays, a distinctive facial appearance and a unique personality that combines over-friendliness and high levels of empathy with anxiety. Williams syndrome can affect every system in the body. Medical problems may include cardiovascular disease caused by narrowed arteries, elevated blood pressure, kidney problems, gastrointestinal issues, limited joint mobility, chronic ear infections, thyroid issues and optical issues. Attention Deficit Disorder is extremely common in Williams syndrome and often requires medication. All individuals with Williams syndrome have learning disabilities. Williams syndrome is also associated with a characteristic cognitive profile of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction. The average IQ is in the mildly mentally developmentally delayed range, however some individuals have a more severe impairment and there are few who have normal intelligence.
How is Williams syndrome Diagnosed?
Williams syndrome can be detected by a blood test, fluorescent in situ hybridization (FISH) or targeted mutation analysis.
What Are The Most Common Characteristics of Williams syndrome?
Many anomalies have been reported in people with Williams syndrome, but , expression of the syndrome is highly variable from person to person. Also, some anomalies are readily apparent and may be recognized at birth while others are subtle and may go unnoticed until much later. Still others are developmental and do not exist until later on, such as learning disabilities. This explains why a diagnosis of Williams syndrome is sometimes made during the first few days of life, and other times, not until much later. Also, there is great variability in the severity with which characteristics may appear and in the degree to which they cause difficulty.
Cardiac abnormalities: Supravalvular aortic stenosis (SVAS), Pulmonary stenosis, Long QT
Hypertension
Kidney abnormalities
Hernias
Rectal Prolapse
Chronic Ear Infections
Hoarse Voice
Hypotonia
Hypercalcemia
Feeding difficulties in infants
Gastric Reflux
Gastroparesis
Celiac Disease
Strabismus
Urinary tract abnormalities
Poor growth
Early Puberty
Hyperacusis (Hearing sensitivity)
Individuals with Williams syndrome have a characteristic facial appearance (broad brow, bitemporal narrowness, periorbital fullness, a lacy iris pattern, strabismus, short nose, full nasal tip, malar hypoplasis, long philtrum, full lips, wide mouth, malocclusion, small jaw and prominent earlobes) that are observed at all ages. Young children have epicanthal folds, full cheeks and small, widely spaced teeth, while adults typically have a long face and neck, accentuated by sloping shoulders resulting in a more gaunt appearance.
Delay in achieving developmental milestones
Delay in speech and language development
Mild to severe anxiety
Are There Any Treatments for Williams syndrome?
There is no cure for Williams syndrome, but there are ways to treat the various problems associated with the syndrome. There is no standard course of treatment for this very complex and uncommon disorder. Individuals with Williams syndrome require evaluation and subsequent monitoring by multiple specialists, including regular cardiovascular monitoring. Physical, Occupational and Speech/Language therapy is also recommended. Treatments are based on each individual symptom.
http://en.wikipedia.org/wiki/Williams_syndrome
http://learn.genetics.utah.edu/content/disorders/whataregd/williams/
http://www.ninds.nih.gov/disorders/williams/williams.htm
http://abcnews.go.com/Health/friendly-extreme-meet-kids-adults-williams-syndrome/story?id=13795416
http://www.nytimes.com/2007/07/08/magazine/08sociability-t.html?pagewanted=all
http://www.youtube.com/watch?v=ckD96KIdGdA
(This is a video of Darius Rucker and a group of Williams Syndrome Individuals at the ACM Awards last year :)
http://www.youtube.com/watch?v=-VL5kMSgLIw
(Part 1 of documentary on 20/20)
http://www.youtube.com/watch?v=UQUlJ9g0KK4
(Part 2 of documentary on 20/20)
http://www.youtube.com/watch?v=AHT4-dB4MiI
The following is from the website
http://wsfamilyofhope.org/
What is Williams syndrome?
Williams syndrome (WS) is a genetic disorder caused by a deletion of a small segment of the long arm of chromosome 7. This region includes the elastin gene. It occurs in approximately 1 in 10,000 births. Williams syndrome is characterized by mild to sever medical problems, mild to moderate developmental delays, a distinctive facial appearance and a unique personality that combines over-friendliness and high levels of empathy with anxiety. Williams syndrome can affect every system in the body. Medical problems may include cardiovascular disease caused by narrowed arteries, elevated blood pressure, kidney problems, gastrointestinal issues, limited joint mobility, chronic ear infections, thyroid issues and optical issues. Attention Deficit Disorder is extremely common in Williams syndrome and often requires medication. All individuals with Williams syndrome have learning disabilities. Williams syndrome is also associated with a characteristic cognitive profile of mental strengths and weaknesses composed of strengths in verbal short-term memory and language, combined with severe weakness in visuospatial construction. The average IQ is in the mildly mentally developmentally delayed range, however some individuals have a more severe impairment and there are few who have normal intelligence.
How is Williams syndrome Diagnosed?
Williams syndrome can be detected by a blood test, fluorescent in situ hybridization (FISH) or targeted mutation analysis.
What Are The Most Common Characteristics of Williams syndrome?
Many anomalies have been reported in people with Williams syndrome, but , expression of the syndrome is highly variable from person to person. Also, some anomalies are readily apparent and may be recognized at birth while others are subtle and may go unnoticed until much later. Still others are developmental and do not exist until later on, such as learning disabilities. This explains why a diagnosis of Williams syndrome is sometimes made during the first few days of life, and other times, not until much later. Also, there is great variability in the severity with which characteristics may appear and in the degree to which they cause difficulty.
Cardiac abnormalities: Supravalvular aortic stenosis (SVAS), Pulmonary stenosis, Long QT
Hypertension
Kidney abnormalities
Hernias
Rectal Prolapse
Chronic Ear Infections
Hoarse Voice
Hypotonia
Hypercalcemia
Feeding difficulties in infants
Gastric Reflux
Gastroparesis
Celiac Disease
Strabismus
Urinary tract abnormalities
Poor growth
Early Puberty
Hyperacusis (Hearing sensitivity)
Individuals with Williams syndrome have a characteristic facial appearance (broad brow, bitemporal narrowness, periorbital fullness, a lacy iris pattern, strabismus, short nose, full nasal tip, malar hypoplasis, long philtrum, full lips, wide mouth, malocclusion, small jaw and prominent earlobes) that are observed at all ages. Young children have epicanthal folds, full cheeks and small, widely spaced teeth, while adults typically have a long face and neck, accentuated by sloping shoulders resulting in a more gaunt appearance.
Delay in achieving developmental milestones
Delay in speech and language development
Mild to severe anxiety
Are There Any Treatments for Williams syndrome?
There is no cure for Williams syndrome, but there are ways to treat the various problems associated with the syndrome. There is no standard course of treatment for this very complex and uncommon disorder. Individuals with Williams syndrome require evaluation and subsequent monitoring by multiple specialists, including regular cardiovascular monitoring. Physical, Occupational and Speech/Language therapy is also recommended. Treatments are based on each individual symptom.
Up to date ...
Well now that you have read Abby's story up to now, I will try to keep the blog updated with what is going on :) I am also going to post a page with links to resources on Williams Syndrome!
Abby is now 5, she will be 6 in November. She starts Kindergarden on 8/14 and will be in the resource room. She has spent the last 2 years in Special Education Early Intervention classes and had wonderful teachers who helped her thrive. At her latest evaluation, I was told Abby was in the "moderately mentally disabled" category. She has a serious development delay and is about at the same stage a 3 year old would be. When I went for the evaluation there were a bunch of teachers and therapists in the room and they told me "you seem very comfortable with all this". Well here is what I KNOW to be true - Abby is disabled. Abby has Williams Syndrome. Abby had a heart condition that may come back. Abby is developmentally and physically delayed. Abby learns something new all the time. That last sentence is what means more to me than ANY of the others - that she learns something. She is learning, she is trying, and she is smart - that is what I care about. No evaluations from people who have only known her for 1 hour make a bit of difference to me. I know she can do more than they said she could. I see her flourish and bloom every day of her life and watch how much joy she brings to others. It's impossible to not love that little girl! So for me that IS all that matters. Yes there are infinite possibilities - such as she may never have children of her own, she may never get married, she may never graduate high school or attend college. She may never hold a full-time job or be able to live independently. So what? God gave her to me for a reason, because he knew I would love her for WHO she is not WHAT she has. And if they came up with a cure for Williams Syndrome tomorrow, I wouldn't give it to her. Because if they did she wouldn't be my same Abby anymore. Her personality, her love, her kindness and compassion, the joy she brings to others lives is all because she has Williams Syndrome. She HAS it, but it does not DEFINE her.
When she hears someone crying, she instantly runs to them to make sure they are okay. She does not interact well with other children mostly because she is so forward and they are backoffish with her. She gravitates towards adults and elderly people. She adjusts to situations easier than most kids, she does have a lot of sensory issues such as loud noises will cause her to get anxious and cover her ears and cry. She gets distracted very easily, and was just diagnosed with ADHD and is now on medication to help calm her down a little. She loves to watch the Wiggles, Dora, Veggie Tales and SpongeBob. She loves to hear people sing and loves to sing songs herself, has a great voice and can remember words to songs more than most kids her age. She loves to dance, jump and run. She does all the stuff that a kid does, just sometimes it comes a little later than usual. It's all in there, it just takes us more time and effort to pull it out of her :D
Abby is now 5, she will be 6 in November. She starts Kindergarden on 8/14 and will be in the resource room. She has spent the last 2 years in Special Education Early Intervention classes and had wonderful teachers who helped her thrive. At her latest evaluation, I was told Abby was in the "moderately mentally disabled" category. She has a serious development delay and is about at the same stage a 3 year old would be. When I went for the evaluation there were a bunch of teachers and therapists in the room and they told me "you seem very comfortable with all this". Well here is what I KNOW to be true - Abby is disabled. Abby has Williams Syndrome. Abby had a heart condition that may come back. Abby is developmentally and physically delayed. Abby learns something new all the time. That last sentence is what means more to me than ANY of the others - that she learns something. She is learning, she is trying, and she is smart - that is what I care about. No evaluations from people who have only known her for 1 hour make a bit of difference to me. I know she can do more than they said she could. I see her flourish and bloom every day of her life and watch how much joy she brings to others. It's impossible to not love that little girl! So for me that IS all that matters. Yes there are infinite possibilities - such as she may never have children of her own, she may never get married, she may never graduate high school or attend college. She may never hold a full-time job or be able to live independently. So what? God gave her to me for a reason, because he knew I would love her for WHO she is not WHAT she has. And if they came up with a cure for Williams Syndrome tomorrow, I wouldn't give it to her. Because if they did she wouldn't be my same Abby anymore. Her personality, her love, her kindness and compassion, the joy she brings to others lives is all because she has Williams Syndrome. She HAS it, but it does not DEFINE her.
When she hears someone crying, she instantly runs to them to make sure they are okay. She does not interact well with other children mostly because she is so forward and they are backoffish with her. She gravitates towards adults and elderly people. She adjusts to situations easier than most kids, she does have a lot of sensory issues such as loud noises will cause her to get anxious and cover her ears and cry. She gets distracted very easily, and was just diagnosed with ADHD and is now on medication to help calm her down a little. She loves to watch the Wiggles, Dora, Veggie Tales and SpongeBob. She loves to hear people sing and loves to sing songs herself, has a great voice and can remember words to songs more than most kids her age. She loves to dance, jump and run. She does all the stuff that a kid does, just sometimes it comes a little later than usual. It's all in there, it just takes us more time and effort to pull it out of her :D
Meeting other WS families
It wasn't until I started talking about Abby's diagnosis on Facebook
that I started to meet other people - and I was introduced to Kelley Buckner Bedore,
who is one of the best people I have ever met and she started the WSFOH
to help WS families and individuals. From there my world exploded with
WS families, I started getting friend requests from other parents with
WS children and even some WS adults! It was great and it did help a
lot, although they were all pretty far away and we still didn't know
anyone in our area.
Then around 2010 we were invited to our first WS event - a picnic held in Indy, so my mom and Chris and I took Abby down and got to meet several families and other WS children. It was awesome! But it wasn't until 2012 when I was asked to join the WSFOH that we became part of a SUPER family :) The foundation that Kelley started had taken off like crazy due to their tireless efforts and love, and I was just happy to be a part of it. Then in June 2012 my mom and I took Abby to Nashville TN so that Abby could take part in a country music song and video for the Family of Hope. So all of these mothers and a few fathers that I had only spoken to online we got to finally meet in person and it was the most wonderful time I have ever had! Williams Syndrome children are adorable, sweet, loving, gifted, caring, compassionate and on and on. The health problems that they have were compensated 100 times over by God with their wonderful personalities and natures. It was amazing to meet Kelley and her son Dawson and all the other moms and dads! And now we know there are several people close to us in Indiana! Tricia and Kendal, Becki and Jacob, Sondra and Codie :D I love them all so much! Abby had a fabulous time, even though she didn't sing in the studio, she had fun! It was just like you see on tv, a real recording studio - OmniSound Studios on Music Row! Brandon Giddens sang the song with the WS families in the background.
I went in to sing with Abby and the other parents and kids, and Abby goes right up under the microphone and says "Okay, let's sing Hope is An Open Heart!" That was the name of the song, and we had been practicing for a few weeks. Then in between each chorus Abby kept saying "WOW" - it was so funny! So we finished the song recording and all the families went out for lunch and we had a great time together. Then we went to the Percy Priest Dam to shoot the video. The kids were all tired, and a lot of them cried through the video, but it went pretty well. We were out in a beautiful field and they put out a wicker couch and Brandon Giddens sat and sang with his guitar with all the kids on a blanket in front of him and pictures of the kids who couldn't make it to Nashville all around. It was so fun and cool to see them having that once-in-a-lifetime experience! It was a week of those experiences and we met such wonderful families :D
Then around 2010 we were invited to our first WS event - a picnic held in Indy, so my mom and Chris and I took Abby down and got to meet several families and other WS children. It was awesome! But it wasn't until 2012 when I was asked to join the WSFOH that we became part of a SUPER family :) The foundation that Kelley started had taken off like crazy due to their tireless efforts and love, and I was just happy to be a part of it. Then in June 2012 my mom and I took Abby to Nashville TN so that Abby could take part in a country music song and video for the Family of Hope. So all of these mothers and a few fathers that I had only spoken to online we got to finally meet in person and it was the most wonderful time I have ever had! Williams Syndrome children are adorable, sweet, loving, gifted, caring, compassionate and on and on. The health problems that they have were compensated 100 times over by God with their wonderful personalities and natures. It was amazing to meet Kelley and her son Dawson and all the other moms and dads! And now we know there are several people close to us in Indiana! Tricia and Kendal, Becki and Jacob, Sondra and Codie :D I love them all so much! Abby had a fabulous time, even though she didn't sing in the studio, she had fun! It was just like you see on tv, a real recording studio - OmniSound Studios on Music Row! Brandon Giddens sang the song with the WS families in the background.
I went in to sing with Abby and the other parents and kids, and Abby goes right up under the microphone and says "Okay, let's sing Hope is An Open Heart!" That was the name of the song, and we had been practicing for a few weeks. Then in between each chorus Abby kept saying "WOW" - it was so funny! So we finished the song recording and all the families went out for lunch and we had a great time together. Then we went to the Percy Priest Dam to shoot the video. The kids were all tired, and a lot of them cried through the video, but it went pretty well. We were out in a beautiful field and they put out a wicker couch and Brandon Giddens sat and sang with his guitar with all the kids on a blanket in front of him and pictures of the kids who couldn't make it to Nashville all around. It was so fun and cool to see them having that once-in-a-lifetime experience! It was a week of those experiences and we met such wonderful families :D
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| Outside the Recording Studio :) |
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| Abby loves guitar players!!! |
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| Setting for the Video |
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| Some handsome young men :) |
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| Codie and Brandon |
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| Abby's first trip to the Rainforest Cafe! |
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| Sitting with Brandon the singer. |
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| Abby and Brandon Giddens |
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| Mommy and Abby at the park July 2012 |
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| Abby and her new LeapPad from the WSFOH |
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| Part of the Wall of Williams, the WSFOH travelling picture wall! |
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| Kelley and Abby by the pool in Nashville :) |
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| I just love this picture, even if she's not smiling :) |
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| Abby in her bee costume :) Won a photo contest with this picture! |
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| Christmas 2011 |
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| Halloween at the Fort Wayne Childrens Zoo 2011 |
Diagnosis of Williams Syndrome
In the summer of 2007 Abby's pediatrician told us that we should get her genetically tested. She said that Abby's congenital heart disease could mean she had a genetic syndrome. So we were referred to Rileys in Indy and we set up an appointment.
We arrived and checked in for her appointment. We were standing in the hallway waiting to be shown into the exam room and one of the geneticists walked past us and looked closely at Abby. We got into the room and one of the residents came in to talk to us. He said the doctor who had just seen Abby in the hallway was 99 percent sure that Abby had Williams Syndrome. I had done some searching on the Internet, and the pediatrician had given us 2 likely syndromes - Williams and Turner. I was relieved when we found out it was Williams because Turner syndrome was the worse of the two options. The resident set up the paperwork and we took Abby downstairs to the clinic and they took her blood to do the FISH test for Williams.
2 weeks later I was sitting at TGI Friday's having lunch with Abby when I got the call. The FISH test had come back positive - Abby had Williams Syndrome. While we weren't sure what all that meant, at least we had a diagnosis and we would be able to find out more about what to expect for her future. And it explained everything - the colic for 6 months, the constipation problems, the congenital heart disease. So we scheduled an appointment to go back down to the genetics clinic and have a conference about what to expect.
Although the diagnosis was hard to hear and understand at first, I was just glad to know that there WAS a reason for everything Abby had been going through and that at least we would be able to move forward from there. It was a little harder because we knew no other WS families or WS individuals, so the support system was just family at that point.
We arrived and checked in for her appointment. We were standing in the hallway waiting to be shown into the exam room and one of the geneticists walked past us and looked closely at Abby. We got into the room and one of the residents came in to talk to us. He said the doctor who had just seen Abby in the hallway was 99 percent sure that Abby had Williams Syndrome. I had done some searching on the Internet, and the pediatrician had given us 2 likely syndromes - Williams and Turner. I was relieved when we found out it was Williams because Turner syndrome was the worse of the two options. The resident set up the paperwork and we took Abby downstairs to the clinic and they took her blood to do the FISH test for Williams.
2 weeks later I was sitting at TGI Friday's having lunch with Abby when I got the call. The FISH test had come back positive - Abby had Williams Syndrome. While we weren't sure what all that meant, at least we had a diagnosis and we would be able to find out more about what to expect for her future. And it explained everything - the colic for 6 months, the constipation problems, the congenital heart disease. So we scheduled an appointment to go back down to the genetics clinic and have a conference about what to expect.
Although the diagnosis was hard to hear and understand at first, I was just glad to know that there WAS a reason for everything Abby had been going through and that at least we would be able to move forward from there. It was a little harder because we knew no other WS families or WS individuals, so the support system was just family at that point.
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| First Birthday! |
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| First Birthday cake! |
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| 2nd Birthday Party |
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| First day of Pre-School 2010 |
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