After we sent Emmie's MRI to The Walsh Lab at Boston Children's Hospital and they reviewed everything, they thought that from looking at her scan her Polymicrogyria was caused by the GPR56 gene mutation.
DR Walsh told us that they only knew of 25 cases of the GPR56 mutation in the world and that most of those cased are in the middle east. WHAT?!!? Strange.
They also shared with us that the other kids they knew of with the GPR56 had some different traights. Eyes going opposite ways and more severe disabilities that Emmie doesn't seem to have.
They let us know that if we wanted to confirm what the cause of the Polymicrogyria is, we would have to do genetic testing (me, Adam and Emmie).
Its been over a year now since our trip to Boston and we finally decided to do the testing. The meetings and testing are a little pricey since the lovely US insurance companies don't seem to cover anything you really need medically.
After going through the terrible process of giving blood (a kid with sensory issues giving blood is very traumatic) we shipped it off to Boston.
A few weeks later I got a call from the Walsh Lab. They informed us that Emmie did in fact have the GPR56 mutation which would have put her in the group with those 25 kids.
BUT........Emmie has a slight variation in the GPR56 mutation that none of the other kids have. SHE'S THE ONLY ONE! How is that even possible?
Adam and I both carry some crazy rare gene that when comes together give us a 1 in 4 chance of having a child with this genetic mutation.
How is this even possible?! We're not odds people! How did WE end up with such a rare thing?!
At first I felt LUCKY that Emmie was doing so well. Brenda at the Walsh Lab is such an angel and knows how to make me see the upside to things.
Then I felt GUILTY...it was Adam and I that gave this mutation to Emmie.
Then I felt SAD that we still don't know what Emmie's future will look like and just plain old feeling sorry for myself again.
Going through all this really is a roller coaster of emotion! Emotion seems to change from one week to the next. LOVE, PRIDE, HOPE, JOY, SADNESS, FRUSTRATION, LOVE.
The one feeling that I stick with is HOW LUCKY WE ARE to have such a sweet little girl who is beating the odds!!! She doesn't have the seizures that the other kids have, she IS WALKING, she IS TALKING, she IS GOING ON THE POTTY!!!!!!! Its really amazing.
Maybe she's doing so well because her strain of GPR56 is different than the others. Maybe she's doing so well because of her persistent stubborn will to try!
We try to stay positive. Adam and I both have our bad weeks BUT WE ALWAYS DRAG OURSELVES BACK TO POSITIVE!
With these crazy odds that we've been dealt I really DO BELIEVE that Emmie is meant to do something or bring something amazing to this world.
I dont know what it is about her but everyone she meets loves her. WE ARE SO LUCKY!
Friday, August 3, 2012
Four Year Old Update on Emmie
My sweet little girl is growing up....and becoming more stubborn and bossy than ever. I LOVE IT! It shows great character and that she actually has very strong feelings one way or another about something.
SHE'S STARTING TO REMEMBER THINGS!
We weren't sure how her memory was going to be as she seemed to forget things often and rarely remembered or referred to certain things she's done before (I call her Dori from Nemo...:). She's just started remembering random things!
1) That Nanny bought her that toy!
2) Asking for her best friend Elyse to come over and play!
3) The real Rapunzel came to her birthday party and she hasn't stopped telling us that "PUNZEL CAME TO MY BIRTHDAY PARTY!".
Everyday she seems to be surprising us and making us proud.
EMMIE'S STARTING PRE-K IN A FEW WEEKS!
She is talking a lot more now but still only really with us and not at school. It may just be her being shy or overwhelmed at all the kids in the class....we don't know. She recites her ABC's and counts to 20!!!! The teachers don't believe us and we're having a bit of a hard time with school because of the fact that she doesn't talk as much in school.
Her current preschool wanted to hold her back a year and have her redo the 3 year old class. They felt that because she has to wear a pull up at nap time and that she needs prompting to get her to the next task that it would be the best thing. We don't feel that way...Adam and I are the only ones who knows what she's like at home and I want them to give her the benefit of the doubt and let her try.
She seems to excel more when she's challenged and has something new to try. WHO REDOES A 3 YEAR OLD CLASS!? We have been fighting for a few months now and have actually convinced them to give her a try in the 4's. I would rather have her repeat a year that will help her move towards kindergarden if we have to....not just coloring.
SHE'S POTTY TRAINING!! Finally wearing underwear during the day!!! She is still wearing a pull up at nap and bed time BUT WHO CARES. Next we're working on her doing it all on her own! She'll tell us when she has to go but doesn't seem to remember the next steps.....walk to the bathroom, pull her pants down, hop on the potty etc. We find ourselves repeating and repeating and repeating ourselves all day long. Hoping that eventually she'll remember on her own.
Sometimes she'll surprise me and say "mommy I'm going to use daddy's potty!"...then she'll go and do it all on her own. Saying "NO mommy...Emmie needs privacy". I know when she's using daddy's potty and needs privacy...she means business! BIG business if you know what I mean.
We seem to be reminding and helping her about 80-90 percent of the time....I know she'll get it eventually!
SHE'S MAKING FRIENDS!
Its amazing how different her relationships have grown in the past year. The kids went from playing on their own to playing with their friends. She is always talking about her friends at school. Bryson, Ian, Obi, Elyse, Aiden, Samara, Tia. Its so cute. We'll be at the grocery store and she'll say "AIDEN HAS THAT ONE"...she wants the same snacks her friends have. Its cute!
Her and her best friend play together on weekends and they have the best time. They haven't quite mastered hide and go seek but they try! If I cover my eyes and I cant see you that means you cant see me right? :)
HER BALANCE AND COORDINATION IS GETTING BETTER
She has some dance moves like you've never seen! Her perfect day would consist of dancing with mommy and daddy in viking hats to "ive got a dream" from the Tangled soundtrack.
She has been trying the stairs more although still asks for help and takes her time.
For some funny reason she's becoming a really good driver! She gets in the barbie powered car and steers it all over the backyard.
Some parents may thing these are just normal everyday things but to Adam and I these are all HUGE accomplishments and all deserve (and get) a HUGE applause! (followed by Emmie bowing of course)
SHE'S STARTING TO REMEMBER THINGS!
We weren't sure how her memory was going to be as she seemed to forget things often and rarely remembered or referred to certain things she's done before (I call her Dori from Nemo...:). She's just started remembering random things!
1) That Nanny bought her that toy!
2) Asking for her best friend Elyse to come over and play!
3) The real Rapunzel came to her birthday party and she hasn't stopped telling us that "PUNZEL CAME TO MY BIRTHDAY PARTY!".
Everyday she seems to be surprising us and making us proud.
EMMIE'S STARTING PRE-K IN A FEW WEEKS!
She is talking a lot more now but still only really with us and not at school. It may just be her being shy or overwhelmed at all the kids in the class....we don't know. She recites her ABC's and counts to 20!!!! The teachers don't believe us and we're having a bit of a hard time with school because of the fact that she doesn't talk as much in school.
Her current preschool wanted to hold her back a year and have her redo the 3 year old class. They felt that because she has to wear a pull up at nap time and that she needs prompting to get her to the next task that it would be the best thing. We don't feel that way...Adam and I are the only ones who knows what she's like at home and I want them to give her the benefit of the doubt and let her try.
She seems to excel more when she's challenged and has something new to try. WHO REDOES A 3 YEAR OLD CLASS!? We have been fighting for a few months now and have actually convinced them to give her a try in the 4's. I would rather have her repeat a year that will help her move towards kindergarden if we have to....not just coloring.
SHE'S POTTY TRAINING!! Finally wearing underwear during the day!!! She is still wearing a pull up at nap and bed time BUT WHO CARES. Next we're working on her doing it all on her own! She'll tell us when she has to go but doesn't seem to remember the next steps.....walk to the bathroom, pull her pants down, hop on the potty etc. We find ourselves repeating and repeating and repeating ourselves all day long. Hoping that eventually she'll remember on her own.
Sometimes she'll surprise me and say "mommy I'm going to use daddy's potty!"...then she'll go and do it all on her own. Saying "NO mommy...Emmie needs privacy". I know when she's using daddy's potty and needs privacy...she means business! BIG business if you know what I mean.
We seem to be reminding and helping her about 80-90 percent of the time....I know she'll get it eventually!
SHE'S MAKING FRIENDS!
Its amazing how different her relationships have grown in the past year. The kids went from playing on their own to playing with their friends. She is always talking about her friends at school. Bryson, Ian, Obi, Elyse, Aiden, Samara, Tia. Its so cute. We'll be at the grocery store and she'll say "AIDEN HAS THAT ONE"...she wants the same snacks her friends have. Its cute!
Her and her best friend play together on weekends and they have the best time. They haven't quite mastered hide and go seek but they try! If I cover my eyes and I cant see you that means you cant see me right? :)
HER BALANCE AND COORDINATION IS GETTING BETTER
She has some dance moves like you've never seen! Her perfect day would consist of dancing with mommy and daddy in viking hats to "ive got a dream" from the Tangled soundtrack.
She has been trying the stairs more although still asks for help and takes her time.
For some funny reason she's becoming a really good driver! She gets in the barbie powered car and steers it all over the backyard.
Some parents may thing these are just normal everyday things but to Adam and I these are all HUGE accomplishments and all deserve (and get) a HUGE applause! (followed by Emmie bowing of course)
Therapy Services in LAUSD
Well...Emmie has been in the LAUSD therapy program for over a year now. It started off with a referral from the regional center when she was almost 3 to be evaluated for and IEP (Individual Education Plan) and from there Emmie had some testing to determine if she was a good fit for therapies. After going through testing and pleading our case she qualified. All the LAUSD reps and therapists we met were very nice and really tried to help us. Although a little unorganized when the school year changes and holidays are taken...overall a good experience. We've gotten more therapy for her than we thought we would and all has been covered by the state programs for kids with special needs.
Emmie has had 4 therapies every week:
1) Occupational (at the local elementary school)
2) Speech (at the local elementary school)
3) Physical (at the local elementary school)
4) Physical in a gym setting (Hughes Center in Woodland Hills has a therapy gym for kids)
At the end of the school year she was reevaluated and the IEP was updated. They want to add one more therapy to Emmie's schedule. They are saying that its because she is so responsive and try's so hard to do what they are asking...she wants to try and they are seeing great results from it. She's such a sweet soul and brings a smile to everyones face she meets.
Im so proud.
RESOURCES FOR CHILDREN WITH SPECIAL NEEDS IN THE LOS ANGELES AREA:
1) LAUSD http://home.lausd.net/
2) NORTH LOS ANGELES REGIONAL CENTER http://www.nlacrc.org/
3) CALIFORNIA EARLY START http://www.dds.ca.gov/EArlyStart/Home.cfm
Emmie has had 4 therapies every week:
1) Occupational (at the local elementary school)
2) Speech (at the local elementary school)
3) Physical (at the local elementary school)
4) Physical in a gym setting (Hughes Center in Woodland Hills has a therapy gym for kids)
At the end of the school year she was reevaluated and the IEP was updated. They want to add one more therapy to Emmie's schedule. They are saying that its because she is so responsive and try's so hard to do what they are asking...she wants to try and they are seeing great results from it. She's such a sweet soul and brings a smile to everyones face she meets.
Im so proud.
RESOURCES FOR CHILDREN WITH SPECIAL NEEDS IN THE LOS ANGELES AREA:
1) LAUSD http://home.lausd.net/
2) NORTH LOS ANGELES REGIONAL CENTER http://www.nlacrc.org/
3) CALIFORNIA EARLY START http://www.dds.ca.gov/EArlyStart/Home.cfm
Sunday, June 26, 2011
The Offer (for now) from LAUSD
Well......we had our evaluation with LAUSD last weekend. They knew we wanted E to continue services and not wait until Sept so they graciously rushed our IEP (Individual Education Plan) appointment to yesterday.
We sat there for over 2 hours while all the therapists read their reports (like many times before). They said how special Emmie is and how she does show great potential.
And then the offers.....(the lawyers in the advocacy group Adam went to through Regional Center told us NOT to sign the IEP offer right away as they usually try to give you the least possible to save money).
OPTION 1
Emmie qualifies for 2.5 hrs of services per day at the special needs preschool. Not individual therapy...she would be in a classroom of 12 other kids (at different special needs levels) and they would not be working with her one on one. The teachers in the class basically show the kids how to function in a school setting. She would have to keep her regular preschool full time and we would have to pick her up and drop her off at the other school for 2.5 hours everyday and then take her back to her regular preschool. WHAT? Are you nuts? Great if we had all the time in the world to not work and drive all over the city. OR we also have the option of E being transported by a city worker on a bus. I DON'T THINK SO. For a kid who likes stability and thrives on a schedule we don't feel like uprooting her everyday to be with a different driver, different teacher and different kids is a great option. Not going to work for us....
OPTION 2
We can have a therapist come into her regular school for 1 hour A MONTH and show the teachers what to do to help Emmie. This doesn't seem like a lot but if we're going to have to help E on our own this might be the best option. That way she can be comfortable with the same teacher and kids.
Adam and I are torn by what to do.
Physically she seems to consistently be a year behind (BUT SHES SUCH A SMART GIRL)...so do we keep her in a regular school but maybe a year back if the older kids pose a safety risk with being so much physically quicker and physical?
We're going to have to continue to work on therapy with Emmie at home and have found a great website that has some of the things she used in therapy:
www.sensoryedge.com
A little annoying that the prices are so high as they know people need these things but whatever.
Thank goodness I have a crafty husband!! He's already been talking about the things he wants to build for E to practice on (balance beam...stairs...etc).
I found a Polymicrogyria Group on Facebook and there are local LA parents that want to get together. I'm really excited to meet other parents and share experiences. Polymicrogyria Group Facebook
We sat there for over 2 hours while all the therapists read their reports (like many times before). They said how special Emmie is and how she does show great potential.
And then the offers.....(the lawyers in the advocacy group Adam went to through Regional Center told us NOT to sign the IEP offer right away as they usually try to give you the least possible to save money).
OPTION 1
Emmie qualifies for 2.5 hrs of services per day at the special needs preschool. Not individual therapy...she would be in a classroom of 12 other kids (at different special needs levels) and they would not be working with her one on one. The teachers in the class basically show the kids how to function in a school setting. She would have to keep her regular preschool full time and we would have to pick her up and drop her off at the other school for 2.5 hours everyday and then take her back to her regular preschool. WHAT? Are you nuts? Great if we had all the time in the world to not work and drive all over the city. OR we also have the option of E being transported by a city worker on a bus. I DON'T THINK SO. For a kid who likes stability and thrives on a schedule we don't feel like uprooting her everyday to be with a different driver, different teacher and different kids is a great option. Not going to work for us....
OPTION 2
We can have a therapist come into her regular school for 1 hour A MONTH and show the teachers what to do to help Emmie. This doesn't seem like a lot but if we're going to have to help E on our own this might be the best option. That way she can be comfortable with the same teacher and kids.
Adam and I are torn by what to do.
Physically she seems to consistently be a year behind (BUT SHES SUCH A SMART GIRL)...so do we keep her in a regular school but maybe a year back if the older kids pose a safety risk with being so much physically quicker and physical?
We're going to have to continue to work on therapy with Emmie at home and have found a great website that has some of the things she used in therapy:
www.sensoryedge.com
A little annoying that the prices are so high as they know people need these things but whatever.
Thank goodness I have a crafty husband!! He's already been talking about the things he wants to build for E to practice on (balance beam...stairs...etc).
I found a Polymicrogyria Group on Facebook and there are local LA parents that want to get together. I'm really excited to meet other parents and share experiences. Polymicrogyria Group Facebook
Sunday, June 19, 2011
Trying to get Emmie therapy after she's 3
Well....life has brought us back to sunny California. Emmie is thriving and we are so proud of her. We were able to get her 1 month of therapies through the Regional Center (5 separate appointments each week...which is interesting to juggle as a full time working family).
Occupational Therapy (OT): They help Emmie with her coordination and motor skills
Physical Therapy (PT): They help Emmie move the right way with ease and build muscle.
Speech Therapy: They work with Emmie on developing the right language skills. Helping her with her S and helping her to express herself by saying things like ' no biting', or 'no pushing'.
Floor Time: who knows....I think this was more for mommy and daddy to talk about the next steps and how to help Emmie deal with everything coming her way.
Once she turned three (a few weeks ago!! HAPPY BIRTHDAY!) she no longer qualifies for the same state services and gets turned over to the school system. What does that mean? Nobody seems to be able to give us a straight answer. We went for the first round of evaluations with the school district. Seems as though they don't care what the diagnosis is through Boston but that they need to determine for themselves. URG. I hope she can get the care she needs and not pushed aside because her condition doesn't 'FIT' one of their categories. She's such a fighter and trys her hardest at everything she does. Its so amazing to watch. She's an observer and watches to figure it out before she tackles something (kind of like mommy). She will try 10 times to get it. It does get frustrating for her and she bites her hand occasionally but we just have to encourage her as much as we can.
She's walking a bit better although still very 'toddler like' as the school evaluator put it.
She's not drooling as much anymore....only seems to be when she's anxious.
She's talking a lot more. 2-3 word sentences...but babbling a lot. She's gets her point across!
STILL Potty Training...Floor time therapist didn't think she was ready. She still wouldn't be able to manage by herself.....she'll figure it out soon!
We should hear back from the school district in a few weeks.....CROSS YOUR FINGERS.
Adam and I have been doing our best to keep her engaged and challenged everyday! Its exhausting but we're doing it! Thank goodness we're doing it together.
First day of Preschool Summer Program tomorrow.....excited for her. NERVOUS about her safety....Kids keep pushing her. I just want to run over and push them back.....
Occupational Therapy (OT): They help Emmie with her coordination and motor skills
Physical Therapy (PT): They help Emmie move the right way with ease and build muscle.
Speech Therapy: They work with Emmie on developing the right language skills. Helping her with her S and helping her to express herself by saying things like ' no biting', or 'no pushing'.
Floor Time: who knows....I think this was more for mommy and daddy to talk about the next steps and how to help Emmie deal with everything coming her way.
Once she turned three (a few weeks ago!! HAPPY BIRTHDAY!) she no longer qualifies for the same state services and gets turned over to the school system. What does that mean? Nobody seems to be able to give us a straight answer. We went for the first round of evaluations with the school district. Seems as though they don't care what the diagnosis is through Boston but that they need to determine for themselves. URG. I hope she can get the care she needs and not pushed aside because her condition doesn't 'FIT' one of their categories. She's such a fighter and trys her hardest at everything she does. Its so amazing to watch. She's an observer and watches to figure it out before she tackles something (kind of like mommy). She will try 10 times to get it. It does get frustrating for her and she bites her hand occasionally but we just have to encourage her as much as we can.
She's walking a bit better although still very 'toddler like' as the school evaluator put it.
She's not drooling as much anymore....only seems to be when she's anxious.
She's talking a lot more. 2-3 word sentences...but babbling a lot. She's gets her point across!
STILL Potty Training...Floor time therapist didn't think she was ready. She still wouldn't be able to manage by herself.....she'll figure it out soon!
We should hear back from the school district in a few weeks.....CROSS YOUR FINGERS.
Adam and I have been doing our best to keep her engaged and challenged everyday! Its exhausting but we're doing it! Thank goodness we're doing it together.
First day of Preschool Summer Program tomorrow.....excited for her. NERVOUS about her safety....Kids keep pushing her. I just want to run over and push them back.....
Sunday, April 10, 2011
THANK YOU
Wow! Thank you everyone for all your love and support. Its comforting to know we have such a great support system.
An update coming soon....
Emmie is doing well and developing in leaps and bounds.
Love Corrie and Adam
An update coming soon....
Emmie is doing well and developing in leaps and bounds.
Love Corrie and Adam
Tuesday, February 15, 2011
Overwhelming Response
WOW. Thank you everyone so much for the overwhelming response. I wasn't expecting so many comments and support. Its nice to know Emmie is inspiring people already.
There have been a lot of people asking how they can help by raising money etc. As the comments were coming in suggesting it I was worried it would seem weird.
Since there seems to be so much interest in this cause and our story I am looking into ways we can put this to good and raise money for not only Emmies genetic testing but for the Walsh Labs research into these brain malformations. Eventually I'd love to help other families that can't afford the trip to Boston to meet with Doctors at the top of their field or the genetic testing that insurance does not cover.
Emmie is extremely lucky to be making such great progress and I know there are so many other families out there struggling in a much bigger way. All kids deserve the same chance at great care!
Ill keep you all posted....
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