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
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