tag:blogger.com,1999:blog-48022790700937242822024-03-14T00:44:19.199-07:00Emmies StoryA Journey to Help our Daughter Walk and a Final Diagnosis of PolymicrogyriaCorriehttp://www.blogger.com/profile/11083970795506921714noreply@blogger.comBlogger15125tag:blogger.com,1999:blog-4802279070093724282.post-58602656951038647402016-01-30T07:12:00.001-08:002016-01-30T07:12:47.828-08:00YMCA aftercare<div> </div>The staff Well....hard enough as it is to find safe aftercare for your child with special needs once you find it all the bull "&!? Policies get in the way of human decency and common sense. <div>I will write an update on Emmie in the next post but I needed to get this off my chest. </div><div>The Pomelo YMCA #ymca is where Emmie has gone to aftercare for the last 3 years. At first she didn't have an aid. The staff picked her up from class and took care of her just like the other kids. They assigned one of their ppl to be with Emmie because she needs assistance opening her snacks & changing her pants if she has an accident. I picked em up early one day and saw that she was wet on her shirt. One of the kids heard me asking em why she was wet & said "ms Nikki poured water on her because she was being bad" The one person that was assigned to her broke her trust by belittling & embarrassing her in front of her peers</div><div>I told the manager and in the next few weeks ms Nikki 'resigned' as well as the manager who we loved. Something happened and the manager said she is quitting because she doesn't agree with Ymca policies. After that a new guy Christopher came in. All of a sudden Emmie wasn't allowed at the YMCA without a full time aid. AND they have nothing to do with hiring Aids...I had to do it myself and let him know. My regional center coordinator said she'd never heard of this and we started a hunt for an aid. I had to pull em out & take work off for two weeks (WITH NO REFUND) while we searched. Good Aids are very hard to come by since it's such a low paying job and very hard to get by in la on minimum wage. After going through a few ppl we finally found one. Remember the YMCA is the only aftercare option at the school for kids under 2nd grade so we are at their mercy until we win the lotto and can quit work or make enough $ to hire a full time nanny. Phew I could breath knowing Emmie was safe until....</div><div>I received a call one day from emmies aid one day saying that Emmie was crying in the bathroom because she had wet pants and couldn't change herself. I needed to come help. ???? Apparently they have a new rule that the aid is not allowed to change Emmie & Christopher told my regional center coordinator that if she's not potty trained we need to talk about her being in the program. WHAT!? Why do we have an aid? Because the YMCA is to cheap to hire more staff? Because they are to scared to have a little human decency? Something else is going on here. </div><div> I went above Christopher to his boss Greg to explain the situation. I got the whole formal dance around about policies for MY CHILDS SAFETY. A joke really. I asked Greg how he would feel if he pooped in his pants and didn't know how to change himself and someone left him in a bathroom crying?! He explained he was "doing the best he could to figure something out". Apparently throughout all the YMCA programs in the whole country not one of them has had a child with special needs that needed assistance in the bathroom changing pants once in awhile. REALLY? Makes me think there's a whole world of parents out there that have had a similar experience to ours. So now I'm trying to figure out an alternate care option for Emmie. Do you know what it's like sending your child somewhere she's not wanted? She feels it too. Right now I just want to move our family off the grid somewhere so we don't have to deal with cruel ppl. </div>Corriehttp://www.blogger.com/profile/11083970795506921714noreply@blogger.com1tag:blogger.com,1999:blog-4802279070093724282.post-5534783782457985832014-02-06T13:14:00.000-08:002014-02-06T13:14:08.110-08:00Getting Health Insurance for a Child Labeled with Special NeedsHealth Insurance...HA!<br />
I have to try to laugh when I talk about this or else the frustration is unbearable.<br />
<br />
Luckily Emmie has insurance...from what we've been hearing there was a time not that long ago that kids with special needs couldn't qualify for insurance due to their pre existing condition (bull right?!).<br />
When we moved back to LA and tried to sign her up the insurance company said they couldn't DENY Emmie coverage BUT we did find out that they couldn't charge us 200% more monthly than someone that wasn't labelled with a pre existing condition.<br />
Over the last few years I've written letters and tried to fight the insurance company with no luck.<br />
I tried to get a rate tier change for Emmie because she doesn't even need special care right now. No meds, no specialists, nothing but a normal cold and cough sometimes. We were denied because she is labelled with her condition.<br />
We have been paying almost $400 per month for her to be covered by a BARE MINIMUM policy for the last 3 years.<br />
I do have good news to report recently....all I have to say is:<br />
<br />
"THANK GOD FOR THE AFFORDABLE CARE ACT!"<br />
<br />
I hear a lot of grumbling about the act but being from Canada and seeing the similarities between the health care up there and the new affordable healthcare act I actually LOVE it!<br />
We received a letter saying that now under the new act ALL children will be receiving dental, vision and sick care visits. YAY! (shouldn't kids be covered anyway?) The cost for Emmie went DOWN to $241 per month and I'm still hoping to be able to petition for a rate tier change again now that the rules have changes and the insurance companies CANT DISCRIMINATE.<br />
<br />
Yes my insurance went up a bit under the new act but more is covered now (don't ask me to tell you about my husbands kidney stone debacle just before the affordable care act started) AND if me paying a little more a month can help Emmie and other kids with special needs actually have coverage so their families don't go into great debt then I LOVE IT.<br />
<br />Corriehttp://www.blogger.com/profile/11083970795506921714noreply@blogger.com16tag:blogger.com,1999:blog-4802279070093724282.post-21600421807987782212012-08-03T22:53:00.000-07:002012-08-03T22:53:09.294-07:00Finding Out the Cause of Emmie's PolymicrogyriaAfter we sent Emmie's MRI to <a href="http://www.walshlab.org/">The Walsh Lab</a> at Boston Children's Hospital and they reviewed everything, they thought that from looking at her scan her <a href="http://en.wikipedia.org/wiki/Polymicrogyria">Polymicrogyria</a> was caused by the GPR56 gene mutation.<br />
DR Walsh told us that they only knew of 25 cases of the <a href="http://www.walshlab.org/search.php">GPR56 </a>mutation in the world and that most of those cased are in the middle east. WHAT?!!? Strange.<br />
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.<br />
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).<br />
<br />
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.<br />
<br />
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.<br />
<br />
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.<br />
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?<br />
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.<br />
How is this even possible?! We're not odds people! How did WE end up with such a rare thing?!<br />
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.<br />
Then I felt GUILTY...it was Adam and I that gave this mutation to Emmie.<br />
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.<br />
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.<br />
<br />
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.<br />
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!<br />
<br />
We try to stay positive. Adam and I both have our bad weeks BUT WE ALWAYS DRAG OURSELVES BACK TO POSITIVE!<br />
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.<br />
I dont know what it is about her but everyone she meets loves her. WE ARE SO LUCKY!Corriehttp://www.blogger.com/profile/11083970795506921714noreply@blogger.com0tag:blogger.com,1999:blog-4802279070093724282.post-85954619898053806222012-08-03T22:15:00.001-07:002012-08-03T22:15:41.200-07:00Four Year Old Update on EmmieMy 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.<br />
<br />
SHE'S STARTING TO REMEMBER THINGS!<br />
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!<br />
1) That Nanny bought her that toy!<br />
2) Asking for her best friend Elyse to come over and play!<br />
3) The real Rapunzel came to her birthday party and she hasn't stopped telling us that "PUNZEL CAME TO MY BIRTHDAY PARTY!".<br />
Everyday she seems to be surprising us and making us proud.<br />
<br />
EMMIE'S STARTING PRE-K IN A FEW WEEKS!<br />
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.<br />
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.<br />
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.<br />
<br />
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.<br />
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.<br />
We seem to be reminding and helping her about 80-90 percent of the time....I know she'll get it eventually!<br />
<br />
SHE'S MAKING FRIENDS!<br />
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!<br />
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? :)<br />
<br />
HER BALANCE AND COORDINATION IS GETTING BETTER<br />
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.<br />
She has been trying the stairs more although still asks for help and takes her time.<br />
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.<br />
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)Corriehttp://www.blogger.com/profile/11083970795506921714noreply@blogger.com2tag:blogger.com,1999:blog-4802279070093724282.post-82605493678687305212012-08-03T21:38:00.001-07:002012-08-03T21:38:39.410-07:00Therapy Services in LAUSDWell...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.<br />
<br />
Emmie has had 4 therapies every week:<br />
1) Occupational (at the local elementary school)<br />
2) Speech (at the local elementary school)<br />
3) Physical (at the local elementary school)<br />
4) Physical in a gym setting (Hughes Center in Woodland Hills has a therapy gym for kids)<br />
<br />
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.<br />
Im so proud.<br />
<br />
RESOURCES FOR CHILDREN WITH SPECIAL NEEDS IN THE LOS ANGELES AREA:<br />
<br />
1) LAUSD <a href="http://home.lausd.net/">http://home.lausd.net/</a><br />
2) NORTH LOS ANGELES REGIONAL CENTER <a href="http://www.nlacrc.org/">http://www.nlacrc.org/</a><br />
3) CALIFORNIA EARLY START <a href="http://www.dds.ca.gov/EArlyStart/Home.cfm">http://www.dds.ca.gov/EArlyStart/Home.cfm</a><br />
<br />
<br />
<br />Corriehttp://www.blogger.com/profile/11083970795506921714noreply@blogger.com0tag:blogger.com,1999:blog-4802279070093724282.post-33029390060101179172011-06-26T22:02:00.000-07:002011-06-26T22:02:54.790-07:00The Offer (for now) from LAUSDWell......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.<br />
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.<br />
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).<br />
OPTION 1<br />
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....<br />
OPTION 2<br />
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.<br />
Adam and I are torn by what to do.<br />
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?<br />
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:<br />
<a href="http://www.sensoryedge.com/activeplay1.html#pagingTop">www.sensoryedge.com</a><br />
A little annoying that the prices are so high as they know people need these things but whatever.<br />
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).<br />
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. <a href="http://www.facebook.com/home.php?sk=group_21776108327&ap=1">Polymicrogyria Group Facebook</a><br />
<br />
Corriehttp://www.blogger.com/profile/11083970795506921714noreply@blogger.com0tag:blogger.com,1999:blog-4802279070093724282.post-86283724354058075542011-06-19T15:22:00.000-07:002011-06-19T15:22:00.235-07:00Trying to get Emmie therapy after she's 3Well....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 <a href="http://www.dds.ca.gov/RC/RCList.cfm">Regional Center </a>(5 separate appointments each week...which is interesting to juggle as a full time working family).<br />
<a href="http://en.wikipedia.org/wiki/Occupational_therapy">Occupational Therapy</a> (OT): They help Emmie with her coordination and motor skills<br />
<a href="http://en.wikipedia.org/wiki/Physical_therapy">Physical Therapy </a>(PT): They help Emmie move the right way with ease and build muscle.<br />
<a href="http://kidshealth.org/parent/system/ill/speech_therapy.html">Speech Therapy</a>: 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'.<br />
<a href="http://autism.about.com/od/developmentaltreatments/a/floortimeskills.htm">Floor Time</a>: 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.<br />
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.<br />
She's walking a bit better although still very 'toddler like' as the school evaluator put it.<br />
She's not drooling as much anymore....only seems to be when she's anxious.<br />
She's talking a lot more. 2-3 word sentences...but babbling a lot. She's gets her point across!<br />
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!<br />
We should hear back from the school district in a few weeks.....CROSS YOUR FINGERS.<br />
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.<br />
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.....Corriehttp://www.blogger.com/profile/11083970795506921714noreply@blogger.com1tag:blogger.com,1999:blog-4802279070093724282.post-80381887744435340882011-04-10T08:24:00.000-07:002011-04-10T08:24:26.284-07:00THANK YOUWow! Thank you everyone for all your love and support. Its comforting to know we have such a great support system.<br />
An update coming soon....<br />
Emmie is doing well and developing in leaps and bounds.<br />
<br />
Love Corrie and AdamCorriehttp://www.blogger.com/profile/11083970795506921714noreply@blogger.com0tag:blogger.com,1999:blog-4802279070093724282.post-73088855372195194782011-02-15T13:59:00.001-08:002011-02-15T13:59:30.234-08:00Overwhelming Response<div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">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.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">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.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">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.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">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!</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">Ill keep you all posted....</div>Corriehttp://www.blogger.com/profile/11083970795506921714noreply@blogger.com2tag:blogger.com,1999:blog-4802279070093724282.post-71081492599603541562011-02-12T20:51:00.001-08:002011-02-12T20:51:25.475-08:00The Beginning<div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">I want to put our story out there so that I can create awareness for other parents who might be going through the same thing. There are not many resources out there.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">Emmie was born in 2008 after a normal pregnancy and labor. She was very alert and social (and beautiful) right from birth. We were of course (as new parents) comparing her development to the online charts and books we had. At a few months old we started noticing that she was a little behind with rolling over..then sitting...</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">I had asked the pediatrician a few times about it and was told "don't worry mom all kids develop differently..she might just be a little lazy". I was made to feel like I was overreacting being a first time mom....part of me wondered if I was.. but I kept asking.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">Emmie started crawling at 1 year and we were so proud. She was finally able to get around and look at things. A little frustrating as the other kids her age were walking but she didn't mind and still got right in there with them. We still kept trying to encourage her to walk and waiting.....just thinking she was a little behind.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">We changed pediatricians when Emmie was 1.5 years old. Right off the bat he noticed that her <a href="http://en.wikipedia.org/wiki/Gait">gait</a> was wide and that we should go get her evaluated with the Early Steps Program that was run by <a href="http://www.easterseals.com/site/PageServer">Easter Seals</a>.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">Of course at the evaluation she took her first step (yay!!!!).....but the evaluators said she could benefit from <a href="http://en.wikipedia.org/wiki/Physical_therapy">Physical Therapy</a> as they thought she had <a href="http://en.wikipedia.org/wiki/Hypotonia">Hypotonia</a> (low muscle tone) and Special Instruction Therapy at home to help her (and us) figure out some sensory trouble Emmie had. Certain noises really bothered her as well as new textures, grass, sand...you name it.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">Julie who was Emmie's Physical Therapist was great. She suggested Emmie have braces fit for her ankles to have more support and she continued to work on strengthening her muscles. She began to walk at her second birthday (YAY!!!!!). We were SOOOO relieved, happy and proud. She tried so hard to figure out this walking thing and she FINALLY DID IT!! She was now able to explore things she never could. We cried!!</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">Sylvia was Emmies Special Instruction therapist....shes an amazing help and a great ear. Probably not part of her job description but she was a great person for me to talk to. Sylvia worked with Emmie on her sensory issues. We tackled the grass and the sand!! You cant keep Emmie away from the sandbox now...she loves to dump it on her head. As much as I want to tell her no I'm just happy she's not afraid anymore.</div>Corriehttp://www.blogger.com/profile/11083970795506921714noreply@blogger.com0tag:blogger.com,1999:blog-4802279070093724282.post-22024400645749136902011-02-12T20:51:00.000-08:002011-02-12T20:51:08.497-08:00The MRI and the Results<div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">A little after her second birthday she had an ear infection and Julie and I were noticing that her balance was just not getting any better after months of walking. Emmie fell a lot and just couldn't catch her balance for more than 5 steps. I also noticed that E was having a hard time grabbing things (almost like her depth perception was off). She thought that E should go see and <a href="http://en.wikipedia.org/wiki/Otolaryngology">ENT</a> as it might be an inner ear thing.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">I talked to my pediatrician about it and after telling him about the balance and depth perception he didn't think the ENT was the right person. He sent me to a <a href="http://en.wikipedia.org/wiki/Neurologist">Neurologist</a>. A Neurologist?!! Not what we were expecting but I guess its better to cover all bases. Not a big deal ...there couldn't be anything wrong. Right?</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">The Neurologist saw us right away and after telling him about the balance, low muscle tone and depth perception he suggested that Emmie have an <a href="http://en.wikipedia.org/wiki/Magnetic_resonance_imaging">MRI</a>. We were a little shocked and scared. <a href="http://en.wikipedia.org/wiki/Sedation">Sedating</a> our little girl while they did the MRI freaked us out. But we didn't have another option and wanted to make sure everything was OK.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">The MRI appointment came fast and I was very nervous. Its a horrible thing as a mother to put your child through something like this because they just don't understand whats happening. They look to us for protection from being hurt.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">The doctors came in the room and tried to distract Emmie with toys while I filled out paper work. I started feeling like I was in a tunnel after reading all the Dr garble about the sleep medication possibly being harmful to Emmie. After the paper work was filled out my husband and I had to help hold Emmie down while they put the IV in. It was the worst thing I have had to do. She was screaming my name and looking and me wondering why. I fainted.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">I felt like I failed her.....trying to be strong but couldn't. Its amazing that stress can shut your body down like that....I never knew. My poor husband now had to worry about the two of us.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">Emmie is a fighter and it took double the medication before she was finally asleep. Brave girl!</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">When I was released from the ER feeling terrible and groggy...Emmie was finished with her MRI and outside playing in the grass with my husband like nothing had happened. She's my hero! Kids are so resilient.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">It feels like it took us forever to get the results but they called to move our appointment to an earlier date. Hummm...maybe they're just being accommodating I thought. I hope...</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">We went in on a Monday morning and sat in the Neurologists office. He came out right away and said "Well...the results weren't good. Emmie has a brain condition called Pachygyria"</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">A BRAIN CONDITION?! Not something we were ever expecting to hear about our daughter. I went into a tunnel...trying to listen to the Dr's diagnosis and hold myself together.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">He also mentioned that she had fluid on her brain and might need <a href="http://en.wikipedia.org/wiki/Cerebral_shunt">a brain shunt</a> as well.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">AND an old <a href="http://en.wikipedia.org/wiki/Cerebral_hemorrhage">hemorrhage</a> in her brain. DOES THIS EVER END?</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">He told us that Pachygyria was rare and that he didn't know much about it. He advised us to go online and learn a little more. We had SOOO many questions. Did he really just tell us to go online to research?</div>Corriehttp://www.blogger.com/profile/11083970795506921714noreply@blogger.com0tag:blogger.com,1999:blog-4802279070093724282.post-40446805807165022332011-02-12T20:50:00.001-08:002011-02-12T20:50:48.193-08:00EmotionsWHAT? Am I dreaming or is there really a Dr telling me right now that my perfect child has a brain condition, might need surgery and he didn't know what he future looked like?<br />
<br />
My husband and could not believe this was really happening. Somehow we had convinced ourselves that Emmie was just behind from the low muscle tone and walking late. The Dr could not tell us what kind of life Emmie would now have. Would she eventually catch up to the other kids? Could she function at a normal school? Would she live with us forever? These are all questions we asked.....these are all questions he also did not have answers for.<br />
<br />
We went into a state of shock at first I think. Very depressed....it was almost like we were mourning the future we felt our daughter was just robbed of. All the dreams we had for her...will she ever be able to achieve them?<br />
<br />
I thought it might be my fault..looking online it said that if its not a genetic malformation that it might be something that happened while I was pregnant. I was the most careful pregnant womanever...I DIDNT EVEN DRINK CAFFINE! HOW IS THIS POSSIBLE? Could it have been the few prenatal vitamins I skipped?<br />
<br />
I know...crazy...but these are things that go through your head.<br />
<br />
I was overwhelmed by the emails everyone was sending. Almost trying to fix it or send me in different directions with tips and links to different websites. I was OVERWHELMED. I had to stop answering my emails and I couldnt tell one more person about it over the phone. Everytime I would retell it I would relive it again.<br />
<br />
We had a family trip planned for Thanksgiving right after we got the results and we wanted to go. It was amazing a to have family around at a time like this, but I think we were both hoping that no one would talk about it and that we could forget even if it was just for a minute.<br />
<br />
All I could relive in my head over and over again was "well....the results aren't good"Corriehttp://www.blogger.com/profile/11083970795506921714noreply@blogger.com0tag:blogger.com,1999:blog-4802279070093724282.post-16879528079687979062011-02-12T20:50:00.000-08:002011-02-12T20:50:18.556-08:00The Next Step and Finding the Walsh Lab<div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">As a mother I felt like I went into survival mode.....searching frantically online for any information. There was very little. Only some very general information that was actually quite scary. <a href="http://en.wikipedia.org/wiki/Seizure">Seizures</a> and shorter life expectancy. So many different variations of this condition that it was hard to tell where Emmie fit.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div></div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">I did find a blog that said that if your child was diagnosed with Pachygyria...sometimes its a misdiagnosed and that you should contact the <a href="http://www.walshlab.org/">Walsh Lab</a> at Boston Children's Hospital. I immediately contacted them after seeing that they are leaders in research for this disorder and seemed to know everything there is to know about Emmies condition.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">They said that they would look at the disk to see if Emmie would qualify for their research study and also give us an informal second opinion.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">I sent Emmie's MRI disks for them to review as fast as I could just before Thanksgiving!!</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">After bothering poor Brenda many times checking in (I was TRYING to be patient) to see what their conclusion was...she finally called me just before Christmas.</div></div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">They thought Emmie had been misdiagnosed and they thought it was <a href="http://en.wikipedia.org/wiki/Polymicrogyria">Polymicrogyria</a> instead</div></div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">Similar condition but Emmies brain has more folds as apposed to less folds with the previous diagnosis <a href="http://en.wikipedia.org/wiki/Pachygyria">Pachygyria</a>.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">It was bitter sweet....They thought that Emmie would still get the seizures but that she DID NOT need the brain shunt surgery. They also thought that Emmie had a rare gene mutation called <a href="http://www.walshlab.org/pdf/Parrini_BFP_PMG_Lennox-Gastaut_GPR56_mut_Epilepsia_2009.pdf">GPR56</a> that we should test her for.</div></div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">I was trying to listen to everything Brenda said but I felt like I was in a dream. Trying to write everything down and not wanting to let her off the phone....I had SO many questions.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div></div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">We decided to make an appointment to visit them in Boston so they could meet Emmie and we could get the answers we weren't getting from Emmies Neurologist in Florida.</div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div></div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;">It was the longest month EVER waiting for that appointment. A month of fighting insurance to try to get the meeting in Boston covered. With a lot of persistence from myself and Emmies pediatrician we FINALLY got the meeting covered two days before we left for Boston and only because the Dr's in FL didn't seem to know about the condition. It is doable....you need to be persistent!!! (now getting genetic testing covered...thats another story)</div></div><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><div style="margin-bottom: 0px; margin-left: 0px; margin-right: 0px; margin-top: 0px;"><br />
</div></div><div></div>Corriehttp://www.blogger.com/profile/11083970795506921714noreply@blogger.com0tag:blogger.com,1999:blog-4802279070093724282.post-7284109412834859582011-02-12T20:47:00.001-08:002011-02-12T20:47:42.195-08:00Our Trip To BostonFinally it was here after months of going crazy with different outcomes in our head. Of course Emmie came down with strep throat and we had to push the flight a day but we made it! Monday was our appointment day and the coldest day on record in 6 years for Boston. My husband and I were in a twilight zone that morning....finally the day we were waiting for was here. Are we going to get bad news?<br />
You want to try to be positive but we realized that if we prepared for the worst but hoped for the best it would be easier for us to cope if there was bad news.<br />
When we walked in the doors at the <a href="http://www.childrenshospital.org/">Boston Children's Hospital</a> we were amazed....it was like a small city. Lots for the kids to play with...and a HUGE fish tank.<br />
We made our way up to the genetics department and only waited for a few minutes.<br />
We met with 4 of the Dr's in the <a href="http://www.walshlab.org/">Walsh Labs</a> Brain Development and Genetics Clinic and were AMAZED at how detailed they were. They explained everything to us and helped us understand.<br />
They were also amazed by our little Emmie. Apparently from her MRI she really shouldn't be walking. BUT SHE IS!! GO EMMIE!<br />
Her determination and our persistence is paying off!<br />
<br />
Our questions were finally being answered:<br />
-They said that she would most likely get the <a href="http://en.wikipedia.org/wiki/Seizure">seizures</a> in time but they can be controlled with medication.<br />
-She didn't need the <a href="http://en.wikipedia.org/wiki/Cerebral_shunt">shunt</a> put in.<br />
-After seeing her they were delighted to see she was doing so well and said she should be able to function in a regular school with a little extra help.<br />
-It was nothing I did while I was pregnant that would have caused this.<br />
-They didn't think there was a <a href="http://en.wikipedia.org/wiki/Cerebral_hemorrhage">hemorrhage</a>...they thought it was part of the <a href="http://en.wikipedia.org/wiki/Polymicrogyria">Polymicrogyria</a>.<br />
-We should continue with Emmie's therapy as whatever we're doing is working.<br />
<br />
They had also mentioned again that they thought Emmie had a gene malformation called the <a href="http://www.walshlab.org/uploads/publications/11/bilateral_frontoparietal_polymicrogyria.pdf">GPR56</a> gene which sometimes goes along with Polymicrogyria. They advised that we have genetic testing done to confirm.<br />
When Brenda had mentioned this on our results phone call in December I had gone through the painful process of trying to get insurance to cover this testing. Genetic testing is something that most insurance companies DON'T cover since they feel it is only a way for the parents to make reproductive decisions. REALLY? What if we didn't have the testing and had another child that was worse off than Emmie on their insurance policy?<br />
Doesn't seem like a smart choice on the insurance companies part but THEY WOULDN'T COVER IT. The testing was going to cost around $4000. We decided that we had to wait and save more money. Our decision on having another baby could wait.<br />
<br />
The outcome of the gene test wouldn't effect Emmies immediate treatment until they made new discoveries through research.<br />
If she has the GPR56 gene...there is a large possibility that my husband and I are both carriers of this rare gene. This would mean that if we decided to have more children that there is a 25% chance that our other children would also carry the gene.<br />
Since Emmie is such a rare case and doing so well....they cant assure us that other children we would have with the GPR56 would also do as well as Emmie and could actually be much worse. OUR LITTLE MIRACLE! We love her so much!<br />
<br />
The Walsh Lab sat with us for much longer than we thought they would be able to and answered ALL our questions (I had a list as long as my arm).<br />
I've never met such an amazing group of people that made us feel so comfortable and put our minds at ease considering the situation we are now in.Corriehttp://www.blogger.com/profile/11083970795506921714noreply@blogger.com0tag:blogger.com,1999:blog-4802279070093724282.post-90402224837730679812011-02-12T20:47:00.000-08:002011-02-12T20:47:16.399-08:00Coming Back HomeAfter coming home we were almost in a twilight zone. We had finally gotten the answers we were looking for. Now what?<br />
<br />
All we can do is give Emmie the best possible care and hope that she continues progressing.<br />
<br />
Our problem seems to be that on the <a href="http://www.blogger.com/goog_572672840">Battelle</a><a href="http://learningdisabilities.about.com/od/intelligencetests/p/battelledevelop.htm">Test </a>that some of these Early Step programs use to gage whether or not a child should get therapy from the State Emmie doesn't score low enough to qualify for services. But at the same time we are being told that she needs the therapy to continue so that she can keep up with the other kids as her brain condition makes it many times harder for her to learn certain things.<br />
<br />
This is something we have to pay for? If I do the math at 5 sessions a week covering Physical Therapy, Occupational Therapy and Speech therapy that adds up REALLY fast and although we make an ok living this would really change our financial future.<br />
<br />
The Early Steps programs only go until the child turn 3 anyway (most states have them). Once the child turns 3 they might possibly get therapy through the school system? (Once I get more information and figure this all out Ill let you know.)<br />
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As Emmie is getting more adventurous wanting to climb the playground equipment and do what the other kids her age are doing I get worried. She is so unstable and could be pushed over by your finger. Other kids don't know to watch....or be careful and Emmie is to shy to stand up for herself. She really has to think about her next step and where it should go and needs to take her time. The other kids just fly right past her.<br />
<br />
She is trying so hard and really doing the best she can. She is so determined and will try again and again until she gets it. I hope this doesn't shake her confidence at all as she gets older. It'll be our job to make sure she stays the confident little girl she is today and protect her in anyway we can without being overbearing.Corriehttp://www.blogger.com/profile/11083970795506921714noreply@blogger.com1