I envy ALS and the Ice Bucket-ers

gasp....

WTF did this chick just say??? I AM IN NO WAY SAYING ALS IS NOT A GREAT CAUSE TO DONATE TO OR SPREAD AWARENESS FOR. 

BECAUSE IT IS. 

ALS is a heart breaking awful disease that we need to find a cure for. That much is unquestionable. But I'm jealous. Let me try and explain myself. Im going to back up a bit here.

Do you know what an orphan disease is? Because I know I didn't.

Until my chid was diagnosed with one.

An orphan disease is a disease that the medical community as a whole has turned their backs on. Pontocerabellar hypoplasia and CASK gene mutation/deletion are so rare that really none is even trying to research them. Let alone find a cure.

I have really LOVED watching everyone come together to get some exposure and some money for an amazing cause.  I wish with my entire being that I could start something similar to this for our children. But what would be the point? There is no place to donate to . There is nobody trying to figure this out. One mom started a dance challenge in honor of rett syndrome and the hope that our kids will someday dance. I have been tagged and will make a silly video with sophia soon. Because I'm all for spreading awareness of any kind. But I'm Sad i can't start a PCH challenge that will make an impact on the face of the disease.

Between those of us with children impacted with PCH and CASK we have managed to find a hand full of clinics and researchers who are making small moves on an individual basis. Trying to drum up some interest in the international medical community.  But As a whole there is no "find a cure" movement for our children. and its heartbreaking.

Her nuro-genetics doctor told me on the day she was diagnosed that even SHE couldn't find anyone who was leading the reaserch . So i don't have any major revelations on this one folks. Im still working on finding the silver lining to this particular rain cloud in my conscience. But I just wanted to let you guys know.

So that is why I'm jealous of ALS and all the ice bucket victems around the country. Because if I could I would think up some equally cool challenge and start a viral sensation of my own.
Maybe I still will. Bur as usual i search for ways to make PCH and CASK relevant in the lives of the unaffected. That is my personal struggle.

I LOVED watching you guys all go crazy drowning yourselves with ice cold water. good times. but every smile I get from it also makes me a little sad.

I just wanted to share that I hope I can challenge you all someday.

13 inches to My Heart

Recently Sophia has learned to do something.
This is something I never ever imagined would happen. It was something that I secretly didn't like to watch other kids do, because it was a reminder of my own lacking.

I didn't tell anyone outside my immediate family about it , there was no excited  Facebook post proclaiming her new ability. (even a broken clock is right twice a day. )
 I was afraid it was just chance or luck the first time it happened. There are certain things i have just accepted as truth because well its just easier then holding out hope in some areas...

but much to my utter amazement it continues ! 

I bet your asking yourself what did she do.... ?!

the answer may seem rather simple to you...... She reached for me. thats it.

You know how at about 7-9 months maybe even before that , kids start to reach up for their moms?whenever mom approaches they look up , smile and reach out their arms?
Well its something sophia never did. It never emerged, much like all of her other milestones it was severely delayed.I'm still not sure if or what milestones she will hit or when.
So when anything new happens, its HUGE for us.

It shows that her brain is growing , she is making connections, she is learning. New skills are the only goalposts i have to gauge her on. Its like a ray of hope sent from above. Another dose of mommy motivation for me to keep at it. To continue working her body through the motions everyday. To keep putting her in her adaptive equipment. Not to give up or give in. Its black and white proof that what i am doing everyday matters.

Its my validation..

It literally melts me, breaks my heart in the best way.Fills me with pride . She makes me feel like the luckiest one on the planet. She does it for her father too (usually when she wants to be saved from me).

She has Sensory Processing Disorder, meaning that lights, sounds, noises, textures, and certain environments can be extremely overwhelming for sophia.  So as a small baby she didn't reach out for anything.. AT ALL. not toys, not her bottle, not us.. nothing. it was heart breaking to watch and realize.. that your child is literally afraid of everything....and it pissed me off , like most other things about her condition.. I resented it so severely. To this day we still have mountains worth of work to do in the SPD department. BUT i will say she is interacting with her bottle a bit, Plays with a very specific set of stuffed toys and blankets and now i can proudly say SHE REACHES FOR US TOO !!!

She's doing it, She's winning this fight. I don't know how she is beating the odds, but my god she IS..
I just can't tell everyone how proud I am to be able to say this. Its so easy to sit in your my misery, to believe whole hardly that the sky is always on its way down.
But thank god for this little girl.
She is they only person in my life that can't speak with words, yet she always knows exactly how to get the right message to my soul. She always knows the exact moment i need some hope or a sign the most.
Never have I ever doubted that she was meant to be mine. Our connection is so strong that I swear I have loved her before, over the course of a thousand lifetimes. Like she has always been mine.

Some people can go their entire existence and not feel 1/10th of the love that sophia shows me. She gives me everything without even knowing she's doing it. I am so blessed to be allowd such pure love. When she looks up at me and in that split second realizes its me. She smiles a huge open mouth smile. kicks her legs wildly. and then it happens..

She extends her two small arms reaches about thirteen beautiful inches straight to my heart .

                                               (a few weeks back at a GI Appt )

Selecting Sophia's wish

It took me almost 6 weeks to decide what to put through as a request for Sophia's Make-A-Wish. 

 And honestly it was a hardest six weeks that I've had in a really long time. You would think the brainstorming for an all-expenses-paid trip would be the opportunity of a lifetime . The chance to let your mind run free and open up your dreams. 

But for me it was just another really hard reminder of the fact Sophia can't communicate her wants to the world. I couldn't tell you if she would have more fun on a snow-covered mountain or in Jamaica or in Italy or in Australia I couldn't even begin to fathom where Sophia would want to go. And it broke my heart. 

Then I got so mad , so very mad at myself for being so upset and for even allowing myself to be emotional over something that is supposed to be a blessing. This is supposed to be the best thing that's happened To us in a long time. 

it's supposed to be a really exciting time for my family and all I could find the strength to do was be upset. What's worse is I was upset about things that were inevitable, I was upset about things that I had already dealt with, I was upset about things that I had already conquered and yet somehow because of this Make-A-Wish trip it was like the first day of her diagnosis all over again .  

And I thought long and hard about that about how ironic it was that I was being given opportunity anyone else would do just about anything for and yet the way it affected me was so negative. 

They say to do your research they tell you to look up other families that have gone on trips . They tell you to let your children dream with their heart.  But because We had to make this choice for her I was trying to dream with my heart but my heart was kind of broken. 

The obvious choice with Make-A-Wish is Disney World but initially I wasn't ready and I'm still not sure that I am not ready to go there and see all of these kids taking it in and being so amazed by the magic on having Sophia be miserable having Sophia be over heated, having Sophia be confused or overwhelmed in a place supposed to be the happiest place on earth for kids. I was worried that I wasn't going to be able to take that, but I would have to take carrying my screaming daughter out of Disney World because she's so overwhelmed and overheated and unable to be a part of that environment it would be the final straw.  

So I pretty much put Disney at the very bottom of my list and begin to brainstorm other areas of United States and I thought she would enjoy . 

I wanted to go do San Diego California because I think it's beautiful there the weather is perfect I wanted to do Lake George because it's gorgeous there and it's exactly my kind of vacation but neither one of those places were for Sophia there was nothing there for her. The harder I tried to get away from Disney the more I ended up hurting myself because the more and more I realize that there's nothing for Sophia anywhere . No matter where we are she still not going to want to participate in anything so it's totally irrelevant and nonsensical for me to fly her all the way across the country to California for a trip that she's literally not going to be able to comprehend. 

Eventually we ended up going back to the Disney World idea. I had two meetings with my Make-A-Wish team before I made up my mind as to what I wanted to do I just wasn't sure and I wasn't ready. 

I'm still not sure that we made the right decision but I'm sure were going make the best of it. 

If anyone knows Sophia they know that Mickey Mouse is her main man the sun rises and sets with Mickey Mouse in this house. He is Sophia's whole universe so taking her anywhere besides Disney World made no sense . 

At the end of the day I just had to swallow my fear and accept the fact that Sophie is going to do Disney Sophia's way . Much like everything else in our life our vacation will look a little different than yours but it won't be any less enjoyable. 

it's just something I need to really get my head around that different is okay and as much as I preach it to you guys I still don't have it. I still don't believe it everyday and it's a process.  

My own personal challenge as of late has been to not let fear be my driving motivation in my decisions it's really a struggle for me I was really honestly surprised by how much strife this blessing brought to my world . 

But I'm proud of myself for making the decision that I made. 

I'm proud of myself for giving into Disney and for just going for it. Because since I was five years old I have wanted to go to Disney World. Every little kid wants to go to Disney. Hell, the little kid inside of all of us still wants to go to Disney.  Even if you've already been, It's the most magical place ever . 

So in the end it wasn't  California, it wasn't Lake George it wasn't some international dream vacation.. It was the land of the mouse.

 

I truly believe that if Sophia could understand the concept of Disney World and could understand what was going on that would unequivocally be her choice,  to go see Mickey Mouse.  To go see were Mickey Mouse was born to go see where it all starte. Seriously if anyone knows her they know Mickey Mouse is her whole thing so I'm pretty excited to be able to take her to wear it all started. 

 We met with the wish grantors submitted our official wish and found out about six weeks later that we were approved for our trip to Disney World were going in September will be staying at a place called give kids the world Village. 

it's a village dedicated entirely to kids with serious complicated medical disorders and their families so that they can have an at-home experience away from home near all of Florida's main attractions, so will be 10 minutes from everything we get tickets to all the major parks.  A seven-day six night all expense paid vacation to Florida where will go to Disney's Magic Kingdom, Animal kingdom, Epcot,  Universal Studios, Disneys Hollywood studios and seaworld  . Even going to finish the week off with Epcots food and wine festival and then Mickey's not so scary Halloween party. I'm really excited for the opportunity to be able to get away for a week. 

To be able to just enjoy my daughter and my man and to be able to just be a family and to not have to worry about prescriptions and therapies and adaptive equipment and making sure that her diet is just right, no making sure that all the little pieces fall into place so that I can have a productive week. Literally just get to throw my hands up in the air be a mom enjoy my daughter see her smile and have fun. 

The wish grantors turned it around for me they're amazing the woman looked at me and she said "listen just because you're going to Disney doesn't mean you have to do Disney everyone else's way there's nobody that is going to be standing there waiting for you at every park checking on whether or not you come on time and whether or not you're doing everything you should do the whole point is for you to get away and enjoy being a family don't overthink it.  Don't think yourself out of enjoying something that's supposed to be an amazing experience for you and your family." 

 Thats exactly what I was doing just overthinking it. Sometimes, not even sometimes all the time I need to learn how to separate Sophia from her diagnosis. She still a three-year-old little girl who loves Mickey Mouse and shame on me for discounting that. Honestly shame on me for even letting myself go there anymore I'm so much stronger than that weak minded mentality, the oh my God what-ifs... I'm so much stronger then that . It's not like I'm going to be with her alone her father will be there with us all week, we will be enjoying it as a family making the best of it as a family. For me that's the most important part and the only thing that I needed to know.

And looking back on the whole process I can't even tell you guys how excited I am to be able to take my family to such a magical place and to be able to just embrace it and enjoy it and laugh, just laugh so hard it hurts and the smile so much that at the end of the day our cheeks and our gums hurt from it . I can't wait because since I gave birth to Sophie we may have had A day like that, but we haven't gotten more than one at a time because there's work and responsibilities, the world is out there and we have to tend to it. can't hide from it. So I'm just so overjoyed at the opportunity to be able to truly just absorb a week as a "normal" family doing something "normal" as stupid as that N-word sounds to me... 

I need it.. I literally crave this experience and I can't wait to just make these memories as a family . 

SIX WEEKS TO GO !!! That's 42 days😉