Tag Archives: tetrasomy 8p mosaicism

She Goes A Walkin’ After Midnight…

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I truly did not think this day would happen, from the first time I heard the words “tetrasomy 8p mosaicism”.  I thought, “What is going to happen to my little girl, my perfect little girl?  Will she ever be able to walk or feed herself or talk or get married?”.

Well, I sit here today, proud to type that my little girl IS going to walk, she DOES feed herself and she IS going to talk.

Now, let’s back up…let’s talk about the walking part…as a matter of fact, let’s not talk…WATCH!

FIRST INDEPENDENT STEPS (3 to be exact – it happens around :29)!!!!!

MEDEK…Did Someone Say MEDEK?

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The word on session 2 of MEDEK…SENSATIONAL!  The progress Josephine continues to make with Azriel is just incredible.  Honestly, beyond what I thought was possible at this time, so quickly into the therapy.

I cannot describe my emotions any more than using the word “HOPE”.  The hope that Josephine can achieve what she deserves.  Now and throughout her life.

The 7 SECOND STAND

MEDEK, Azriel and Josephine

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I don’t even know where to begin this post.  I am filled with excitement, pride, wonderment, anticipation, love, joy and just plain happiness!

After much resistance, mainly because of finances, we decided to give MEDEK a chance (a portion of the funds from the Knights of Columbus Council 3533 Pasta Dinner is funding this).

What’s MEDEK?  Click on this link for all the details… http://www.cuevasmedek.com/.

In my words, it’s a form of therapy that focuses on the use of the child’s balance and core muscles to improve gross motor skills like standing and walking.  But what I can say now can’t even express what these videos show.

And WHO is Azriel Novogroder?  The extremely patient and caring PT that has 15 years experience with MEDEK.  He was trained by the creator of MEDEK, Ramon Cuevas.  Many families must travel across the country to meet with Azriel and I feel blessed he is in our backyard (well, up the Garden State Parkway about 29 miles, but that’s better than having to travel from Wisconsin or Maryland!).

Based on Azriel’s evaluation, Josephine will see him once a week for 8 weeks, at which point a re-assessment will take place.  Azriel has already said he can see great things coming from Josephine.  Well, of course, she’s our little girl with so much spunk, drive and love.  She won’t give up and neither will we.

There are 10 (yes, 10) videos here.  Take a your time, grab a doughnut and coffee or glass of wine and some chocolate and enjoy the gift given to us this Christmas 2010.

(A word to those affected by the crying, turn down the volume because it’s loud and steady).

Merry Christmas, Dearest Family and Friends!  It truly is for us.

Azriel & Josephine Meet

***My Second Favorite:  Balance Board

The Box

Leaning on the Table

Standing and Squatting

Starting to Walk

****MY FAVORITE:  First Step and Long Squat

Sit to Stand and Stepping

Assisted Walking

End of Evaluation

Cruisin’ with Friends

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Well, cruising with one friend, although Josephine would disagree about the friend part, at least in this video.  Yes, she loves Lana (PT), but not that day.

Josephine transitions to 3 different surfaces, which is huge – from ottoman, to chair, chair to couch and couch to table.

Almost ready to walk.  Man, that’s so cool to say.  My little girl…walking.  Wow.  What a dream come true that will be!

Weight Check at 28 Months

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Not a great day today.

Josephine had a weight check today and it was not what I had hoped.

She did not lose weight, but she didn’t gain any either.  In 3 months, Josephine weighs exactly the same…18 lbs, 11 oz.  She did grow 1/2 an inch, up to 32 1/2 inches.

I am so bummed out with this news.  I know I shouldn’t be and I know it will get better, but right now, not feelin’ so hot.

My mom told me not to focus on the negative and worry about the next step later, but I don’t want to.  I don’t have to.

I want to feel what I feel now and I don’t need anyone to tell me not to feel that way.  I know that sounds snotty and insensitive and that’s not how it’s meant to sound, but it does.

I can’t help how I am feeling now and I am not trying to stop it.  I feel like I am letting Josephine down.  I feel like I let myself down.

Working at Weight Watchers, I tell people it’s not the numbers on the scale that matter, it’s how you feel inside and how your clothes fit outside.

But not my little girl.  She needs every ounce she can get.

Yes, she is doing amazing things in therapy and in life right now.  She’s cruising (yep, you read right!), she following simple commands (give me, put the mail in the mailbox), she’s recognizing animals and saying them by name, she’s counting to 5 (or approximating the sounds).

But she’s not gaining weight.

I am scared about what the GI Doc will say…G-Tube.  Night time feedings.  G-Tube.  G-Tube.

We are working so hard to avoid it and I hope it doesn’t go that direction.  Guess we will find out when we see Dr. Sunaryo (GI) and Mitch (Nutritionist).

Until then, guess we will be heading to Cold Stone Creamery every night!

Might as well enjoy this journey any way we can, right?!  Cookie Doughn’t You Want Some here I come!

Well…Hello to You Too!

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HI!!!  I’ll take this for a Christmas present any day!

And here’s Josephine waving and having fun with Daddy…

It seems our little principessa is quite the chatterbox lately!  Read below…

New words and signs are in bold green.

SPEAK:  brown bear, bird, ball, fish, woof, go, round, book, bye bye, hi, down, all done, purple, mama, dada, more, milk, cookie, tickle, again, apple, bus, open, up, stop, kick, yeah, watch, cat, shh, eye, boo, quack, bubble, pop, shirt, shoes, pants, touchdown, sock, box, two, row, hi

SIGN:  all done, ball, fish, book, sleep, bye bye, dada, sheep, music, hug, kiss, bird, bear, read, eat, more, milk, cookie, change, diaper, again, apple, up, Grammy, hungry, stop, shh, bubble, block, shoes, hi

Forget Picasso! A Budding Michelangel-ina!

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Lauren (our amazing DI) and Daddy had a surpisingly easy time with Josephine and finger painting today.

Because of her hypersensitivity issues, Josephine typically gags at the sight of anything she dislikes or doesn’t know.  It could be food, dolls, crayons or paint.

Taking a chance, Lauren broke out the finger paint and Josephine dove right in!  No hesitation at all.  But both Lauren and Daddy noticed Josephine drooling quite a bit and it seemed to get a bit worse as time went on.

Lauren found out from Kim (the OT goddess) that the drooling is a sensory defense and would soon be followed by gagging or vomiting.  Fortunately for Lauren and Daddy, the gag came soon after the drooling.

But what is so impressive is that Josephine not only dove right in; she tolerated the paint for more than a couple of minutes.

And made Mama the best rainbow ever!

Christmas Time is Here!

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Josephine had a great time visiting Santa at West Orange Town Hall.  And I have to say the Mayor Rob Parisi and Recreation Director Bill Kehoe were very kind.  They were more than happy to help carry Josephine in her stroller up the steps of Town Hall (no handicapped entrance in the front) – and even “snuck” us in to see Santa before all the other kids got in there!

Josephine watched the tree lighting ceremony, enjoyed a Christmas cookie and the fresh December air with Sheldon, Mom and Dad.