Tag Archives: tetrasomy 8p

Words Just Rollin’ Off the Tongue

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Josephine has added more words and signs to her vocabulary…every day amazes me.

New words, signs and directives 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

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

Directives:  Give Me, Turn Page, Give Kiss

Watch the video for a glimpse of her language development. You should be able to catch “up” and “down” in there somewhere.

She is perfect!  Enough said.

Stuffed with Spaghetti!

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Love.

That’s the only way to describe how I felt after Josephine’s benefit at The Knights of Columbus (www.kofc3533.org).

Generosity, kindness, love, joy and support filled the room to the gills.  Literally.

There were approximately 125 people in attendance.  Tables were added.  Standing room only.  45 POUNDS of pasta was served!  Just to give you an idea…the average pasta event serves 10-15 pounds.

I was so moved (and still am) to see so many people (friends and family – my parents surprised us and attended as well) attend on such short notice.  I was speechless and that’s saying a whole lot coming from me.

So, THANK YOU to Carmine Iacullo, the Grand Knight of The Knights of Columbus Council 3533!  Thank you to our family!  Thank you to our friends!  Thank you to everyone that has been supporting our little girl.

Your actions, prayers and thoughts mean more to us than you will ever understand.

Benefit for Josephine: All You Can Eat Spaghetti Dinner

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The local Knights of Columbus Chapter will be generously hosting a benefit for Josephine this Sunday, October 17, from 4:00-7:00 PM at the Council Hall (299 Eisenhower Pkwy, Livingston, NJ 07039).
Below is the posting from the Knights of Columbus web site.
The benefit is an All-You-Can-Eat Spaghetti Dinner and is $10 at the door.  There is also a cash bar available (soda and non-alcoholic drinks are included).
We will be there for most of the event.
Please feel free to email me if you have any questions.  My email is klract@aol.com.
Thanks for the support and we look forward to seeing you on Sunday, October 17!
Best,
Krysta Senek
Mom of Josephine Senek, 2 years old
(Tetrasomy 8p Mosaicism, ACC, Trichotillomania, Trichophagia)
www.normalforjosephine.com

Pasta Dinner – Sunday October 17, 2010

Our first Pasta Dinner for the 2010-2011 Columbian Year will be on Sunday October 17, 2010 beginning at 4pm at the council hall.  The proceeds of this dinner will go to benefit a 2 year-old girl named Josephine Senek.  Josephine is afflicted with a chromosome disorder called Tetrasomy 8p Mosaicism and is 1 of 20 in the world that is diagnosed with this condition.

The Senek family are parishioners of St. Raphael’s Church in Livingston and has called upon us for help.  I know that our council will do their best to support this event and the family.  If you would like to donate, please send a check payable to K of C 3533 and write “Josephine Senek” in the memo line.

Our Lady of the Mountains Council 3533
Knights of Columbus
299 Eisenhower Pkwy.
Livingston, NJ 07039

Not the 26 Leads I Was Looking For!

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Now as a Realtor, you can imagine how exciting it is when I get a lead for a listing or a buyer.

Unfortunately, this post is not about those leads.  This is about J-Bean and her tumultuous relationship with the 26 electrodes attached to her head for a 48 hour period!

NOT FUN!

Before Josephine was diagnosed with Tetrasomy 8p Mosaicism, when Josephine was about 9 months old, we went to the neurologist, Dr. Aviva Bojko, to determine the reason for Josephine’s developmental delays.  Dr. Bojko prescribed an ambulatory EEG and a brain MRI to see what was going on.  Let me tell you…the difference a year makes!

The first time around, applying the electrodes was awful.  Josephine screamed and screamed.  But afterwards, she was fine.  I don’t think she was aware of her surroundings and her body, so it was no big deal.

That is NOT the case at 2 years old!  This time she was wonderful when the leads were applied.  Afterwards, at home…screaming, crying, sleepless nights for the hubby (thanks, Sheldon) and lots of daily frustrations for me.

Thankfully, the EEG was removed this morning and we have our Principessa back.  Granted, she is tired and grumpy.  But I will take that over what happened during the last 2 days ANYTIME!

We will have her results on November 8!  Keep those fingers crossed!

Ma, Can I Use the Phone?

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OK.  So maybe that’s wishful thinking, but…

I am proud to say Josephine has started toward a new milestone with a vengeance – TALKING!

Yep.  You read it right.  Our little gal is saying words, signing words, communicating needs and making jokes (no joke!).  In fact, she’s got quite a little personality!

Granted, most of these words are hard to hear because the speech is just emerging, but each one is recognizable to the Josephine-trained ear.

Here’s a list of words, both signed and spoken, as of October 4, 2010:

SPEAK:  brown bear, bird, ball, fish, woof, book, bye bye, hi, down, all done, purple, mama, dada, more, milk, cookie, tickle, again, apple, bus

SIGN:  all done, ball, fish, book, sleep, bye  bye, dada, mama, sheep, music, hug, kiss, cat, bird, bear, read, eat, more, milk, cookie, change, diaper, again, apple

Keep an eye out for the speech updates.  I am certain I will be adding many more words soon enough.

New Love of Hair Pulling

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On our way to Ohio, we stopped at McDonalds (August 2010)

We are en route to Ohio–stopped at McDonalds and thought I’d write about Josephine’s latest love…hair pulling (only on the right side). It didn’t seem like an issue until the last week and a half when the hair on the left side of her head was noticeably thicker. I would offer her my hair, but (being mostly bald) she isn’t able to get a grip:)

She seems to do this mostly when she’s frustrated–and probably not able to truly communicate her emotions. So, whenever she does it, we try to acknowledge that she’s frustrated. Not sure if this is just a phase or if it will (hopefully not) develop into a lasting habit.

The Shortest Distance

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I need to start off this entry by saying how important it is to share this journey with everyone I know.  You never know what can happen when you are comfortable and open enough to talk about Tetrasomy 8p and Agenesis of the Corpus Callosum (ACC).

I had the most amazing time with my family this past weekend.  Yes, it was great seeing and spending time with family we don’t get to see often.

But the best part came after everyone left.

My cousin, Micah, and his wife, Jackie, are interpreters for the deaf.  I don’t even know how we got on the subject, but we quickly started talking about verbal processing, auditory processing and visual processing and specifically how the brain plays a part in each.

We have been struggling with how to get Josephine to communicate because every time she seems to get something, she loses it when it’s not practiced for some time.  I believe this is a result of the ACC.   I shared my thoughts with Micah and he agreed.

Apparently, the part of the brain that processes the verbal aspect is in a different location from the part that processes the auditory and visual aspects.  Because Josephine is missing that connection between the right and left brain, the verbal process takes much longer to communicate with the other two processes.  However, the auditory area and the visual area are on the same side of the brain, which allows the communication to happen faster.

This is important to understand because it made me realize how vital sign language is to Josephine.

When Jackie was playing and signing with Josephine, Josephine’s face lit up and she was very attentive.  When Jackie stopped signing and playing, Josephine looked her in the eye and signed “more”.  No prompting.  Josephine knew what to do and how to get what she wanted.

I have now submerged myself in sign language.  I even have an app on my phone that I can turn to if I need a sign I can’t remember.  And it has already come in handy.

Since we have started to use sign language regularly, I notice more peace in Josephine.  Seriously.  It’s like she’s soaking it all in and getting it.  Getting it in pieces, but getting it.

We are also implementing pictures of familiar items.  We are signing the word, showing the picture and saying the word verbally.  Again, Josephine is starting to identify things more and more.

Sometimes it all gets a bit tedious.  Sometimes I just want to sit and cry or sit and fume or sit and sit.

But I quickly realize it is worth all this work right now.  To be able to give the world to my daughter.  A little extra work for such a big reward is worth every tear I want to cry or every swear word I want to shout or every silent moment I want to steal.

Just looking at my little girl…I know it’s worth it.

Wheels on the Bus

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Wheels on the Bus by Josephine (CLICK TO WATCH VIDEO)

What can I say?  This video says it all for me…

While talking with Carrie (the Speech Pathologist), Josephine started to make the motion for The Wheels on the Bus Go Round and Round.  This is NEW.  Between the therapists and Stepping Stones, we have been singing the song to her, but Josephine has never done any of the movements, until this morning.

We think she heard Carrie and I talking about objects and songs that motivate her and Carrie mentioned the song title.  That’s it.  Then, about 30 minutes later, she makes the motion.

Just when I start to wonder when she will move to the next level, Josephine pulls another gift out for me to gush about!

A Pivotal Move

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Josephine surprised us all on Easter Sunday with a present better than Cadbury Cream Eggs and stale Peeps…

Josephine has figured out how to pivot on her bottom using her right arm, legs and abdominal muscles!  In fact, she can move in a complete 360 degree circle.  Just give her the right motivation and watch her go.

For now, it’s just turning toward the right.  Eventually, we will work on the left and getting that side stronger.

The exciting parts of this new milestone are 1) She is using her balance to stay up while pivoting; 2) She is strong enough to move with her arm; 3) She has great abs to keep her balance and 4) She has the cognitive ability to recognize if she needs to see something, she needs to turn to see it.

Could scooting be in her future???