Happy Birthday, Keypad!

I'm a day late but, Happy Birthday little one! 

The past few months have been HUGE for Leyla!  At the beginning of March she started a new daycare and it has been such a great motivator for her to be in a room with lots of other kids her age that are talking and up and moving around. It's amazing the changes that we've seen in her in the past couple of months!

Leyla is now transitioning from sitting to her belly and then will roll from there.  She can bear weight on her legs for an extended period of time, she is starting to initiate the stepping movement with her legs and she is talking like crazy!  Just this past week she started mimiking mulitple word phrases..."I got you", "See ya later", "good morning", and some that probably aren't the best for her to mimick but, we'll take what we can get, "holy crap" and "dang it" are the two that she picked up last week!   Oops!  :)

It's amazing for me to think that a year ago our little peanut was hardly able to sit on her own for more than a few seconds, she was no where near bearing weight and the only word she had was "ba"!  She has come so far in just 365 days, I can hardly wait to see where this next year brigns her! 

Thank you to everyone that has been so supportive of Leyla and our family!  It means more than you'll ever know to have people in our lives that may not understand Leyla but that love her just the way she is! 

Joubert Syndrome Conference

If you're reading this, you probably know that we just returned from the 2011 JS Conference in Orlando, FL.  I know, who picked Orlando in July, right?!  It was HOT! 

We left the conference with a lot of mixed feelings.  The entire week brought a lot of ups and downs, things that were really exciting and things that were really disappointing.  The best part of the entire trip was hands down, meeting the other families that I've been able to connect with through the JS Parents page on Facebook!  These families are awesome!  Kimberly Stapleton and her girls Tilly and Fiona, Amanda & Casey St. Clarie-Rumore and their girls Ellah and Leyla, The Mack Family, Laura Buchannan and her brother Matt Smith, Brett & Angelina Elliott, The Weimer Family, the families that we met from here in Minnesota, I could go on and on...all of these people were so caring, so welcoming, and SO fun!  Thank you to all that we were able to connect with and spend time with!  It truly was an honor!  And I can't wait for Minneapolis 2013!

The conference started off with the "Medical Symposium", there were several doctors that attended and presented information regarding their specialty and the advancements and research that has been done in that particular area.  This portion of the conference was quite disappointing to me; it was very technical and hard to follow.  I guess I went in with the expectation that these doctors would present with the families as their audience and that they would want to get their hands on Leyla and talk to us about her, etc.  That wasn't the case at all.  There was no interest in seeing her MRI or ultrasound images, no intrest in even getting their hands on her.  So, that was a little frustrating to me.  On the second day, we were able to meet with the panel of doctors in a small group which would have been great had it been more than an hour long.  We were in the room with about 5 other families and each of us essentially got to ask one question, got a half an answer and an email address to follow up...so, again, that was disappointing.

As a whole, I would say that the conference was a good experience but, again the thing that made the trip worth it was the people!

The 2011 Chucker Open

What a success!   Thank you to everyone that came out to support Leyla and Joubert Syndrome!  I am overwhelmed by the generosity that surrounds us every day!  We met some really awesome people this weekend and were honored to have some local celebrities come out to kick off the event.

A HUGE Thank you to Chuck Rowan for making this even happen!  Your kindness and generosity are amazing! 

Enjoy some photos below...sorry, they're a little out of order!

Thank you, Viking Cheerleaders Peyton & Jenna!

Wally The Beer Man





Prader-Willi Test Results

I received a call on Monday afternoon from our geneticist; she was calling to let me know that Leyla's test for Prader-Willi Syndrome came back negative!  What a huge sigh of relief that is!  Not that Joubert is better to have than Prader-Willi; just in that we're finally getting comfortable with what Leyla's future could look like. And we're becoming more and more comfortable with our routine for her, learning what we need to do as parents to help her to develop and learn and grow to her potential.  The thought of essentially starting from scratch was so overwhelming!

That's all for now!

Enjoy the sunshine today!

Jenni

Gait Trainer Fitting Whoop Whoop!

Leyla was fitted for her gait trainer today!  The one she's in in the pictures is a "mini" and we're going to give the small one a try next week. We'll get to bring it home for a week and then we'll get Leyla's ordered up!  So exciting!  She did great in this one today!  Moved each foot a couple of times toward taking a step and did great showing some extension through her legs! 

Happy Mother's Day

Okay, I know I'm a day late but I just had to share these two posts that fellow JS moms put on Facebook yesterday.  They totally hit a nerve for me.  I hope you enjoy as I did.

For all the moms who had to wait longer (or are still waiting) to hear a first word, who spend more time in doctors offices with their child than on playdates, who endure countless bad days and the stares from other people.  For the moms whos child's first friend was their therapist.  For the moms who face special needs every day...Happy Mother's Day!  - Posted by Christy Dyck Krentz

Sometimes I forget that our days with Leyla are so much differnt than the average 21 month old.  I forget until we're around other kids how different she is, that she isn't combining words and counting like the other kids.  I forget that all of the other kids at her age are walking and running around, playing in the grass, etc.  This post was a good reminder to me that there are other parents out there that feel the same way when they hear someone say, "Put her down in the grass and let her crawl around," not knowing that she doesn't crawl and she has a fit when she touches grass!  It's awesome to know that we aren't alone so, thanks Christy for posting this one yesterday!

And the second post that I still...4 days later can't get out of my head is...

Having four visiting family members, my wife was very busy, so I offered to go to the store for her to get some needed items, which included light bulbs, paper towels, trash bags, detergent and Clorox, so off I went.

I scurried around the store, gathered up my goodies and headed for the checkout counter, only to be blocked in the narrow aisle by a young man who appeared to be about sixteen years old.  I wasn't in a hurry, so I patiently waited for the boy to realize that I was there.  This was when he waved his hands excitedly in the air  and declared in a loud voice, "Mommy, I'm over here."

It was obvious now, he was mentally challenged and also startled as he turned and saw me standing so close to him, waiting to squeeze by.  His eyes widened and surprise exploded on his face as I said, "Hey buddy, what's your name?"

"My name is Denny and I'm shopping with my mother." he responded proudly.

"Wow", I said, "that's a cool name; I wish my name was Denny, but my name is Steve."

"Steve, like Stevarino?" he asked, "Yes" I answered.  "How old are you Denny?"

"How old am I now, Mommy?" he asked his mother as she slowly came over from the next aisle.

"You're fifteen years old Denny; now be a good boy and let the man pass by."

I acknowledged her and continued to talk to Denny for several more minutes about summer, bicycles and school.  I watched his brown eyes dance with excitement, because he was the center of some one's attention.  He then abruptly turned and headed toward the toy section.

Denny's mom had a puzzled look on her face and thanked me for taking the time to talk with her son.  She told me that most people wouldn't even look at him, much less talk to him.

I told her it was my pleasure and then said something i have no idea where it came from, other than the prompting of the Holy Spirit.  I told her that there are plenty of red, yellow, and pink roses in God's Garden; however, "Blue Roses" are very rare and should be appreciated for their beauty and distinctiveness.  You see, Denny is a Blue Rose and if someone doesn't stop and smell that rose with their heart and touch that rose with their kindness, then they've missed a blessing from God.
She was silent for a second, then with a tear in her eye asked, "Who are you?"

Without thinking I said, "Oh, I'm probably just a dandelion, but i sure love living in God's garden."

She reached out and squeezed my hand and said, "God bless you!" andthen I had tears in my eyes.

May I suggest, the next time you see a "Blue Rose", don't turn your head and walk off.  Take the time to smile and say hello.  Why?  Because, by the grace of God, this mother or father could be you.  This could your child, grand child, niece or nephew. What a difference a moment can mean to that person or their family. - Posted by Kimberly Pearce Stapleton

I know that one was a little long but, well worth the extra minute it took to read!  Thanks so much to Kimberly for sharing this one with the other JS parents.  You wouldn't believe the responses that this post brought, tears all over the place and just some really deep emotion coming from parents of God's Blue Roses!  So beautiful!

Like I said before, I haven't been able to get this last post out of my head since I read it on Thursday!  I tear up every time I think about it again.  I totally used to be a person that would have just walked by and here I am now the momma of the most amazing little blue rose in the world!

Enjoy the rest of your day!

Jenni

TEAM LEYLA T-SHIRTS

Let me know if you want one!  The more we order, the cheaper they are!

Conference Anticipation, Geneticist, Birthday....

We have been waiting in anticipation for the Joubert Conference that is coming up in July, in Orlando!  We're so excited to meet other JS families, listen to some awesome doctors speak about JS, and let's face it, living in Minnesota we're pretty excited to see some palm trees!

We recently had our first appointment with a geneticist at the University of Minnesota.  Going into the appointment we didn't expect to really find out anything that we didn't already know.  We know that JS is a recessive genetic disorder, we know that Leyla's first round of genetic testing came back negative for all of the tested genes, we know that the chances are 1 in 4 that our next child would have JS and the severity can vary.  So, Eric and I both went in kind of expecting a quick in and out appointment and we were quite surprised with how it actually went.

The doctor came in to meet with us, the normal, asked us if we had any questions for her, how we're handling the diagnosis, etc.  Then she went and took a look at Leyla and asked us a couple of questions, how are her eating habits, what size shoes she wears, things like that.  When she was done with her exam she told us that she was going to go review Leyla's MRI images again.  After a few minutes she returned and explained to us that the Molar Tooth Sign in Leyla's brain scans wasn't prominent enough to convince her that she has JS and that she'd like to do some more testing for another syndrome, Prader-Willi Syndrome and she would also like to do a complete chromosome test just to kind of Leyla all of Leyla's DNA out and see if we're able to pick out anything out of the ordinary.

We haven't received the results from the Prader-Willi testing yet but, Eric and I have all kinds of mixed feelings about all of it.  Our first reactions were...Holy Crap, we are just getting used to the JS diagnosis, figuring out what works for Leyla, how to handle her quirks, how to help her develop, what her future could hold, and coming to terms with all that comes with Joubert Syndrome and now we're thrown this curve ball and would have to learn a whole new syndrome?!  We chose not to get all of the information available on Prader-Willi while we were at the geneticist, we just want to wait and see how the tests come back.  Obviously, I'm not PhD but, my gut feeling tells me that the tests will come back negative for PWS.  Sure, Leyla has small hands and feet, olive shaped eyes, and low muscle tone but, those things are all shared by other syndromes as well.  After really looking at the JS characteristics again and comparing to what we know about PWS and the things that Leyla has or does, we really feel like her diagnosis is accurate.  So, now we just wait and see how the tests come back!

On a whole other note...in 80 days my baby will be 2 years old!  Seriously, where does the time go?! 

Have a great day!  Let's hope all of these April showers bring some May flowers and SUNSHINE!

Jenni

An Inside Look at Leyla's Therapies

Leyla currently goes to Physical Therapy once a week and Speech Therapy twice a week at our local Gillette Children's Specialty Healthcare facility. This post is for all of the people that have said to me, "So, what do they actually do with her at therapy?"


When we arrive at Gillette at 7:30 am, Leyla sees Nancy for 30 minutes of Physical Therapy. 

Recently she's been starting out with some sit to stands!



Then she does some side sitting.

 We see this face quite a bit when doing side sitting!

 Next is hands and knees.

Another face we see pretty often while Leyla is playing with Nancy!

After Leyla plays with Nancy she moves to the Speech Room to see Laura!

Laura and Leyla try to find the animals in the book!

There's the baby!  Na Night baby!  Shhh!

Find the eyes on Mr. Potato Head!

And Barnyard Bingo!  This is my favorite photo...this is Laura looking at Leyla today saying, "Hellooo are you going to do anything today!"   : )  Kind of a rough day in speech for Leyla today. 

Our awesome team from Gillette!  Chrissy, Laura, and Nancy!  They are the best!  We absolutely love them all and are so thankful and feel so  blessed that we have each and every one of them working with Leyla!

Thanks Ladies!

Enjoy the day!

Jenni

Long Time, No Blog

Wow, it's been a long time since I actually blogged last! I apologize to those who have been anxiously waiting for updates on Leyla!


Leyla is doing great! She just turned 18 months old! Man, where does the time go? She is making major improvements and developing really well. The holidays were a blast with her, she loved seeing family and crumpled up wrapping paper was pretty exciting!

Better late than never with the Christmas card post, right?

Christmas Eve - 12/24/10

The un-smiley side of Leyla...enough pictures already mom! This one is especially for those of you that think Leyla is ALWAYS smiling!

Christmas Day - 12/25/10

Santa brought Leyla her very own comfy chair with her name on it...she loves sitting in it like a big girl!

This was really exciting for us!  Leyla started using knee immobilizers to help her get used to bearing weight through her knees and hips!  We've been working really hard on standing with and without the immobilizers! 

And finally, last week Leyla was part of a sales meeting for the National Sales Representatives for Otto Bock, an orthotics and prosthetics company.  Below are pictures of Leyla during the meeting...her first big break!

Leyla being assessed by Claire, the Occupational Therapist from Ireland.

Claire (the OT), Chrissy (in front, one of Leyla's Physical Therapists) and one of the sales representatives making sure that Leyla is securely strapped into this stander.

Not too sure...Chrissy is still making sure she's completely strapped in!

I think we're all set!

Here she is, all strapped in to the stander and working the crowd!  She did great, she tolerated it for about 15 minutes until the meeting was over and we had to go home! 

Hopefully, more 18 month photos to come in the next few days!  Leyla is growing so much and starting to really look like a toddler as we are now half way through he second year! 

Have a wonderful day!

Jenni