Woah...It's been 8 months, Really?

I can't believe it's been 8 months since I posted last!  Leyla has come a long way in the past few months! 

In September, we had the opportunity to visit the National Institute of Health for a research study that they are doing on Joubert Syndrome.  We were there for a week and met with several doctors that each did testing on Leyla and at the end of the week we were given all of the results as a baseline for future testing.  It was a long week, but we were thankful to have had the opportunity to be involved in the study. 

All of Leyla's testing came back relatively normal, she is short and chubby for her age (welcome to my life! :)) and she has some abnormalities on the surface of her liver but, other than that she looks great!


Leyla was a champ during all of the testing!  This was the Echocardiogram to check out her heart.

Looking for veins.

No tears!  These guys did such a great job!  One poke and 12 viles of blood!

EEG, looking at Leyla's brain activity.

Sweet hat!

Dinner before the sleep study.

High Five for the sleep study guy!

ALL DONE!  So happy the sleep study was over!


At two years and 3 months old, Leyla had her first hair cut!!

Leyla also got to announce that she's going to be a big sister in the fall!

Physically and verbally, Leyla has made huge strides in the past few months!  She is now crawling!  Whoop whoop!!  The day this happened was a little bitter sweet for us!  We now know what it's like to have a mobile toddler that gets into everything!  We can no longer set her somewhere and know she's still going to be in that spot when we come back.  At the same time; we are SO excited for her to have the independence that she does with being able to move around on her own now!  Just recently Leyla started to crawl up stairs and attempt to get to a standing position (we've got a long way to go on that one!). 

Leyla is now talking like crazy!  Sometimes, I have to remind myself that we've waited a long time for her to be able to communicate verbally with us and that I shouldn't ever stop her!  She is now using 2-4 words together, beginning to form sentences, singing songs, asking questions and just babbling all the time! 

Well, that's about it for right now!  I will try to update more frequently!

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