Family Vacation!!

The 3 of us recently went on a much needed family vacation to the beach for 10 days. It was GREAT! We stayed off the internet (yes- I refrained from using FaceBook for that long:)) and just relaxed. This was the first actual vacation since we've started therapies and received the new diagnosis of Joubert Syndrome. It was so nice not having to check the calendar daily and getting a "break" from therapies/appointments!

I have to start with posting the best video from our vacation. Our goal was to try to get Mackenzie to walk on the beach by herself. The waves, texture of the sand, the wind blowing, and the wide open area threw Mackenzie's balance WAY off. She wasn't even able to stand on her own. She enjoyed walking on the beach but had to hold onto our hands to do so- until the 10th and last day of our vacation. She spotted some seagulls, let go of BJ's hand, and took off on her own! :)

Here are a "few" pictures from our vacation:

Not at a bad view to wake up to every morning!

First morning looking out at the beach!

Racing Daddy down the slide

We asked Mackenzie if she wanted to ride in the "Skywheel" and she smiled and nodded. She is obviously not afraid of heights!

Mackenzie "flying"

View from the top

Family picture!

It took Mackenzie a while to warm up to the ocean but once she did, she loved it!

I wasn't too fond being this close to an alligator!

Looking for more alligators

She LOVED the pool and lazy river!

Swimming is exhausting!

Little surfer girl

Riding the waves!

She only wanted Daddy to take her into the ocean

Laying out in the sun with Mommy!

Mackenzie's "2 1/2 year old" photo shoot

Love her!

Mack loves her daddy!

I put the camera on my purse and set the timer. Didn't turn out too bad!:)

Walking by herself on the last day.:)

I'm quite certain we will make it a point to have a family getaway at least once a year.:) 

And she's off!

I have been looking forward to doing this post for quite some time!!

4th of July was a great day for us! We spent the day just hanging around the house. Mackenzie swam in her pool outside, BJ grilled out, and we set off fireworks in the evening. Mackenzie was taking a few steps here and there (like previous videos have shown) and before naptime I asked her if she wanted to walk back to her bed by herself. She did just that and then crawled back down the hall and stood up and did it again!:) Of course I caught it all on video.:)

That was just the beginning! Previously it seemed like Mackenzie needed an ending point when walking such as walking to the couch or ottoman. And she always needed prompting to walk. But after she walked to her bed by herself, she realized she could walk pretty much anywhere! In the past week she has crawled less and less and walked more and more from standing up and walking to BJ when he gets home from work, to continuing to walk to her bed, walking into the kitchen to eat, etc.

I decided to give her a "surprise" for her hard work (Target dollar bin is great!). So last night we gave her the bag of surprises which she loved.

Here is video of her walking all over the place last night!

Today was even more exciting! Mackenzie did not crawl AT ALL! She was determined to remain on her feet. She had many stumbles and falls but she got back up and kept walking. And to top it all off, Mackenzie walked on her own outside! We have been trying quite hard (especially in the past week) to get Mackenzie to let go of our hands and walk on her own outside but she refused. The large area and the feeling of grass when falling didn't seem too appealing to her. But with the help of 2 balloons from Chick Fil-A, she walked on her own. I asked her if she wanted me to tie the balloons to her so she could let them fly in the air while she walked and she nodded- Off she went!

This past week has been the best week for us! We have seen Mackenzie grow tremendously in such a short period of time. I have to admit that it still takes me by surprise when I see her stand up and just take off. And I think it takes her by surprise too. She constantly has a smile on her face when she's walking around (and so do we!).

It hasn't been all easy. She has had many stumbles and falls especially into the walls but she is learning how to catch herself and uses the wall to help keep her up. I know we have a long road of bumps and bruises ahead of us! But we don't mind. BJ and I are thrilled to see her walking so much (and my arms and back are thrilled to get some relief!:)) and she is loving her independence!

Here are more pictures from the 4th of July and some action shots of her walking.:)

Prayers are greatly appreciated as we go to the National Institute of Health very soon for a 4 day study. We already have our schedule which consists of seeing several doctors/numerous testing and most likely not much fun for Mackenzie. But we look forward to the answers we will receive from it. I will be sure to update as soon as I get a chance!

Lastly- Mackenzie says THANKS for all of the support she receives from everyone!

Just another update

Mackenzie seems to do something every day that makes me laugh quite hard- such as the above picture. She LOVES swimming and every time she sees one of her floats, she has to grab it and put it on. So that's what she did this particular morning while she was watching Curious George. The Thomas the Train boy pajamas add an extra touch to the picture.:)

Just like usual, a lot has happened since my last post. BJ and I have spent a lot of time researching Joubert Syndrome and I have connected with some great families who are able to relate plus give good advice and input. Mackenzie (and all of her appointments/therapies) keep me quite busy. So I will try to be brief ("try" is the key word!) yet informative on our life since the last post.

Mackenzie had an appointment with the neuro-developmental pediatrician in the middle of May. The last time Mackenzie saw this doctor was last fall and this was supposed to be a quick follow-up however due to the new diagnosis it lasted nearly 2 hours. The doctor was quite positive and helpful. She stated that she feels we are doing all we can do help Mackenzie but also understands our concern that Mackenzie is still behind in many areas. The doctor feels that Mackenzie is making great progress but also sees so much more potential (which I very much agree with!). The doctor recommended that all therapies be increased to weekly. It took a little bit work but Mackenzie's therapies have been increased. She now receives occupational therapy once a week, physical therapy (in the home) twice a month, physical therapy (outpatient) twice a month, and speech every other week. I would love for Mackenzie to have speech weekly however the speech therapist is already overbooked and, right now, can only do it every other week. Mackenzie continues to see a vision specialist once a month.

We received the results back from the Geneticist for the CGH Array. No abnormalities were found which was expected with the recent diagnosis of Joubert. But it was still nice to have a test come back "normal".:)

Mackenzie had an ultrasound on her kidneys and liver on June 5th. One of the major concerns I have with Mackenzie having Joubert Syndrome is the part that kidney and/or liver complications can occur. Mackenzie will have annual ultrasounds and bloodwork done to make sure everything is "ok". Mackenzie did VERY well during the ultrasound. The ultrasound technicians were great and brought a portable DVD player with Blue Clues for Mackenzie to watch. Mackenzie laid on the table for 30ish min and moved when they asked her to. She briefly cried but remained calm the entire time (with the obvious face showing that she was scared/nervous). We ended up treating her to ice cream where she sat in a "big girl" chair all on her own. I love seeing her so proud of herself!

It took a week to get the results back but we finally got the word that everything looked fine. We were VERY relieved!

On top of the therapies and appointments Mackenzie goes to a weekly music/gym class at a children's gym called Romp N Roll (which she LOVES). Mackenzie attended camp at Romp N Roll last week (Monday and Wednesday for 3 hours each day) with other 2-5 year olds. I was a tad hesitant to leave Mackenzie (I knew she would have great people watching over her but didn't know how she would do) but was told that she did wonderful and it was quite obvious that Mackenzie had a great time. Mackenzie also started swim lessons (by recommendation of one of Mackenzie's therapists). We joined a pool so we get plenty of water time in each week. Mackenzie has become quite the swimmer! It took her a very short time before she realized (with the help of a float) that she could move around all on her own which she LOVES the independence. The swimming has helped her tremendously.

We also had a good friend loan us a walker about a month ago. Mackenzie has had her ups and downs with the walker. She does so well when she uses it but she will sometimes totally refuse to use it and will prefer to hold onto our hands to walk. We recently decorated it with stickers and zip-tied Cookie Monster to the back which motivated her since we told her Cookie Monster wanted a "ride".:)

Mackenzie's balance is definitely hindering her from walking on her own so the walker helps quite a bit with her unsteadiness. We noticed that Mackenzie tires quite easily after she uses the walker for a period of time or when we walk around with her while holding her hand. I know it may still be a while before she is confident enough to walk more on her own but am proud to see her making progress.

Not sure how "brief" the above was but hopefully the ending of the post will remain somewhat brief.:)

BJ and I have both had are ups and downs. No parent wants to see their child go through any difficulties, especially ones that can't be helped or changed. We have faced more than I imagined we would be facing as a parents. Mackenzie shows many frustrations. She is fully aware of what others her age are doing. And she is fully aware that she is not able to do certain things. It's hard going to large gatherings and watching children Mackenzie's age (and even younger ones) running around, chasing each other, etc. Mackenzie is a very social girl and I often worry if she will be left behind by other children because she can't keep up since I already see it happening now. She is getting to the age (or has already passed) where she does not want mommy or daddy to have to hold her hand and take her everywhere. She definitely wants her independence. But she can't keep up with the other children unless we are there to help (which can often times create many frustrations on Mackenzie's part). We also notice that Mackenzie doesn't always handle large crowds quite well either. My opinion is that due to her Ocular Motor Apraxia, so much commotion makes it hard for her to focus and also makes her head thrusts go a mile a minute which throws her balance off even more. BJ and I are learning how to best handle these situations for Mackenzie.

With all that being said- all of this is who Mackenzie is. Our crazy hectic life that consists of appointments, therapies, etc is our life. It's becoming "normal" to us. Things may be rough at times but it's what we have been blessed with and I can't help but be thankful for it all. Mackenzie is the sweetest, most determined, funniest, loving, (the list goes on!) little girl that I have ever met. She makes everyone smile. Most children have a handful of milestones that are celebrated but with Mackenzie, we have 100 times as many milestones and we celebrate every little thing. At the end of each day I can't help but feel blessed to have the best daughter!

I posted this story at the end of my last post but didn't have the full version or the author. A friend sent me this version and I love it. I printed it off and read it quite often.

WELCOME TO HOLLAND

by
Emily Perl Kingsley

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this......
When you're going to have a baby, it's like planning a fabulous vacation trip - to Italy. You buy a bunch of guide books and make your wonderful plans. The Coliseum. The Michelangelo David. The gondolas in Venice. You may learn some handy phrases in Italian. It's all very exciting.
After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, "Welcome to Holland."
"Holland?!?" you say. "What do you mean Holland?? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."
But there's been a change in the flight plan. They've landed in Holland and there you must stay.
The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.
So you must go out and buy new guide books. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.
It's just a different place. It's slower-paced than Italy, less flashy than Italy. But after you've been there for a while and you catch your breath, you look around.... and you begin to notice that Holland has windmills....and Holland has tulips. Holland even has Rembrandts.
But everyone you know is busy coming and going from Italy... and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say "Yes, that's where I was supposed to go. That's what I had planned."
And the pain of that will never, ever, ever, ever go away... because the loss of that dream is a very very significant loss.
But... if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, the very lovely things ... about Holland.

Mixed emotions: Excited about the recent milestone and nervous about the week ahead (MRI and Genetic testing)

It's a MUST that I start this post off with the best videos of Mack EVER!

This video was taken on April 19. I started "tricking" Mackenzie into standing by holding the baby out, telling her to hold onto the baby's hands and stand up, and then I would slowly let go of the baby without Mackenzie realizing she was standing on her own.:) After a lot of repetition, she ended up standing on her own with the baby! It's quite obvious how frustrated Mackenzie gets when she falls at the end of this video. It's sad but it also shows her determination to learn how to master standing/walking.

And then, just 2 days later, Mackenzie stands up and WALKS!! Not taking just 1 or 2 steps but several steps! Words cannot explain how proud I felt and still feel each time I watch this.

I did not get the next part on video which is probably a good thing. Mackenzie turns around, stands up, and takes off probably taking at least 10-15 steps and runs right into the bin of toys. The result was a nice bruise/scrape near her eye and mouth. However, after a little bit of crying, she did get up and take some more steps. Plus, the bruise made her look tough!:)

Mackenzie watches the video of her walking and smiles and claps. If I ask her who is walking she will raise her hand and say "meeeeee!". Of course I took a video of that as well.:)

In the past week Mackenzie has stood up and taken one or two steps but nothing like she did in the video. She is very hesitant. My take on it is that she is being quite cautious because she knows the type of falls she has when she is standing up (even when she is leaning or cruising along side of the couch, etc). There are times where she will stand up for a few seconds and fall and then clap for herself and try it again. There are other times when she becomes quite frustrated when she falls and starts crying. I also wonder if Mackenzie  becomes dizzy when she stands up. It is obvious that the OMA is causing difficulties with balance and others who have OMA or have older children with OMA state that there can be "dizzy spells". Mackenzie also gets off balance with her head thrusts so if she is standing while having head thrusts, I know it most likely will cause her to fall. But with all that being said, Mackenzie continues to make progress and she is standing on her feet so much whether it be on her own, when she is playing with her train table, or her favorite:)- when she is holding onto our hands and walking. She is doing very well holding onto just 1 hand and most of the time refuses to hold onto both of my hands.:)

Now onto what the next week holds for us.....

Mackenzie saw the neurologist on April 18th. Appointment went well. The neurologist stated what all of the other doctors and therapists have stated- that Mackenzie is making progress. He recommended going ahead with the genetic testing (CGH Microarray that I mentioned in the previous post). Mackenzie has an appointment this upcoming Wednesday with the geneticist. Since we just saw the geneticist last month, the appointment will consist of her giving blood (not fun for a 2 year old to have to have a large tube of blood taken!). He also recommended an MRI to be done on her brain which is scheduled for this upcoming Friday (May 4th). Mackenzie had an MRI last June when she was 15 months old. The results came back fine (from what they could tell since it can be hard reading a baby's MRI since the brain if far from being fully developed) but I am curious to see if there is any underdevelopment. Mackenzie will have to be given a general anesthesia due to being so young. Of course this makes me nervous however I do feel that we should do the MRI due to all that is going on with Mackenzie. I realize that if underdevelopment is found on the brain (most likely it would be near the cerebellum) that there isn't any "treatment" that can be done however it would give us more of an answer as to what's going on and rule out most of the more serious disorders/disabilities. The MRI may come back fine and we will be back to where we are now. The neurologist told me that sometimes no answers are better than getting answers. I do agree with that. I am ok with not ever knowing what is going on with Mackenzie as long as it means that she is healthy. However, I do have concerns as a parent with her development and the symptoms she has and I fully support the doctor's recommendation to do another MRI.

Please remember Mackenzie (along with me and BJ) in your prayers in the week ahead. I will update when we get the results back. I am pretty certain we are going to treat Mackenzie to something quite special next weekend due to putting her through so much this upcoming week plus we still owe her a huge reward for walking.:)

I will end by posting a picture of Mackenzie on Easter Sunday.:)