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.