Mackenzie is 4!! ~ Disney, celebrating a birthday, Race for R.A.R.E, dancing, and so much more! :)

I intended to have this post written soon after Mackenzie turned 4 but 4 months have gone by and I'm now getting around to it. Needless to say, Mack has kept me busy!

I'll start it off by sharing a video my sister made for Mackenzie. Mack definitely is "a little girl with great big plans".

Let's see if I can 'briefly' update you on the past 'few' months. We started January with going to Disney! Our good friends Kurt and Rebecca graciously offered for us to tag along with them and their daughter. Pretty certain we will have another Disney trip in our future. It was a good break for all of us and Mack still talks about it often! Definitely will be one of our favorite family vacations!!

Mack's most exciting moment happened the first night when she got to meet Rapunzel!

Stitch was definitely a favorite of Mack's & BJ's!

Mackenzie was very thrilled to get a kiss from Jake!

We had breakfast with the princesses!

And of course Mack had the best time with her good friend Olivia!

Mackenzie celebrated her 4th birthday in March- not sure where the time has gone! She had a birthday party with all of her friends before her actual birthday which was tons of fun for everyone involved! And then we celebrated her actual birthday (which is also my birthday:)) at Chuck e Cheese with just the 3 of us. Mackenzie is very proud at the fact that she's now 4. She smiles very big when someone asks how old she is and will hold up her 4 fingers.

 

In the middle of March we took Mackenzie skating for the first time. She got the hang of it in no time!:) 

Near the end of March, Mackenzie and I went on a weekend trip with our friend Erica to participate in the Race for R.A.R.E. Race for R.A.R.E spreads awareness for all rare diseases but specifically raises awareness for Joubert Syndrome. Even though I was a tad out of shape, I completed the 5k and crossed the finish line hearing Mack yell "Go, Mommy go!" and then she gave me a big hug and told me "Good job, Mommy!".

Mackenzie enjoyed dressing up on Easter Sunday in April.

Mackenzie finished another year of preschool in May. She had a very fun year and is already looking forward to school starting beginning of September!

Mackenzie's 4 year old preschool pictures

Mack performed in her first dance recital near the end of May. We switched dance studios midway through the semester due to some conflicts, and I was nervous at how Mack would do in a new class with a new teacher. But of course she pushed aside my worries and did wonderful! Her teacher (who she will have again the fall) is one of Mack's favorite people! She is very patient and keeps an eye on Mack all while letting Mack do things fully on her own. I cannot wait (and neither can Mack!) for dance to start again in September.

Right before the dance recital

The following video is one of my favorites. Mackenzie had a difficult time when we first showed up for the dance recital. She had a few meltdowns and did not want to let go of her daddy. After a little encouragement from her teacher, she finally agreed to go with her friends and wait to perform. I was extremely nervous that once Mack got on stage, she would notice BJ and start crying for him. But instead, Mack noticed BJ, smiled so big, waved, gave a thumb's up, and signed 'I love you'. And I am so thankful that our friend got it all on video! I tried my hardest to hold back the tears, but I was pretty unsuccessful!

Mackenzie was definitely ready for the warmer weather!! At the end of May, she mastered the slip n slide!

We also introduced her to mini golf. She enjoyed hitting the ball once or twice and then eventually would pick up the ball, roll it, chase it, and eventually throw it into the hole.:)

Mackenzie attended a week long 'princess dance camp' at her dance studio in June. She LOVED it! It was a lot of fun watching how much she had grown in just a few weeks since she ended her regular dance class.

 

 

As you can tell Mackenzie has had a very eventful 4th year so far! We are already so proud of all she has done since turning 4 and look forward to seeing what more she accomplishes. We have had our ups and downs when it comes to every day challenges Mackenzie faces (that I hope to write about eventually), but amidst the challenges, we are so thankful to have such a cute, loving, funny, determined, silly 4 year old in our home!

Goodbye 2013....Hello 2014!

Mackenzie started 3 year old preschool in September. She goes 2 days a week from 9-12 at a local church preschool she started last January 2013. She began this fall with an aide, but after a month we gave a trial run to see how she would do without an aide. She did totally fine so she now attends school on her own! Since Mackenzie is 3 years old she has the possibility of receiving services through the public school. I started the assessment process this past month. I've held off until now due to Mackenzie doing so well with outpatient therapy and in the private preschool. We may continue with where we are but it will be nice to see what the school system has to offer. Mackenzie's 2 preschool teachers state that she's doing so well and is very social (which was one of my main concerns with Mack mainly due to her speech delay/being hard to understand). So for now, we are keeping Mack where she is since we've seen so much progress!

Mackenzie had a handful of doctor's appointments from August until November. She had her yearly bloodwork and ultrasound on her abdomen (all came back fine!) and check-ups with the neuro-opthalmologist and developmental pediatrician. Mackenzie was great during it all! She didn't shed a tear and did all that the doctors asked her to do. She even stayed still while getting her eyes dilated (the man dilating her eyes was very impressed by this- so was I!). Mackenzie appears to be very interested during the appointments. Maybe she will be a future nurse, doctor, researcher for JS?!

In October Mackenzie mastered going up steps on her own!

Mack enjoyed Thanksgiving and Christmas. We spent some time at the beach (which Mack loves!), and of course Mack enjoyed opening up all of her gifts on Christmas!

2013 was a great year that our family will always remember. We met so many JS families at the Race for Rare in February and at the JS conference in July. Mackenzie has grown so much in several areas. At the beginning of the year Mackenzie was walking but still have difficulty especially outside. Now she is running all over the place. I took the following video while we were at the beach a couple of weeks ago. I'm amazed at the progress she's made since a year ago when we were at the beach!

Mackenzie is talking more and more each day (she never stops!:)). She works very hard at the 'homework' the speech therapist gives her to work on certain sounds she has difficulty saying. She did the following video for family and friends for Christmas wishing everyone a Merry Christmas and Happy New Year.

2014 will be another fun year for Mackenzie. We have a big vacation planned that we know Mack will thoroughly enjoy. We took a break from swim lessons but plan to start again in the next month. Mackenzie started ballet this past week. She LOVES it! She's in a class with 4 other girls and did so well her first time. I can't wait to see how she excels in yet another area!

A good friend recently shared the following quote on FaceBook and I can't help but read it often:

“Motherhood is about raising and celebrating the child you have, not the child you thought you would have. It's about understanding that he is exactly the person he is supposed to be. And that, if you're lucky, he just might be the teacher who turns you into the person you are supposed to be.”  - The Water Giver

BJ and I look forward to what 2014 holds for our family. BJ and I would both be lying if we said we haven't questioned sometimes why things are the way they are, however, it seems like recently we have both stepped back and realized that Mackenzie truly is who she is supposed to be. And our family is the way it is supposed to be. God has truly blessed us not just this past year but also the past 3 (almost 4 years) that Mackenzie has been part of our family.

I will end by posting what has become my favorite "Mack" video- Mackenzie singing and dancing along to "What Does the Fox Say?"

Happy 2014 to you! Thank you for your continuous love and support!

Summer happenings

It always takes me a little while to get my thoughts straight before writing a post. So much goes on and it's hard to pick the "important" parts on what to share. Plus, I put off writing posts so then I end up having to talk about several different things all at once! Maybe one day I will get better at doing a blog (but most likely not!:))

So where to start....

A couple of months ago we started with a new speech therapist. She has been GREAT! She gives plenty of homework for me to do with Mackenzie and always comes with so much input. Her first time meeting Mackenzie, she mentioned that it seemed Mackenzie had speech dysarthria. From what I understand, this has to do with the muscles used to talk. Mackenzie knows exactly what she wants to say but has a hard time getting it out and is hard to understand at times (which can frustrate both me and Mackenzie). We have many exercises we do on a daily basis to help build muscle strength such as use a recorder and harmonica, blow bubbles, sing songs, etc. Mackenzie is starting to talk more and more and will shock us daily with saying a word or phrase she wasn't previously saying.
 
When Mackenzie was diagnosed with Joubert Syndrome (end of April), Dr. Goodkin, the neurologist who diagnosed her with JS, stated that he was not familiar with JS but said that a colleague (a neuro-developmental pediatrician also at UVA) could possibly be more help and hopefully see Mackenzie on a yearly basis. We had the appointment early August with Dr. Norwood. I have to admit that I didn't expect much out of this appointment. Since the diagnosis, we have done a lot of research, gone to the NIH, and increased therapies. I figured this doctor would look at us and tell us that he can't give us any more input/help. I was proven wrong! The appointment exceeded my expectations.

The outcome of the appointment:
Dr. Norwood has seen 3 other individuals in the past with JS. I only know of 1 other family (at the moment) who has a child with JS in Virginia so this is a huge thing! (Just to give a little fact about JS--there are only 900 diagnosed people worldwide with Joubert Syndrome so finding a doctor who is the slightest familiar with it is wonderful!) It was a pretty brief appointment (compared to others we've had) but it covered so many different aspects. He heard Mackenzie say a few things and immediately mentioned that Mackenzie has a speech delay most likely from dysarthria--exactly what we had been told by the speech therapist a few weeks before that (so nice to hear 2 different professionals say the same thing!). He did the typical intelligence/cognitive testing and stated that he was excited to see Mackenzie so up to par in this area. He moved her arms and legs around and noted how flexible she was. Mackenzie shocks me with the way she can move her arms and legs. For the first time, we had a doctor tell us that Mackenzie had hyptonia (low muscle tone). He also mentioned ataxia due to her unsteadiness. He had Mackenzie walk down the hall and noted how she has a wider gait and locks her knees to help her from losing balance.
This next part was new information to us and yet another diagnosis for Mackenzie. Dr. Norwood said that he was going to write in the report that Mackenzie has mild cerebral palsy. I'm not sure if this is common for individuals with JS to have a CP diagnosis as well. But this is how he wrote it in the report: "Mackenzie meets criteria for a diagnosis of cerebral palsy which is a result of Joubert Syndrome". Cerebral palsy is a very broad diagnosis and covers a large range of individuals. The way Dr. Norwood explained it was that it's secondary to the Joubert Syndrome and a cause of Joubert.
He touched based on Mackenzie's behaviors stating that "patients with Joubert Syndrome have a high incidence of behavior problems but that it can be mitigated with consistent parenting". We brought to his attention some recent concerns we have with Mackenzie. We have witnessed some major meltdowns on Mackenzie's part (and no they aren't due to her being a "typical" 2 year old- I know the difference because we have our share of those!). From my perspective it seems like Mackenzie becomes overstimulated if too much is going on. The overstimulation also causes her to become off-balance which leads to more frustration and then causes a huge meltdown. It's almost like her brain is just overloaded. It's a hard situation. We don't want to overprotect her and not put her in certain situations but we don't want to put her in a situation where it causes her to have a meltdown out of her control. (As a side note- I hope to touch more on the behavior/frustrations in another post). Dr. Norwood had a brief chat with us on how we need to treat/discipline Mackenzie like a "typical" 2 year old but with the understanding that she does have a neurological condition. He asked how we handle the meltdowns in which I replied that we try to take her into another room that is empty or take her outside away from everyone/all the activity. We have had to leave a family gathering due to Mackenzie being extremely miserable and non-stop screaming. He said that he would recommend us continue with what we are doing. He stated that we are handling things "nicely".
He also said that we need to definitely continue with therapies but that we also need to keep Mackenzie involved in other activities. We know that Mackenzie may not have an opportunity to do certain activities due to her mobility so he recommended swimming and horseback riding which is already on the schedule for us. Since Mackenzie will transition from Early Intervention to the school system when she turns 3, he said to make sure she receives all the support/aids she needs but to make sure she is around all the other kids doing what they are doing and in the same classes as her peers--meaning, don't let anyone underestimate what she is able to cognitively do and make sure she is capable of reaching her full potential.

My perspective of Dr. Norwood: he ended our appointment giving us his card with contact info stating to call/email whenever we have questions and said he wants to follow Mackenzie yearly. Lastly, he stated that Mackenzie is a beautiful child and we are doing a beautiful job with her. We finally found a doctor who knows about Joubert Syndrome, respects my thoughts, understands how wonderful my child is doing but also sees that she needs assistance in areas to help her reach her full potential, and is willing to answer any questions we have at any time. HUGE blessing!

So what did we do after the appointment? We treated Mackenzie to her favorite meal at Chick Fil-A. She played in the play area afterward where she climbed to the top for the first time all by herself- very exciting!

And of course we had to treat her to ice cream.

As for the rest of the summer.....

BJ built Mackenzie a play area. She LOVES it! And so do I! We have spent so much time in the play area this summer.

We went to an amusement park where Mackenzie was VERY proud to ride on rides all by herself!

Mackenzie continues to swim (I'm pretty sure she already swims better than I do!). We have also been able to enjoy time at the beach.

Mackenzie continues to be the cutest and funniest child I know!

Mackenzie refers to herself as "supergirl!". She has plenty of superhero shirts (thanks to her daddy:)) and even has her own mask and cape.

And lastly, we decided to add another member to our family. It took a little bit of time to talk BJ into it, but we now have a 3rd pet. A little female kitty named Wubbzy (named by Mackenzie:))

Wubbzy has already helped Mackenzie with walking by allowing Mack to chase her all around the house.:)

Can't help but smile at Mackenzie saying, "no kitty stop!". I LOVE hearing Mackenzie talk!!

Thanks again for all of the love and support you give Mackenzie (and us)! I will end by sharing a FaceBook status of mine from a month ago. I love how BJ and I are so excited over the little things.:)

"You all may think I'm crazy to be so excited and proud of Mack for the following...I brought a diaper into the living room to change Mack but before changing her I walked down the hallway quickly and came back to see Mack standing in the kitchen with a huge smile pointing to the trashcan and she said, "mommy, diaper, trash". She walked to the kitchen and threw her diaper away all on her own plus she used 3 words together which is a HUGE accomplishment for her!"