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!"

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.

Joubert Syndrome

This past week and half has been very much a roller coaster of a ride. Last Monday (April 30th) I had the intention for me and Mackenzie to lay around in our pajamas for most of the day and enjoy a day of nothing. We don't get many days like this between therapies and appointments so we definitely take advantage of them when they come.:) But soon after 8 am I received a call from Dr. Goodkin, the neurologist we saw a couple of weeks ago, stating that he wanted to see us as soon as possible.

Mackenzie had an MRI of her brain at 15 months (last June). The report came back fine, or so we thought. I always questioned the short report we received in paper on the MRI. It mentioned some underdevelopment but then stated it was most likely due to the maturity of Mackenzie's brain since she was only 15 months old. I brought this up to doctors we saw over the past year but no one ever saw a concern until I brought it up to Dr. Goodkin. He ordered another MRI to be done of Mackenzie's brain (which was supposed to be last Friday) but then after our appointment a couple of weeks ago, Dr. Goodkin had the radiologist he works with read the first MRI and found that it was misread. We are extremely thankful for the steps Dr. Goodkin took. He continued looking into Mackenzie after we left the appointment and because of that, we did not have to put Mackenzie through another MRI (at least for now).

Back to Dr. Goodkin's phone call- He stated that he wanted to see us that morning. I didn't ask any questions since I knew I would have the chance to that once we saw him and remember him stating that this won't change how we're doing things overall, but will give us more clarity as to what's going on with Mackenzie. We shortly headed out for the hour plus drive to talk with Dr. Goodkin in what I'm assuming was his lunch break. It was a very long hour with many things going through my brain. Dr. Goodkin got straight to the point when we saw him. He showed us a picture from Mackenzie's previous MRI and right away I knew what it meant. The picture looked quite similar to this picture which is referred to as the "molar tooth sign". This sign is an obvious sign for Joubert Syndrome. Dr. Goodkin questioned how I knew about this and I stated that I have connected with a few other parents of children with OMA whose children are also being tested for Joubert Syndrome. I ruled this out for Mackenzie due to being told that her MRI from last June came back fine.

Dr. Goodkin was extremely sympathetic and caring when he spoke with us and gave us as much information as he could on Joubert Syndrome. He stated that it is an EXTREMELY rare genetic disorder. The one part I will always remember is how he said that the information we are getting right now lays on us as parents of Mackenzie. Doctors and other professionals we come into contact with may know what Joubert Syndrome is but that may be about it. He said that we will know more information about JS than any professional and will be the best advocate for Mackenzie. Talk about feeling overwhelmed! He went into detail of how people with JS can have complications with their liver and kidneys, have difficulties with their coordination and balance, abnormal brain development, abnormal eye movements and the list goes on. Ocular Motor Apraxia is often a symptom of Joubert Syndrome so we were on the right road with Mackenzie but just not all the way there (and may never end up getting all the answers we are hoping to get). The website that Dr. Goodkin gave us to get connected with other parents and to find information on research going on for Joubert Syndome is JSRDF. He told us that there are different studies on Joubert that we should look into for Mackenzie. He also gave us a sheet that we need to hand to Mackenzie's doctors of what examinations, etc should be done on a regular basis which can be seen here. I must add that Mackenzie had a little bit of a fussy time (what 2 year old doesn't when at the doctor!?) but she smiled and showed her very cute side to the doctor like she always does.:) Dr. Goodkin made it clear that he thinks Mackenzie is doing wonderful with her progress which made us feel better after receiving Mackenzie's diagnosis.

So where do we go from here?

BJ and I took some time to process everything. We had done so much research on Ocular Motor Apraxia and felt like we knew the disorder quite well. And then, when we least expected it, Mackenzie received a different diagnosis and one that we didn't think she had. I have been on the computer every evening searching for more information. I found a wonderful Facebook group and immediately after introducing myself, I received several comments and messages from parents going through exactly what I'm going through. I contacted those on the Joubert Foundation website and received the same kindness I received through the Facebook group. I never have had so many "strangers" show so much kindness and care so much for my daughter who they don't know. Through them I found out about a study that the NIH (National Insitute of Health) is doing on Joubert Syndrome. I contacted the nurse for the study and immediately received a response back stating that BJ, Mackenzie, and I are able to come to the NIH in a couple of months to do a 4 day study. We are very thankful that we will be a part of this. From my understanding- more genetic testing will be done along with kidney and liver tests, studying the eye movements, cognitive testing, nutrition testing, and the list goes on. Those in the Facebook group who have already participated in the study speak quite highly of it and say that they were given lots of information. Of course some of the information may not be what we want to hear. Liver and kidney complications can be found. From what I read, there are at least 10 mutated genes that can cause Joubert Syndrome. If a mutation is found in Mackenzie's genes then it can give more of an understanding of what type of complications she may or may not have but we have been told to keep in mind that Joubert Syndrome and the research is very rare and new so what we are told may not be what actually happens. But it will be nice to know what Mackenzie may expect in her future. Since this is a genetic disorder then BJ and I do have a 25% chance to pass this along to any future children.

Like I stated at the beginning, we have definitely seen ups and downs since last Monday. I am thankful that we have more of a clear diagnosis but it is hard that it is very rare and not much is known about it. I do wonder what the future holds for Mackenzie with her development and health. The neurologist stated that Mackenzie does seem to have a pretty mild form of Joubert Syndrome. He stated that Mackenzie is not characterized by having JS, she is who she is. Very important for me to keep in mind! I do not want my child to be labeled or for people to have preconceived notions of my child. I am constantly reminded by family, friends, and by Mackenzie that she is a very determined child. I know for a fact that she will not let anything get in her way. I am thankful that God has allowed me to be her parent. I feel like I have a huge responsibility but also know that He would have not blessed me with Mackenzie if He knew I couldn't handle her. She is already doing so well and will continue making so much progress. It may be slow but it's progress and we will celebrate every tiny milestone as they come.

I want to end by stating how grateful I am to family and friends for praying for us and giving endless amounts of encouragement. In the past week I have ran into people who I barely know (but know well enough to be "friends" on Facebook:)) who have stated that they keep up with Mack's blog and are praying for her. We definitely feel the prayers and are extremely thankful.

I don't have any recent videos to share however I did add videos of Mackenzie from 5-11 months old that are quite cute (I may be biased since I'm her mother:)). Here is the link: http://www.youtube.com/user/bjwhitmack

Here is a recent picture of our precious daughter.

"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."
Welcome to Holland by Emily Perl Kingsley

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.:)