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.:)

Mackenzie's first steps!!! Plus a huge sigh of relief!

This post has to start out with my favorite video of Mackenzie! I am so excited and proud to see Mackenzie do this! Mackenzie is also very proud of herself! This was last week. There are other videos at the end of the post from a couple of days ago.

The past month we have nervously waited to hear back from the Geneticist with the results from the blood test for Ataxia Telegnasia and Ataxia with Oculomotor Apraxia. We were told it would take up to a month. Every time the phone rang this past week, I became very nervous/anxious. We finally received the call from the nurse on Monday. Thankfully the tests came back fine:)! BJ and I didn't talk about the tests much in the past month. I think we pushed it in the back of our minds because we knew there wasn't anything that we could do but we both had a huge sigh of relief when we heard the results.
And then we both questioned- What now? We are thankful that Mackenzie doesn't have either one of these disorders but we are back to not knowing what exactly is going on with her (which I'm ok with as long as it means Mackenzie is healthy!). The nurse went ahead and scheduled another appointment for August 1st. She said that the Geneticist will most likely want to do a CGH Microarray. From what I understand, this is another blood test that will look at all of the chromosones as a whole and see if any abnormailities show up. The 2 tests that Mackenzie just had done looked closely at 2 specific genes. The CGH looks at things in more of a broader sense. If abnormalities show then they will take a closer look at where the abnormalities are. The downside of this test is that it takes a lot longer- may take up to a year to get the results. On top of that, a "normal" person can have the test done and it shows abnormalities that no one knew were there. So if the doctor decides to have this test done on Mackenzie, it may show abnormalities that we weren't expecting to see, causing us to worry about something that may not even affect her. On the other side, it can give us pertinent information. If it shows up "normal" with no abnormalities then it leans more towards that what Mackenzie has is not genetic.

Mackenzie has an appointment with a Pediatric Neurologist in a couple of weeks. We haven't seen a Neurologist yet so I'm looking forward to this appointment. This Neurologist, the Geneticist, and the Neuro-Opthomologist are all in the same hospital/university so they have each others notes on previous appointments when Mackenzie sees them which is very helpful. I'm not sure what to expect when we go to the appointment however I do feel that what Mackenzie has is neurological-related and I am hopeful that this doctor can give us new input.

On top of the great news we received this week, we also had a great 2 year check up with Mackenzie's primary pediatrician. He had not seen Mackenzie since she was 18 months old. He stated how wonderful Mackenzie looked compared to 6 months ago. He can definitely see that progress has been made, especially with her mobility. He also added that Mackenzie is in the top of the charts with her height, weight, and head. I'm thinking she is following her mom in that aspect--well in the height part.:)

We had our ups and downs this past month. I tried to hide how nervous I was waiting for the tests but I don't think I hid it all that well! Mackenzie had frustrations on her own. She is becoming quite independent which is great however it's also hard to give her space when she still has very hard falls and I don't want her to hurt herself. I recently signed Mackenzie up for a local music/gym class. The gym is great for kids-a padded and open space with many things to climb on. Last week's class was rough. Mackenzie's balance was quite off and she saw her peers running around and she was trying to do all that she saw them do. She became frustrated with me when I tried to help her and she had a few meltdowns. A similar thing happened the next day at the park. It was very rough to see her want to do what kids her age or even younger are doing and no matter how hard she tries, she just isn't capable of doing it. There are times I feel useless and am quite unsure how I should handle the situation. I was able to relate to other parents in the OMA Facebook group going through similar situations and it helped so much from last week to this week. This morning's gym class was great. Mackenzie has made so much progress in the past week with her mobility so she had so much fun being able to climb onto anything and everything plus I did a good job giving her distance but also making sure I stayed close enough just in case.:) Mackenzie is also saying several new words. She is still hard to understand however she is trying. She mimics me all the time and will randomly say a new word I had no clue she knew! I love seeing her make such fast progress in certain areas when we have kinda been at a standstill for a while. And I know she loves it too!

Mackenzie had a wonderful 2nd birthday. She went down a slide by herself for the first time. She was so excited and had to do it over and over again.:) So many new things have happened in the past month. She is getting so close to pushing herself to stand from the floor. She takes a couple of steps between the couch and the ottoman! She lets go of things and tries to stand on her own. I can't wait to see what new things will happen in the next couple of months.:)

Now it's time for some cute pics and videos!

This is on Mackenzie's birthday. She held onto the railings and "walked" by herself.

Mackenzie's first time going down a slide on her own.:)

Since Mackenzie loves riding her bike, we bought her a Dora helmet. She not only likes wearing it when she is on her bike but also when she is sitting around watching Dora.:)

BJ is determined to have Mackenzie love motorcycles as much as he does!

My child is a tom-boy in many areas but she is definitely a very girlie girl as well!

The following videos were taken the other day, a week after the first video in this blog. She only takes a few steps at a time but her balance has drastically improved in just the week. She is doing so well!:)