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!:)