Mackenzie had an appointment with the Geneticist this past Wednesday. We saw this doctor 6 months ago and he tested Mackenzie for ataxia telangiectasia which her levels came back fine, however, they said it doesn't totally rule it out so they tested for it again. It is a very rare and life threatening disorder which I don't feel that Mackenzie has, but I don't mind testing for it to continue ruling it out. Click here for an overview of Ataxia Telangiectasia
The appointment lasted less than an hour. Overall I felt that it went quite well. Mackenzie was extremely nervous the moment she saw the nurse and doctor but was such a good sport. :) She let the doctor examine her and when he left the room briefly I could tell she was relieved. Unfortunately the doctor came back a few minutes later to take a large amount of blood and Mackenzie wasn't too thrilled. She cried while we held her down so she could have blood taken but she laid still and was proud of her kitty "sticker" (band-aid) that she received afterwards.:)
The Geneticist did a good job explaining what he was testing Mackenzie for. There are 2 genes that they are testing (hence the blood they took): the SETX and APTX genes. They are running the tests to see if they find mutations in the genes. If they do then this means that BJ and I are both carriers. If the tests come back positive then Mackenzie will most likely be diagnosed with "Ataxia with Oculomotor Apraxia". There are 2 different types of this disorder and both aren't too promising. The average person with Ataxia with Oculomotor Apraxia slowly loses mobility skills and is wheelchair bound around 30 years old plus other complications occur.
Below is information that I found on the National Institute of Health's Website:
"A lack of functional aprataxin (APTX) can lead to an accumulation of DNA damage in cells, particularly affecting brain cells in the part of the brain involved in coordinating movements (the cerebellum). This accumulation can lead to cell death in the cerebellum, causing the characteristic movement problems of ataxia with oculomotor apraxia type 1."
"A lack of functional senataxin (SETX) can lead to an accumulation of DNA damage in cells, particularly affecting brain cells in the part of the brain involved in coordinating movements (the cerebellum). This accumulation can lead to cell death in the cerebellum, causing the characteristic movement problems of ataxia with oculomotor apraxia type 2."
"Mutations in aprataxin and senataxin particularly affect brain cells, where DNA repair is essential. The part of the brain involved in coordinating movements (the cerebellum) is especially affected. It is thought that the loss of brain cells in the cerebellum causes the movement problems characteristic of ataxia with oculomotor apraxia."
The following links give a good overview of the SETX and APTX genes plus gives information on Ataxia with Oculomotor Apraxia (Also where the above information came from).
SETX Gene
APTX Gene
Ataxia with Oculomotor Apraxia
Let me clarify that there is a good chance Mackenzie does not have the above but they are testing for it so it is a possibility. Even if the tests do come back positive and show that she has mutations in these genes, the disorder is quite rare and there hasn't been a large amount of testing and research done on it so there is a lot of uncertainty of what the future may hold. The only research I have done is looking at the above websites. I am holding off on doing anything more until the tests come back (which unfortunately will be up to a month).
Now onto an update on how my wonderful (and silly!) daughter is doing in her every day life.:)
February was pretty much a "dull" month when it comes to appointments. We had our regular therapies but that was it. All of Mackenzie's therapists are pleased with her progress. Mackenzie is improving with the skills she already has. She has more of a vocabulary. She only says one word phrases but she is using more words every week. She is using sign language often which has been very helpful. She will not only sign the word but will also try to say it while she's signing it. She knows how to sign "mommy", "daddy", "more", "please", "help", "eat", "all done", "milk", "drink", "ball", and the list goes on.:) Even if she can't say what she wants, she definitely does whatever possible to communicate to us what she's trying to say until we finally understand (this can cause many frustrating moments!).
Mackenzie continues to enjoy holding onto my hands and walk and walk and walk...:) She will sometimes let go of one hand. Her balance is pretty unsteady when she does this however she is determined to do it. She can stand on her own for 5-10 seconds if she is already standing and holding onto something. She is trying hard to push herself to stand when her hands and feet are both on the floor. She won't stand on her own (even for a few seconds) too often since she has become extremely cautious because she knows she may lose her balance and have a hard fall. I've noticed that she loses her balance when something or someone close to her moves quickly. For instance, Mackenzie was sitting on the floor and my 4 year old niece ran by Mackenzie. Mackenzie tried to follow my niece with her eyes but lost focus (probably due to thrusting her head) which resulted in her losing her balance and falling straight over.
Mackenzie turns 2 this upcoming week.:) I will be honest and say that the past 2 years are not what I thought they were going to be. No parent wants to see their child go through difficulties especially this early in life. Mackenzie sees other children her age doing certain activities or just walking and she wants to do the same. I have learned to have more patience than I ever thought I would have. I know that she has made and continues to make great progress. I believe that she will live a long and healthy life however I also keep in the back of my mind the "what ifs". What if she does have one of the above disorders and she faces even more difficulties than she already has? There is so much uncertainty for Mackenzie's future but I have learned (and continue to learn) that I need to remain positive no matter what. The simplest things make me so happy and proud of Mackenzie. The other day she was in the front of a shopping cart and pulled her legs in and started standing up while holding onto the bar. Obviously this is not something I want her to continue doing however a huge part of me was so happy to see her trying to climb out and of course trying to stand up.:) Just like I state in every post- BJ and I are extremely blessed to be parents to a wonderful, determined, and sweet girl! Happy Birthday to Mackenzie! I have a feeling that we will be celebrating a very important milestone this year with seeing Mackenzie take her first steps.:)
If you've made it to the end of this long post, feel free to check out the following videos of a very cute child.
Mackenzie enjoys exercising. This video makes me laugh! :)
She is so close to taking a step!
She loves doing puzzles.
She's doing so well learning her animal sounds.
I am so proud of how well she's cruising around.
This one shows her head thrusts when she's focusing on something closely.
Thanks for reading/watching.:) I will update when we get the tests results back.
-Whitney
The appointment lasted less than an hour. Overall I felt that it went quite well. Mackenzie was extremely nervous the moment she saw the nurse and doctor but was such a good sport. :) She let the doctor examine her and when he left the room briefly I could tell she was relieved. Unfortunately the doctor came back a few minutes later to take a large amount of blood and Mackenzie wasn't too thrilled. She cried while we held her down so she could have blood taken but she laid still and was proud of her kitty "sticker" (band-aid) that she received afterwards.:)
The Geneticist did a good job explaining what he was testing Mackenzie for. There are 2 genes that they are testing (hence the blood they took): the SETX and APTX genes. They are running the tests to see if they find mutations in the genes. If they do then this means that BJ and I are both carriers. If the tests come back positive then Mackenzie will most likely be diagnosed with "Ataxia with Oculomotor Apraxia". There are 2 different types of this disorder and both aren't too promising. The average person with Ataxia with Oculomotor Apraxia slowly loses mobility skills and is wheelchair bound around 30 years old plus other complications occur.
Below is information that I found on the National Institute of Health's Website:
"A lack of functional aprataxin (APTX) can lead to an accumulation of DNA damage in cells, particularly affecting brain cells in the part of the brain involved in coordinating movements (the cerebellum). This accumulation can lead to cell death in the cerebellum, causing the characteristic movement problems of ataxia with oculomotor apraxia type 1."
"A lack of functional senataxin (SETX) can lead to an accumulation of DNA damage in cells, particularly affecting brain cells in the part of the brain involved in coordinating movements (the cerebellum). This accumulation can lead to cell death in the cerebellum, causing the characteristic movement problems of ataxia with oculomotor apraxia type 2."
"Mutations in aprataxin and senataxin particularly affect brain cells, where DNA repair is essential. The part of the brain involved in coordinating movements (the cerebellum) is especially affected. It is thought that the loss of brain cells in the cerebellum causes the movement problems characteristic of ataxia with oculomotor apraxia."
The following links give a good overview of the SETX and APTX genes plus gives information on Ataxia with Oculomotor Apraxia (Also where the above information came from).
SETX Gene
APTX Gene
Ataxia with Oculomotor Apraxia
Let me clarify that there is a good chance Mackenzie does not have the above but they are testing for it so it is a possibility. Even if the tests do come back positive and show that she has mutations in these genes, the disorder is quite rare and there hasn't been a large amount of testing and research done on it so there is a lot of uncertainty of what the future may hold. The only research I have done is looking at the above websites. I am holding off on doing anything more until the tests come back (which unfortunately will be up to a month).
Now onto an update on how my wonderful (and silly!) daughter is doing in her every day life.:)
February was pretty much a "dull" month when it comes to appointments. We had our regular therapies but that was it. All of Mackenzie's therapists are pleased with her progress. Mackenzie is improving with the skills she already has. She has more of a vocabulary. She only says one word phrases but she is using more words every week. She is using sign language often which has been very helpful. She will not only sign the word but will also try to say it while she's signing it. She knows how to sign "mommy", "daddy", "more", "please", "help", "eat", "all done", "milk", "drink", "ball", and the list goes on.:) Even if she can't say what she wants, she definitely does whatever possible to communicate to us what she's trying to say until we finally understand (this can cause many frustrating moments!).
Mackenzie continues to enjoy holding onto my hands and walk and walk and walk...:) She will sometimes let go of one hand. Her balance is pretty unsteady when she does this however she is determined to do it. She can stand on her own for 5-10 seconds if she is already standing and holding onto something. She is trying hard to push herself to stand when her hands and feet are both on the floor. She won't stand on her own (even for a few seconds) too often since she has become extremely cautious because she knows she may lose her balance and have a hard fall. I've noticed that she loses her balance when something or someone close to her moves quickly. For instance, Mackenzie was sitting on the floor and my 4 year old niece ran by Mackenzie. Mackenzie tried to follow my niece with her eyes but lost focus (probably due to thrusting her head) which resulted in her losing her balance and falling straight over.
Mackenzie turns 2 this upcoming week.:) I will be honest and say that the past 2 years are not what I thought they were going to be. No parent wants to see their child go through difficulties especially this early in life. Mackenzie sees other children her age doing certain activities or just walking and she wants to do the same. I have learned to have more patience than I ever thought I would have. I know that she has made and continues to make great progress. I believe that she will live a long and healthy life however I also keep in the back of my mind the "what ifs". What if she does have one of the above disorders and she faces even more difficulties than she already has? There is so much uncertainty for Mackenzie's future but I have learned (and continue to learn) that I need to remain positive no matter what. The simplest things make me so happy and proud of Mackenzie. The other day she was in the front of a shopping cart and pulled her legs in and started standing up while holding onto the bar. Obviously this is not something I want her to continue doing however a huge part of me was so happy to see her trying to climb out and of course trying to stand up.:) Just like I state in every post- BJ and I are extremely blessed to be parents to a wonderful, determined, and sweet girl! Happy Birthday to Mackenzie! I have a feeling that we will be celebrating a very important milestone this year with seeing Mackenzie take her first steps.:)
If you've made it to the end of this long post, feel free to check out the following videos of a very cute child.
Mackenzie enjoys exercising. This video makes me laugh! :)
Mackenzie was quite determined to learn how to sit on Thomas the Train.
She loves doing puzzles.
She's doing so well learning her animal sounds.
I am so proud of how well she's cruising around.
This one shows her head thrusts when she's focusing on something closely.
Thanks for reading/watching.:) I will update when we get the tests results back.
-Whitney
