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!"
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!"
That's so awesome, so glad you were able to find a doctor who respects you & your concerns. Mackenzie is doing so great!
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